Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108299837_108309100delCA915947621ATMc.*193_*827-1060del
c.5129_5763-1060del
n.1344_1978-1060del
n.533_1167-1060del
c.1085_1719-1060del
c.4964_5598-1060del
c.4085_4719-1060del
c.3821_4455-1060del
c.200_834-1060del
n.5729_6363-1060del
ClinVar
11g.108302884delCA16041417ATMc.*415del (p.=)
c.5351del (p.Asn1784ThrfsTer9)
n.1566del
n.755del
n.580del
c.1307del (p.Asn436ThrfsTer9)
c.5186del (p.Asn1729ThrfsTer9)
c.4307del (p.Asn1436ThrfsTer9)
c.4043del (p.Asn1348ThrfsTer9)
c.*9del (p.=)
c.422del (p.Asn141ThrfsTer9)
c.*32del (p.=)
n.5951del
ClinVar dbSNP
11g.108302884A>CCA382543261ATMc.*415A>C (p.=)
c.5351A>C (p.Asn1784Thr)
n.1566A>C
n.755A>C
n.580A>C
c.1307A>C (p.Asn436Thr)
c.5186A>C (p.Asn1729Thr)
c.4307A>C (p.Asn1436Thr)
c.4043A>C (p.Asn1348Thr)
c.*9A>C (p.=)
c.422A>C (p.Asn141Thr)
c.*32A>C (p.=)
n.5951A>C
11g.108302884A>GCA382543262ATMc.*415A>G (p.=)
c.5351A>G (p.Asn1784Ser)
n.1566A>G
n.755A>G
n.580A>G
c.1307A>G (p.Asn436Ser)
c.5186A>G (p.Asn1729Ser)
c.4307A>G (p.Asn1436Ser)
c.4043A>G (p.Asn1348Ser)
c.*9A>G (p.=)
c.422A>G (p.Asn141Ser)
c.*32A>G (p.=)
n.5951A>G
11g.108302884A>TCA382543266ATMc.*415A>T (p.=)
c.5351A>T (p.Asn1784Ile)
n.1566A>T
n.755A>T
n.580A>T
c.1307A>T (p.Asn436Ile)
c.5186A>T (p.Asn1729Ile)
c.4307A>T (p.Asn1436Ile)
c.4043A>T (p.Asn1348Ile)
c.*9A>T (p.=)
c.422A>T (p.Asn141Ile)
c.*32A>T (p.=)
n.5951A>T
11g.108302884_108302888delinsACCCTCA1998799714ATMc.*415_*419delinsACCCT (p.=)
c.5351_5355delinsACCCT (p.Asn1784=)
n.1566_1570delinsACCCT
n.755_759delinsACCCT
n.580_584delinsACCCT
c.1307_1311delinsACCCT (p.Asn436=)
c.5186_5190delinsACCCT (p.Asn1729=)
c.4307_4311delinsACCCT (p.Asn1436=)
c.4043_4047delinsACCCT (p.Asn1348=)
c.*9_*13delinsACCCT (p.=)
c.422_426delinsACCCT (p.Asn141=)
c.*32_*36delinsACCCT (p.=)
n.5951_5955delinsACCCT
11g.108302885C>ACA382543267ATMc.*416C>A (p.=)
c.5352C>A (p.Asn1784Lys)
n.1567C>A
n.756C>A
n.581C>A
c.1308C>A (p.Asn436Lys)
c.5187C>A (p.Asn1729Lys)
c.4308C>A (p.Asn1436Lys)
c.4044C>A (p.Asn1348Lys)
c.*10C>A (p.=)
c.423C>A (p.Asn141Lys)
c.*33C>A (p.=)
n.5952C>A
11g.108302885C=CA1998799721ATMc.*416C= (p.=)
c.5352C= (p.Asn1784=)
n.1567C=
n.756C=
n.581C=
c.1308C= (p.Asn436=)
c.5187C= (p.Asn1729=)
c.4308C= (p.Asn1436=)
