Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77917970T>ACA340886196NEXNc.230T>A (p.Met77Lys)
c.38T>A (p.Met13Lys)
1g.77917970T>CCA340886198NEXNc.230T>C (p.Met77Thr)
c.38T>C (p.Met13Thr)
1g.77917970T>GCA340886200NEXNc.230T>G (p.Met77Arg)
c.38T>G (p.Met13Arg)
1g.77917971G>ACA340886201NEXNc.231G>A (p.Met77Ile)
c.39G>A (p.Met13Ile)
1g.77917971G>CCA340886202NEXNc.231G>C (p.Met77Ile)
c.39G>C (p.Met13Ile)
gnomAD v4
1g.77917971G>TCA340886205NEXNc.231G>T (p.Met77Ile)
c.39G>T (p.Met13Ile)
1g.77917972C>ACA340886207NEXNc.232C>A (p.Leu78Ile)
c.40C>A (p.Leu14Ile)
COSMIC COSMIC
1g.77917972C=CA1177620258NEXNc.232C= (p.Leu78=)
c.40C= (p.Leu14=)
1g.77917972C>GCA340886208NEXNc.232C>G (p.Leu78Val)
c.40C>G (p.Leu14Val)
gnomAD v4
1g.77917972C>TCA340886209NEXNc.232C>T (p.Leu78Phe)
c.40C>T (p.Leu14Phe)
dbSNP gnomAD v2 gnomAD v4
1g.77917973T>ACA340886213NEXNc.233T>A (p.Leu78His)
c.41T>A (p.Leu14His)
1g.77917973T>CCA340886214NEXNc.233T>C (p.Leu78Pro)
c.41T>C (p.Leu14Pro)
1g.77917973T>GCA340886211NEXNc.233T>G (p.Leu78Arg)
c.41T>G (p.Leu14Arg)
1g.77917974T>ACA418708980NEXNc.234T>A (p.Leu78=)
c.42T>A (p.Leu14=)
1g.77917974T>CCA418708981NEXNc.234T>C (p.Leu78=)
c.42T>C (p.Leu14=)
1g.77917974T>GCA418708982NEXNc.234T>G (p.Leu78=)
c.42T>G (p.Leu14=)
gnomAD v4
1g.77917975G>ACA340886216NEXNc.235G>A (p.Ala79Thr)
c.43G>A (p.Ala15Thr)
1g.77917975G>CCA340886217NEXNc.235G>C (p.Ala79Pro)
c.43G>C (p.Ala15Pro)
1g.77917975G>TCA340886219NEXNc.235G>T (p.Ala79Ser)
c.43G>T (p.Ala15Ser)
1g.77917976C>ACA340886224NEXNc.236C>A (p.Ala79Asp)
c.44C>A (p.Ala15Asp)
1g.77917976C>GCA340886226NEXNc.236C>G (p.Ala79Gly)
c.44C>G (p.Ala15Gly)
1g.77917976C>TCA340886227NEXNc.236C>T (p.Ala79Val)
c.44C>T (p.Ala15Val)
1g.77917977T>ACA418708984NEXNc.237T>A (p.Ala79=)
c.45T>A (p.Ala15=)
1g.77917977T>CCA183347NEXNc.237T>C (p.Ala79=)
c.45T>C (p.Ala15=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77917977T>GCA418708985NEXNc.237T>G (p.Ala79=)
c.45T>G (p.Ala15=)
1g.77917977T=CA1148224370NEXNc.237T= (p.Ala79=)
c.45T= (p.Ala15=)
1g.77917978T>ACA340886229NEXNc.238T>A (p.Ser80Thr)
c.46T>A (p.Ser16Thr)
1g.77917978T>CCA340886231NEXNc.238T>C (p.Ser80Pro)
c.46T>C (p.Ser16Pro)
1g.77917978T>GCA340886232NEXNc.238T>G (p.Ser80Ala)
c.46T>G (p.Ser16Ala)
1g.77917979C>ACA340886235NEXNc.239C>A (p.Ser80Tyr)
c.47C>A (p.Ser16Tyr)
1g.77917979C>GCA340886236NEXNc.239C>G (p.Ser80Cys)
c.47C>G (p.Ser16Cys)
1g.77917979C>TCA340886238NEXNc.239C>T (p.Ser80Phe)
c.47C>T (p.Ser16Phe)
1g.77917980T>ACA418708987NEXNc.240T>A (p.Ser80=)
c.48T>A (p.Ser16=)
1g.77917980T>CCA418708988NEXNc.240T>C (p.Ser80=)
c.48T>C (p.Ser16=)
1g.77917980T>GCA418708989NEXNc.240T>G (p.Ser80=)
c.48T>G (p.Ser16=)
