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Select item 14915494411.

rs1491549441 has merged into rs35183530 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:66722586 (GRCh38)
11:66490057 (GRCh37)
Canonical SPDI:: NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPTBN2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAA=0.0041/2 (NorthernSweden)
HGVS:: NC_000011.10:g.66722586_66722599del, NC_000011.10:g.66722587_66722599del, NC_000011.10:g.66722588_66722599del, NC_000011.10:g.66722589_66722599del, NC_000011.10:g.66722590_66722599del, NC_000011.10:g.66722591_66722599del, NC_000011.10:g.66722592_66722599del, NC_000011.10:g.66722593_66722599del, NC_000011.10:g.66722594_66722599del, NC_000011.10:g.66722595_66722599del, NC_000011.10:g.66722596_66722599del, NC_000011.10:g.66722597_66722599del, NC_000011.10:g.66722598_66722599del, NC_000011.10:g.66722599del, NC_000011.10:g.66722599dup, NC_000011.10:g.66722598_66722599dup, NC_000011.10:g.66722597_66722599dup, NC_000011.10:g.66722596_66722599dup, NC_000011.10:g.66722582_66722599dup, NC_000011.10:g.66722599_66722600insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.66490057_66490070del, NC_000011.9:g.66490058_66490070del, NC_000011.9:g.66490059_66490070del, NC_000011.9:g.66490060_66490070del, NC_000011.9:g.66490061_66490070del, NC_000011.9:g.66490062_66490070del, NC_000011.9:g.66490063_66490070del, NC_000011.9:g.66490064_66490070del, NC_000011.9:g.66490065_66490070del, NC_000011.9:g.66490066_66490070del, NC_000011.9:g.66490067_66490070del, NC_000011.9:g.66490068_66490070del, NC_000011.9:g.66490069_66490070del, NC_000011.9:g.66490070del, NC_000011.9:g.66490070dup, NC_000011.9:g.66490069_66490070dup, NC_000011.9:g.66490068_66490070dup, NC_000011.9:g.66490067_66490070dup, NC_000011.9:g.66490053_66490070dup, NC_000011.9:g.66490070_66490071insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016150.2:g.11773_11786del, NG_016150.2:g.11774_11786del, NG_016150.2:g.11775_11786del, NG_016150.2:g.11776_11786del, NG_016150.2:g.11777_11786del, NG_016150.2:g.11778_11786del, NG_016150.2:g.11779_11786del, NG_016150.2:g.11780_11786del, NG_016150.2:g.11781_11786del, NG_016150.2:g.11782_11786del, NG_016150.2:g.11783_11786del, NG_016150.2:g.11784_11786del, NG_016150.2:g.11785_11786del, NG_016150.2:g.11786del, NG_016150.2:g.11786dup, NG_016150.2:g.11785_11786dup, NG_016150.2:g.11784_11786dup, NG_016150.2:g.11783_11786dup, NG_016150.2:g.11769_11786dup, NG_016150.2:g.11786_11787insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047427493.1:c.-1262_-1249del, XM_047427493.1:c.-1261_-1249del, XM_047427493.1:c.-1260_-1249del, XM_047427493.1:c.-1259_-1249del, XM_047427493.1:c.-1258_-1249del, XM_047427493.1:c.-1257_-1249del, XM_047427493.1:c.-1256_-1249del, XM_047427493.1:c.-1255_-1249del, XM_047427493.1:c.-1254_-1249del, XM_047427493.1:c.-1253_-1249del, XM_047427493.1:c.-1252_-1249del, XM_047427493.1:c.-1251_-1249del, XM_047427493.1:c.-1250_-1249del, XM_047427493.1:c.-1249del, XM_047427493.1:c.-1249dup, XM_047427493.1:c.-1250_-1249dup, XM_047427493.1:c.-1251_-1249dup, XM_047427493.1:c.-1252_-1249dup, XM_047427493.1:c.-1266_-1249dup, XM_047427493.1:c.-1249_-1248insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047427494.1:c.-1262_-1249del, XM_047427494.1:c.-1261_-1249del, XM_047427494.1:c.-1260_-1249del, XM_047427494.1:c.-1259_-1249del, XM_047427494.1:c.-1258_-1249del, XM_047427494.1:c.-1257_-1249del, XM_047427494.1:c.-1256_-1249del, XM_047427494.1:c.-1255_-1249del, XM_047427494.1:c.-1254_-1249del, XM_047427494.1:c.-1253_-1249del, XM_047427494.1:c.-1252_-1249del, XM_047427494.1:c.-1251_-1249del, XM_047427494.1:c.-1250_-1249del, XM_047427494.1:c.-1249del, XM_047427494.1:c.-1249dup, XM_047427494.1:c.-1250_-1249dup, XM_047427494.1:c.-1251_-1249dup, XM_047427494.1:c.-1252_-1249dup, XM_047427494.1:c.-1266_-1249dup, XM_047427494.1:c.-1249_-1248insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047427492.1:c.-1262_-1249del, XM_047427492.1:c.-1261_-1249del, XM_047427492.1:c.-1260_-1249del, XM_047427492.1:c.-1259_-1249del, XM_047427492.1:c.-1258_-1249del, XM_047427492.1:c.-1257_-1249del, XM_047427492.1:c.-1256_-1249del, XM_047427492.1:c.-1255_-1249del, XM_047427492.1:c.-1254_-1249del, XM_047427492.1:c.-1253_-1249del, XM_047427492.1:c.-1252_-1249del, XM_047427492.1:c.-1251_-1249del, XM_047427492.1:c.-1250_-1249del, XM_047427492.1:c.-1249del, XM_047427492.1:c.-1249dup, XM_047427492.1:c.-1250_-1249dup, XM_047427492.1:c.-1251_-1249dup, XM_047427492.1:c.-1252_-1249dup, XM_047427492.1:c.-1266_-1249dup, XM_047427492.1:c.-1249_-1248insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914478482.

rs1491447848 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:66722575 (GRCh38)
11:66490046 (GRCh37)
Canonical SPDI:: NC_000011.10:66722574:CA:
Gene:: SPTBN2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000011.10:g.66722575_66722576del, NC_000011.9:g.66490046_66490047del, NG_016150.2:g.11786_11787del, XM_047427493.1:c.-1249_-1248del, XM_047427494.1:c.-1249_-1248del, XM_047427492.1:c.-1249_-1248del

Select item 14911678993.

rs1491167899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTC [Show Flanks]
Chromosome:: 11:66699960 (GRCh38)
11:66467432 (GRCh37)
Canonical SPDI:: NC_000011.10:66699960:CTTTTTC:CTTTTTCCTTTTTC
Gene:: SPTBN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTTTTCCTTTTTC=0./0 (ALFA)
CTTTTTC=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66699961_66699967dup, NC_000011.9:g.66467432_66467438dup, NG_016150.2:g.34395_34401dup

Select item 14910844514.