c.4044C= (p.Asn1348=)
c.*10C= (p.=)
c.423C= (p.Asn141=)
c.*33C= (p.=)
n.5952C=
11g.108302885C>GCA382543268ATMc.*416C>G (p.=)
c.5352C>G (p.Asn1784Lys)
n.1567C>G
n.756C>G
n.581C>G
c.1308C>G (p.Asn436Lys)
c.5187C>G (p.Asn1729Lys)
c.4308C>G (p.Asn1436Lys)
c.4044C>G (p.Asn1348Lys)
c.*10C>G (p.=)
c.423C>G (p.Asn141Lys)
c.*33C>G (p.=)
n.5952C>G
11g.108302885C>TCA186379ATMc.*416C>T (p.=)
c.5352C>T (p.Asn1784=)
n.1567C>T
n.756C>T
n.581C>T
c.1308C>T (p.Asn436=)
c.5187C>T (p.Asn1729=)
c.4308C>T (p.Asn1436=)
c.4044C>T (p.Asn1348=)
c.*10C>T (p.=)
c.423C>T (p.Asn141=)
c.*33C>T (p.=)
n.5952C>T
ClinVar dbSNP ExAC gnomAD
11g.108302885_108302888delCA671413672ATMc.*416_*419del (p.=)
c.5352_5355del (p.Pro1785LeufsTer7)
n.1567_1570del
n.756_759del
n.581_584del
c.1308_1311del (p.Pro437LeufsTer7)
c.5187_5190del (p.Pro1730LeufsTer7)
c.4308_4311del (p.Pro1437LeufsTer7)
c.4044_4047del (p.Pro1349LeufsTer7)
c.*10_*13del (p.=)
c.423_426del (p.Pro142LeufsTer7)
c.*33_*36del (p.=)
n.5952_5955del
ClinVar dbSNP
11g.108302886C>ACA382543270ATMc.*417C>A (p.=)
c.5353C>A (p.Pro1785Thr)
n.1568C>A
n.757C>A
n.582C>A
c.1309C>A (p.Pro437Thr)
c.5188C>A (p.Pro1730Thr)
c.4309C>A (p.Pro1437Thr)
c.4045C>A (p.Pro1349Thr)
c.*11C>A (p.=)
c.424C>A (p.Pro142Thr)
c.*34C>A (p.=)
n.5953C>A
11g.108302886C=CA1998799728ATMc.*417C= (p.=)
c.5353C= (p.Pro1785=)
n.1568C=
n.757C=
n.582C=
c.1309C= (p.Pro437=)
c.5188C= (p.Pro1730=)
c.4309C= (p.Pro1437=)
c.4045C= (p.Pro1349=)
c.*11C= (p.=)
c.424C= (p.Pro142=)
c.*34C= (p.=)
n.5953C=
11g.108302886C>GCA286891ATMc.*417C>G (p.=)
c.5353C>G (p.Pro1785Ala)
n.1568C>G
n.757C>G
n.582C>G
c.1309C>G (p.Pro437Ala)
c.5188C>G (p.Pro1730Ala)
c.4309C>G (p.Pro1437Ala)
c.4045C>G (p.Pro1349Ala)
c.*11C>G (p.=)
c.424C>G (p.Pro142Ala)
c.*34C>G (p.=)
n.5953C>G
ClinVar dbSNP gnomAD
11g.108302886C>TCA382543276ATMc.*417C>T (p.=)
c.5353C>T (p.Pro1785Ser)
n.1568C>T
n.757C>T
n.582C>T
c.1309C>T (p.Pro437Ser)
c.5188C>T (p.Pro1730Ser)
c.4309C>T (p.Pro1437Ser)
c.4045C>T (p.Pro1349Ser)
c.*11C>T (p.=)
c.424C>T (p.Pro142Ser)
c.*34C>T (p.=)
n.5953C>T
COSMIC COSMIC
11g.108302887C>ACA382543281ATMc.*418C>A (p.=)
c.5354C>A (p.Pro1785His)
n.1569C>A
n.758C>A
n.583C>A
c.1310C>A (p.Pro437His)
c.5189C>A (p.Pro1730His)
c.4310C>A (p.Pro1437His)
