Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80108679_80116948delCA913184754GAAc.1195-18_2190-20del
c.1195-18_*328-20del
17g.80108678_80116951delCA658795244GAAc.1195-19_2190-17del
c.1195-19_*328-17del
ClinVar
17g.80110978_80110987delCA2640288896GAAc.1589_1598del (p.Glu530AlafsTer?)
gnomAD v4
17g.80110982C>ACA401367275GAAc.1593C>A (p.Asp531Glu)
17g.80110982C=CA2277814205GAAc.1593C= (p.Asp531=)
17g.80110982C>GCA401367274GAAc.1593C>G (p.Asp531Glu)
dbSNP
17g.80110982C>TCA8815387GAAc.1593C>T (p.Asp531=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110982_80110983delinsCGCA2277814206GAAc.1593_1594delinsCG (p.Asp531=)
17g.80110983G>ACA8815388GAAc.1594G>A (p.Gly532Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110983G>CCA401367276GAAc.1594G>C (p.Gly532Arg)
ClinVar
17g.80110983G=CA2277814207GAAc.1594G= (p.Gly532=)
17g.80110983G>TCA294895023GAAc.1594G>T (p.Gly532Cys)
ClinVar dbSNP gnomAD v4
17g.80110984delCA294895015GAAc.1595del (p.Gly532AlafsTer?)
dbSNP
17g.80110984G>ACA401367277GAAc.1595G>A (p.Gly532Asp)
17g.80110984G>CCA401367278GAAc.1595G>C (p.Gly532Ala)
17g.80110984G>TCA401367279GAAc.1595G>T (p.Gly532Val)
17g.80110985C>ACA502178707GAAc.1596C>A (p.Gly532=)
17g.80110985C>GCA502178708GAAc.1596C>G (p.Gly532=)
17g.80110985C>TCA502178709GAAc.1596C>T (p.Gly532=)
17g.80110986T>ACA401367280GAAc.1597T>A (p.Cys533Ser)
17g.80110986T>CCA401367281GAAc.1597T>C (p.Cys533Arg)
dbSNP gnomAD v3 gnomAD v4
17g.80110986T>GCA401367282GAAc.1597T>G (p.Cys533Gly)
17g.80110986T=CA2277814208GAAc.1597T= (p.Cys533=)
17g.80110987G>ACA401367283GAAc.1598G>A (p.Cys533Tyr)
17g.80110987G>CCA401367284GAAc.1598G>C (p.Cys533Ser)
17g.80110987G>TCA401367285GAAc.1598G>T (p.Cys533Phe)
gnomAD v4
17g.80110988C>ACA401367286GAAc.1599C>A (p.Cys533Ter)
17g.80110988C=CA2277814209GAAc.1599C= (p.Cys533=)
17g.80110988C>GCA401367287GAAc.1599C>G (p.Cys533Trp)
17g.80110988C>TCA8815389GAAc.1599C>T (p.Cys533=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110989C>ACA401367288GAAc.1600C>A (p.Pro534Thr)
17g.80110989C>GCA401367290GAAc.1600C>G (p.Pro534Ala)
17g.80110989C>TCA401367289GAAc.1600C>T (p.Pro534Ser)
17g.80110990C>ACA401367291GAAc.1601C>A (p.Pro534His)
17g.80110990C=CA2277814210GAAc.1601C= (p.Pro534=)
17g.80110990C>GCA401367292GAAc.1601C>G (p.Pro534Arg)
ClinVar dbSNP
17g.80110990C>TCA294895032GAAc.1601C>T (p.Pro534Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80110991C>ACA502178710GAAc.1602C>A (p.Pro534=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80110991C=CA2277814211GAAc.1602C= (p.Pro534=)
17g.80110991C>GCA502178711GAAc.1602C>G (p.Pro534=)
17g.80110991C>TCA502178712GAAc.1602C>T (p.Pro534=)
17g.80110991_80110994delinsAGGCA913184733GAAc.1602_1605delinsAGG (p.Asn535GlyfsTer?)