rs1491084451 has merged into rs35183530 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:66722586 (GRCh38)
11:66490057 (GRCh37)
Canonical SPDI:: NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66722575:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPTBN2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAA=0.0041/2 (NorthernSweden)
HGVS:: NC_000011.10:g.66722586_66722599del, NC_000011.10:g.66722587_66722599del, NC_000011.10:g.66722588_66722599del, NC_000011.10:g.66722589_66722599del, NC_000011.10:g.66722590_66722599del, NC_000011.10:g.66722591_66722599del, NC_000011.10:g.66722592_66722599del, NC_000011.10:g.66722593_66722599del, NC_000011.10:g.66722594_66722599del, NC_000011.10:g.66722595_66722599del, NC_000011.10:g.66722596_66722599del, NC_000011.10:g.66722597_66722599del, NC_000011.10:g.66722598_66722599del, NC_000011.10:g.66722599del, NC_000011.10:g.66722599dup, NC_000011.10:g.66722598_66722599dup, NC_000011.10:g.66722597_66722599dup, NC_000011.10:g.66722596_66722599dup, NC_000011.10:g.66722582_66722599dup, NC_000011.10:g.66722599_66722600insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.66490057_66490070del, NC_000011.9:g.66490058_66490070del, NC_000011.9:g.66490059_66490070del, NC_000011.9:g.66490060_66490070del, NC_000011.9:g.66490061_66490070del, NC_000011.9:g.66490062_66490070del, NC_000011.9:g.66490063_66490070del, NC_000011.9:g.66490064_66490070del, NC_000011.9:g.66490065_66490070del, NC_000011.9:g.66490066_66490070del, NC_000011.9:g.66490067_66490070del, NC_000011.9:g.66490068_66490070del, NC_000011.9:g.66490069_66490070del, NC_000011.9:g.66490070del, NC_000011.9:g.66490070dup, NC_000011.9:g.66490069_66490070dup, NC_000011.9:g.66490068_66490070dup, NC_000011.9:g.66490067_66490070dup, NC_000011.9:g.66490053_66490070dup, NC_000011.9:g.66490070_66490071insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016150.2:g.11773_11786del, NG_016150.2:g.11774_11786del, NG_016150.2:g.11775_11786del, NG_016150.2:g.11776_11786del, NG_016150.2:g.11777_11786del, NG_016150.2:g.11778_11786del, NG_016150.2:g.11779_11786del, NG_016150.2:g.11780_11786del, NG_016150.2:g.11781_11786del, NG_016150.2:g.11782_11786del, NG_016150.2:g.11783_11786del, NG_016150.2:g.11784_11786del, NG_016150.2:g.11785_11786del, NG_016150.2:g.11786del, NG_016150.2:g.11786dup, NG_016150.2:g.11785_11786dup, NG_016150.2:g.11784_11786dup, NG_016150.2:g.11783_11786dup, NG_016150.2:g.11769_11786dup, NG_016150.2:g.11786_11787insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047427493.1:c.-1262_-1249del, XM_047427493.1:c.-1261_-1249del, XM_047427493.1:c.-1260_-1249del, XM_047427493.1:c.-1259_-1249del, XM_047427493.1:c.-1258_-1249del, XM_047427493.1:c.-1257_-1249del, XM_047427493.1:c.-1256_-1249del, XM_047427493.1:c.-1255_-1249del, XM_047427493.1:c.-1254_-1249del, XM_047427493.1:c.-1253_-1249del, XM_047427493.1:c.-1252_-1249del, XM_047427493.1:c.-1251_-1249del, XM_047427493.1:c.-1250_-1249del, XM_047427493.1:c.-1249del, XM_047427493.1:c.-1249dup, XM_047427493.1:c.-1250_-1249dup, XM_047427493.1:c.-1251_-1249dup, XM_047427493.1:c.-1252_-1249dup, XM_047427493.1:c.-1266_-1249dup, XM_047427493.1:c.-1249_-1248insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047427494.1:c.-1262_-1249del, XM_047427494.1:c.-1261_-1249del, XM_047427494.1:c.-1260_-1249del, XM_047427494.1:c.-1259_-1249del, XM_047427494.1:c.-1258_-1249del, XM_047427494.1:c.-1257_-1249del, XM_047427494.1:c.-1256_-1249del, XM_047427494.1:c.-1255_-1249del, XM_047427494.1:c.-1254_-1249del, XM_047427494.1:c.-1253_-1249del, XM_047427494.1:c.-1252_-1249del, XM_047427494.1:c.-1251_-1249del, XM_047427494.1:c.-1250_-1249del, XM_047427494.1:c.-1249del, XM_047427494.1:c.-1249dup, XM_047427494.1:c.-1250_-1249dup, XM_047427494.1:c.-1251_-1249dup, XM_047427494.1:c.-1252_-1249dup, XM_047427494.1:c.-1266_-1249dup, XM_047427494.1:c.-1249_-1248insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047427492.1:c.-1262_-1249del, XM_047427492.1:c.-1261_-1249del, XM_047427492.1:c.-1260_-1249del, XM_047427492.1:c.-1259_-1249del, XM_047427492.1:c.-1258_-1249del, XM_047427492.1:c.-1257_-1249del, XM_047427492.1:c.-1256_-1249del, XM_047427492.1:c.-1255_-1249del, XM_047427492.1:c.-1254_-1249del, XM_047427492.1:c.-1253_-1249del, XM_047427492.1:c.-1252_-1249del, XM_047427492.1:c.-1251_-1249del, XM_047427492.1:c.-1250_-1249del, XM_047427492.1:c.-1249del, XM_047427492.1:c.-1249dup, XM_047427492.1:c.-1250_-1249dup, XM_047427492.1:c.-1251_-1249dup, XM_047427492.1:c.-1252_-1249dup, XM_047427492.1:c.-1266_-1249dup, XM_047427492.1:c.-1249_-1248insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910298275.