c.4046C>A (p.Pro1349His)
c.*12C>A (p.=)
c.425C>A (p.Pro142His)
c.*35C>A (p.=)
n.5954C>A
ClinVar
11g.108302887C=CA1998799735ATMc.*418C= (p.=)
c.5354C= (p.Pro1785=)
n.1569C=
n.758C=
n.583C=
c.1310C= (p.Pro437=)
c.5189C= (p.Pro1730=)
c.4310C= (p.Pro1437=)
c.4046C= (p.Pro1349=)
c.*12C= (p.=)
c.425C= (p.Pro142=)
c.*35C= (p.=)
n.5954C=
11g.108302887C>GCA382543289ATMc.*418C>G (p.=)
c.5354C>G (p.Pro1785Arg)
n.1569C>G
n.758C>G
n.583C>G
c.1310C>G (p.Pro437Arg)
c.5189C>G (p.Pro1730Arg)
c.4310C>G (p.Pro1437Arg)
c.4046C>G (p.Pro1349Arg)
c.*12C>G (p.=)
c.425C>G (p.Pro142Arg)
c.*35C>G (p.=)
n.5954C>G
11g.108302887C>TCA382543285ATMc.*418C>T (p.=)
c.5354C>T (p.Pro1785Leu)
n.1569C>T
n.758C>T
n.583C>T
c.1310C>T (p.Pro437Leu)
c.5189C>T (p.Pro1730Leu)
c.4310C>T (p.Pro1437Leu)
c.4046C>T (p.Pro1349Leu)
c.*12C>T (p.=)
c.425C>T (p.Pro142Leu)
c.*35C>T (p.=)
n.5954C>T
11g.108302888T>ACA476674899ATMc.*419T>A (p.=)
c.5355T>A (p.Pro1785=)
n.1570T>A
n.759T>A
n.584T>A
c.1311T>A (p.Pro437=)
c.5190T>A (p.Pro1730=)
c.4311T>A (p.Pro1437=)
c.4047T>A (p.Pro1349=)
c.*13T>A (p.=)
c.426T>A (p.Pro142=)
c.*36T>A (p.=)
n.5955T>A
11g.108302888T>CCA476674900ATMc.*419T>C (p.=)
c.5355T>C (p.Pro1785=)
n.1570T>C
n.759T>C
n.584T>C
c.1311T>C (p.Pro437=)
c.5190T>C (p.Pro1730=)
c.4311T>C (p.Pro1437=)
c.4047T>C (p.Pro1349=)
c.*13T>C (p.=)
c.426T>C (p.Pro142=)
c.*36T>C (p.=)
n.5955T>C
11g.108302888T>GCA228388321ATMc.*419T>G (p.=)
c.5355T>G (p.Pro1785=)
n.1570T>G
n.759T>G
n.584T>G
c.1311T>G (p.Pro437=)
c.5190T>G (p.Pro1730=)
c.4311T>G (p.Pro1437=)
c.4047T>G (p.Pro1349=)
c.*13T>G (p.=)
c.426T>G (p.Pro142=)
c.*36T>G (p.=)
n.5955T>G
ClinVar dbSNP
11g.108302888T=CA1998799741ATMc.*419T= (p.=)
c.5355T= (p.Pro1785=)
n.1570T=
n.759T=
n.584T=
c.1311T= (p.Pro437=)
c.5190T= (p.Pro1730=)
c.4311T= (p.Pro1437=)
c.4047T= (p.Pro1349=)
c.*13T= (p.=)
c.426T= (p.Pro142=)
c.*36T= (p.=)
n.5955T=
11g.108302889T>ACA382543290ATMc.*420T>A (p.=)
c.5356T>A (p.Phe1786Ile)
n.1571T>A
n.760T>A
n.585T>A
c.1312T>A (p.Phe438Ile)
c.5191T>A (p.Phe1731Ile)
c.4312T>A (p.Phe1438Ile)
c.4048T>A (p.Phe1350Ile)
c.*14T>A (p.=)
c.427T>A (p.Phe143Ile)
c.*37T>A (p.=)
n.5956T>A
11g.108302889T>CCA382543291ATMc.*420T>C (p.=)
c.5356T>C (p.Phe1786Leu)
n.1571T>C
n.760T>C
n.585T>C
c.1312T>C (p.Phe438Leu)