1g.77917981G>ACA340886239NEXNc.241G>A (p.Asp81Asn)
c.49G>A (p.Asp17Asn)
1g.77917981G>CCA340886241NEXNc.241G>C (p.Asp81His)
c.49G>C (p.Asp17His)
1g.77917981G>TCA340886240NEXNc.241G>T (p.Asp81Tyr)
c.49G>T (p.Asp17Tyr)
1g.77917982A=CA1143559767NEXNc.242A= (p.Asp81=)
c.50A= (p.Asp17=)
1g.77917982A>CCA340886242NEXNc.242A>C (p.Asp81Ala)
c.50A>C (p.Asp17Ala)
1g.77917982A>GCA340886243NEXNc.242A>G (p.Asp81Gly)
c.50A>G (p.Asp17Gly)
1g.77917982A>TCA335385NEXNc.242A>T (p.Asp81Val)
c.50A>T (p.Asp17Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77917983T>ACA340886244NEXNc.243T>A (p.Asp81Glu)
c.51T>A (p.Asp17Glu)
1g.77917983T>CCA418708991NEXNc.243T>C (p.Asp81=)
c.51T>C (p.Asp17=)
1g.77917983T>GCA340886245NEXNc.243T>G (p.Asp81Glu)
c.51T>G (p.Asp17Glu)
1g.77917984G>ACA340886247NEXNc.244G>A (p.Asp82Asn)
c.52G>A (p.Asp18Asn)
ClinVar dbSNP gnomAD v4
1g.77917984G>CCA918598NEXNc.244G>C (p.Asp82His)
c.52G>C (p.Asp18His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77917984G=CA1143370487NEXNc.244G= (p.Asp82=)
c.52G= (p.Asp18=)
1g.77917984G>TCA340886249NEXNc.244G>T (p.Asp82Tyr)
c.52G>T (p.Asp18Tyr)
1g.77917985A>CCA340886252NEXNc.245A>C (p.Asp82Ala)
c.53A>C (p.Asp18Ala)
1g.77917985A>GCA340886254NEXNc.245A>G (p.Asp82Gly)
c.53A>G (p.Asp18Gly)
1g.77917985A>TCA340886256NEXNc.245A>T (p.Asp82Val)
c.53A>T (p.Asp18Val)
1g.77917986T>ACA340886259NEXNc.246T>A (p.Asp82Glu)
c.54T>A (p.Asp18Glu)
1g.77917986T>CCA418708995NEXNc.246T>C (p.Asp82=)
c.54T>C (p.Asp18=)
ClinVar dbSNP
1g.77917986T>GCA340886257NEXNc.246T>G (p.Asp82Glu)
c.54T>G (p.Asp18Glu)
1g.77917986T=CA1177620259NEXNc.246T= (p.Asp82=)
c.54T= (p.Asp18=)
1g.77917987G>ACA918599NEXNc.247G>A (p.Glu83Lys)
c.55G>A (p.Glu19Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.77917987G>CCA24705293NEXNc.247G>C (p.Glu83Gln)
c.55G>C (p.Glu19Gln)
dbSNP
1g.77917987G=CA1177620260NEXNc.247G= (p.Glu83=)
c.55G= (p.Glu19=)
1g.77917987G>TCA340886261NEXNc.247G>T (p.Glu83Ter)
c.55G>T (p.Glu19Ter)
1g.77917988A>CCA340886263NEXNc.248A>C (p.Glu83Ala)
c.56A>C (p.Glu19Ala)
1g.77917988A>GCA340886267NEXNc.248A>G (p.Glu83Gly)
c.56A>G (p.Glu19Gly)
1g.77917988A>TCA340886265NEXNc.248A>T (p.Glu83Val)
c.56A>T (p.Glu19Val)
1g.77917989G>ACA181406NEXNc.249G>A (p.Glu83=)
c.57G>A (p.Glu19=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77917989G>CCA142148NEXNc.249G>C (p.Glu83Asp)
c.57G>C (p.Glu19Asp)
ClinVar dbSNP gnomAD v2
1g.77917989G=CA1143868024NEXNc.249G= (p.Glu83=)
c.57G= (p.Glu19=)
1g.77917989G>TCA340886269NEXNc.249G>T (p.Glu83Asp)
c.57G>T (p.Glu19Asp)
1g.77917990G>ACA918600NEXNc.250G>A (p.Glu84Lys)
c.58G>A (p.Glu20Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77917990G>CCA340886273NEXNc.250G>C (p.Glu84Gln)
