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Select item 14915764761.

rs1491576476 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:109958917 (GRCh38)
4:110880073 (GRCh37)
Canonical SPDI:: NC_000004.12:109958916:CA:
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00337/40 (ALFA)
-=0.00078/22 (TOMMO)
-=0.0017/3 (Korea1K)
HGVS:: NC_000004.12:g.109958917_109958918del, NC_000004.11:g.110880073_110880074del, NG_011441.2:g.51034_51035del

Select item 14913822142.

rs1491382214 has merged into rs371512157 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:109970835 (GRCh38)
4:110891991 (GRCh37)
Canonical SPDI:: NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109970824:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000004.12:g.109970835_109970846del, NC_000004.12:g.109970837_109970846del, NC_000004.12:g.109970840_109970846del, NC_000004.12:g.109970841_109970846del, NC_000004.12:g.109970842_109970846del, NC_000004.12:g.109970843_109970846del, NC_000004.12:g.109970844_109970846del, NC_000004.12:g.109970845_109970846del, NC_000004.12:g.109970846del, NC_000004.12:g.109970846dup, NC_000004.12:g.109970845_109970846dup, NC_000004.12:g.109970844_109970846dup, NC_000004.12:g.109970843_109970846dup, NC_000004.12:g.109970842_109970846dup, NC_000004.12:g.109970841_109970846dup, NC_000004.12:g.109970840_109970846dup, NC_000004.12:g.109970839_109970846dup, NC_000004.12:g.109970838_109970846dup, NC_000004.12:g.109970837_109970846dup, NC_000004.12:g.109970836_109970846dup, NC_000004.12:g.109970835_109970846dup, NC_000004.12:g.109970834_109970846dup, NC_000004.12:g.109970833_109970846dup, NC_000004.12:g.109970832_109970846dup, NC_000004.12:g.109970831_109970846dup, NC_000004.12:g.109970830_109970846dup, NC_000004.12:g.109970829_109970846dup, NC_000004.12:g.109970828_109970846dup, NC_000004.12:g.109970827_109970846dup, NC_000004.12:g.109970825_109970846dup, NC_000004.12:g.109970846_109970847insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.109970846_109970847insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.110891991_110892002del, NC_000004.11:g.110891993_110892002del, NC_000004.11:g.110891996_110892002del, NC_000004.11:g.110891997_110892002del, NC_000004.11:g.110891998_110892002del, NC_000004.11:g.110891999_110892002del, NC_000004.11:g.110892000_110892002del, NC_000004.11:g.110892001_110892002del, NC_000004.11:g.110892002del, NC_000004.11:g.110892002dup, NC_000004.11:g.110892001_110892002dup, NC_000004.11:g.110892000_110892002dup, NC_000004.11:g.110891999_110892002dup, NC_000004.11:g.110891998_110892002dup, NC_000004.11:g.110891997_110892002dup, NC_000004.11:g.110891996_110892002dup, NC_000004.11:g.110891995_110892002dup, NC_000004.11:g.110891994_110892002dup, NC_000004.11:g.110891993_110892002dup, NC_000004.11:g.110891992_110892002dup, NC_000004.11:g.110891991_110892002dup, NC_000004.11:g.110891990_110892002dup, NC_000004.11:g.110891989_110892002dup, NC_000004.11:g.110891988_110892002dup, NC_000004.11:g.110891987_110892002dup, NC_000004.11:g.110891986_110892002dup, NC_000004.11:g.110891985_110892002dup, NC_000004.11:g.110891984_110892002dup, NC_000004.11:g.110891983_110892002dup, NC_000004.11:g.110891981_110892002dup, NC_000004.11:g.110892002_110892003insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.110892002_110892003insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011441.2:g.62952_62963del, NG_011441.2:g.62954_62963del, NG_011441.2:g.62957_62963del, NG_011441.2:g.62958_62963del, NG_011441.2:g.62959_62963del, NG_011441.2:g.62960_62963del, NG_011441.2:g.62961_62963del, NG_011441.2:g.62962_62963del, NG_011441.2:g.62963del, NG_011441.2:g.62963dup, NG_011441.2:g.62962_62963dup, NG_011441.2:g.62961_62963dup, NG_011441.2:g.62960_62963dup, NG_011441.2:g.62959_62963dup, NG_011441.2:g.62958_62963dup, NG_011441.2:g.62957_62963dup, NG_011441.2:g.62956_62963dup, NG_011441.2:g.62955_62963dup, NG_011441.2:g.62954_62963dup, NG_011441.2:g.62953_62963dup, NG_011441.2:g.62952_62963dup, NG_011441.2:g.62951_62963dup, NG_011441.2:g.62950_62963dup, NG_011441.2:g.62949_62963dup, NG_011441.2:g.62948_62963dup, NG_011441.2:g.62947_62963dup, NG_011441.2:g.62946_62963dup, NG_011441.2:g.62945_62963dup, NG_011441.2:g.62944_62963dup, NG_011441.2:g.62942_62963dup, NG_011441.2:g.62963_62964insAAAAAAAAAAAAAAAAAAAAAAAA, NG_011441.2:g.62963_62964insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913666923.