ClinVar dbSNP
17g.80110992A>CCA401367293GAAc.1603A>C (p.Asn535His)
17g.80110992A>GCA401367294GAAc.1603A>G (p.Asn535Asp)
17g.80110992A>TCA401367295GAAc.1603A>T (p.Asn535Tyr)
17g.80110993A=CA2277814212GAAc.1604A= (p.Asn535=)
17g.80110993A>CCA401367296GAAc.1604A>C (p.Asn535Thr)
17g.80110993A>GCA401367297GAAc.1604A>G (p.Asn535Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80110993A>TCA401367298GAAc.1604A>T (p.Asn535Ile)
17g.80110994C>ACA401367299GAAc.1605C>A (p.Asn535Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80110994C=CA2277814213GAAc.1605C= (p.Asn535=)
17g.80110994C>GCA401367300GAAc.1605C>G (p.Asn535Lys)
17g.80110994C>TCA502178713GAAc.1605C>T (p.Asn535=)
17g.80110995A=CA2277814214GAAc.1606A= (p.Asn536=)
17g.80110995A>CCA401367301GAAc.1606A>C (p.Asn536His)
17g.80110995A>GCA401367302GAAc.1606A>G (p.Asn536Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80110995A>TCA401367303GAAc.1606A>T (p.Asn536Tyr)
17g.80110995_80110996insCAAAACCAAACACACCCAACACCA2810585819GAAc.1606_1607insCAAAACCAAACACACCCAACAC (p.Asn536ThrfsTer9)
17g.80110996A=CA2277814215GAAc.1607A= (p.Asn536=)
17g.80110996A>CCA401367305GAAc.1607A>C (p.Asn536Thr)
17g.80110996A>GCA8815390GAAc.1607A>G (p.Asn536Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110996A>TCA401367304GAAc.1607A>T (p.Asn536Ile)
17g.80110997T>ACA401367306GAAc.1608T>A (p.Asn536Lys)
17g.80110997T>CCA502178714GAAc.1608T>C (p.Asn536=)
gnomAD v4
17g.80110997T>GCA401367307GAAc.1608T>G (p.Asn536Lys)
ClinVar dbSNP
17g.80110997T=CA2277814216GAAc.1608T= (p.Asn536=)
17g.80110998G>ACA401367308GAAc.1609G>A (p.Glu537Lys)
17g.80110998G>CCA401367309GAAc.1609G>C (p.Glu537Gln)
17g.80110998G>TCA401367310GAAc.1609G>T (p.Glu537Ter)
17g.80110998_80110999delinsGACA2277814217GAAc.1609_1610delinsGA (p.Glu537=)
17g.80110999delCA8815391GAAc.1610del (p.Glu537GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80110999A>CCA401367311GAAc.1610A>C (p.Glu537Ala)
17g.80110999A>GCA401367312GAAc.1610A>G (p.Glu537Gly)
17g.80110999A>TCA401367313GAAc.1610A>T (p.Glu537Val)
17g.80111000G>ACA502178715GAAc.1611G>A (p.Glu537=)
17g.80111000G>CCA401367314GAAc.1611G>C (p.Glu537Asp)
17g.80111000G=CA2277814218GAAc.1611G= (p.Glu537=)
17g.80111000G>TCA401367315GAAc.1611G>T (p.Glu537Asp)
ClinVar dbSNP gnomAD v4
17g.80111001C>ACA401367316GAAc.1612C>A (p.Leu538Met)
17g.80111001C=CA2277814219GAAc.1612C= (p.Leu538=)
17g.80111001C>GCA401367317GAAc.1612C>G (p.Leu538Val)
17g.80111001C>TCA502178716GAAc.1612C>T (p.Leu538=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80111002T>ACA401367318GAAc.1613T>A (p.Leu538Gln)
c.1T>A
17g.80111002T>CCA401367319GAAc.1613T>C (p.Leu538Pro)
c.1T>C
17g.80111002T>GCA401367320GAAc.1613T>G (p.Leu538Arg)