c.58G>C (p.Glu20Gln)
1g.77917990G=CA1145764931NEXNc.250G= (p.Glu84=)
c.58G= (p.Glu20=)
1g.77917990G>TCA340886272NEXNc.250G>T (p.Glu84Ter)
c.58G>T (p.Glu20Ter)
1g.77917991A>CCA340886275NEXNc.251A>C (p.Glu84Ala)
c.59A>C (p.Glu20Ala)
1g.77917991A>GCA340886277NEXNc.251A>G (p.Glu84Gly)
c.59A>G (p.Glu20Gly)
1g.77917991A>TCA340886276NEXNc.251A>T (p.Glu84Val)
c.59A>T (p.Glu20Val)
1g.77917992A=CA1177620261NEXNc.252A= (p.Glu84=)
c.60A= (p.Glu20=)
1g.77917992A>CCA340886278NEXNc.252A>C (p.Glu84Asp)
c.60A>C (p.Glu20Asp)
1g.77917992A>GCA418708998NEXNc.252A>G (p.Glu84=)
c.60A>G (p.Glu20=)
dbSNP gnomAD v2 gnomAD v4
1g.77917992A>TCA340886279NEXNc.252A>T (p.Glu84Asp)
c.60A>T (p.Glu20Asp)
1g.77917993G>ACA340886281NEXNc.253G>A (p.Asp85Asn)
c.61G>A (p.Asp21Asn)
1g.77917993G>CCA340886283NEXNc.253G>C (p.Asp85His)
c.61G>C (p.Asp21His)
1g.77917993G>TCA340886284NEXNc.253G>T (p.Asp85Tyr)
c.61G>T (p.Asp21Tyr)
1g.77917994A=CA1177620262NEXNc.254A= (p.Asp85=)
c.62A= (p.Asp21=)
1g.77917994A>CCA340886287NEXNc.254A>C (p.Asp85Ala)
c.62A>C (p.Asp21Ala)
1g.77917994A>GCA340886288NEXNc.254A>G (p.Asp85Gly)
c.62A>G (p.Asp21Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77917994A>TCA340886289NEXNc.254A>T (p.Asp85Val)
c.62A>T (p.Asp21Val)
1g.77917995T>ACA340886290NEXNc.255T>A (p.Asp85Glu)
c.63T>A (p.Asp21Glu)
dbSNP gnomAD v2 gnomAD v4
1g.77917995T>CCA418709000NEXNc.255T>C (p.Asp85=)
c.63T>C (p.Asp21=)
1g.77917995T>GCA918601NEXNc.255T>G (p.Asp85Glu)
c.63T>G (p.Asp21Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77917995T=CA1147150066NEXNc.255T= (p.Asp85=)
c.63T= (p.Asp21=)
1g.77917996G>ACA340886294NEXNc.256G>A (p.Val86Ile)
c.64G>A (p.Val22Ile)
dbSNP gnomAD v2 gnomAD v4
1g.77917996G>CCA340886295NEXNc.256G>C (p.Val86Leu)
c.64G>C (p.Val22Leu)
1g.77917996G=CA1177620263NEXNc.256G= (p.Val86=)
c.64G= (p.Val22=)
1g.77917996G>TCA340886296NEXNc.256G>T (p.Val86Leu)
c.64G>T (p.Val22Leu)
dbSNP gnomAD v2 gnomAD v4
1g.77917997T>ACA340886300NEXNc.257T>A (p.Val86Glu)
c.65T>A (p.Val22Glu)
1g.77917997T>CCA340886298NEXNc.257T>C (p.Val86Ala)
c.65T>C (p.Val22Ala)
ClinVar dbSNP gnomAD v4 COSMIC
1g.77917997T>GCA340886299NEXNc.257T>G (p.Val86Gly)
c.65T>G (p.Val22Gly)
1g.77917997T=CA1177620264NEXNc.257T= (p.Val86=)
c.65T= (p.Val22=)
1g.77917998A>CCA418709002NEXNc.258A>C (p.Val86=)
c.66A>C (p.Val22=)
1g.77917998A>GCA418709003NEXNc.258A>G (p.Val86=)
c.66A>G (p.Val22=)
1g.77917998A>TCA418709004NEXNc.258A>T (p.Val86=)
c.66A>T (p.Val22=)
1g.77917999T>ACA340886301NEXNc.259T>A (p.Ser87Thr)
c.67T>A (p.Ser23Thr)
gnomAD v4
1g.77917999T>CCA340886303NEXNc.259T>C (p.Ser87Pro)
c.67T>C (p.Ser23Pro)
1g.77917999T>GCA340886304NEXNc.259T>G (p.Ser87Ala)
