SNP Links for Protein (Select 34303939) - SNP

Links from Protein

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Select item 14895055331.

rs1489505533 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCA [Show Flanks]
Chromosome:: 15:41195841 (GRCh38)
15:41488040 (GRCh37)
Canonical SPDI:: NC_000015.10:41195841:CAATCA:CAATCAATCA
Gene:: EXD1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAATCAATCA=0./0 (ALFA)
CAAT=0.000007/1 (GnomAD)
CAAT=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.41195844_41195847dup, NC_000015.9:g.41488042_41488045dup, NM_152596.4:c.476_479dup, NM_152596.3:c.476_479dup, NM_152596.2:c.476_479dup, XM_011521298.3:c.650_653dup, XM_011521298.2:c.650_653dup, XM_011521298.1:c.650_653dup, XM_011521301.3:c.545_548dup, XM_011521301.2:c.545_548dup, XM_011521301.1:c.545_548dup, XM_011521300.3:c.368_371dup, XM_011521300.2:c.368_371dup, XM_011521300.1:c.368_371dup, XM_011521302.3:c.41_44dup, XM_011521302.2:c.41_44dup, XM_011521302.1:c.41_44dup, NM_001286441.2:c.650_653dup, NM_001286441.1:c.650_653dup, XM_017021970.2:c.368_371dup, XM_017021970.1:c.368_371dup, XM_017021971.2:c.368_371dup, XM_017021971.1:c.368_371dup, NM_001385036.1:c.581_584dup, XM_047432211.1:c.368_371dup, XM_047432209.1:c.488_491dup, XM_047432210.1:c.476_479dup, NP_689809.2:p.Cys160Ter, XP_011519600.1:p.Cys218Ter, XP_011519603.1:p.Cys183Ter, XP_011519602.1:p.Cys124Ter, XP_011519604.1:p.Cys15Ter, NP_001273370.1:p.Cys218Ter, XP_016877459.1:p.Cys124Ter, XP_016877460.1:p.Cys124Ter, NP_001371965.1:p.Cys195Ter, XP_047288167.1:p.Cys124Ter, XP_047288165.1:p.Cys164Ter, XP_047288166.1:p.Cys160Ter

Select item 14890840022.

rs1489084002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:41184402 (GRCh38)
15:41476600 (GRCh37)
Canonical SPDI:: NC_000015.10:41184401:T:G
Gene:: EXD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41184402T>G, NC_000015.9:g.41476600T>G, NM_152596.4:c.1074A>C, NM_152596.3:c.1074A>C, NM_152596.2:c.1074A>C, XM_011521298.3:c.1248A>C, XM_011521298.2:c.1248A>C, XM_011521298.1:c.1248A>C, XM_011521301.3:c.1143A>C, XM_011521301.2:c.1143A>C, XM_011521301.1:c.1143A>C, XM_011521300.3:c.966A>C, XM_011521300.2:c.966A>C, XM_011521300.1:c.966A>C, XM_011521302.3:c.639A>C, XM_011521302.2:c.639A>C, XM_011521302.1:c.639A>C, NM_001286441.2:c.1248A>C, NM_001286441.1:c.1248A>C, XM_017021970.2:c.966A>C, XM_017021970.1:c.966A>C, XM_017021971.2:c.966A>C, XM_017021971.1:c.966A>C, NM_001385036.1:c.1179A>C, XM_047432211.1:c.966A>C, XM_047432209.1:c.1086A>C, XM_047432210.1:c.1074A>C, NP_689809.2:p.Lys358Asn, XP_011519600.1:p.Lys416Asn, XP_011519603.1:p.Lys381Asn, XP_011519602.1:p.Lys322Asn, XP_011519604.1:p.Lys213Asn, NP_001273370.1:p.Lys416Asn, XP_016877459.1:p.Lys322Asn, XP_016877460.1:p.Lys322Asn, NP_001371965.1:p.Lys393Asn, XP_047288167.1:p.Lys322Asn, XP_047288165.1:p.Lys362Asn, XP_047288166.1:p.Lys358Asn

Select item 14849976143.

rs1484997614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:41216711 (GRCh38)
15:41508909 (GRCh37)
Canonical SPDI:: NC_000015.10:41216710:T:C
Gene:: EXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41216711T>C, NC_000015.9:g.41508909T>C, NM_152596.4:c.171A>G, NM_152596.3:c.171A>G, NM_152596.2:c.171A>G, XM_011521298.3:c.345A>G, XM_011521298.2:c.345A>G, XM_011521298.1:c.345A>G, XM_011521301.3:c.240A>G, XM_011521301.2:c.240A>G, XM_011521301.1:c.240A>G, XM_011521300.3:c.63A>G, XM_011521300.2:c.63A>G, XM_011521300.1:c.63A>G, NM_001286441.2:c.345A>G, NM_001286441.1:c.345A>G, XM_017021970.2:c.63A>G, XM_017021970.1:c.63A>G, XM_017021971.2:c.63A>G, XM_017021971.1:c.63A>G, NM_001385036.1:c.276A>G, XM_047432211.1:c.63A>G, XM_047432209.1:c.183A>G, XM_047432210.1:c.171A>G