rs1491029827 has merged into rs55950324 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:66683075 (GRCh38)
11:66450546 (GRCh37)
Canonical SPDI:: NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:66683063:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.66683075_66683085del, NC_000011.10:g.66683076_66683085del, NC_000011.10:g.66683077_66683085del, NC_000011.10:g.66683078_66683085del, NC_000011.10:g.66683080_66683085del, NC_000011.10:g.66683081_66683085del, NC_000011.10:g.66683083_66683085del, NC_000011.10:g.66683084_66683085del, NC_000011.10:g.66683085del, NC_000011.10:g.66683085dup, NC_000011.10:g.66683084_66683085dup, NC_000011.10:g.66683083_66683085dup, NC_000011.10:g.66683082_66683085dup, NC_000011.10:g.66683081_66683085dup, NC_000011.10:g.66683080_66683085dup, NC_000011.10:g.66683079_66683085dup, NC_000011.10:g.66683078_66683085dup, NC_000011.10:g.66683077_66683085dup, NC_000011.10:g.66683076_66683085dup, NC_000011.10:g.66683072_66683085dup, NC_000011.10:g.66683085_66683086insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.66450546_66450556del, NC_000011.9:g.66450547_66450556del, NC_000011.9:g.66450548_66450556del, NC_000011.9:g.66450549_66450556del, NC_000011.9:g.66450551_66450556del, NC_000011.9:g.66450552_66450556del, NC_000011.9:g.66450554_66450556del, NC_000011.9:g.66450555_66450556del, NC_000011.9:g.66450556del, NC_000011.9:g.66450556dup, NC_000011.9:g.66450555_66450556dup, NC_000011.9:g.66450554_66450556dup, NC_000011.9:g.66450553_66450556dup, NC_000011.9:g.66450552_66450556dup, NC_000011.9:g.66450551_66450556dup, NC_000011.9:g.66450550_66450556dup, NC_000011.9:g.66450549_66450556dup, NC_000011.9:g.66450548_66450556dup, NC_000011.9:g.66450547_66450556dup, NC_000011.9:g.66450543_66450556dup, NC_000011.9:g.66450556_66450557insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016150.2:g.51288_51298del, NG_016150.2:g.51289_51298del, NG_016150.2:g.51290_51298del, NG_016150.2:g.51291_51298del, NG_016150.2:g.51293_51298del, NG_016150.2:g.51294_51298del, NG_016150.2:g.51296_51298del, NG_016150.2:g.51297_51298del, NG_016150.2:g.51298del, NG_016150.2:g.51298dup, NG_016150.2:g.51297_51298dup, NG_016150.2:g.51296_51298dup, NG_016150.2:g.51295_51298dup, NG_016150.2:g.51294_51298dup, NG_016150.2:g.51293_51298dup, NG_016150.2:g.51292_51298dup, NG_016150.2:g.51291_51298dup, NG_016150.2:g.51290_51298dup, NG_016150.2:g.51289_51298dup, NG_016150.2:g.51285_51298dup, NG_016150.2:g.51298_51299insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_006946.4:c.*2797_*2807del, NM_006946.4:c.*2798_*2807del, NM_006946.4:c.*2799_*2807del, NM_006946.4:c.*2800_*2807del, NM_006946.4:c.*2802_*2807del, NM_006946.4:c.*2803_*2807del, NM_006946.4:c.*2805_*2807del, NM_006946.4:c.*2806_*2807del, NM_006946.4:c.*2807del, NM_006946.4:c.*2807dup, NM_006946.4:c.*2806_*2807dup, NM_006946.4:c.*2805_*2807dup, NM_006946.4:c.*2804_*2807dup, NM_006946.4:c.*2803_*2807dup, NM_006946.4:c.*2802_*2807dup, NM_006946.4:c.*2801_*2807dup, NM_006946.4:c.*2800_*2807dup, NM_006946.4:c.*2799_*2807dup, NM_006946.4:c.*2798_*2807dup, NM_006946.4:c.*2794_*2807dup, NM_006946.4:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_006946.3:c.*2797_*2807del, NM_006946.3:c.*2798_*2807del, NM_006946.3:c.*2799_*2807del, NM_006946.3:c.*2800_*2807del, NM_006946.3:c.*2802_*2807del, NM_006946.3:c.*2803_*2807del, NM_006946.3:c.*2805_*2807del, NM_006946.3:c.*2806_*2807del, NM_006946.3:c.*2807del, NM_006946.3:c.*2807dup, NM_006946.3:c.*2806_*2807dup, NM_006946.3:c.*2805_*2807dup, NM_006946.3:c.*2804_*2807dup, NM_006946.3:c.*2803_*2807dup, NM_006946.3:c.*2802_*2807dup, NM_006946.3:c.*2801_*2807dup, NM_006946.3:c.*2800_*2807dup, NM_006946.3:c.*2799_*2807dup, NM_006946.3:c.*2798_*2807dup, NM_006946.3:c.*2794_*2807dup, NM_006946.3:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001411025.1:c.*2797_*2807del, NM_001411025.1:c.*2798_*2807del, NM_001411025.1:c.*2799_*2807del, NM_001411025.1:c.*2800_*2807del, NM_001411025.1:c.*2802_*2807del, NM_001411025.1:c.*2803_*2807del, NM_001411025.1:c.*2805_*2807del, NM_001411025.1:c.*2806_*2807del, NM_001411025.1:c.*2807del, NM_001411025.1:c.*2807dup, NM_001411025.1:c.*2806_*2807dup, NM_001411025.1:c.*2805_*2807dup, NM_001411025.1:c.*2804_*2807dup, NM_001411025.1:c.*2803_*2807dup, NM_001411025.1:c.*2802_*2807dup, NM_001411025.1:c.*2801_*2807dup, NM_001411025.1:c.*2800_*2807dup, NM_001411025.1:c.*2799_*2807dup, NM_001411025.1:c.*2798_*2807dup, NM_001411025.1:c.*2794_*2807dup, NM_001411025.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_006718671.5:c.*2797_*2807del, XM_006718671.5:c.*2798_*2807del, XM_006718671.5:c.*2799_*2807del, XM_006718671.5:c.*2800_*2807del, XM_006718671.5:c.*2802_*2807del, XM_006718671.5:c.*2803_*2807del, XM_006718671.5:c.*2805_*2807del, XM_006718671.5:c.*2806_*2807del, XM_006718671.5:c.*2807del, XM_006718671.5:c.*2807dup, XM_006718671.5:c.*2806_*2807dup, XM_006718671.5:c.*2805_*2807dup, XM_006718671.5:c.*2804_*2807dup, XM_006718671.5:c.*2803_*2807dup, XM_006718671.5:c.*2802_*2807dup, XM_006718671.5:c.*2801_*2807dup, XM_006718671.5:c.*2800_*2807dup, XM_006718671.5:c.*2799_*2807dup, XM_006718671.5:c.*2798_*2807dup, XM_006718671.5:c.*2794_*2807dup, XM_006718671.5:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_006718671.4:c.*2797_*2807del, XM_006718671.4:c.*2798_*2807del, XM_006718671.4:c.*2799_*2807del, XM_006718671.4:c.*2800_*2807del, XM_006718671.4:c.*2802_*2807del, XM_006718671.4:c.*2803_*2807del, XM_006718671.4:c.*2805_*2807del, XM_006718671.4:c.*2806_*2807del, XM_006718671.4:c.*2807del, XM_006718671.4:c.*2807dup, XM_006718671.4:c.*2806_*2807dup, XM_006718671.4:c.*2805_*2807dup, XM_006718671.4:c.*2804_*2807dup, XM_006718671.4:c.*2803_*2807dup, XM_006718671.4:c.*2802_*2807dup, XM_006718671.4:c.*2801_*2807dup, XM_006718671.4:c.*2800_*2807dup, XM_006718671.4:c.*2799_*2807dup, XM_006718671.4:c.*2798_*2807dup, XM_006718671.4:c.*2794_*2807dup, XM_006718671.4:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_006718671.3:c.*2797_*2807del, XM_006718671.3:c.*2798_*2807del, XM_006718671.3:c.*2799_*2807del, XM_006718671.3:c.*2800_*2807del, XM_006718671.3:c.