c.1T>G
17g.80111003G>ACA502178719GAAc.1614G>A (p.Leu538=)
c.2G>A
gnomAD v4
17g.80111003G>CCA502178717GAAc.1614G>C (p.Leu538=)
c.2G>C
17g.80111003G>TCA502178718GAAc.1614G>T (p.Leu538=)
c.2G>T
17g.80111004G>ACA401367321GAAc.1615G>A (p.Glu539Lys)
c.3G>A
17g.80111004G>CCA401367322GAAc.1615G>C (p.Glu539Gln)
c.3G>C
17g.80111004G=CA2277814220GAAc.1615G= (p.Glu539=)
c.3G=
17g.80111004G>TCA401367323GAAc.1615G>T (p.Glu539Ter)
c.3G>T
dbSNP gnomAD v3 gnomAD v4
17g.80111005A>CCA401367324GAAc.1616A>C (p.Glu539Ala)
c.4A>C
17g.80111005A>GCA401367325GAAc.1616A>G (p.Glu539Gly)
c.4A>G
ClinVar
17g.80111005A>TCA401367326GAAc.1616A>T (p.Glu539Val)
c.4A>T
gnomAD v4
17g.80111006G>ACA502178720GAAc.1617G>A (p.Glu539=)
c.5G>A
17g.80111006G>CCA401367327GAAc.1617G>C (p.Glu539Asp)
c.5G>C
17g.80111006G>TCA401367328GAAc.1617G>T (p.Glu539Asp)
c.5G>T
17g.80111007A>CCA401367331GAAc.1618A>C (p.Asn540His)
c.6A>C
17g.80111007A>GCA401367330GAAc.1618A>G (p.Asn540Asp)
c.6A>G
gnomAD v4
17g.80111007A>TCA401367329GAAc.1618A>T (p.Asn540Tyr)
c.6A>T
17g.80111008A=CA2277814221GAAc.1619A= (p.Asn540=)
c.7A=
17g.80111008A>CCA401367332GAAc.1619A>C (p.Asn540Thr)
c.7A>C
17g.80111008A>GCA401367333GAAc.1619A>G (p.Asn540Ser)
c.7A>G
ClinVar dbSNP gnomAD v4
17g.80111008A>TCA401367334GAAc.1619A>T (p.Asn540Ile)
c.7A>T
17g.80111009C>ACA401367335GAAc.1620C>A (p.Asn540Lys)
c.8C>A
gnomAD v4
17g.80111009C=CA2277814222GAAc.1620C= (p.Asn540=)
c.8C=
17g.80111009C>GCA401367336GAAc.1620C>G (p.Asn540Lys)
c.8C>G
gnomAD v4
17g.80111009C>TCA8815392GAAc.1620C>T (p.Asn540=)
c.8C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111010C>ACA401367337GAAc.1621C>A (p.Pro541Thr)
c.9C>A
17g.80111010C>GCA401367338GAAc.1621C>G (p.Pro541Ala)
c.9C>G
17g.80111010C>TCA401367339GAAc.1621C>T (p.Pro541Ser)
c.9C>T
17g.80111011C>ACA401367340GAAc.1622C>A (p.Pro541Gln)
c.10C>A
gnomAD v4
17g.80111011C>GCA401367341GAAc.1622C>G (p.Pro541Arg)
c.10C>G
17g.80111011C>TCA401367342GAAc.1622C>T (p.Pro541Leu)
c.10C>T
17g.80111012A=CA2277814223GAAc.1623A= (p.Pro541=)
c.11A=
17g.80111012A>CCA502178721GAAc.1623A>C (p.Pro541=)
c.11A>C
dbSNP gnomAD v2 gnomAD v4
17g.80111012A>GCA502178722GAAc.1623A>G (p.Pro541=)
c.11A>G
17g.80111012A>TCA502178723GAAc.1623A>T (p.Pro541=)
c.11A>T
17g.80111012_80111013delinsACCA2277814224GAAc.1623_1624delinsAC (p.Pro541=)
c.11_12delinsAC
17g.80111013C>ACA401367345GAAc.1624C>A (p.Pro542Thr)
c.12C>A
dbSNP gnomAD v2 gnomAD v4
17g.80111013C=CA2277814226GAAc.1624C= (p.Pro542=)
c.12C=
17g.80111013C>GCA401367347GAAc.1624C>G (p.Pro542Ala)
c.12C>G
17g.80111013C>TCA8815393GAAc.1624C>T (p.Pro542Ser)
c.12C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111015delCA2277814225GAAc.1626del (p.Tyr543ThrfsTer?)