c.67T>G (p.Ser23Ala)
1g.77918000C>ACA340886305NEXNc.260C>A (p.Ser87Tyr)
c.68C>A (p.Ser23Tyr)
1g.77918000C>GCA340886311NEXNc.260C>G (p.Ser87Cys)
c.68C>G (p.Ser23Cys)
1g.77918000C>TCA340886312NEXNc.260C>T (p.Ser87Phe)
c.68C>T (p.Ser23Phe)
COSMIC COSMIC
1g.77918001T>ACA418709007NEXNc.261T>A (p.Ser87=)
c.69T>A (p.Ser23=)
1g.77918001T>CCA418709008NEXNc.261T>C (p.Ser87=)
c.69T>C (p.Ser23=)
1g.77918001T>GCA418709006NEXNc.261T>G (p.Ser87=)
c.69T>G (p.Ser23=)
1g.77918002T>ACA340886314NEXNc.262T>A (p.Ser88Thr)
c.70T>A (p.Ser24Thr)
1g.77918002T>CCA340886316NEXNc.262T>C (p.Ser88Pro)
c.70T>C (p.Ser24Pro)
1g.77918002T>GCA340886317NEXNc.262T>G (p.Ser88Ala)
c.70T>G (p.Ser24Ala)
1g.77918003C>ACA340886321NEXNc.263C>A (p.Ser88Tyr)
c.71C>A (p.Ser24Tyr)
1g.77918003C>GCA340886322NEXNc.263C>G (p.Ser88Cys)
c.71C>G (p.Ser24Cys)
1g.77918003C>TCA340886323NEXNc.263C>T (p.Ser88Phe)
c.71C>T (p.Ser24Phe)
1g.77918004T>ACA418709012NEXNc.264T>A (p.Ser88=)
c.72T>A (p.Ser24=)
1g.77918004T>CCA418709011NEXNc.264T>C (p.Ser88=)
c.72T>C (p.Ser24=)
1g.77918004T>GCA418709010NEXNc.264T>G (p.Ser88=)
c.72T>G (p.Ser24=)
1g.77918005A>CCA340886324NEXNc.265A>C (p.Lys89Gln)
c.73A>C (p.Lys25Gln)
1g.77918005A>GCA340886326NEXNc.265A>G (p.Lys89Glu)
c.73A>G (p.Lys25Glu)
gnomAD v4
1g.77918005A>TCA340886325NEXNc.265A>T (p.Lys89Ter)
c.73A>T (p.Lys25Ter)
gnomAD v4
1g.77918006A>CCA340886327NEXNc.266A>C (p.Lys89Thr)
c.74A>C (p.Lys25Thr)
gnomAD v4
1g.77918006A>GCA340886328NEXNc.266A>G (p.Lys89Arg)
c.74A>G (p.Lys25Arg)
1g.77918006A>TCA340886329NEXNc.266A>T (p.Lys89Ile)
c.74A>T (p.Lys25Ile)
1g.77918007A>CCA340886330NEXNc.267A>C (p.Lys89Asn)
c.75A>C (p.Lys25Asn)
1g.77918007A>GCA418709014NEXNc.267A>G (p.Lys89=)
c.75A>G (p.Lys25=)
1g.77918007A>TCA340886331NEXNc.267A>T (p.Lys89Asn)
c.75A>T (p.Lys25Asn)
1g.77918008G>ACA340886332NEXNc.268G>A (p.Val90Ile)
c.76G>A (p.Val26Ile)
1g.77918008G>CCA340886333NEXNc.268G>C (p.Val90Leu)
c.76G>C (p.Val26Leu)
1g.77918008G>TCA340886334NEXNc.268G>T (p.Val90Leu)
c.76G>T (p.Val26Leu)
1g.77918009T>ACA340886335NEXNc.269T>A (p.Val90Glu)
c.77T>A (p.Val26Glu)
1g.77918009T>CCA340886336NEXNc.269T>C (p.Val90Ala)
c.77T>C (p.Val26Ala)
1g.77918009T>GCA340886337NEXNc.269T>G (p.Val90Gly)
c.77T>G (p.Val26Gly)
1g.77918010A=CA1177620265NEXNc.270A= (p.Val90=)
c.78A= (p.Val26=)
1g.77918010A>CCA418709015NEXNc.270A>C (p.Val90=)
c.78A>C (p.Val26=)
1g.77918010A>GCA918602NEXNc.270A>G (p.Val90=)
c.78A>G (p.Val26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918010A>TCA418709016NEXNc.270A>T (p.Val90=)
c.78A>T (p.Val26=)
1g.77918011G>ACA340886340NEXNc.271G>A (p.Glu91Lys)
c.79G>A (p.Glu27Lys)
1g.77918011G>CCA340886338NEXNc.271G>C (p.Glu91Gln)
c.79G>C (p.Glu27Gln)