*2802_*2807del, XM_006718671.3:c.*2803_*2807del, XM_006718671.3:c.*2805_*2807del, XM_006718671.3:c.*2806_*2807del, XM_006718671.3:c.*2807del, XM_006718671.3:c.*2807dup, XM_006718671.3:c.*2806_*2807dup, XM_006718671.3:c.*2805_*2807dup, XM_006718671.3:c.*2804_*2807dup, XM_006718671.3:c.*2803_*2807dup, XM_006718671.3:c.*2802_*2807dup, XM_006718671.3:c.*2801_*2807dup, XM_006718671.3:c.*2800_*2807dup, XM_006718671.3:c.*2799_*2807dup, XM_006718671.3:c.*2798_*2807dup, XM_006718671.3:c.*2794_*2807dup, XM_006718671.3:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_006718671.2:c.*2797_*2807del, XM_006718671.2:c.*2798_*2807del, XM_006718671.2:c.*2799_*2807del, XM_006718671.2:c.*2800_*2807del, XM_006718671.2:c.*2802_*2807del, XM_006718671.2:c.*2803_*2807del, XM_006718671.2:c.*2805_*2807del, XM_006718671.2:c.*2806_*2807del, XM_006718671.2:c.*2807del, XM_006718671.2:c.*2807dup, XM_006718671.2:c.*2806_*2807dup, XM_006718671.2:c.*2805_*2807dup, XM_006718671.2:c.*2804_*2807dup, XM_006718671.2:c.*2803_*2807dup, XM_006718671.2:c.*2802_*2807dup, XM_006718671.2:c.*2801_*2807dup, XM_006718671.2:c.*2800_*2807dup, XM_006718671.2:c.*2799_*2807dup, XM_006718671.2:c.*2798_*2807dup, XM_006718671.2:c.*2794_*2807dup, XM_006718671.2:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_005274193.4:c.*2797_*2807del, XM_005274193.4:c.*2798_*2807del, XM_005274193.4:c.*2799_*2807del, XM_005274193.4:c.*2800_*2807del, XM_005274193.4:c.*2802_*2807del, XM_005274193.4:c.*2803_*2807del, XM_005274193.4:c.*2805_*2807del, XM_005274193.4:c.*2806_*2807del, XM_005274193.4:c.*2807del, XM_005274193.4:c.*2807dup, XM_005274193.4:c.*2806_*2807dup, XM_005274193.4:c.*2805_*2807dup, XM_005274193.4:c.*2804_*2807dup, XM_005274193.4:c.*2803_*2807dup, XM_005274193.4:c.*2802_*2807dup, XM_005274193.4:c.*2801_*2807dup, XM_005274193.4:c.*2800_*2807dup, XM_005274193.4:c.*2799_*2807dup, XM_005274193.4:c.*2798_*2807dup, XM_005274193.4:c.*2794_*2807dup, XM_005274193.4:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_005274193.3:c.*2797_*2807del, XM_005274193.3:c.*2798_*2807del, XM_005274193.3:c.*2799_*2807del, XM_005274193.3:c.*2800_*2807del, XM_005274193.3:c.*2802_*2807del, XM_005274193.3:c.*2803_*2807del, XM_005274193.3:c.*2805_*2807del, XM_005274193.3:c.*2806_*2807del, XM_005274193.3:c.*2807del, XM_005274193.3:c.*2807dup, XM_005274193.3:c.*2806_*2807dup, XM_005274193.3:c.*2805_*2807dup, XM_005274193.3:c.*2804_*2807dup, XM_005274193.3:c.*2803_*2807dup, XM_005274193.3:c.*2802_*2807dup, XM_005274193.3:c.*2801_*2807dup, XM_005274193.3:c.*2800_*2807dup, XM_005274193.3:c.*2799_*2807dup, XM_005274193.3:c.*2798_*2807dup, XM_005274193.3:c.*2794_*2807dup, XM_005274193.3:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_005274193.1:c.*2797_*2807del, XM_005274193.1:c.*2798_*2807del, XM_005274193.1:c.*2799_*2807del, XM_005274193.1:c.*2800_*2807del, XM_005274193.1:c.*2802_*2807del, XM_005274193.1:c.*2803_*2807del, XM_005274193.1:c.*2805_*2807del, XM_005274193.1:c.*2806_*2807del, XM_005274193.1:c.*2807del, XM_005274193.1:c.*2807dup, XM_005274193.1:c.*2806_*2807dup, XM_005274193.1:c.*2805_*2807dup, XM_005274193.1:c.*2804_*2807dup, XM_005274193.1:c.*2803_*2807dup, XM_005274193.1:c.*2802_*2807dup, XM_005274193.1:c.*2801_*2807dup, XM_005274193.1:c.*2800_*2807dup, XM_005274193.1:c.*2799_*2807dup, XM_005274193.1:c.*2798_*2807dup, XM_005274193.1:c.*2794_*2807dup, XM_005274193.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_006718669.4:c.*2797_*2807del, XM_006718669.4:c.*2798_*2807del, XM_006718669.4:c.*2799_*2807del, XM_006718669.4:c.*2800_*2807del, XM_006718669.4:c.*2802_*2807del, XM_006718669.4:c.*2803_*2807del, XM_006718669.4:c.*2805_*2807del, XM_006718669.4:c.*2806_*2807del, XM_006718669.4:c.*2807del, XM_006718669.4:c.*2807dup, XM_006718669.4:c.*2806_*2807dup, XM_006718669.4:c.*2805_*2807dup, XM_006718669.4:c.*2804_*2807dup, XM_006718669.4:c.*2803_*2807dup, XM_006718669.4:c.*2802_*2807dup, XM_006718669.4:c.*2801_*2807dup, XM_006718669.4:c.*2800_*2807dup, XM_006718669.4:c.*2799_*2807dup, XM_006718669.4:c.*2798_*2807dup, XM_006718669.4:c.*2794_*2807dup, XM_006718669.4:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018175.3:c.*2797_*2807del, XM_017018175.3:c.*2798_*2807del, XM_017018175.3:c.*2799_*2807del, XM_017018175.3:c.*2800_*2807del, XM_017018175.3:c.*2802_*2807del, XM_017018175.3:c.*2803_*2807del, XM_017018175.3:c.*2805_*2807del, XM_017018175.3:c.*2806_*2807del, XM_017018175.3:c.*2807del, XM_017018175.3:c.*2807dup, XM_017018175.3:c.*2806_*2807dup, XM_017018175.3:c.*2805_*2807dup, XM_017018175.3:c.*2804_*2807dup, XM_017018175.3:c.*2803_*2807dup, XM_017018175.3:c.*2802_*2807dup, XM_017018175.3:c.*2801_*2807dup, XM_017018175.3:c.*2800_*2807dup, XM_017018175.3:c.*2799_*2807dup, XM_017018175.3:c.*2798_*2807dup, XM_017018175.3:c.*2794_*2807dup, XM_017018175.3:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018175.2:c.*2797_*2807del, XM_017018175.2:c.*2798_*2807del, XM_017018175.2:c.*2799_*2807del, XM_017018175.2:c.*2800_*2807del, XM_017018175.2:c.*2802_*2807del, XM_017018175.2:c.*2803_*2807del, XM_017018175.2:c.*2805_*2807del, XM_017018175.2:c.*2806_*2807del, XM_017018175.2:c.*2807del, XM_017018175.2:c.*2807dup, XM_017018175.2:c.*2806_*2807dup, XM_017018175.2:c.*2805_*2807dup, XM_017018175.2:c.*2804_*2807dup, XM_017018175.2:c.*2803_*2807dup, XM_017018175.2:c.*2802_*2807dup, XM_017018175.2:c.*2801_*2807dup, XM_017018175.2:c.*2800_*2807dup, XM_017018175.2:c.*2799_*2807dup, XM_017018175.2:c.*2798_*2807dup, XM_017018175.2:c.*2794_*2807dup, XM_017018175.2:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018175.1:c.*2797_*2807del, XM_017018175.1:c.*2798_*2807del, XM_017018175.1:c.*2799_*2807del, XM_017018175.1:c.*2800_*2807del, XM_017018175.1:c.*2802_*2807del, XM_017018175.1:c.*2803_*2807del, XM_017018175.1:c.*2805_*2807del, XM_017018175.1:c.*2806_*2807del, XM_017018175.1:c.*2807del, XM_017018175.1:c.*2807dup, XM_017018175.1:c.*2806_*2807dup, XM_017018175.1:c.*2805_*2807dup, XM_017018175.1:c.*2804_*2807dup, XM_017018175.1:c.*2803_*2807dup, XM_017018175.1:c.*2802_*2807dup, XM_017018175.1:c.*2801_*2807dup, XM_017018175.1:c.*2800_*2807dup, XM_017018175.1:c.