rs1491366692 has merged into rs1553948183 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 4:110004215 (GRCh38)
4:110925371 (GRCh37)
Canonical SPDI:: NC_000004.12:110004213:ATA:A,NC_000004.12:110004213:ATA:ATATA
Gene:: EGF (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.010875/129 (ALFA)
-=0.009847/18 (Korea1K)
-=0.012776/213 (TOMMO)
-=0.018635/1987 (GnomAD)
-=0.228235/1143 (1000Genomes)
HGVS:: NC_000004.12:g.110004215_110004216del, NC_000004.12:g.110004215_110004216dup, NC_000004.11:g.110925371_110925372del, NC_000004.11:g.110925371_110925372dup, NG_011441.2:g.96332_96333del, NG_011441.2:g.96332_96333dup

Select item 14913406844.

rs1491340684 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14913173135.

rs1491317313 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:109970824 (GRCh38)
4:110891980 (GRCh37)
Canonical SPDI:: NC_000004.12:109970823:CA:
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.109970824_109970825del, NC_000004.11:g.110891980_110891981del, NG_011441.2:g.62941_62942del

Select item 14913078536.

rs1491307853 has merged into rs888007271 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:109969606 (GRCh38)
4:110890762 (GRCh37)
Canonical SPDI:: NC_000004.12:109969605:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:109969605:AAAAAAAAAA:AAAAAAAAAAA
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.00032/9 (TOMMO)
HGVS:: NC_000004.12:g.109969615del, NC_000004.12:g.109969615dup, NC_000004.11:g.110890771del, NC_000004.11:g.110890771dup, NG_011441.2:g.61732del, NG_011441.2:g.61732dup

Select item 14912133987.

rs1491213398 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA,GAGA [Show Flanks]
Chromosome:: 4:109927848 (GRCh38)
4:110849005 (GRCh37)
Canonical SPDI:: NC_000004.12:109927848:GA:GAGA,NC_000004.12:109927848:GA:GAGAGA
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0.001804/21 (ALFA)
GA=0.0011/18 (TOMMO)
GA=0.001639/3 (Korea1K)
GA=0.013759/1813 (GnomAD)
HGVS:: NC_000004.12:g.109927849_109927850dup, NC_000004.12:g.109927849GA[3], NC_000004.11:g.110849005_110849006dup, NC_000004.11:g.110849005GA[3], NG_011441.2:g.19966_19967dup, NG_011441.2:g.19966GA[3]

Select item 14911856918.

rs1491185691 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:110000250 (GRCh38)
4:110921406 (GRCh37)
Canonical SPDI:: NC_000004.12:110000249:CA:
Gene:: EGF (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00413/49 (ALFA)
-=0.00013/11 (GnomAD)
HGVS:: NC_000004.12:g.110000250_110000251del, NC_000004.11:g.110921406_110921407del, NG_011441.2:g.92367_92368del

Select item 14911731529.