c.14del
dbSNP gnomAD v4
17g.80111014C>ACA401367349GAAc.1625C>A (p.Pro542His)
c.13C>A
17g.80111014C=CA2277814227GAAc.1625C= (p.Pro542=)
c.13C=
17g.80111014C>GCA401367351GAAc.1625C>G (p.Pro542Arg)
c.13C>G
17g.80111014C>TCA401367352GAAc.1625C>T (p.Pro542Leu)
c.13C>T
ClinVar dbSNP gnomAD v4
17g.80111015C>ACA502178724GAAc.1626C>A (p.Pro542=)
c.14C>A
17g.80111015C=CA2277814228GAAc.1626C= (p.Pro542=)
c.14C=
17g.80111015C>GCA294895065GAAc.1626C>G (p.Pro542=)
c.14C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80111015C>TCA502178725GAAc.1626C>T (p.Pro542=)
c.14C>T
dbSNP
17g.80111016T>ACA401367354GAAc.1627T>A (p.Tyr543Asn)
c.15T>A
17g.80111016T>CCA401367355GAAc.1627T>C (p.Tyr543His)
c.15T>C
17g.80111016T>GCA401367357GAAc.1627T>G (p.Tyr543Asp)
c.15T>G
17g.80111017A=CA2277814229GAAc.1628A= (p.Tyr543=)
c.16A=
17g.80111017A>CCA401367364GAAc.1628A>C (p.Tyr543Ser)
c.16A>C
17g.80111017A>GCA401367360GAAc.1628A>G (p.Tyr543Cys)
c.16A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80111017A>TCA401367362GAAc.1628A>T (p.Tyr543Phe)
c.16A>T
17g.80111018C>ACA401367366GAAc.1629C>A (p.Tyr543Ter)
c.17C>A
17g.80111018C=CA2277814230GAAc.1629C= (p.Tyr543=)
c.17C=
17g.80111018C>GCA401367368GAAc.1629C>G (p.Tyr543Ter)
c.17C>G
17g.80111018C>TCA8815394GAAc.1629C>T (p.Tyr543=)
c.17C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111018_80111019delinsCGCA2277814231GAAc.1629_1630delinsCG (p.Tyr543=)
c.17_18delinsCG
17g.80111018_80111019delinsTACA915952253GAAc.1629_1630delinsTA (p.Val544Met)
c.17_18delinsTA
ClinVar dbSNP
17g.80111019G>ACA8815395GAAc.1630G>A (p.Val544Met)
c.18G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111019G>CCA401367371GAAc.1630G>C (p.Val544Leu)
c.18G>C
17g.80111019G=CA2277814232GAAc.1630G= (p.Val544=)
c.18G=
17g.80111019G>TCA401367373GAAc.1630G>T (p.Val544Leu)
c.18G>T
17g.80111020T>ACA401367375GAAc.1631T>A (p.Val544Glu)
c.19T>A
ClinVar dbSNP
17g.80111020T>CCA401367378GAAc.1631T>C (p.Val544Ala)
c.19T>C
17g.80111020T>GCA401367376GAAc.1631T>G (p.Val544Gly)
c.19T>G
17g.80111020T=CA2277814233GAAc.1631T= (p.Val544=)
c.19T=
17g.80111021G>ACA502178731GAAc.1632G>A (p.Val544=)
c.20G>A
17g.80111021G>CCA502178734GAAc.1632G>C (p.Val544=)
c.20G>C
ClinVar
17g.80111021G>TCA502178733GAAc.1632G>T (p.Val544=)
c.20G>T
ClinVar gnomAD v4
17g.80111022C>ACA401367380GAAc.1633C>A (p.Pro545Thr)
c.21C>A
17g.80111022C>GCA401367382GAAc.1633C>G (p.Pro545Ala)
c.21C>G
17g.80111022C>TCA401367384GAAc.1633C>T (p.Pro545Ser)
c.21C>T
ClinVar dbSNP gnomAD v4
17g.80111023C>ACA401367386GAAc.1634C>A (p.Pro545His)
c.22C>A