Select item 14844115334.

rs1484411533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:41184315 (GRCh38)
15:41476513 (GRCh37)
Canonical SPDI:: NC_000015.10:41184314:T:A
Gene:: EXD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41184315T>A, NC_000015.9:g.41476513T>A, NM_152596.4:c.1161A>T, NM_152596.3:c.1161A>T, NM_152596.2:c.1161A>T, XM_011521298.3:c.1335A>T, XM_011521298.2:c.1335A>T, XM_011521298.1:c.1335A>T, XM_011521301.3:c.1230A>T, XM_011521301.2:c.1230A>T, XM_011521301.1:c.1230A>T, XM_011521300.3:c.1053A>T, XM_011521300.2:c.1053A>T, XM_011521300.1:c.1053A>T, XM_011521302.3:c.726A>T, XM_011521302.2:c.726A>T, XM_011521302.1:c.726A>T, NM_001286441.2:c.1335A>T, NM_001286441.1:c.1335A>T, XM_017021970.2:c.1053A>T, XM_017021970.1:c.1053A>T, XM_017021971.2:c.1053A>T, XM_017021971.1:c.1053A>T, NM_001385036.1:c.1266A>T, XM_047432211.1:c.1053A>T, XM_047432209.1:c.1173A>T, XM_047432210.1:c.1161A>T, NP_689809.2:p.Lys387Asn, XP_011519600.1:p.Lys445Asn, XP_011519603.1:p.Lys410Asn, XP_011519602.1:p.Lys351Asn, XP_011519604.1:p.Lys242Asn, NP_001273370.1:p.Lys445Asn, XP_016877459.1:p.Lys351Asn, XP_016877460.1:p.Lys351Asn, NP_001371965.1:p.Lys422Asn, XP_047288167.1:p.Lys351Asn, XP_047288165.1:p.Lys391Asn, XP_047288166.1:p.Lys387Asn

Select item 14825186605.

rs1482518660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:41184496 (GRCh38)
15:41476694 (GRCh37)
Canonical SPDI:: NC_000015.10:41184495:T:C
Gene:: EXD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41184496T>C, NC_000015.9:g.41476694T>C, NM_152596.4:c.980A>G, NM_152596.3:c.980A>G, NM_152596.2:c.980A>G, XM_011521298.3:c.1154A>G, XM_011521298.2:c.1154A>G, XM_011521298.1:c.1154A>G, XM_011521301.3:c.1049A>G, XM_011521301.2:c.1049A>G, XM_011521301.1:c.1049A>G, XM_011521300.3:c.872A>G, XM_011521300.2:c.872A>G, XM_011521300.1:c.872A>G, XM_011521302.3:c.545A>G, XM_011521302.2:c.545A>G, XM_011521302.1:c.545A>G, NM_001286441.2:c.1154A>G, NM_001286441.1:c.1154A>G, XM_017021970.2:c.872A>G, XM_017021970.1:c.872A>G, XM_017021971.2:c.872A>G, XM_017021971.1:c.872A>G, NM_001385036.1:c.1085A>G, XM_047432211.1:c.872A>G, XM_047432209.1:c.992A>G, XM_047432210.1:c.980A>G, NP_689809.2:p.Gln327Arg, XP_011519600.1:p.Gln385Arg, XP_011519603.1:p.Gln350Arg, XP_011519602.1:p.Gln291Arg, XP_011519604.1:p.Gln182Arg, NP_001273370.1:p.Gln385Arg, XP_016877459.1:p.Gln291Arg, XP_016877460.1:p.Gln291Arg, NP_001371965.1:p.Gln362Arg, XP_047288167.1:p.Gln291Arg, XP_047288165.1:p.Gln331Arg, XP_047288166.1:p.Gln327Arg

Select item 14818025856.