c.5191T>C (p.Phe1731Leu)
c.4312T>C (p.Phe1438Leu)
c.4048T>C (p.Phe1350Leu)
c.*14T>C (p.=)
c.427T>C (p.Phe143Leu)
c.*37T>C (p.=)
n.5956T>C
11g.108302889T>GCA382543292ATMc.*420T>G (p.=)
c.5356T>G (p.Phe1786Val)
n.1571T>G
n.760T>G
n.585T>G
c.1312T>G (p.Phe438Val)
c.5191T>G (p.Phe1731Val)
c.4312T>G (p.Phe1438Val)
c.4048T>G (p.Phe1350Val)
c.*14T>G (p.=)
c.427T>G (p.Phe143Val)
c.*37T>G (p.=)
n.5956T>G
11g.108302890T>ACA382543296ATMc.*421T>A (p.=)
c.5357T>A (p.Phe1786Tyr)
n.1572T>A
n.761T>A
n.586T>A
c.1313T>A (p.Phe438Tyr)
c.5192T>A (p.Phe1731Tyr)
c.4313T>A (p.Phe1438Tyr)
c.4049T>A (p.Phe1350Tyr)
c.*15T>A (p.=)
c.428T>A (p.Phe143Tyr)
c.*38T>A (p.=)
n.5957T>A
11g.108302890T>CCA382543300ATMc.*421T>C (p.=)
c.5357T>C (p.Phe1786Ser)
n.1572T>C
n.761T>C
n.586T>C
c.1313T>C (p.Phe438Ser)
c.5192T>C (p.Phe1731Ser)
c.4313T>C (p.Phe1438Ser)
c.4049T>C (p.Phe1350Ser)
c.*15T>C (p.=)
c.428T>C (p.Phe143Ser)
c.*38T>C (p.=)
n.5957T>C
ClinVar
11g.108302890T>GCA382543301ATMc.*421T>G (p.=)
c.5357T>G (p.Phe1786Cys)
n.1572T>G
n.761T>G
n.586T>G
c.1313T>G (p.Phe438Cys)
c.5192T>G (p.Phe1731Cys)
c.4313T>G (p.Phe1438Cys)
c.4049T>G (p.Phe1350Cys)
c.*15T>G (p.=)
c.428T>G (p.Phe143Cys)
c.*38T>G (p.=)
n.5957T>G
11g.108302890T=CA1998799745ATMc.*421T= (p.=)
c.5357T= (p.Phe1786=)
n.1572T=
n.761T=
n.586T=
c.1313T= (p.Phe438=)
c.5192T= (p.Phe1731=)
c.4313T= (p.Phe1438=)
c.4049T= (p.Phe1350=)
c.*15T= (p.=)
c.428T= (p.Phe143=)
c.*38T= (p.=)
n.5957T=
11g.108302891T>ACA382543311ATMc.*422T>A (p.=)
c.5358T>A (p.Phe1786Leu)
n.1573T>A
n.762T>A
n.587T>A
c.1314T>A (p.Phe438Leu)
c.5193T>A (p.Phe1731Leu)
c.4314T>A (p.Phe1438Leu)
c.4050T>A (p.Phe1350Leu)
c.*16T>A (p.=)
c.429T>A (p.Phe143Leu)
c.*39T>A (p.=)
n.5958T>A
ClinVar
11g.108302891T>CCA10579178ATMc.*422T>C (p.=)
c.5358T>C (p.Phe1786=)
n.1573T>C
n.762T>C
n.587T>C
c.1314T>C (p.Phe438=)
c.5193T>C (p.Phe1731=)
c.4314T>C (p.Phe1438=)
c.4050T>C (p.Phe1350=)
c.*16T>C (p.=)
c.429T>C (p.Phe143=)
c.*39T>C (p.=)
n.5958T>C
ClinVar dbSNP
11g.108302891T>GCA382543316ATMc.*422T>G (p.=)
c.5358T>G (p.Phe1786Leu)
n.1573T>G
n.762T>G
n.587T>G
c.1314T>G (p.Phe438Leu)
c.5193T>G (p.Phe1731Leu)
c.4314T>G (p.Phe1438Leu)
c.4050T>G (p.Phe1350Leu)
c.*16T>G (p.=)
c.429T>G (p.Phe143Leu)
c.*39T>G (p.=)
n.5958T>G