*2799_*2807dup, XM_017018175.1:c.*2798_*2807dup, XM_017018175.1:c.*2794_*2807dup, XM_017018175.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018177.3:c.*2797_*2807del, XM_017018177.3:c.*2798_*2807del, XM_017018177.3:c.*2799_*2807del, XM_017018177.3:c.*2800_*2807del, XM_017018177.3:c.*2802_*2807del, XM_017018177.3:c.*2803_*2807del, XM_017018177.3:c.*2805_*2807del, XM_017018177.3:c.*2806_*2807del, XM_017018177.3:c.*2807del, XM_017018177.3:c.*2807dup, XM_017018177.3:c.*2806_*2807dup, XM_017018177.3:c.*2805_*2807dup, XM_017018177.3:c.*2804_*2807dup, XM_017018177.3:c.*2803_*2807dup, XM_017018177.3:c.*2802_*2807dup, XM_017018177.3:c.*2801_*2807dup, XM_017018177.3:c.*2800_*2807dup, XM_017018177.3:c.*2799_*2807dup, XM_017018177.3:c.*2798_*2807dup, XM_017018177.3:c.*2794_*2807dup, XM_017018177.3:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018177.2:c.*2797_*2807del, XM_017018177.2:c.*2798_*2807del, XM_017018177.2:c.*2799_*2807del, XM_017018177.2:c.*2800_*2807del, XM_017018177.2:c.*2802_*2807del, XM_017018177.2:c.*2803_*2807del, XM_017018177.2:c.*2805_*2807del, XM_017018177.2:c.*2806_*2807del, XM_017018177.2:c.*2807del, XM_017018177.2:c.*2807dup, XM_017018177.2:c.*2806_*2807dup, XM_017018177.2:c.*2805_*2807dup, XM_017018177.2:c.*2804_*2807dup, XM_017018177.2:c.*2803_*2807dup, XM_017018177.2:c.*2802_*2807dup, XM_017018177.2:c.*2801_*2807dup, XM_017018177.2:c.*2800_*2807dup, XM_017018177.2:c.*2799_*2807dup, XM_017018177.2:c.*2798_*2807dup, XM_017018177.2:c.*2794_*2807dup, XM_017018177.2:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018177.1:c.*2797_*2807del, XM_017018177.1:c.*2798_*2807del, XM_017018177.1:c.*2799_*2807del, XM_017018177.1:c.*2800_*2807del, XM_017018177.1:c.*2802_*2807del, XM_017018177.1:c.*2803_*2807del, XM_017018177.1:c.*2805_*2807del, XM_017018177.1:c.*2806_*2807del, XM_017018177.1:c.*2807del, XM_017018177.1:c.*2807dup, XM_017018177.1:c.*2806_*2807dup, XM_017018177.1:c.*2805_*2807dup, XM_017018177.1:c.*2804_*2807dup, XM_017018177.1:c.*2803_*2807dup, XM_017018177.1:c.*2802_*2807dup, XM_017018177.1:c.*2801_*2807dup, XM_017018177.1:c.*2800_*2807dup, XM_017018177.1:c.*2799_*2807dup, XM_017018177.1:c.*2798_*2807dup, XM_017018177.1:c.*2794_*2807dup, XM_017018177.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018174.2:c.*2797_*2807del, XM_017018174.2:c.*2798_*2807del, XM_017018174.2:c.*2799_*2807del, XM_017018174.2:c.*2800_*2807del, XM_017018174.2:c.*2802_*2807del, XM_017018174.2:c.*2803_*2807del, XM_017018174.2:c.*2805_*2807del, XM_017018174.2:c.*2806_*2807del, XM_017018174.2:c.*2807del, XM_017018174.2:c.*2807dup, XM_017018174.2:c.*2806_*2807dup, XM_017018174.2:c.*2805_*2807dup, XM_017018174.2:c.*2804_*2807dup, XM_017018174.2:c.*2803_*2807dup, XM_017018174.2:c.*2802_*2807dup, XM_017018174.2:c.*2801_*2807dup, XM_017018174.2:c.*2800_*2807dup, XM_017018174.2:c.*2799_*2807dup, XM_017018174.2:c.*2798_*2807dup, XM_017018174.2:c.*2794_*2807dup, XM_017018174.2:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018174.1:c.*2797_*2807del, XM_017018174.1:c.*2798_*2807del, XM_017018174.1:c.*2799_*2807del, XM_017018174.1:c.*2800_*2807del, XM_017018174.1:c.*2802_*2807del, XM_017018174.1:c.*2803_*2807del, XM_017018174.1:c.*2805_*2807del, XM_017018174.1:c.*2806_*2807del, XM_017018174.1:c.*2807del, XM_017018174.1:c.*2807dup, XM_017018174.1:c.*2806_*2807dup, XM_017018174.1:c.*2805_*2807dup, XM_017018174.1:c.*2804_*2807dup, XM_017018174.1:c.*2803_*2807dup, XM_017018174.1:c.*2802_*2807dup, XM_017018174.1:c.*2801_*2807dup, XM_017018174.1:c.*2800_*2807dup, XM_017018174.1:c.*2799_*2807dup, XM_017018174.1:c.*2798_*2807dup, XM_017018174.1:c.*2794_*2807dup, XM_017018174.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018176.2:c.*2797_*2807del, XM_017018176.2:c.*2798_*2807del, XM_017018176.2:c.*2799_*2807del, XM_017018176.2:c.*2800_*2807del, XM_017018176.2:c.*2802_*2807del, XM_017018176.2:c.*2803_*2807del, XM_017018176.2:c.*2805_*2807del, XM_017018176.2:c.*2806_*2807del, XM_017018176.2:c.*2807del, XM_017018176.2:c.*2807dup, XM_017018176.2:c.*2806_*2807dup, XM_017018176.2:c.*2805_*2807dup, XM_017018176.2:c.*2804_*2807dup, XM_017018176.2:c.*2803_*2807dup, XM_017018176.2:c.*2802_*2807dup, XM_017018176.2:c.*2801_*2807dup, XM_017018176.2:c.*2800_*2807dup, XM_017018176.2:c.*2799_*2807dup, XM_017018176.2:c.*2798_*2807dup, XM_017018176.2:c.*2794_*2807dup, XM_017018176.2:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018176.1:c.*2797_*2807del, XM_017018176.1:c.*2798_*2807del, XM_017018176.1:c.*2799_*2807del, XM_017018176.1:c.*2800_*2807del, XM_017018176.1:c.*2802_*2807del, XM_017018176.1:c.*2803_*2807del, XM_017018176.1:c.*2805_*2807del, XM_017018176.1:c.*2806_*2807del, XM_017018176.1:c.*2807del, XM_017018176.1:c.*2807dup, XM_017018176.1:c.*2806_*2807dup, XM_017018176.1:c.*2805_*2807dup, XM_017018176.1:c.*2804_*2807dup, XM_017018176.1:c.*2803_*2807dup, XM_017018176.1:c.*2802_*2807dup, XM_017018176.1:c.*2801_*2807dup, XM_017018176.1:c.*2800_*2807dup, XM_017018176.1:c.*2799_*2807dup, XM_017018176.1:c.*2798_*2807dup, XM_017018176.1:c.*2794_*2807dup, XM_017018176.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018178.2:c.*2797_*2807del, XM_017018178.2:c.*2798_*2807del, XM_017018178.2:c.*2799_*2807del, XM_017018178.2:c.*2800_*2807del, XM_017018178.2:c.*2802_*2807del, XM_017018178.2:c.*2803_*2807del, XM_017018178.2:c.*2805_*2807del, XM_017018178.2:c.*2806_*2807del, XM_017018178.2:c.*2807del, XM_017018178.2:c.*2807dup, XM_017018178.2:c.*2806_*2807dup, XM_017018178.2:c.*2805_*2807dup, XM_017018178.2:c.*2804_*2807dup, XM_017018178.2:c.*2803_*2807dup, XM_017018178.2:c.*2802_*2807dup, XM_017018178.2:c.*2801_*2807dup, XM_017018178.2:c.*2800_*2807dup, XM_017018178.2:c.*2799_*2807dup, XM_017018178.2:c.*2798_*2807dup, XM_017018178.2:c.*2794_*2807dup, XM_017018178.2:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017018178.1:c.*2797_*2807del, XM_017018178.1:c.*2798_*2807del, XM_017018178.1:c.*2799_*2807del, XM_017018178.1:c.*2800_*2807del, XM_017018178.1:c.*2802_*2807del, XM_017018178.1:c.*2803_*2807del, XM_017018178.1:c.*2805_*2807del, XM_017018178.1:c.*2806_*2807del, XM_017018178.1:c.*2807del, XM_017018178.1:c.