17g.80111023C=CA2277814234GAAc.1634C= (p.Pro545=)
c.22C=
17g.80111023C>GCA401367388GAAc.1634C>G (p.Pro545Arg)
c.22C>G
17g.80111023C>TCA116616GAAc.1634C>T (p.Pro545Leu)
c.22C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111024T>ACA502178737GAAc.1635T>A (p.Pro545=)
c.23T>A
ClinVar
17g.80111024T>CCA502178738GAAc.1635T>C (p.Pro545=)
c.23T>C
gnomAD v4
17g.80111024T>GCA502178739GAAc.1635T>G (p.Pro545=)
c.23T>G
17g.80111025G>ACA401367391GAAc.1636G>A (p.Gly546Arg)
c.24G>A
gnomAD v4
17g.80111025G>CCA401367392GAAc.1636G>C (p.Gly546Arg)
c.24G>C
17g.80111025G>TCA401367394GAAc.1636G>T (p.Gly546Trp)
c.24G>T
17g.80111026G>ACA401367396GAAc.1636+1G>A (n.1636+1G>A)
c.24+1G>A
ClinVar
17g.80111026G>CCA401367398GAAc.1636+1G>C (n.1636+1G>C)
c.24+1G>C
17g.80111026G>TCA401367400GAAc.1636+1G>T (n.1636+1G>T)
c.24+1G>T
dbSNP
17g.80111027T>ACA401367402GAAc.1636+2T>A (n.1636+2T>A)
c.24+2T>A
17g.80111027T>CCA401367405GAAc.1636+2T>C (n.1636+2T>C)
c.24+2T>C
17g.80111027T>GCA401367403GAAc.1636+2T>G (n.1636+2T>G)
c.24+2T>G
17g.80111029A=CA2277814236GAAc.1636+4A= (n.1636+4A=)
c.24+4A=
17g.80111029A>GCA627699648GAAc.1636+4A>G (n.1636+4A>G)
c.24+4A>G
dbSNP gnomAD v2 gnomAD v4
17g.80111029A>TCA2277814235GAAc.1636+4A>T (n.1636+4A>T)
c.24+4A>T
dbSNP
17g.80111030G>ACA2695227098GAAc.1636+5G>A (n.1636+5G>A)
c.24+5G>A
17g.80111030G>CCA658795261GAAc.1636+5G>C (n.1636+5G>C)
c.24+5G>C
gnomAD v4
17g.80111030G>TCA658795260GAAc.1636+5G>T (n.1636+5G>T)
c.24+5G>T
gnomAD v4
17g.80111031C=CA2277814237GAAc.1636+6C= (n.1636+6C=)
c.24+6C=
17g.80111031C>TCA627699649GAAc.1636+6C>T (n.1636+6C>T)
c.24+6C>T
dbSNP gnomAD v2
17g.80111032delCA2697555228GAAc.1636+7del (n.1636+7del)
c.24+7del
ClinVar
17g.80111032T>CCA294895083GAAc.1636+7T>C (n.1636+7T>C)
c.24+7T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80111032T=CA2277814238GAAc.1636+7T= (n.1636+7T=)
c.24+7T=
17g.80111033C=CA2277814239GAAc.1636+8C= (n.1636+8C=)
c.24+8C=
17g.80111033C>TCA8815396GAAc.1636+8C>T (n.1636+8C>T)
c.24+8C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111034G>ACA8815399GAAc.1636+9G>A (n.1636+9G>A)
c.24+9G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111034G=CA2277814240GAAc.1636+9G= (n.1636+9G=)
c.24+9G=
17g.80111034G>TCA8815397GAAc.1636+9G>T (n.1636+9G>T)
c.24+9G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111035C>ACA8815400GAAc.1636+10C>A (n.1636+10C>A)
c.24+10C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111035C=CA2277814241GAAc.1636+10C= (n.1636+10C=)
c.24+10C=
17g.80111035C>GCA2573154979GAAc.1636+10C>G (n.1636+10C>G)