11g.108302891T=CA1998799753ATMc.*422T= (p.=)
c.5358T= (p.Phe1786=)
n.1573T=
n.762T=
n.587T=
c.1314T= (p.Phe438=)
c.5193T= (p.Phe1731=)
c.4314T= (p.Phe1438=)
c.4050T= (p.Phe1350=)
c.*16T= (p.=)
c.429T= (p.Phe143=)
c.*39T= (p.=)
n.5958T=
11g.108302892G>ACA382543320ATMc.*423G>A (p.=)
c.5359G>A (p.Glu1787Lys)
n.1574G>A
n.763G>A
n.588G>A
c.1315G>A (p.Glu439Lys)
c.5194G>A (p.Glu1732Lys)
c.4315G>A (p.Glu1439Lys)
c.4051G>A (p.Glu1351Lys)
c.*17G>A (p.=)
c.430G>A (p.Glu144Lys)
c.*40G>A (p.=)
n.5959G>A
11g.108302892G>CCA382543322ATMc.*423G>C (p.=)
c.5359G>C (p.Glu1787Gln)
n.1574G>C
n.763G>C
n.588G>C
c.1315G>C (p.Glu439Gln)
c.5194G>C (p.Glu1732Gln)
c.4315G>C (p.Glu1439Gln)
c.4051G>C (p.Glu1351Gln)
c.*17G>C (p.=)
c.430G>C (p.Glu144Gln)
c.*40G>C (p.=)
n.5959G>C
11g.108302892G>TCA382543317ATMc.*423G>T (p.=)
c.5359G>T (p.Glu1787Ter)
n.1574G>T
n.763G>T
n.588G>T
c.1315G>T (p.Glu439Ter)
c.5194G>T (p.Glu1732Ter)
c.4315G>T (p.Glu1439Ter)
c.4051G>T (p.Glu1351Ter)
c.*17G>T (p.=)
c.430G>T (p.Glu144Ter)
c.*40G>T (p.=)
n.5959G>T
11g.108302893A>CCA382543333ATMc.*424A>C (p.=)
c.5360A>C (p.Glu1787Ala)
n.1575A>C
n.764A>C
n.589A>C
c.1316A>C (p.Glu439Ala)
c.5195A>C (p.Glu1732Ala)
c.4316A>C (p.Glu1439Ala)
c.4052A>C (p.Glu1351Ala)
c.*18A>C (p.=)
c.431A>C (p.Glu144Ala)
c.*41A>C (p.=)
n.5960A>C
11g.108302893A>GCA382543336ATMc.*424A>G (p.=)
c.5360A>G (p.Glu1787Gly)
n.1575A>G
n.764A>G
n.589A>G
c.1316A>G (p.Glu439Gly)
c.5195A>G (p.Glu1732Gly)
c.4316A>G (p.Glu1439Gly)
c.4052A>G (p.Glu1351Gly)
c.*18A>G (p.=)
c.431A>G (p.Glu144Gly)
c.*41A>G (p.=)
n.5960A>G
11g.108302893A>TCA382543338ATMc.*424A>T (p.=)
c.5360A>T (p.Glu1787Val)
n.1575A>T
n.764A>T
n.589A>T
c.1316A>T (p.Glu439Val)
c.5195A>T (p.Glu1732Val)
c.4316A>T (p.Glu1439Val)
c.4052A>T (p.Glu1351Val)
c.*18A>T (p.=)
c.431A>T (p.Glu144Val)
c.*41A>T (p.=)
n.5960A>T
11g.108302894A>CCA382543344ATMc.*425A>C (p.=)
c.5361A>C (p.Glu1787Asp)
n.1576A>C
n.765A>C
n.590A>C
c.1317A>C (p.Glu439Asp)
c.5196A>C (p.Glu1732Asp)
c.4317A>C (p.Glu1439Asp)
c.4053A>C (p.Glu1351Asp)
c.*19A>C (p.=)
c.432A>C (p.Glu144Asp)
c.*42A>C (p.=)
n.5961A>C
11g.108302894A>GCA476674905ATMc.*425A>G (p.=)
c.5361A>G (p.Glu1787=)
n.1576A>G
n.765A>G
n.590A>G
c.1317A>G (p.Glu439=)
c.5196A>G (p.Glu1732=)
c.4317A>G (p.Glu1439=)
c.4053A>G (p.Glu1351=)
c.*19A>G (p.=)
c.432A>G (p.Glu144=)
c.*42A>G (p.=)
n.5961A>G
11g.108302894A>TCA382543352ATMc.*425A>T (p.=)
c.5361A>T (p.Glu1787Asp)
n.1576A>T
n.765A>T
n.590A>T
c.1317A>T (p.Glu439Asp)
c.5196A>T (p.Glu1732Asp)
c.4317A>T (p.Glu1439Asp)
c.4053A>T (p.Glu1351Asp)
c.*19A>T (p.=)
c.432A>T (p.Glu144Asp)
c.*42A>T (p.=)
n.5961A>T
11g.108302895G>ACA298269ATMc.*426G>A (p.=)
c.5362G>A (p.Gly1788Ser)
n.1577G>A
n.766G>A
n.591G>A
c.1318G>A (p.Gly440Ser)
c.5197G>A (p.Gly1733Ser)
c.4318G>A (p.Gly1440Ser)
c.4054G>A (p.Gly1352Ser)
c.*20G>A (p.=)
c.433G>A (p.Gly145Ser)
c.*43G>A (p.=)
n.5962G>A
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
11g.108302895G>CCA382543363ATMc.*426G>C (p.=)
c.5362G>C (p.Gly1788Arg)
n.1577G>C
n.766G>C
n.591G>C
c.1318G>C (p.Gly440Arg)
c.5197G>C (p.Gly1733Arg)
c.4318G>C (p.Gly1440Arg)
c.4054G>C (p.Gly1352Arg)
c.*20G>C (p.=)
c.433G>C (p.Gly145Arg)
c.*43G>C (p.=)
n.5962G>C
11g.108302895G=CA1998799764ATMc.*426G= (p.=)
c.5362G= (p.Gly1788=)
n.1577G=
n.766G=
n.591G=
c.1318G= (p.Gly440=)
c.5197G= (p.Gly1733=)
c.4318G= (p.Gly1440=)
c.4054G= (p.Gly1352=)
c.*20G= (p.=)
c.433G= (p.Gly145=)
c.*43G= (p.=)
n.5962G=
11g.108302895G>TCA382543358ATMc.*426G>T (p.=)
c.5362G>T (p.Gly1788Cys)
n.1577G>T
n.766G>T
n.591G>T
c.1318G>T (p.Gly440Cys)
c.5197G>T (p.Gly1733Cys)
c.4318G>T (p.Gly1440Cys)
c.4054G>T (p.Gly1352Cys)
c.*20G>T (p.=)
c.433G>T (p.Gly145Cys)
c.*43G>T (p.=)
n.5962G>T
11g.108302896G>ACA382543366ATMc.*427G>A (p.=)
c.5363G>A (p.Gly1788Asp)
n.1578G>A
n.767G>A
n.592G>A
c.1319G>A (p.Gly440Asp)
c.5198G>A (p.Gly1733Asp)
c.4319G>A (p.Gly1440Asp)
c.4055G>A (p.Gly1352Asp)
c.*21G>A (p.=)
c.434G>A (p.Gly145Asp)
c.*44G>A (p.=)
n.5963G>A
11g.108302896G>CCA382543367ATMc.*427G>C (p.=)
c.5363G>C (p.Gly1788Ala)
n.1578G>C
n.767G>C
n.592G>C
c.1319G>C (p.Gly440Ala)
c.5198G>C (p.Gly1733Ala)
c.4319G>C (p.Gly1440Ala)
c.4055G>C (p.Gly1352Ala)
c.*21G>C (p.=)
c.434G>C (p.Gly145Ala)
c.*44G>C (p.=)
n.5963G>C
11g.108302896G>TCA382543368ATMc.*427G>T (p.=)
c.5363G>T (p.Gly1788Val)
n.1578G>T
n.767G>T
n.592G>T
c.1319G>T (p.Gly440Val)
c.5198G>T (p.Gly1733Val)
c.4319G>T (p.Gly1440Val)
c.4055G>T (p.Gly1352Val)
c.*21G>T (p.=)
c.434G>T (p.Gly145Val)
c.*44G>T (p.=)
n.5963G>T

Number of alleles fetched