*2807dup, XM_017018178.1:c.*2806_*2807dup, XM_017018178.1:c.*2805_*2807dup, XM_017018178.1:c.*2804_*2807dup, XM_017018178.1:c.*2803_*2807dup, XM_017018178.1:c.*2802_*2807dup, XM_017018178.1:c.*2801_*2807dup, XM_017018178.1:c.*2800_*2807dup, XM_017018178.1:c.*2799_*2807dup, XM_017018178.1:c.*2798_*2807dup, XM_017018178.1:c.*2794_*2807dup, XM_017018178.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427493.1:c.*2797_*2807del, XM_047427493.1:c.*2798_*2807del, XM_047427493.1:c.*2799_*2807del, XM_047427493.1:c.*2800_*2807del, XM_047427493.1:c.*2802_*2807del, XM_047427493.1:c.*2803_*2807del, XM_047427493.1:c.*2805_*2807del, XM_047427493.1:c.*2806_*2807del, XM_047427493.1:c.*2807del, XM_047427493.1:c.*2807dup, XM_047427493.1:c.*2806_*2807dup, XM_047427493.1:c.*2805_*2807dup, XM_047427493.1:c.*2804_*2807dup, XM_047427493.1:c.*2803_*2807dup, XM_047427493.1:c.*2802_*2807dup, XM_047427493.1:c.*2801_*2807dup, XM_047427493.1:c.*2800_*2807dup, XM_047427493.1:c.*2799_*2807dup, XM_047427493.1:c.*2798_*2807dup, XM_047427493.1:c.*2794_*2807dup, XM_047427493.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427494.1:c.*2797_*2807del, XM_047427494.1:c.*2798_*2807del, XM_047427494.1:c.*2799_*2807del, XM_047427494.1:c.*2800_*2807del, XM_047427494.1:c.*2802_*2807del, XM_047427494.1:c.*2803_*2807del, XM_047427494.1:c.*2805_*2807del, XM_047427494.1:c.*2806_*2807del, XM_047427494.1:c.*2807del, XM_047427494.1:c.*2807dup, XM_047427494.1:c.*2806_*2807dup, XM_047427494.1:c.*2805_*2807dup, XM_047427494.1:c.*2804_*2807dup, XM_047427494.1:c.*2803_*2807dup, XM_047427494.1:c.*2802_*2807dup, XM_047427494.1:c.*2801_*2807dup, XM_047427494.1:c.*2800_*2807dup, XM_047427494.1:c.*2799_*2807dup, XM_047427494.1:c.*2798_*2807dup, XM_047427494.1:c.*2794_*2807dup, XM_047427494.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427492.1:c.*2797_*2807del, XM_047427492.1:c.*2798_*2807del, XM_047427492.1:c.*2799_*2807del, XM_047427492.1:c.*2800_*2807del, XM_047427492.1:c.*2802_*2807del, XM_047427492.1:c.*2803_*2807del, XM_047427492.1:c.*2805_*2807del, XM_047427492.1:c.*2806_*2807del, XM_047427492.1:c.*2807del, XM_047427492.1:c.*2807dup, XM_047427492.1:c.*2806_*2807dup, XM_047427492.1:c.*2805_*2807dup, XM_047427492.1:c.*2804_*2807dup, XM_047427492.1:c.*2803_*2807dup, XM_047427492.1:c.*2802_*2807dup, XM_047427492.1:c.*2801_*2807dup, XM_047427492.1:c.*2800_*2807dup, XM_047427492.1:c.*2799_*2807dup, XM_047427492.1:c.*2798_*2807dup, XM_047427492.1:c.*2794_*2807dup, XM_047427492.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427490.1:c.*2797_*2807del, XM_047427490.1:c.*2798_*2807del, XM_047427490.1:c.*2799_*2807del, XM_047427490.1:c.*2800_*2807del, XM_047427490.1:c.*2802_*2807del, XM_047427490.1:c.*2803_*2807del, XM_047427490.1:c.*2805_*2807del, XM_047427490.1:c.*2806_*2807del, XM_047427490.1:c.*2807del, XM_047427490.1:c.*2807dup, XM_047427490.1:c.*2806_*2807dup, XM_047427490.1:c.*2805_*2807dup, XM_047427490.1:c.*2804_*2807dup, XM_047427490.1:c.*2803_*2807dup, XM_047427490.1:c.*2802_*2807dup, XM_047427490.1:c.*2801_*2807dup, XM_047427490.1:c.*2800_*2807dup, XM_047427490.1:c.*2799_*2807dup, XM_047427490.1:c.*2798_*2807dup, XM_047427490.1:c.*2794_*2807dup, XM_047427490.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427488.1:c.*2797_*2807del, XM_047427488.1:c.*2798_*2807del, XM_047427488.1:c.*2799_*2807del, XM_047427488.1:c.*2800_*2807del, XM_047427488.1:c.*2802_*2807del, XM_047427488.1:c.*2803_*2807del, XM_047427488.1:c.*2805_*2807del, XM_047427488.1:c.*2806_*2807del, XM_047427488.1:c.*2807del, XM_047427488.1:c.*2807dup, XM_047427488.1:c.*2806_*2807dup, XM_047427488.1:c.*2805_*2807dup, XM_047427488.1:c.*2804_*2807dup, XM_047427488.1:c.*2803_*2807dup, XM_047427488.1:c.*2802_*2807dup, XM_047427488.1:c.*2801_*2807dup, XM_047427488.1:c.*2800_*2807dup, XM_047427488.1:c.*2799_*2807dup, XM_047427488.1:c.*2798_*2807dup, XM_047427488.1:c.*2794_*2807dup, XM_047427488.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427495.1:c.*2797_*2807del, XM_047427495.1:c.*2798_*2807del, XM_047427495.1:c.*2799_*2807del, XM_047427495.1:c.*2800_*2807del, XM_047427495.1:c.*2802_*2807del, XM_047427495.1:c.*2803_*2807del, XM_047427495.1:c.*2805_*2807del, XM_047427495.1:c.*2806_*2807del, XM_047427495.1:c.*2807del, XM_047427495.1:c.*2807dup, XM_047427495.1:c.*2806_*2807dup, XM_047427495.1:c.*2805_*2807dup, XM_047427495.1:c.*2804_*2807dup, XM_047427495.1:c.*2803_*2807dup, XM_047427495.1:c.*2802_*2807dup, XM_047427495.1:c.*2801_*2807dup, XM_047427495.1:c.*2800_*2807dup, XM_047427495.1:c.*2799_*2807dup, XM_047427495.1:c.*2798_*2807dup, XM_047427495.1:c.*2794_*2807dup, XM_047427495.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427491.1:c.*2797_*2807del, XM_047427491.1:c.*2798_*2807del, XM_047427491.1:c.*2799_*2807del, XM_047427491.1:c.*2800_*2807del, XM_047427491.1:c.*2802_*2807del, XM_047427491.1:c.*2803_*2807del, XM_047427491.1:c.*2805_*2807del, XM_047427491.1:c.*2806_*2807del, XM_047427491.1:c.*2807del, XM_047427491.1:c.*2807dup, XM_047427491.1:c.*2806_*2807dup, XM_047427491.1:c.*2805_*2807dup, XM_047427491.1:c.*2804_*2807dup, XM_047427491.1:c.*2803_*2807dup, XM_047427491.1:c.*2802_*2807dup, XM_047427491.1:c.*2801_*2807dup, XM_047427491.1:c.*2800_*2807dup, XM_047427491.1:c.*2799_*2807dup, XM_047427491.1:c.*2798_*2807dup, XM_047427491.1:c.*2794_*2807dup, XM_047427491.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047427489.1:c.*2797_*2807del, XM_047427489.1:c.*2798_*2807del, XM_047427489.1:c.*2799_*2807del, XM_047427489.1:c.*2800_*2807del, XM_047427489.1:c.*2802_*2807del, XM_047427489.1:c.*2803_*2807del, XM_047427489.1:c.*2805_*2807del, XM_047427489.1:c.*2806_*2807del, XM_047427489.1:c.*2807del, XM_047427489.1:c.*2807dup, XM_047427489.1:c.*2806_*2807dup, XM_047427489.1:c.*2805_*2807dup, XM_047427489.1:c.*2804_*2807dup, XM_047427489.1:c.*2803_*2807dup, XM_047427489.1:c.*2802_*2807dup, XM_047427489.1:c.*2801_*2807dup, XM_047427489.1:c.*2800_*2807dup, XM_047427489.1:c.*2799_*2807dup, XM_047427489.1:c.*2798_*2807dup, XM_047427489.1:c.*2794_*2807dup, XM_047427489.1:c.*2807_*2808insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909630116.