rs1491173152 has merged into rs754279332 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:110000259 (GRCh38)
4:110921415 (GRCh37)
Canonical SPDI:: NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:110000250:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EGF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.065/36 (NorthernSweden)
HGVS:: NC_000004.12:g.110000259_110000270del, NC_000004.12:g.110000261_110000270del, NC_000004.12:g.110000264_110000270del, NC_000004.12:g.110000265_110000270del, NC_000004.12:g.110000266_110000270del, NC_000004.12:g.110000267_110000270del, NC_000004.12:g.110000268_110000270del, NC_000004.12:g.110000269_110000270del, NC_000004.12:g.110000270del, NC_000004.12:g.110000270dup, NC_000004.12:g.110000269_110000270dup, NC_000004.12:g.110000268_110000270dup, NC_000004.12:g.110000267_110000270dup, NC_000004.12:g.110000253_110000270dup, NC_000004.11:g.110921415_110921426del, NC_000004.11:g.110921417_110921426del, NC_000004.11:g.110921420_110921426del, NC_000004.11:g.110921421_110921426del, NC_000004.11:g.110921422_110921426del, NC_000004.11:g.110921423_110921426del, NC_000004.11:g.110921424_110921426del, NC_000004.11:g.110921425_110921426del, NC_000004.11:g.110921426del, NC_000004.11:g.110921426dup, NC_000004.11:g.110921425_110921426dup, NC_000004.11:g.110921424_110921426dup, NC_000004.11:g.110921423_110921426dup, NC_000004.11:g.110921409_110921426dup, NG_011441.2:g.92376_92387del, NG_011441.2:g.92378_92387del, NG_011441.2:g.92381_92387del, NG_011441.2:g.92382_92387del, NG_011441.2:g.92383_92387del, NG_011441.2:g.92384_92387del, NG_011441.2:g.92385_92387del, NG_011441.2:g.92386_92387del, NG_011441.2:g.92387del, NG_011441.2:g.92387dup, NG_011441.2:g.92386_92387dup, NG_011441.2:g.92385_92387dup, NG_011441.2:g.92384_92387dup, NG_011441.2:g.92370_92387dup

Select item 149112704010.

rs1491127040 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,ATGT,ATGTGT,ATGTGTGT,ATGTGTGTGT,ATGTGTGTGTGT [Show Flanks]
Chromosome:: 4:109927806 (GRCh38)
4:110848963 (GRCh37)
Canonical SPDI:: NC_000004.12:109927806::AT,NC_000004.12:109927806::ATGT,NC_000004.12:109927806::ATGTGT,NC_000004.12:109927806::ATGTGTGT,NC_000004.12:109927806::ATGTGTGTGT,NC_000004.12:109927806::ATGTGTGTGTGT
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.109927806_109927807insAT, NC_000004.12:g.109927806_109927807insATGT, NC_000004.12:g.109927806_109927807insATGTGT, NC_000004.12:g.109927806_109927807insATGTGTGT, NC_000004.12:g.109927806_109927807insATGTGTGTGT, NC_000004.12:g.109927806_109927807insATGTGTGTGTGT, NC_000004.11:g.110848962_110848963insAT, NC_000004.11:g.110848962_110848963insATGT, NC_000004.11:g.110848962_110848963insATGTGT, NC_000004.11:g.110848962_110848963insATGTGTGT, NC_000004.11:g.110848962_110848963insATGTGTGTGT, NC_000004.11:g.110848962_110848963insATGTGTGTGTGT, NG_011441.2:g.19923_19924insAT, NG_011441.2:g.19923_19924insATGT, NG_011441.2:g.19923_19924insATGTGT, NG_011441.2:g.19923_19924insATGTGTGT, NG_011441.2:g.19923_19924insATGTGTGTGT, NG_011441.2:g.19923_19924insATGTGTGTGTGT

Select item 149111374511.

rs1491113745 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 4:109927806 (GRCh38)
4:110848962 (GRCh37)
Canonical SPDI:: NC_000004.12:109927805:CG:
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.0002/15 (GnomAD)
HGVS:: NC_000004.12:g.109927806_109927807del, NC_000004.11:g.110848962_110848963del, NG_011441.2:g.19923_19924del

Select item 149108566112.

rs1491085661 has merged into rs200891546 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:109988207 (GRCh38)
4:110909363 (GRCh37)
Canonical SPDI:: NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109988192:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EGF (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2391/143 (NorthernSweden)
-=0.2907/1456 (1000Genomes)
HGVS:: NC_000004.12:g.109988207_109988210del, NC_000004.12:g.109988208_109988210del, NC_000004.12:g.109988209_109988210del, NC_000004.12:g.109988210del, NC_000004.12:g.109988210dup, NC_000004.12:g.109988209_109988210dup, NC_000004.12:g.109988208_109988210dup, NC_000004.12:g.109988207_109988210dup, NC_000004.12:g.109988206_109988210dup, NC_000004.12:g.109988200_109988210dup, NC_000004.11:g.110909363_110909366del, NC_000004.11:g.110909364_110909366del, NC_000004.11:g.110909365_110909366del, NC_000004.11:g.110909366del, NC_000004.11:g.110909366dup, NC_000004.11:g.110909365_110909366dup, NC_000004.11:g.110909364_110909366dup, NC_000004.11:g.110909363_110909366dup, NC_000004.11:g.110909362_110909366dup, NC_000004.11:g.110909356_110909366dup, NG_011441.2:g.80324_80327del, NG_011441.2:g.80325_80327del, NG_011441.2:g.80326_80327del, NG_011441.2:g.80327del, NG_011441.2:g.80327dup, NG_011441.2:g.80326_80327dup, NG_011441.2:g.80325_80327dup, NG_011441.2:g.80324_80327dup, NG_011441.2:g.80323_80327dup, NG_011441.2:g.80317_80327dup