gnomAD v4
1g.77918011G>TCA340886339NEXNc.271G>T (p.Glu91Ter)
c.79G>T (p.Glu27Ter)
1g.77918012A=CA1177620266NEXNc.272A= (p.Glu91=)
c.80A= (p.Glu27=)
1g.77918012A>CCA340886341NEXNc.272A>C (p.Glu91Ala)
c.80A>C (p.Glu27Ala)
1g.77918012A>GCA918603NEXNc.272A>G (p.Glu91Gly)
c.80A>G (p.Glu27Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918012A>TCA340886342NEXNc.272A>T (p.Glu91Val)
c.80A>T (p.Glu27Val)
1g.77918013A>CCA340886343NEXNc.273A>C (p.Glu91Asp)
c.81A>C (p.Glu27Asp)
1g.77918013A>GCA418709017NEXNc.273A>G (p.Glu91=)
c.81A>G (p.Glu27=)
1g.77918013A>TCA340886344NEXNc.273A>T (p.Glu91Asp)
c.81A>T (p.Glu27Asp)
1g.77918014A=CA1177620267NEXNc.274A= (p.Lys92=)
c.82A= (p.Lys28=)
1g.77918014A>CCA340886345NEXNc.274A>C (p.Lys92Gln)
c.82A>C (p.Lys28Gln)
1g.77918014A>GCA340886346NEXNc.274A>G (p.Lys92Glu)
c.82A>G (p.Lys28Glu)
dbSNP
1g.77918014A>TCA340886347NEXNc.274A>T (p.Lys92Ter)
c.82A>T (p.Lys28Ter)
1g.77918015A>CCA340886348NEXNc.275A>C (p.Lys92Thr)
c.83A>C (p.Lys28Thr)
1g.77918015A>GCA340886349NEXNc.275A>G (p.Lys92Arg)
c.83A>G (p.Lys28Arg)
1g.77918015A>TCA340886350NEXNc.275A>T (p.Lys92Met)
c.83A>T (p.Lys28Met)
1g.77918016G>ACA418709021NEXNc.276G>A (p.Lys92=)
c.84G>A (p.Lys28=)
1g.77918016G>CCA340886351NEXNc.276G>C (p.Lys92Asn)
c.84G>C (p.Lys28Asn)
1g.77918016G>TCA340886352NEXNc.276G>T (p.Lys92Asn)
c.84G>T (p.Lys28Asn)
COSMIC COSMIC
1g.77918017G>ACA340886353NEXNc.277G>A (p.Ala93Thr)
c.85G>A (p.Ala29Thr)
dbSNP gnomAD v2 gnomAD v4
1g.77918017G>CCA340886354NEXNc.277G>C (p.Ala93Pro)
c.85G>C (p.Ala29Pro)
ClinVar dbSNP gnomAD v4
1g.77918017G=CA1177620268NEXNc.277G= (p.Ala93=)
c.85G= (p.Ala29=)
1g.77918017G>TCA340886355NEXNc.277G>T (p.Ala93Ser)
c.85G>T (p.Ala29Ser)
1g.77918018C>ACA340886356NEXNc.278C>A (p.Ala93Asp)
c.86C>A (p.Ala29Asp)
1g.77918018C>GCA340886357NEXNc.278C>G (p.Ala93Gly)
c.86C>G (p.Ala29Gly)
gnomAD v4
1g.77918018C>TCA340886358NEXNc.278C>T (p.Ala93Val)
c.86C>T (p.Ala29Val)
1g.77918019T>ACA418709024NEXNc.279T>A (p.Ala93=)
c.87T>A (p.Ala29=)
1g.77918019T>CCA418709025NEXNc.279T>C (p.Ala93=)
c.87T>C (p.Ala29=)
gnomAD v4
1g.77918019T>GCA418709026NEXNc.279T>G (p.Ala93=)
c.87T>G (p.Ala29=)
1g.77918020T>ACA340886361NEXNc.280T>A (p.Tyr94Asn)
c.88T>A (p.Tyr30Asn)
1g.77918020T>CCA340886359NEXNc.280T>C (p.Tyr94His)
c.88T>C (p.Tyr30His)
1g.77918020T>GCA340886360NEXNc.280T>G (p.Tyr94Asp)
c.88T>G (p.Tyr30Asp)
dbSNP gnomAD v2 gnomAD v4
1g.77918020T=CA1177620269NEXNc.280T= (p.Tyr94=)
c.88T= (p.Tyr30=)
1g.77918021A>CCA340886362NEXNc.281A>C (p.Tyr94Ser)
c.89A>C (p.Tyr30Ser)
1g.77918021A>GCA340886363NEXNc.281A>G (p.Tyr94Cys)
c.89A>G (p.Tyr30Cys)
gnomAD v4
1g.77918021A>TCA340886364NEXNc.281A>T (p.Tyr94Phe)