rs1481802585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:41184490 (GRCh38)
15:41476688 (GRCh37)
Canonical SPDI:: NC_000015.10:41184489:A:C
Gene:: EXD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.41184490A>C, NC_000015.9:g.41476688A>C, NM_152596.4:c.986T>G, NM_152596.3:c.986T>G, NM_152596.2:c.986T>G, XM_011521298.3:c.1160T>G, XM_011521298.2:c.1160T>G, XM_011521298.1:c.1160T>G, XM_011521301.3:c.1055T>G, XM_011521301.2:c.1055T>G, XM_011521301.1:c.1055T>G, XM_011521300.3:c.878T>G, XM_011521300.2:c.878T>G, XM_011521300.1:c.878T>G, XM_011521302.3:c.551T>G, XM_011521302.2:c.551T>G, XM_011521302.1:c.551T>G, NM_001286441.2:c.1160T>G, NM_001286441.1:c.1160T>G, XM_017021970.2:c.878T>G, XM_017021970.1:c.878T>G, XM_017021971.2:c.878T>G, XM_017021971.1:c.878T>G, NM_001385036.1:c.1091T>G, XM_047432211.1:c.878T>G, XM_047432209.1:c.998T>G, XM_047432210.1:c.986T>G, NP_689809.2:p.Leu329Arg, XP_011519600.1:p.Leu387Arg, XP_011519603.1:p.Leu352Arg, XP_011519602.1:p.Leu293Arg, XP_011519604.1:p.Leu184Arg, NP_001273370.1:p.Leu387Arg, XP_016877459.1:p.Leu293Arg, XP_016877460.1:p.Leu293Arg, NP_001371965.1:p.Leu364Arg, XP_047288167.1:p.Leu293Arg, XP_047288165.1:p.Leu333Arg, XP_047288166.1:p.Leu329Arg

Select item 14782797347.

rs1478279734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:41195815 (GRCh38)
15:41488013 (GRCh37)
Canonical SPDI:: NC_000015.10:41195814:T:C
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.41195815T>C, NC_000015.9:g.41488013T>C, NM_152596.4:c.506A>G, NM_152596.3:c.506A>G, NM_152596.2:c.506A>G, XM_011521298.3:c.680A>G, XM_011521298.2:c.680A>G, XM_011521298.1:c.680A>G, XM_011521301.3:c.575A>G, XM_011521301.2:c.575A>G, XM_011521301.1:c.575A>G, XM_011521300.3:c.398A>G, XM_011521300.2:c.398A>G, XM_011521300.1:c.398A>G, XM_011521302.3:c.71A>G, XM_011521302.2:c.71A>G, XM_011521302.1:c.71A>G, NM_001286441.2:c.680A>G, NM_001286441.1:c.680A>G, XM_017021970.2:c.398A>G, XM_017021970.1:c.398A>G, XM_017021971.2:c.398A>G, XM_017021971.1:c.398A>G, NM_001385036.1:c.611A>G, XM_047432211.1:c.398A>G, XM_047432209.1:c.518A>G, XM_047432210.1:c.506A>G, NP_689809.2:p.His169Arg, XP_011519600.1:p.His227Arg, XP_011519603.1:p.His192Arg, XP_011519602.1:p.His133Arg, XP_011519604.1:p.His24Arg, NP_001273370.1:p.His227Arg, XP_016877459.1:p.His133Arg, XP_016877460.1:p.His133Arg, NP_001371965.1:p.His204Arg, XP_047288167.1:p.His133Arg, XP_047288165.1:p.His173Arg, XP_047288166.1:p.His169Arg

Select item 14761885548.

rs1476188554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:41184028 (GRCh38)
15:41476226 (GRCh37)
Canonical SPDI:: NC_000015.10:41184027:A:G
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41184028A>G, NC_000015.9:g.41476226A>G, NM_152596.4:c.1448T>C, NM_152596.3:c.1448T>C, NM_152596.2:c.1448T>C, XM_011521298.3:c.1622T>C, XM_011521298.2:c.1622T>C, XM_011521298.1:c.1622T>C, XM_011521301.3:c.1517T>C, XM_011521301.2:c.1517T>C, XM_011521301.1:c.1517T>C, XM_011521300.3:c.1340T>C, XM_011521300.2:c.1340T>C, XM_011521300.1:c.1340T>C, XM_011521302.3:c.1013T>C, XM_011521302.2:c.1013T>C, XM_011521302.1:c.1013T>C, NM_001286441.2:c.1622T>C, NM_001286441.1:c.1622T>C, XM_017021970.2:c.1340T>C, XM_017021970.1:c.1340T>C, XM_017021971.2:c.1340T>C, XM_017021971.1:c.1340T>C, NM_001385036.1:c.1553T>C, XM_047432211.1:c.1340T>C, XM_047432209.1:c.1460T>C, XM_047432210.1:c.1448T>C, NP_689809.2:p.Phe483Ser, XP_011519600.1:p.Phe541Ser, XP_011519603.1:p.Phe506Ser, XP_011519602.1:p.Phe447Ser, XP_011519604.1:p.Phe338Ser, NP_001273370.1:p.Phe541Ser, XP_016877459.1:p.Phe447Ser, XP_016877460.1:p.Phe447Ser, NP_001371965.1:p.Phe518Ser, XP_047288167.1:p.Phe447Ser, XP_047288165.1:p.Phe487Ser, XP_047288166.1:p.Phe483Ser

Select item 14738285549.