Select item 149108519913.

rs1491085199 has merged into rs199713631 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:109986759 (GRCh38)
4:110907915 (GRCh37)
Canonical SPDI:: NC_000004.12:109986748:AAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:109986748:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:109986748:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:109986748:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: EGF (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1/4 (GENOME_DK)
A=0.19569/980 (1000Genomes)
HGVS:: NC_000004.12:g.109986759_109986760del, NC_000004.12:g.109986760del, NC_000004.12:g.109986760dup, NC_000004.12:g.109986759_109986760dup, NC_000004.11:g.110907915_110907916del, NC_000004.11:g.110907916del, NC_000004.11:g.110907916dup, NC_000004.11:g.110907915_110907916dup, NG_011441.2:g.78876_78877del, NG_011441.2:g.78877del, NG_011441.2:g.78877dup, NG_011441.2:g.78876_78877dup

Select item 149104227914.

rs1491042279 has merged into rs772189572 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 4:110004231 (GRCh38)
4:110925387 (GRCh37)
Canonical SPDI:: NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:110004215:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: EGF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000004.12:g.110004217CA[7], NC_000004.12:g.110004217CA[10], NC_000004.12:g.110004217CA[11], NC_000004.12:g.110004217CA[12], NC_000004.12:g.110004217CA[13], NC_000004.12:g.110004217CA[14], NC_000004.12:g.110004217CA[15], NC_000004.12:g.110004217CA[16], NC_000004.12:g.110004217CA[17], NC_000004.12:g.110004217CA[19], NC_000004.12:g.110004217CA[20], NC_000004.12:g.110004217CA[21], NC_000004.12:g.110004217CA[22], NC_000004.12:g.110004217CA[23], NC_000004.12:g.110004217CA[24], NC_000004.12:g.110004217CA[26], NC_000004.12:g.110004217CA[29], NC_000004.12:g.110004217CA[31], NC_000004.11:g.110925373CA[7], NC_000004.11:g.110925373CA[10], NC_000004.11:g.110925373CA[11], NC_000004.11:g.110925373CA[12], NC_000004.11:g.110925373CA[13], NC_000004.11:g.110925373CA[14], NC_000004.11:g.110925373CA[15], NC_000004.11:g.110925373CA[16], NC_000004.11:g.110925373CA[17], NC_000004.11:g.110925373CA[19], NC_000004.11:g.110925373CA[20], NC_000004.11:g.110925373CA[21], NC_000004.11:g.110925373CA[22], NC_000004.11:g.110925373CA[23], NC_000004.11:g.110925373CA[24], NC_000004.11:g.110925373CA[26], NC_000004.11:g.110925373CA[29], NC_000004.11:g.110925373CA[31], NG_011441.2:g.96334CA[7], NG_011441.2:g.96334CA[10], NG_011441.2:g.96334CA[11], NG_011441.2:g.96334CA[12], NG_011441.2:g.96334CA[13], NG_011441.2:g.96334CA[14], NG_011441.2:g.96334CA[15], NG_011441.2:g.96334CA[16], NG_011441.2:g.96334CA[17], NG_011441.2:g.96334CA[19], NG_011441.2:g.96334CA[20], NG_011441.2:g.96334CA[21], NG_011441.2:g.96334CA[22], NG_011441.2:g.96334CA[23], NG_011441.2:g.96334CA[24], NG_011441.2:g.96334CA[26], NG_011441.2:g.96334CA[29], NG_011441.2:g.96334CA[31]

Select item 149103973015.

rs1491039730 has merged into rs36009201 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:109918268 (GRCh38)
4:110839424 (GRCh37)
Canonical SPDI:: NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:109918255:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3/12 (GENOME_DK)
T=0.4311/2159 (1000Genomes)
HGVS:: NC_000004.12:g.109918268_109918271del, NC_000004.12:g.109918269_109918271del, NC_000004.12:g.109918270_109918271del, NC_000004.12:g.109918271del, NC_000004.12:g.109918271dup, NC_000004.12:g.109918270_109918271dup, NC_000004.12:g.109918269_109918271dup, NC_000004.12:g.109918268_109918271dup, NC_000004.12:g.109918260_109918271dup, NC_000004.11:g.110839424_110839427del, NC_000004.11:g.110839425_110839427del, NC_000004.11:g.110839426_110839427del, NC_000004.11:g.110839427del, NC_000004.11:g.110839427dup, NC_000004.11:g.110839426_110839427dup, NC_000004.11:g.110839425_110839427dup, NC_000004.11:g.110839424_110839427dup, NC_000004.11:g.110839416_110839427dup, NG_011441.2:g.10385_10388del, NG_011441.2:g.10386_10388del, NG_011441.2:g.10387_10388del, NG_011441.2:g.10388del, NG_011441.2:g.10388dup, NG_011441.2:g.10387_10388dup, NG_011441.2:g.10386_10388dup, NG_011441.2:g.10385_10388dup, NG_011441.2:g.10377_10388dup