rs1490963011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66719086 (GRCh38)
11:66486557 (GRCh37)
Canonical SPDI:: NC_000011.10:66719085:A:G
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66719086A>G, NC_000011.9:g.66486557A>G, NG_016150.2:g.15276T>C

Select item 14909052617.

rs1490905261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66689283 (GRCh38)
11:66456754 (GRCh37)
Canonical SPDI:: NC_000011.10:66689282:C:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.66689283C>T, NC_000011.9:g.66456754C>T, NG_016150.2:g.45079G>A

Select item 14907432958.

rs1490743295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66704900 (GRCh38)
11:66472371 (GRCh37)
Canonical SPDI:: NC_000011.10:66704899:C:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.66704900C>T, NC_000011.9:g.66472371C>T, NG_016150.2:g.29462G>A, NM_006946.4:c.2376G>A, NM_006946.3:c.2376G>A, NM_006946.2:c.2376G>A, NM_001411025.1:c.2397G>A, XM_006718671.5:c.2376G>A, XM_006718671.4:c.2376G>A, XM_006718671.3:c.2376G>A, XM_006718671.2:c.2376G>A, XM_006718671.1:c.2376G>A, XM_005274193.4:c.2376G>A, XM_005274193.3:c.2376G>A, XM_005274193.2:c.2376G>A, XM_005274193.1:c.2376G>A, XM_006718669.4:c.2397G>A, XM_011545216.4:c.2397G>A, XM_011545216.3:c.2397G>A, XM_011545216.2:c.2397G>A, XM_011545216.1:c.2397G>A, XM_017018175.3:c.2376G>A, XM_017018175.2:c.2376G>A, XM_017018175.1:c.2376G>A, XM_017018177.3:c.2376G>A, XM_017018177.2:c.2376G>A, XM_017018177.1:c.2376G>A, XM_011545217.3:c.2397G>A, XM_011545217.2:c.2397G>A, XM_011545217.1:c.2397G>A, XM_017018174.2:c.2376G>A, XM_017018174.1:c.2376G>A, XM_017018176.2:c.2376G>A, XM_017018176.1:c.2376G>A, XM_017018178.2:c.2376G>A, XM_017018178.1:c.2376G>A, XM_047427493.1:c.2376G>A, XM_047427494.1:c.2376G>A, XM_047427492.1:c.2376G>A, XM_047427490.1:c.2376G>A, XM_047427488.1:c.2376G>A, XM_047427495.1:c.2376G>A, XM_047427491.1:c.2376G>A, XM_047427489.1:c.2376G>A, XM_047427496.1:c.2397G>A