rs1473828554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41190071 (GRCh38)
15:41482269 (GRCh37)
Canonical SPDI:: NC_000015.10:41190070:C:T
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41190071C>T, NC_000015.9:g.41482269C>T, NM_152596.4:c.748G>A, NM_152596.3:c.748G>A, NM_152596.2:c.748G>A, XM_011521298.3:c.922G>A, XM_011521298.2:c.922G>A, XM_011521298.1:c.922G>A, XM_011521301.3:c.817G>A, XM_011521301.2:c.817G>A, XM_011521301.1:c.817G>A, XM_011521300.3:c.640G>A, XM_011521300.2:c.640G>A, XM_011521300.1:c.640G>A, XM_011521302.3:c.313G>A, XM_011521302.2:c.313G>A, XM_011521302.1:c.313G>A, NM_001286441.2:c.922G>A, NM_001286441.1:c.922G>A, XM_017021970.2:c.640G>A, XM_017021970.1:c.640G>A, XM_017021971.2:c.640G>A, XM_017021971.1:c.640G>A, NM_001385036.1:c.853G>A, XM_047432211.1:c.640G>A, XM_047432209.1:c.760G>A, XM_047432210.1:c.748G>A, NP_689809.2:p.Ala250Thr, XP_011519600.1:p.Ala308Thr, XP_011519603.1:p.Ala273Thr, XP_011519602.1:p.Ala214Thr, XP_011519604.1:p.Ala105Thr, NP_001273370.1:p.Ala308Thr, XP_016877459.1:p.Ala214Thr, XP_016877460.1:p.Ala214Thr, NP_001371965.1:p.Ala285Thr, XP_047288167.1:p.Ala214Thr, XP_047288165.1:p.Ala254Thr, XP_047288166.1:p.Ala250Thr

Select item 147188153410.

rs1471881534 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCA>- [Show Flanks]
Chromosome:: 15:41184119 (GRCh38)
15:41476317 (GRCh37)
Canonical SPDI:: NC_000015.10:41184115:CCACCA:CCA
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CCACCA=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.41184116CCA[1], NC_000015.9:g.41476314CCA[1], NM_152596.4:c.1355TGG[1], NM_152596.3:c.1355TGG[1], NM_152596.2:c.1355TGG[1], XM_011521298.3:c.1529TGG[1], XM_011521298.2:c.1529TGG[1], XM_011521298.1:c.1529TGG[1], XM_011521301.3:c.1424TGG[1], XM_011521301.2:c.1424TGG[1], XM_011521301.1:c.1424TGG[1], XM_011521300.3:c.1247TGG[1], XM_011521300.2:c.1247TGG[1], XM_011521300.1:c.1247TGG[1], XM_011521302.3:c.920TGG[1], XM_011521302.2:c.920TGG[1], XM_011521302.1:c.920TGG[1], NM_001286441.2:c.1529TGG[1], NM_001286441.1:c.1529TGG[1], XM_017021970.2:c.1247TGG[1], XM_017021970.1:c.1247TGG[1], XM_017021971.2:c.1247TGG[1], XM_017021971.1:c.1247TGG[1], NM_001385036.1:c.1460TGG[1], XM_047432211.1:c.1247TGG[1], XM_047432209.1:c.1367TGG[1], XM_047432210.1:c.1355TGG[1], NP_689809.2:p.Val453del, XP_011519600.1:p.Val511del, XP_011519603.1:p.Val476del, XP_011519602.1:p.Val417del, XP_011519604.1:p.Val308del, NP_001273370.1:p.Val511del, XP_016877459.1:p.Val417del, XP_016877460.1:p.Val417del, NP_001371965.1:p.Val488del, XP_047288167.1:p.Val417del, XP_047288165.1:p.Val457del, XP_047288166.1:p.Val453del

Select item 147039586911.

rs1470395869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:41191502 (GRCh38)
15:41483700 (GRCh37)
Canonical SPDI:: NC_000015.10:41191501:T:G
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.41191502T>G, NC_000015.9:g.41483700T>G, NM_152596.4:c.630A>C, NM_152596.3:c.630A>C, NM_152596.2:c.630A>C, XM_011521298.3:c.804A>C, XM_011521298.2:c.804A>C, XM_011521298.1:c.804A>C, XM_011521301.3:c.699A>C, XM_011521301.2:c.699A>C, XM_011521301.1:c.699A>C, XM_011521300.3:c.522A>C, XM_011521300.2:c.522A>C, XM_011521300.1:c.522A>C, XM_011521302.3:c.195A>C, XM_011521302.2:c.195A>C, XM_011521302.1:c.195A>C, NM_001286441.2:c.804A>C, NM_001286441.1:c.804A>C, XM_017021970.2:c.522A>C, XM_017021970.1:c.522A>C, XM_017021971.2:c.522A>C, XM_017021971.1:c.522A>C, NM_001385036.1:c.735A>C, XM_047432211.1:c.522A>C, XM_047432209.1:c.642A>C, XM_047432210.1:c.630A>C, NP_689809.2:p.Lys210Asn, XP_011519600.1:p.Lys268Asn, XP_011519603.1:p.Lys233Asn, XP_011519602.1:p.Lys174Asn, XP_011519604.1:p.Lys65Asn, NP_001273370.1:p.Lys268Asn, XP_016877459.1:p.Lys174Asn, XP_016877460.1:p.Lys174Asn, NP_001371965.1:p.Lys245Asn, XP_047288167.1:p.Lys174Asn, XP_047288165.1:p.Lys214Asn, XP_047288166.1:p.Lys210Asn