c.24+10C>G
ClinVar dbSNP
17g.80111035C>TCA8815401GAAc.1636+10C>T (n.1636+10C>T)
c.24+10C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111040dupCA8815398GAAc.1636+15dup (n.1636+15dup)
c.24+15dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111040delCA2640289126GAAc.1636+15del (n.1636+15del)
c.24+15del
gnomAD v4
17g.80111036C>TCA2739268479GAAc.1636+11C>T (n.1636+11C>T)
c.24+11C>T
ClinVar
17g.80111037C>GCA2739268480GAAc.1636+12C>G (n.1636+12C>G)
c.24+12C>G
ClinVar
17g.80111037C>TCA2580095761GAAc.1636+12C>T (n.1636+12C>T)
c.24+12C>T
ClinVar
17g.80111038C>ACA2810585824GAAc.1636+13C>A (n.1636+13C>A)
c.24+13C>A
17g.80111038C>TCA2576414111GAAc.1636+13C>T (n.1636+13C>T)
c.24+13C>T
17g.80111039C>ACA2576414112GAAc.1636+14C>A (n.1636+14C>A)
c.24+14C>A
17g.80111039C=CA2277814242GAAc.1636+14C= (n.1636+14C=)
c.24+14C=
17g.80111039C>GCA2733932631GAAc.1636+14C>G (n.1636+14C>G)
c.24+14C>G
dbSNP
17g.80111039C>TCA8815402GAAc.1636+14C>T (n.1636+14C>T)
c.24+14C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111040C>ACA2576414113GAAc.1636+15C>A (n.1636+15C>A)
c.24+15C>A
gnomAD v4
17g.80111040C=CA2277814243GAAc.1636+15C= (n.1636+15C=)
c.24+15C=
17g.80111040C>GCA2580095762GAAc.1636+15C>G (n.1636+15C>G)
c.24+15C>G
ClinVar gnomAD v4
17g.80111040C>TCA2277814244GAAc.1636+15C>T (n.1636+15C>T)
c.24+15C>T
ClinVar dbSNP gnomAD v4
17g.80111041A>GCA2576414114GAAc.1636+16A>G (n.1636+16A>G)
c.24+16A>G
17g.80111042C=CA2277814245GAAc.1636+17C= (n.1636+17C=)
c.24+17C=
17g.80111042C>TCA294895124GAAc.1636+17C>T (n.1636+17C>T)
c.24+17C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80111043C=CA2277814246GAAc.1636+18C= (n.1636+18C=)
c.24+18C=
17g.80111043C>GCA2640289160GAAc.1636+18C>G (n.1636+18C>G)
c.24+18C>G
gnomAD v4
17g.80111043C>TCA8815403GAAc.1636+18C>T (n.1636+18C>T)
c.24+18C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111044T>ACA2640289165GAAc.1636+19T>A (n.1636+19T>A)
c.24+19T>A
ClinVar gnomAD v4
17g.80111045A=CA2277814247GAAc.1636+20A= (n.1636+20A=)
c.24+20A=
17g.80111045A>TCA2277814248GAAc.1636+20A>T (n.1636+20A>T)
c.24+20A>T
dbSNP gnomAD v4
17g.80111047C>ACA2640289169GAAc.1636+22C>A (n.1636+22C>A)
c.24+22C>A
gnomAD v4
17g.80111047C=CA2277814249GAAc.1636+22C= (n.1636+22C=)
c.24+22C=
17g.80111047C>GCA8815404GAAc.1636+22C>G (n.1636+22C>G)
c.24+22C>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111047C>TCA627699650GAAc.1636+22C>T (n.1636+22C>T)
c.24+22C>T
dbSNP gnomAD v2
17g.80111048C>ACA2640289173GAAc.1636+23C>A (n.1636+23C>A)
c.24+23C>A
gnomAD v4
17g.80111048C>GCA2640289182GAAc.1636+23C>G (n.1636+23C>G)