c.89A>T (p.Tyr30Phe)
1g.77918022T>ACA340886365NEXNc.282T>A (p.Tyr94Ter)
c.90T>A (p.Tyr30Ter)
1g.77918022T>CCA418709028NEXNc.282T>C (p.Tyr94=)
c.90T>C (p.Tyr30=)
dbSNP gnomAD v3 gnomAD v4
1g.77918022T>GCA340886366NEXNc.282T>G (p.Tyr94Ter)
c.90T>G (p.Tyr30Ter)
1g.77918022T=CA1177620270NEXNc.282T= (p.Tyr94=)
c.90T= (p.Tyr30=)
1g.77918023G>ACA24705301NEXNc.283G>A (p.Val95Ile)
c.91G>A (p.Val31Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77918023G>CCA340886367NEXNc.283G>C (p.Val95Leu)
c.91G>C (p.Val31Leu)
1g.77918023G=CA1177620271NEXNc.283G= (p.Val95=)
c.91G= (p.Val31=)
1g.77918023G>TCA340886368NEXNc.283G>T (p.Val95Phe)
c.91G>T (p.Val31Phe)
1g.77918024T>ACA340886369NEXNc.284T>A (p.Val95Asp)
c.92T>A (p.Val31Asp)
1g.77918024T>CCA340886370NEXNc.284T>C (p.Val95Ala)
c.92T>C (p.Val31Ala)
gnomAD v4
1g.77918024T>GCA340886371NEXNc.284T>G (p.Val95Gly)
c.92T>G (p.Val31Gly)
1g.77918025T>ACA418709035NEXNc.285T>A (p.Val95=)
c.93T>A (p.Val31=)
1g.77918025T>CCA418709033NEXNc.285T>C (p.Val95=)
c.93T>C (p.Val31=)
1g.77918025T>GCA418709034NEXNc.285T>G (p.Val95=)
c.93T>G (p.Val31=)
1g.77918026C>ACA340886372NEXNc.286C>A (p.Pro96Thr)
c.94C>A (p.Pro32Thr)
1g.77918026C>GCA340886373NEXNc.286C>G (p.Pro96Ala)
c.94C>G (p.Pro32Ala)
1g.77918026C>TCA340886374NEXNc.286C>T (p.Pro96Ser)
c.94C>T (p.Pro32Ser)
1g.77918027C>ACA340886375NEXNc.287C>A (p.Pro96Gln)
c.95C>A (p.Pro32Gln)
1g.77918027C=CA1177620272NEXNc.287C= (p.Pro96=)
c.95C= (p.Pro32=)
1g.77918027C>GCA340886376NEXNc.287C>G (p.Pro96Arg)
c.95C>G (p.Pro32Arg)
1g.77918027C>TCA340886377NEXNc.287C>T (p.Pro96Leu)
c.95C>T (p.Pro32Leu)
dbSNP gnomAD v2 gnomAD v4
1g.77918028A>CCA418709043NEXNc.288A>C (p.Pro96=)
c.96A>C (p.Pro32=)
1g.77918028A>GCA418709045NEXNc.288A>G (p.Pro96=)
c.96A>G (p.Pro32=)
1g.77918028A>TCA418709044NEXNc.288A>T (p.Pro96=)
c.96A>T (p.Pro32=)
1g.77918029A>CCA340886378NEXNc.289A>C (p.Lys97Gln)
c.97A>C (p.Lys33Gln)
1g.77918029A>GCA340886379NEXNc.289A>G (p.Lys97Glu)
c.97A>G (p.Lys33Glu)
1g.77918029A>TCA340886380NEXNc.289A>T (p.Lys97Ter)
c.97A>T (p.Lys33Ter)
1g.77918030A>CCA340886381NEXNc.290A>C (p.Lys97Thr)
c.98A>C (p.Lys33Thr)
1g.77918030A>GCA340886383NEXNc.290A>G (p.Lys97Arg)
c.98A>G (p.Lys33Arg)
1g.77918030A>TCA340886382NEXNc.290A>T (p.Lys97Ile)
c.98A>T (p.Lys33Ile)
1g.77918031A>CCA340886384NEXNc.291A>C (p.Lys97Asn)
c.99A>C (p.Lys33Asn)
1g.77918031A>GCA418709048NEXNc.291A>G (p.Lys97=)
c.99A>G (p.Lys33=)
1g.77918031A>TCA340886385NEXNc.291A>T (p.Lys97Asn)
c.99A>T (p.Lys33Asn)
1g.77918032T>ACA340886386NEXNc.292T>A (p.Leu98Ile)
c.100T>A (p.Leu34Ile)
1g.77918032T>CCA918604NEXNc.292T>C (p.Leu98=)
c.100T>C (p.Leu34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918032T>GCA340886387NEXNc.292T>G (p.Leu98Val)