Select item 146928084612.

rs1469280846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:41190128 (GRCh38)
15:41482326 (GRCh37)
Canonical SPDI:: NC_000015.10:41190127:C:A
Gene:: EXD1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41190128C>A, NC_000015.9:g.41482326C>A, NM_152596.4:c.691G>T, NM_152596.3:c.691G>T, NM_152596.2:c.691G>T, XM_011521298.3:c.865G>T, XM_011521298.2:c.865G>T, XM_011521298.1:c.865G>T, XM_011521301.3:c.760G>T, XM_011521301.2:c.760G>T, XM_011521301.1:c.760G>T, XM_011521300.3:c.583G>T, XM_011521300.2:c.583G>T, XM_011521300.1:c.583G>T, XM_011521302.3:c.256G>T, XM_011521302.2:c.256G>T, XM_011521302.1:c.256G>T, NM_001286441.2:c.865G>T, NM_001286441.1:c.865G>T, XM_017021970.2:c.583G>T, XM_017021970.1:c.583G>T, XM_017021971.2:c.583G>T, XM_017021971.1:c.583G>T, NM_001385036.1:c.796G>T, XM_047432211.1:c.583G>T, XM_047432209.1:c.703G>T, XM_047432210.1:c.691G>T, NP_689809.2:p.Glu231Ter, XP_011519600.1:p.Glu289Ter, XP_011519603.1:p.Glu254Ter, XP_011519602.1:p.Glu195Ter, XP_011519604.1:p.Glu86Ter, NP_001273370.1:p.Glu289Ter, XP_016877459.1:p.Glu195Ter, XP_016877460.1:p.Glu195Ter, NP_001371965.1:p.Glu266Ter, XP_047288167.1:p.Glu195Ter, XP_047288165.1:p.Glu235Ter, XP_047288166.1:p.Glu231Ter

Select item 146866770913.

rs1468667709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:41184019 (GRCh38)
15:41476217 (GRCh37)
Canonical SPDI:: NC_000015.10:41184018:A:G
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.41184019A>G, NC_000015.9:g.41476217A>G, NM_152596.4:c.1457T>C, NM_152596.3:c.1457T>C, NM_152596.2:c.1457T>C, XM_011521298.3:c.1631T>C, XM_011521298.2:c.1631T>C, XM_011521298.1:c.1631T>C, XM_011521301.3:c.1526T>C, XM_011521301.2:c.1526T>C, XM_011521301.1:c.1526T>C, XM_011521300.3:c.1349T>C, XM_011521300.2:c.1349T>C, XM_011521300.1:c.1349T>C, XM_011521302.3:c.1022T>C, XM_011521302.2:c.1022T>C, XM_011521302.1:c.1022T>C, NM_001286441.2:c.1631T>C, NM_001286441.1:c.1631T>C, XM_017021970.2:c.1349T>C, XM_017021970.1:c.1349T>C, XM_017021971.2:c.1349T>C, XM_017021971.1:c.1349T>C, NM_001385036.1:c.1562T>C, XM_047432211.1:c.1349T>C, XM_047432209.1:c.1469T>C, XM_047432210.1:c.1457T>C, NP_689809.2:p.Ile486Thr, XP_011519600.1:p.Ile544Thr, XP_011519603.1:p.Ile509Thr, XP_011519602.1:p.Ile450Thr, XP_011519604.1:p.Ile341Thr, NP_001273370.1:p.Ile544Thr, XP_016877459.1:p.Ile450Thr, XP_016877460.1:p.Ile450Thr, NP_001371965.1:p.Ile521Thr, XP_047288167.1:p.Ile450Thr, XP_047288165.1:p.Ile490Thr, XP_047288166.1:p.Ile486Thr

Select item 146739746214.