Select item 149103160816.

rs1491031608 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATC,CATC [Show Flanks]
Chromosome:: 4:109968672 (GRCh38)
4:110889829 (GRCh37)
Canonical SPDI:: NC_000004.12:109968672:CATC:CATCATC,NC_000004.12:109968672:CATC:CATCCATC
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CATC=0.00004/3 (GnomAD)
HGVS:: NC_000004.12:g.109968674_109968676dup, NC_000004.12:g.109968673_109968676dup, NC_000004.11:g.110889830_110889832dup, NC_000004.11:g.110889829_110889832dup, NG_011441.2:g.60791_60793dup, NG_011441.2:g.60790_60793dup

Select item 149093472517.

rs1490934725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:110002001 (GRCh38)
4:110923157 (GRCh37)
Canonical SPDI:: NC_000004.12:110002000:A:G
Gene:: EGF (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.110002001A>G, NC_000004.11:g.110923157A>G, NG_011441.2:g.94118A>G

Select item 149092238918.

rs1490922389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:109973600 (GRCh38)
4:110894756 (GRCh37)
Canonical SPDI:: NC_000004.12:109973599:C:A
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109973600C>A, NC_000004.11:g.110894756C>A, NG_011441.2:g.65717C>A

Select item 149090359319.

rs1490903593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109969460 (GRCh38)
4:110890616 (GRCh37)
Canonical SPDI:: NC_000004.12:109969459:G:A
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109969460G>A, NC_000004.11:g.110890616G>A, NG_011441.2:g.61577G>A

Select item 149088922020.

rs1490889220 has merged into rs10530188 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTATCTATCTATCTA>-,TCTA,TCTATCTA,TCTATCTATCTA,TCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA [Show Flanks]
Chromosome:: 4:109968695 (GRCh38)
4:110889851 (GRCh37)
Canonical SPDI:: NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000004.12:109968673:ATCTATCTATCTATCTATCTATCTATCTATCTATCTA:ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA
Gene:: EGF (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: ATCTATCTATCTATCTATCTATCTA=0./0 (ALFA)
HGVS:: NC_000004.12:g.109968675TCTA[5], NC_000004.12:g.109968675TCTA[6], NC_000004.12:g.109968675TCTA[7], NC_000004.12:g.109968675TCTA[8], NC_000004.12:g.109968675TCTA[10], NC_000004.12:g.109968675TCTA[11], NC_000004.12:g.109968675TCTA[12], NC_000004.12:g.109968675TCTA[13], NC_000004.12:g.109968675TCTA[14], NC_000004.12:g.109968675TCTA[15], NC_000004.12:g.109968675TCTA[16], NC_000004.12:g.109968675TCTA[17], NC_000004.11:g.110889831TCTA[5], NC_000004.11:g.110889831TCTA[6], NC_000004.11:g.110889831TCTA[7], NC_000004.11:g.110889831TCTA[8], NC_000004.11:g.110889831TCTA[10], NC_000004.11:g.110889831TCTA[11], NC_000004.11:g.110889831TCTA[12], NC_000004.11:g.110889831TCTA[13], NC_000004.11:g.110889831TCTA[14], NC_000004.11:g.110889831TCTA[15], NC_000004.11:g.110889831TCTA[16], NC_000004.11:g.110889831TCTA[17], NG_011441.2:g.60792TCTA[5], NG_011441.2:g.60792TCTA[6], NG_011441.2:g.60792TCTA[7], NG_011441.2:g.60792TCTA[8], NG_011441.2:g.60792TCTA[10], NG_011441.2:g.60792TCTA[11], NG_011441.2:g.60792TCTA[12], NG_011441.2:g.60792TCTA[13], NG_011441.2:g.60792TCTA[14], NG_011441.2:g.60792TCTA[15], NG_011441.2:g.60792TCTA[16], NG_011441.2:g.60792TCTA[17]

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