c.100T>G (p.Leu34Val)
1g.77918032T=CA1145146163NEXNc.292T= (p.Leu98=)
c.100T= (p.Leu34=)
1g.77918033T>ACA340886388NEXNc.293T>A (p.Leu98Ter)
c.101T>A (p.Leu34Ter)
ClinVar
1g.77918033T>CCA340886389NEXNc.293T>C (p.Leu98Ser)
c.101T>C (p.Leu34Ser)
1g.77918033T>GCA340886390NEXNc.293T>G (p.Leu98Ter)
c.101T>G (p.Leu34Ter)
1g.77918034A>CCA340886391NEXNc.294A>C (p.Leu98Phe)
c.102A>C (p.Leu34Phe)
1g.77918034A>GCA418709057NEXNc.294A>G (p.Leu98=)
c.102A>G (p.Leu34=)
1g.77918034A>TCA340886392NEXNc.294A>T (p.Leu98Phe)
c.102A>T (p.Leu34Phe)
1g.77918035A>CCA340886393NEXNc.295A>C (p.Thr99Pro)
c.103A>C (p.Thr35Pro)
1g.77918035A>GCA340886394NEXNc.295A>G (p.Thr99Ala)
c.103A>G (p.Thr35Ala)
1g.77918035A>TCA340886395NEXNc.295A>T (p.Thr99Ser)
c.103A>T (p.Thr35Ser)
1g.77918036C>ACA340886396NEXNc.296C>A (p.Thr99Lys)
c.104C>A (p.Thr35Lys)
1g.77918036C=CA1177620273NEXNc.296C= (p.Thr99=)
c.104C= (p.Thr35=)
1g.77918036C>GCA340886397NEXNc.296C>G (p.Thr99Arg)
c.104C>G (p.Thr35Arg)
1g.77918036C>TCA918605NEXNc.296C>T (p.Thr99Ile)
c.104C>T (p.Thr35Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918037A>CCA418709062NEXNc.297A>C (p.Thr99=)
c.105A>C (p.Thr35=)
1g.77918037A>GCA418709065NEXNc.297A>G (p.Thr99=)
c.105A>G (p.Thr35=)
gnomAD v4
1g.77918037A>TCA418709066NEXNc.297A>T (p.Thr99=)
c.105A>T (p.Thr35=)
1g.77918040_77918125delCA2600639596NEXNc.298+2_299del
c.106+2_107del
gnomAD v3 gnomAD v4
1g.77918038G>ACA340886398NEXNc.298G>A (p.Gly100Arg)
c.106G>A (p.Gly36Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77918038G>CCA340886399NEXNc.298G>C (p.Gly100Arg)
c.106G>C (p.Gly36Arg)
1g.77918038G=CA1177620274NEXNc.298G= (p.Gly100=)
c.106G= (p.Gly36=)
1g.77918038G>TCA340886400NEXNc.298G>T (p.Gly100Ter)
c.106G>T (p.Gly36Ter)
ClinVar
1g.77918039G>ACA340886401NEXNc.298+1G>A (n.298+1G>A)
c.106+1G>A (n.106+1G>A)
COSMIC COSMIC
1g.77918039G>CCA918606NEXNc.298+1G>C (n.298+1G>C)
c.106+1G>C (n.106+1G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918039G=CA1177620275NEXNc.298+1G= (n.298+1G=)
c.106+1G= (n.106+1G=)
1g.77918039G>TCA340886402NEXNc.298+1G>T (n.298+1G>T)
c.106+1G>T (n.106+1G>T)
1g.77918040_77918046delCA2499778477NEXNc.298+2_298+8del (n.298+2_298+8del)
c.106+2_106+8del (n.106+2_106+8del)
1g.77918040T>ACA340886403NEXNc.298+2T>A (n.298+2T>A)
c.106+2T>A (n.106+2T>A)
1g.77918040T>CCA340886404NEXNc.298+2T>C (n.298+2T>C)
c.106+2T>C (n.106+2T>C)
ClinVar
1g.77918040T>GCA340886405NEXNc.298+2T>G (n.298+2T>G)
c.106+2T>G (n.106+2T>G)
1g.77918045A>CCA2547567411NEXNc.298+7A>C (n.298+7A>C)
c.106+7A>C (n.106+7A>C)
1g.77918045A>GCA2646303513NEXNc.298+7A>G (n.298+7A>G)
c.106+7A>G (n.106+7A>G)
gnomAD v4