rs1467397462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:41190090 (GRCh38)
15:41482288 (GRCh37)
Canonical SPDI:: NC_000015.10:41190089:G:A,NC_000015.10:41190089:G:C
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41190090G>A, NC_000015.10:g.41190090G>C, NC_000015.9:g.41482288G>A, NC_000015.9:g.41482288G>C, NM_152596.4:c.729C>T, NM_152596.4:c.729C>G, NM_152596.3:c.729C>T, NM_152596.3:c.729C>G, NM_152596.2:c.729C>T, NM_152596.2:c.729C>G, XM_011521298.3:c.903C>T, XM_011521298.3:c.903C>G, XM_011521298.2:c.903C>T, XM_011521298.2:c.903C>G, XM_011521298.1:c.903C>T, XM_011521298.1:c.903C>G, XM_011521301.3:c.798C>T, XM_011521301.3:c.798C>G, XM_011521301.2:c.798C>T, XM_011521301.2:c.798C>G, XM_011521301.1:c.798C>T, XM_011521301.1:c.798C>G, XM_011521300.3:c.621C>T, XM_011521300.3:c.621C>G, XM_011521300.2:c.621C>T, XM_011521300.2:c.621C>G, XM_011521300.1:c.621C>T, XM_011521300.1:c.621C>G, XM_011521302.3:c.294C>T, XM_011521302.3:c.294C>G, XM_011521302.2:c.294C>T, XM_011521302.2:c.294C>G, XM_011521302.1:c.294C>T, XM_011521302.1:c.294C>G, NM_001286441.2:c.903C>T, NM_001286441.2:c.903C>G, NM_001286441.1:c.903C>T, NM_001286441.1:c.903C>G, XM_017021970.2:c.621C>T, XM_017021970.2:c.621C>G, XM_017021970.1:c.621C>T, XM_017021970.1:c.621C>G, XM_017021971.2:c.621C>T, XM_017021971.2:c.621C>G, XM_017021971.1:c.621C>T, XM_017021971.1:c.621C>G, NM_001385036.1:c.834C>T, NM_001385036.1:c.834C>G, XM_047432211.1:c.621C>T, XM_047432211.1:c.621C>G, XM_047432209.1:c.741C>T, XM_047432209.1:c.741C>G, XM_047432210.1:c.729C>T, XM_047432210.1:c.729C>G

Select item 146553783615.

rs1465537836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:41184180 (GRCh38)
15:41476378 (GRCh37)
Canonical SPDI:: NC_000015.10:41184179:T:C
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41184180T>C, NC_000015.9:g.41476378T>C, NM_152596.4:c.1296A>G, NM_152596.3:c.1296A>G, NM_152596.2:c.1296A>G, XM_011521298.3:c.1470A>G, XM_011521298.2:c.1470A>G, XM_011521298.1:c.1470A>G, XM_011521301.3:c.1365A>G, XM_011521301.2:c.1365A>G, XM_011521301.1:c.1365A>G, XM_011521300.3:c.1188A>G, XM_011521300.2:c.1188A>G, XM_011521300.1:c.1188A>G, XM_011521302.3:c.861A>G, XM_011521302.2:c.861A>G, XM_011521302.1:c.861A>G, NM_001286441.2:c.1470A>G, NM_001286441.1:c.1470A>G, XM_017021970.2:c.1188A>G, XM_017021970.1:c.1188A>G, XM_017021971.2:c.1188A>G, XM_017021971.1:c.1188A>G, NM_001385036.1:c.1401A>G, XM_047432211.1:c.1188A>G, XM_047432209.1:c.1308A>G, XM_047432210.1:c.1296A>G

Select item 145958899216.

rs1459588992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:41184503 (GRCh38)
15:41476701 (GRCh37)
Canonical SPDI:: NC_000015.10:41184502:T:C
Gene:: EXD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41184503T>C, NC_000015.9:g.41476701T>C, NM_152596.4:c.973A>G, NM_152596.3:c.973A>G, NM_152596.2:c.973A>G, XM_011521298.3:c.1147A>G, XM_011521298.2:c.1147A>G, XM_011521298.1:c.1147A>G, XM_011521301.3:c.1042A>G, XM_011521301.2:c.1042A>G, XM_011521301.1:c.1042A>G, XM_011521300.3:c.865A>G, XM_011521300.2:c.865A>G, XM_011521300.1:c.865A>G, XM_011521302.3:c.538A>G, XM_011521302.2:c.538A>G, XM_011521302.1:c.538A>G, NM_001286441.2:c.1147A>G, NM_001286441.1:c.1147A>G, XM_017021970.2:c.865A>G, XM_017021970.1:c.865A>G, XM_017021971.2:c.865A>G, XM_017021971.1:c.865A>G, NM_001385036.1:c.1078A>G, XM_047432211.1:c.865A>G, XM_047432209.1:c.985A>G, XM_047432210.1:c.973A>G, NP_689809.2:p.Asn325Asp, XP_011519600.1:p.Asn383Asp, XP_011519603.1:p.Asn348Asp, XP_011519602.1:p.Asn289Asp, XP_011519604.1:p.Asn180Asp, NP_001273370.1:p.Asn383Asp, XP_016877459.1:p.Asn289Asp, XP_016877460.1:p.Asn289Asp, NP_001371965.1:p.Asn360Asp, XP_047288167.1:p.Asn289Asp, XP_047288165.1:p.Asn329Asp, XP_047288166.1:p.Asn325Asp

Select item 145901468917.

rs1459014689 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:41216709 (GRCh38)
15:41508907 (GRCh37)
Canonical SPDI:: NC_000015.10:41216708:GG:G
Gene:: EXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.00011/2 (TOMMO)
HGVS:: NC_000015.10:g.41216710del, NC_000015.9:g.41508908del, NM_152596.4:c.173del, NM_152596.3:c.173del, NM_152596.2:c.173del, XM_011521298.3:c.347del, XM_011521298.2:c.347del, XM_011521298.1:c.347del, XM_011521301.3:c.242del, XM_011521301.2:c.242del, XM_011521301.1:c.242del, XM_011521300.3:c.65del, XM_011521300.2:c.65del, XM_011521300.1:c.65del, NM_001286441.2:c.347del, NM_001286441.1:c.347del, XM_017021970.2:c.65del, XM_017021970.1:c.65del, XM_017021971.2:c.65del, XM_017021971.1:c.65del, NM_001385036.1:c.278del, XM_047432211.1:c.65del, XM_047432209.1:c.185del, XM_047432210.1:c.173del, NP_689809.2:p.Pro58fs, XP_011519600.1:p.Pro116fs, XP_011519603.1:p.Pro81fs, XP_011519602.1:p.Pro22fs, NP_001273370.1:p.Pro116fs, XP_016877459.1:p.Pro22fs, XP_016877460.1:p.Pro22fs, NP_001371965.1:p.Pro93fs, XP_047288167.1:p.Pro22fs, XP_047288165.1:p.Pro62fs, XP_047288166.1:p.Pro58fs

Select item 145834552218.

rs1458345522 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 15:41184446 (GRCh38)
15:41476644 (GRCh37)
Canonical SPDI:: NC_000015.10:41184445:T:
Gene:: EXD1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41184446del, NC_000015.9:g.41476644del, NM_152596.4:c.1030del, NM_152596.3:c.1030del, NM_152596.2:c.1030del, XM_011521298.3:c.1204del, XM_011521298.2:c.1204del, XM_011521298.1:c.1204del, XM_011521301.3:c.1099del, XM_011521301.2:c.1099del, XM_011521301.1:c.1099del, XM_011521300.3:c.922del, XM_011521300.2:c.922del, XM_011521300.1:c.922del, XM_011521302.3:c.595del, XM_011521302.2:c.595del, XM_011521302.1:c.595del, NM_001286441.2:c.1204del, NM_001286441.1:c.1204del, XM_017021970.2:c.922del, XM_017021970.1:c.922del, XM_017021971.2:c.922del, XM_017021971.1:c.922del, NM_001385036.1:c.1135del, XM_047432211.1:c.922del, XM_047432209.1:c.1042del, XM_047432210.1:c.1030del, NP_689809.2:p.Thr344fs, XP_011519600.1:p.Thr402fs, XP_011519603.1:p.Thr367fs, XP_011519602.1:p.Thr308fs, XP_011519604.1:p.Thr199fs, NP_001273370.1:p.Thr402fs, XP_016877459.1:p.Thr308fs, XP_016877460.1:p.Thr308fs, NP_001371965.1:p.Thr379fs, XP_047288167.1:p.Thr308fs, XP_047288165.1:p.Thr348fs, XP_047288166.1:p.Thr344fs

Select item 145457982219.