c.24+23C>G
gnomAD v4
17g.80111048_80111049delinsCTCA2277814250GAAc.1636+23_1636+24delinsCT (n.1636+23_1636+24delinsCT)
c.24+23_24+24delinsCT
17g.80111049delCA8815405GAAc.1636+24del (n.1636+24del)
c.24+24del
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111049T>CCA2277814251GAAc.1636+24T>C (n.1636+24T>C)
c.24+24T>C
dbSNP
17g.80111049T>GCA2640289198GAAc.1636+24T>G (n.1636+24T>G)
c.24+24T>G
gnomAD v4
17g.80111049T=CA2277814252GAAc.1636+24T= (n.1636+24T=)
c.24+24T=
17g.80111050G>ACA2640289205GAAc.1636+25G>A (n.1636+25G>A)
c.24+25G>A
gnomAD v4
17g.80111050G>TCA2640289206GAAc.1636+25G>T (n.1636+25G>T)
c.24+25G>T
gnomAD v4
17g.80111053delCA2640289203GAAc.1636+28del (n.1636+28del)
c.24+28del
gnomAD v4
17g.80111051G>ACA2576414115GAAc.1636+26G>A (n.1636+26G>A)
c.24+26G>A
17g.80111052G>CCA2640289211GAAc.1636+27G>C (n.1636+27G>C)
c.24+27G>C
gnomAD v4
17g.80111053G>ACA8815407GAAc.1636+28G>A (n.1636+28G>A)
c.24+28G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111053G>CCA775516999GAAc.1636+28G>C (n.1636+28G>C)
c.24+28G>C
dbSNP gnomAD v3 gnomAD v4
17g.80111053G=CA2277814253GAAc.1636+28G= (n.1636+28G=)
c.24+28G=
17g.80111053G>TCA8815406GAAc.1636+28G>T (n.1636+28G>T)
c.24+28G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111055C>ACA2640289224GAAc.1636+30C>A (n.1636+30C>A)
c.24+30C>A
gnomAD v4
17g.80111055C>TCA2640289226GAAc.1636+30C>T (n.1636+30C>T)
c.24+30C>T
gnomAD v4
17g.80111057T>ACA775517004GAAc.1636+32T>A (n.1636+32T>A)
c.24+32T>A
dbSNP gnomAD v3 gnomAD v4
17g.80111057T=CA2277814254GAAc.1636+32T= (n.1636+32T=)
c.24+32T=
17g.80111058A>CCA2640289231GAAc.1636+33A>C (n.1636+33A>C)
c.24+33A>C
gnomAD v4
17g.80111061C>ACA2640289234GAAc.1636+36C>A (n.1636+36C>A)
c.24+36C>A
gnomAD v4
17g.80111061_80111062delinsCACA2277814255GAAc.1636+36_1636+37delinsCA (n.1636+36_1636+37delinsCA)
c.24+36_24+37delinsCA
17g.80111064delCA8815408GAAc.1636+39del (n.1636+39del)
c.24+39del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111064A>GCA2640289239GAAc.1636+39A>G (n.1636+39A>G)
c.24+39A>G
gnomAD v4
17g.80111065T>CCA627699651GAAc.1636+40T>C (n.1636+40T>C)
c.24+40T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80111065T=CA2277814256GAAc.1636+40T= (n.1636+40T=)
c.24+40T=
17g.80111066C>ACA2576414116GAAc.1636+41C>A (n.1636+41C>A)
c.24+41C>A
gnomAD v4
17g.80111066_80111068delinsCAGCA2277814257GAAc.1636+41_1636+43delinsCAG (n.1636+41_1636+43delinsCAG)
c.24+41_24+43delinsCAG
17g.80111070_80111071delCA627699652GAAc.1636+45_1636+46del (n.1636+45_1636+46del)
c.24+45_24+46del