Select item 14907199189.

rs1490719918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66704186 (GRCh38)
11:66471657 (GRCh37)
Canonical SPDI:: NC_000011.10:66704185:A:G
Gene:: SPTBN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66704186A>G, NC_000011.9:g.66471657A>G, NG_016150.2:g.30176T>C

Select item 149061966210.

rs1490619662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66689053 (GRCh38)
11:66456524 (GRCh37)
Canonical SPDI:: NC_000011.10:66689052:C:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.66689053C>T, NC_000011.9:g.66456524C>T, NG_016150.2:g.45309G>A

Select item 149059957511.

rs1490599575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66695863 (GRCh38)
11:66463334 (GRCh37)
Canonical SPDI:: NC_000011.10:66695862:A:G
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66695863A>G, NC_000011.9:g.66463334A>G, NG_016150.2:g.38499T>C

Select item 149056377912.

rs1490563779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66689081 (GRCh38)
11:66456552 (GRCh37)
Canonical SPDI:: NC_000011.10:66689080:C:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.66689081C>T, NC_000011.9:g.66456552C>T, NG_016150.2:g.45281G>A

Select item 149053094813.

rs1490530948 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGG [Show Flanks]
Chromosome:: 11:66702919 (GRCh38)
11:66470391 (GRCh37)
Canonical SPDI:: NC_000011.10:66702919::TGG
Gene:: SPTBN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TGG=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.66702919_66702920insTGG, NC_000011.9:g.66470390_66470391insTGG, NG_016150.2:g.31442_31443insCCA

Select item 149038401214.

rs1490384012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66722218 (GRCh38)
11:66489689 (GRCh37)
Canonical SPDI:: NC_000011.10:66722217:T:C
Gene:: SPTBN2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66722218T>C, NC_000011.9:g.66489689T>C, NG_016150.2:g.12144A>G, XM_047427493.1:c.-891A>G, XM_047427494.1:c.-891A>G, XM_047427492.1:c.-891A>G

Select item 149033935015.

rs1490339350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66686971 (GRCh38)
11:66454442 (GRCh37)
Canonical SPDI:: NC_000011.10:66686970:A:G
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.66686971A>G, NC_000011.9:g.66454442A>G, NG_016150.2:g.47391T>C

Select item 149028056516.

rs1490280565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66689091 (GRCh38)
11:66456562 (GRCh37)
Canonical SPDI:: NC_000011.10:66689090:C:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.66689091C>T, NC_000011.9:g.66456562C>T, NG_016150.2:g.45271G>A

Select item 149025399817.

rs1490253998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66687399 (GRCh38)
11:66454870 (GRCh37)
Canonical SPDI:: NC_000011.10:66687398:C:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.66687399C>T, NC_000011.9:g.66454870C>T, NG_016150.2:g.46963G>A

Select item 149022819518.

rs1490228195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66688169 (GRCh38)
11:66455640 (GRCh37)
Canonical SPDI:: NC_000011.10:66688168:C:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.66688169C>T, NC_000011.9:g.66455640C>T, NG_016150.2:g.46193G>A, NM_006946.4:c.6374G>A, NM_006946.3:c.6374G>A, NM_006946.2:c.6374G>A, NM_001411025.1:c.6395G>A, XM_006718671.5:c.6374G>A, XM_006718671.4:c.6374G>A, XM_006718671.3:c.6374G>A, XM_006718671.2:c.6374G>A, XM_006718671.1:c.6374G>A, XM_005274193.4:c.6374G>A, XM_005274193.3:c.6374G>A, XM_005274193.2:c.6374G>A, XM_005274193.1:c.6374G>A, XM_006718669.4:c.6395G>A, XM_017018175.3:c.6374G>A, XM_017018175.2:c.6374G>A, XM_017018175.1:c.6374G>A, XM_017018177.3:c.6374G>A, XM_017018177.2:c.6374G>A, XM_017018177.1:c.6374G>A, XM_017018174.2:c.6374G>A, XM_017018174.1:c.6374G>A, XM_017018176.2:c.6374G>A, XM_017018176.1:c.6374G>A, XM_017018178.2:c.6374G>A, XM_017018178.1:c.6374G>A, XM_047427493.1:c.6374G>A, XM_047427494.1:c.6374G>A, XM_047427492.1:c.6374G>A, XM_047427490.1:c.6374G>A, XM_047427488.1:c.6374G>A, XM_047427495.1:c.6374G>A, XM_047427491.1:c.6374G>A, XM_047427489.1:c.6374G>A, XM_047427496.1:c.6395G>A, NP_008877.2:p.Gly2125Glu, XP_006718734.1:p.Gly2125Glu, XP_005274250.1:p.Gly2125Glu, XP_006718732.1:p.Gly2132Glu, XP_016873664.1:p.Gly2125Glu, XP_016873666.1:p.Gly2125Glu, XP_016873663.1:p.Gly2125Glu, XP_016873665.1:p.Gly2125Glu, XP_016873667.1:p.Gly2125Glu, XP_047283449.1:p.Gly2125Glu, XP_047283450.1:p.Gly2125Glu, XP_047283448.1:p.Gly2125Glu, XP_047283446.1:p.Gly2125Glu, XP_047283444.1:p.Gly2125Glu, XP_047283451.1:p.Gly2125Glu, XP_047283447.1:p.Gly2125Glu, XP_047283445.1:p.Gly2125Glu, XP_047283452.1:p.Gly2132Glu

Select item 149022041919.

rs1490220419 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:66722709 (GRCh38)
11:66490180 (GRCh37)
Canonical SPDI:: NC_000011.10:66722708:C:
Gene:: SPTBN2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66722709del, NC_000011.9:g.66490180del, NG_016150.2:g.11653del, XM_047427493.1:c.-1382del, XM_047427494.1:c.-1382del, XM_047427492.1:c.-1382del

Select item 149003486120.

rs1490034861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66702933 (GRCh38)
11:66470404 (GRCh37)
Canonical SPDI:: NC_000011.10:66702932:G:A,NC_000011.10:66702932:G:T
Gene:: SPTBN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/3 (GnomAD)
HGVS:: NC_000011.10:g.66702933G>A, NC_000011.10:g.66702933G>T, NC_000011.9:g.66470404G>A, NC_000011.9:g.66470404G>T, NG_016150.2:g.31429C>T, NG_016150.2:g.31429C>A

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