rs1454579822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:41217097 (GRCh38)
15:41509295 (GRCh37)
Canonical SPDI:: NC_000015.10:41217096:C:A,NC_000015.10:41217096:C:G,NC_000015.10:41217096:C:T
Gene:: EXD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.41217097C>A, NC_000015.10:g.41217097C>G, NC_000015.10:g.41217097C>T, NC_000015.9:g.41509295C>A, NC_000015.9:g.41509295C>G, NC_000015.9:g.41509295C>T, NM_152596.4:c.86G>T, NM_152596.4:c.86G>C, NM_152596.4:c.86G>A, NM_152596.3:c.86G>T, NM_152596.3:c.86G>C, NM_152596.3:c.86G>A, NM_152596.2:c.86G>T, NM_152596.2:c.86G>C, NM_152596.2:c.86G>A, XM_011521298.3:c.260G>T, XM_011521298.3:c.260G>C, XM_011521298.3:c.260G>A, XM_011521298.2:c.260G>T, XM_011521298.2:c.260G>C, XM_011521298.2:c.260G>A, XM_011521298.1:c.260G>T, XM_011521298.1:c.260G>C, XM_011521298.1:c.260G>A, XM_011521301.3:c.155G>T, XM_011521301.3:c.155G>C, XM_011521301.3:c.155G>A, XM_011521301.2:c.155G>T, XM_011521301.2:c.155G>C, XM_011521301.2:c.155G>A, XM_011521301.1:c.155G>T, XM_011521301.1:c.155G>C, XM_011521301.1:c.155G>A, XM_011521300.3:c.-28G>T, XM_011521300.3:c.-28G>C, XM_011521300.3:c.-28G>A, XM_011521300.2:c.-28G>T, XM_011521300.2:c.-28G>C, XM_011521300.2:c.-28G>A, XM_011521300.1:c.-28G>T, XM_011521300.1:c.-28G>C, XM_011521300.1:c.-28G>A, NM_001286441.2:c.260G>T, NM_001286441.2:c.260G>C, NM_001286441.2:c.260G>A, NM_001286441.1:c.260G>T, NM_001286441.1:c.260G>C, NM_001286441.1:c.260G>A, XM_017021970.2:c.-28G>T, XM_017021970.2:c.-28G>C, XM_017021970.2:c.-28G>A, XM_017021970.1:c.-28G>T, XM_017021970.1:c.-28G>C, XM_017021970.1:c.-28G>A, XM_017021971.2:c.-28G>T, XM_017021971.2:c.-28G>C, XM_017021971.2:c.-28G>A, XM_017021971.1:c.-28G>T, XM_017021971.1:c.-28G>C, XM_017021971.1:c.-28G>A, NM_001385036.1:c.191G>T, NM_001385036.1:c.191G>C, NM_001385036.1:c.191G>A, XM_047432211.1:c.-28G>T, XM_047432211.1:c.-28G>C, XM_047432211.1:c.-28G>A, XM_047432209.1:c.98G>T, XM_047432209.1:c.98G>C, XM_047432209.1:c.98G>A, XM_047432210.1:c.86G>T, XM_047432210.1:c.86G>C, XM_047432210.1:c.86G>A, NP_689809.2:p.Ser29Ile, NP_689809.2:p.Ser29Thr, NP_689809.2:p.Ser29Asn, XP_011519600.1:p.Ser87Ile, XP_011519600.1:p.Ser87Thr, XP_011519600.1:p.Ser87Asn, XP_011519603.1:p.Ser52Ile, XP_011519603.1:p.Ser52Thr, XP_011519603.1:p.Ser52Asn, NP_001273370.1:p.Ser87Ile, NP_001273370.1:p.Ser87Thr, NP_001273370.1:p.Ser87Asn, NP_001371965.1:p.Ser64Ile, NP_001371965.1:p.Ser64Thr, NP_001371965.1:p.Ser64Asn, XP_047288165.1:p.Ser33Ile, XP_047288165.1:p.Ser33Thr, XP_047288165.1:p.Ser33Asn, XP_047288166.1:p.Ser29Ile, XP_047288166.1:p.Ser29Thr, XP_047288166.1:p.Ser29Asn

Select item 145313902120.

rs1453139021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:41195974 (GRCh38)
15:41488172 (GRCh37)
Canonical SPDI:: NC_000015.10:41195973:T:C
Gene:: EXD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.41195974T>C, NC_000015.9:g.41488172T>C, NM_152596.4:c.424A>G, NM_152596.3:c.424A>G, NM_152596.2:c.424A>G, XM_011521298.3:c.598A>G, XM_011521298.2:c.598A>G, XM_011521298.1:c.598A>G, XM_011521301.3:c.493A>G, XM_011521301.2:c.493A>G, XM_011521301.1:c.493A>G, XM_011521300.3:c.316A>G, XM_011521300.2:c.316A>G, XM_011521300.1:c.316A>G, XM_011521302.3:c.-12A>G, XM_011521302.2:c.-12A>G, XM_011521302.1:c.-12A>G, NM_001286441.2:c.598A>G, NM_001286441.1:c.598A>G, XM_017021970.2:c.316A>G, XM_017021970.1:c.316A>G, XM_017021971.2:c.316A>G, XM_017021971.1:c.316A>G, NM_001385036.1:c.529A>G, XM_047432211.1:c.316A>G, XM_047432209.1:c.436A>G, XM_047432210.1:c.424A>G, NP_689809.2:p.Asn142Asp, XP_011519600.1:p.Asn200Asp, XP_011519603.1:p.Asn165Asp, XP_011519602.1:p.Asn106Asp, NP_001273370.1:p.Asn200Asp, XP_016877459.1:p.Asn106Asp, XP_016877460.1:p.Asn106Asp, NP_001371965.1:p.Asn177Asp, XP_047288167.1:p.Asn106Asp, XP_047288165.1:p.Asn146Asp, XP_047288166.1:p.Asn142Asp

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