dbSNP gnomAD v2 gnomAD v4
17g.80111068G>ACA2581285038GAAc.1636+43G>A (n.1636+43G>A)
c.24+43G>A
17g.80111068G>CCA2581285037GAAc.1636+43G>C (n.1636+43G>C)
c.24+43G>C
17g.80111068G=CA2277814258GAAc.1636+43G= (n.1636+43G=)
c.24+43G=
17g.80111068G>TCA8815409GAAc.1636+43G>T (n.1636+43G>T)
c.24+43G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111069A>TCA2640289247GAAc.1636+44A>T (n.1636+44A>T)
c.24+44A>T
gnomAD v4
17g.80111070G>ACA2640289248GAAc.1636+45G>A (n.1636+45G>A)
c.24+45G>A
gnomAD v4
17g.80111071A=CA2277814259GAAc.1636+46A= (n.1636+46A=)
c.24+46A=
17g.80111071A>CCA2640289249GAAc.1636+46A>C (n.1636+46A>C)
c.24+46A>C
gnomAD v4
17g.80111071A>GCA775517012GAAc.1636+46A>G (n.1636+46A>G)
c.24+46A>G
dbSNP gnomAD v3 gnomAD v4
17g.80111071A>TCA2640289250GAAc.1636+46A>T (n.1636+46A>T)
c.24+46A>T
dbSNP gnomAD v4
17g.80111072C>ACA2576414117GAAc.1636+47C>A (n.1636+47C>A)
c.24+47C>A
17g.80111073T>CCA8815410GAAc.1636+48T>C (n.1636+48T>C)
c.24+48T>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80111073T=CA2277814260GAAc.1636+48T= (n.1636+48T=)
c.24+48T=
17g.80111074C=CA2277814261GAAc.1636+49C= (n.1636+49C=)
c.24+49C=
17g.80111074C>GCA2640289253GAAc.1636+49C>G (n.1636+49C>G)
c.24+49C>G
gnomAD v4
17g.80111074C>TCA2277814262GAAc.1636+49C>T (n.1636+49C>T)
c.24+49C>T
dbSNP gnomAD v4
17g.80111075C=CA2277814263GAAc.1636+50C= (n.1636+50C=)
c.24+50C=
17g.80111075C>TCA8815411GAAc.1636+50C>T (n.1636+50C>T)
c.24+50C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80111078_80111087dupCA2640289254GAAc.1636+53_1636+62dup (n.1636+53_1636+62dup)
c.24+53_24+62dup
gnomAD v4
17g.80111076C>TCA2576414118GAAc.1636+51C>T (n.1636+51C>T)
c.24+51C>T
17g.80111078T>CCA986707449GAAc.1636+53T>C (n.1636+53T>C)
c.24+53T>C
dbSNP gnomAD v3 gnomAD v4
17g.80111078T=CA2277814264GAAc.1636+53T= (n.1636+53T=)
c.24+53T=
17g.80111079G>ACA2640289260GAAc.1636+54G>A (n.1636+54G>A)
c.24+54G>A
gnomAD v4
17g.80111079G>CCA294895137GAAc.1636+54G>C (n.1636+54G>C)
c.24+54G>C
dbSNP gnomAD v4
17g.80111079G=CA2277814265GAAc.1636+54G= (n.1636+54G=)
c.24+54G=
17g.80111079G>TCA2640289264GAAc.1636+54G>T (n.1636+54G>T)
c.24+54G>T
gnomAD v4
17g.80111080T>ACA2576414119GAAc.1636+55T>A (n.1636+55T>A)
c.24+55T>A
17g.80111081C>ACA2576414120GAAc.1636+56C>A (n.1636+56C>A)
c.24+56C>A
gnomAD v4
17g.80111081C>GCA2640289265GAAc.1636+56C>G (n.1636+56C>G)
c.24+56C>G
gnomAD v4
17g.80111082T>ACA2640289266GAAc.1636+57T>A (n.1636+57T>A)
c.24+57T>A
gnomAD v4
17g.80111082T>GCA2640289267GAAc.1636+57T>G (n.1636+57T>G)
c.24+57T>G
gnomAD v4

Number of alleles fetched