1g.77918047C=CA1146543292NEXNc.298+9C= (n.298+9C=)
c.106+9C= (n.106+9C=)
1g.77918047C>GCA2646303514NEXNc.298+9C>G (n.298+9C>G)
c.106+9C>G (n.106+9C>G)
gnomAD v4
1g.77918047C>TCA918607NEXNc.298+9C>T (n.298+9C>T)
c.106+9C>T (n.106+9C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918048T>CCA142151NEXNc.298+10T>C (n.298+10T>C)
c.106+10T>C (n.106+10T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918048T>GCA918608NEXNc.298+10T>G (n.298+10T>G)
c.106+10T>G (n.106+10T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918048T=CA1144228861NEXNc.298+10T= (n.298+10T=)
c.106+10T= (n.106+10T=)
1g.77918050G>ACA739076992NEXNc.298+12G>A (n.298+12G>A)
c.106+12G>A (n.106+12G>A)
dbSNP
1g.77918050G=CA1177620276NEXNc.298+12G= (n.298+12G=)
c.106+12G= (n.106+12G=)
1g.77918052G>TCA2744231270NEXNc.298+14G>T (n.298+14G>T)
c.106+14G>T (n.106+14G>T)
1g.77918054G=CA1177620277NEXNc.298+16G= (n.298+16G=)
c.106+16G= (n.106+16G=)
1g.77918054G>TCA1177620278NEXNc.298+16G>T (n.298+16G>T)
c.106+16G>T (n.106+16G>T)
dbSNP
1g.77918055G>ACA918609NEXNc.298+17G>A (n.298+17G>A)
c.106+17G>A (n.106+17G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918055G=CA1148877831NEXNc.298+17G= (n.298+17G=)
c.106+17G= (n.106+17G=)
1g.77918060T>CCA2646303515NEXNc.298+22T>C (n.298+22T>C)
c.106+22T>C (n.106+22T>C)
dbSNP gnomAD v4
1g.77918062G>TCA2600639598NEXNc.298+24G>T (n.298+24G>T)
c.106+24G>T (n.106+24G>T)
dbSNP gnomAD v3 gnomAD v4
1g.77918062_77918067delinsGTAAATCA1177620279NEXNc.298+24_298+29delinsGTAAAT (n.298+24_298+29delinsGTAAAT)
c.106+24_106+29delinsGTAAAT (n.106+24_106+29delinsGTAAAT)
1g.77918063T>ACA2600639599NEXNc.298+25T>A (n.298+25T>A)
c.106+25T>A (n.106+25T>A)
dbSNP gnomAD v3 gnomAD v4
1g.77918063T>CCA1177620281NEXNc.298+25T>C (n.298+25T>C)
c.106+25T>C (n.106+25T>C)
dbSNP
1g.77918063T=CA1177620280NEXNc.298+25T= (n.298+25T=)
c.106+25T= (n.106+25T=)
1g.77918069_77918073delCA1003481073NEXNc.298+31_298+35del (n.298+31_298+35del)
c.106+31_106+35del (n.106+31_106+35del)
dbSNP gnomAD v3 gnomAD v4
1g.77918066delCA2646303516NEXNc.298+28del (n.298+28del)
c.106+28del (n.106+28del)
gnomAD v4
1g.77918065A=CA1177620282NEXNc.298+27A= (n.298+27A=)
c.106+27A= (n.106+27A=)
1g.77918065A>CCA524230670NEXNc.298+27A>C (n.298+27A>C)
c.106+27A>C (n.106+27A>C)
dbSNP gnomAD v2 gnomAD v4
1g.77918066A=CA1177620283NEXNc.298+28A= (n.298+28A=)
c.106+28A= (n.106+28A=)
1g.77918066A>GCA1177620284NEXNc.298+28A>G (n.298+28A>G)
c.106+28A>G (n.106+28A>G)
dbSNP
1g.77918070A=CA1177620285NEXNc.298+32A= (n.298+32A=)
c.106+32A= (n.106+32A=)
1g.77918070A>TCA524230671NEXNc.298+32A>T (n.298+32A>T)
c.106+32A>T (n.106+32A>T)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched