Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54625148_54625538delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATTCA1785187759RP1c.1266_1656delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser422=)
c.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (n.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT)
c.1287_1677delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser429=)
8g.54625149_54625538delinsACA658821501RP1c.1267_1656delinsA (p.Ala423AsnfsTer11)
c.787+2861_787+3250delinsA (n.787+2861_787+3250delinsA)
c.1288_1677delinsA (p.Ala430AsnfsTer11)
 ClinVar dbSNP
8g.54625507_54625511delCA2695209258RP1c.1625_1629del (p.Ser542CysfsTer20)
c.787+3219_787+3223del (n.787+3219_787+3223del)
c.1646_1650del (p.Ser549CysfsTer20)
8g.54625504A>CCA370991015RP1c.1622A>C (p.Lys541Thr)
c.787+3216A>C (n.787+3216A>C)
c.1643A>C (p.Lys548Thr)
8g.54625504A>GCA370991016RP1c.1622A>G (p.Lys541Arg)
c.787+3216A>G (n.787+3216A>G)
c.1643A>G (p.Lys548Arg)
8g.54625504A>TCA370991018RP1c.1622A>T (p.Lys541Met)
c.787+3216A>T (n.787+3216A>T)
c.1643A>T (p.Lys548Met)
8g.54625505G>ACA461098277RP1c.1623G>A (p.Lys541=)
c.787+3217G>A (n.787+3217G>A)
c.1644G>A (p.Lys548=)
8g.54625505G>CCA370991020RP1c.1623G>C (p.Lys541Asn)
c.787+3217G>C (n.787+3217G>C)
c.1644G>C (p.Lys548Asn)
8g.54625505G>TCA370991021RP1c.1623G>T (p.Lys541Asn)
c.787+3217G>T (n.787+3217G>T)
c.1644G>T (p.Lys548Asn)
8g.54625506T>ACA370991026RP1c.1624T>A (p.Ser542Thr)
c.787+3218T>A (n.787+3218T>A)
c.1645T>A (p.Ser549Thr)
8g.54625506T>CCA370991023RP1c.1624T>C (p.Ser542Pro)
c.787+3218T>C (n.787+3218T>C)
c.1645T>C (p.Ser549Pro)
8g.54625506T>GCA370991025RP1c.1624T>G (p.Ser542Ala)
c.787+3218T>G (n.787+3218T>G)
c.1645T>G (p.Ser549Ala)
8g.54625507C>ACA370991028RP1c.1625C>A (p.Ser542Ter)
c.787+3219C>A (n.787+3219C>A)
c.1646C>A (p.Ser549Ter)
 gnomAD v4
8g.54625507C=CA1785187914RP1c.1625C= (p.Ser542=)
c.787+3219C= (n.787+3219C=)
c.1646C= (p.Ser549=)
8g.54625507C>GCA4751409RP1c.1625C>G (p.Ser542Ter)
c.787+3219C>G (n.787+3219C>G)
c.1646C>G (p.Ser549Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625507C>TCA370991030RP1c.1625C>T (p.Ser542Leu)
c.787+3219C>T (n.787+3219C>T)
c.1646C>T (p.Ser549Leu)
 ClinVar dbSNP
8g.54625508A>CCA461098286RP1c.1626A>C (p.Ser542=)
c.787+3220A>C (n.787+3220A>C)
c.1647A>C (p.Ser549=)
8g.54625508A>GCA461098287RP1c.1626A>G (p.Ser542=)
c.787+3220A>G (n.787+3220A>G)
c.1647A>G (p.Ser549=)
8g.54625508A>TCA461098288RP1c.1626A>T (p.Ser542=)
c.787+3220A>T (n.787+3220A>T)
c.1647A>T (p.Ser549=)
8g.54625509A=CA1785187915RP1c.1627A= (p.Ser543=)
c.787+3221A= (n.787+3221A=)
c.1648A= (p.Ser550=)
8g.54625509A>CCA370991032RP1c.1627A>C (p.Ser543Arg)
c.787+3221A>C (n.787+3221A>C)
c.1648A>C (p.Ser550Arg)
 COSMIC
8g.54625509A>GCA370991034RP1c.1627A>G (p.Ser543Gly)
c.787+3221A>G (n.787+3221A>G)
c.1648A>G (p.Ser550Gly)
 dbSNP gnomAD v4
8g.54625509A>TCA370991035RP1c.1627A>T (p.Ser543Cys)
c.787+3221A>T (n.787+3221A>T)
c.1648A>T (p.Ser550Cys)
8g.54625510G>ACA370991037RP1c.1628G>A (p.Ser543Asn)
c.787+3222G>A (n.787+3222G>A)
c.1649G>A (p.Ser550Asn)
8g.54625510G>CCA370991038RP1c.1628G>C (p.Ser543Thr)
c.787+3222G>C (n.787+3222G>C)
c.1649G>C (p.Ser550Thr)
8g.54625510G>TCA370991039RP1c.1628G>T (p.Ser543Ile)
c.787+3222G>T (n.787+3222G>T)
c.1649G>T (p.Ser550Ile)
8g.54625511T>ACA370991041RP1c.1629T>A (p.Ser543Arg)
c.787+3223T>A (n.787+3223T>A)
c.1650T>A (p.Ser550Arg)
8g.54625511T>CCA4751410RP1c.1629T>C (p.Ser543=)
c.787+3223T>C (n.787+3223T>C)
c.1650T>C (p.Ser550=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625511T>GCA370991044RP1c.1629T>G (p.Ser543Arg)
c.787+3223T>G (n.787+3223T>G)
c.1650T>G (p.Ser550Arg)
8g.54625511T=CA1785187916RP1c.1629T= (p.Ser543=)
c.787+3223T= (n.787+3223T=)
c.1650T= (p.Ser550=)
8g.54625512G>ACA370991045RP1c.1630G>A (p.Ala544Thr)
c.787+3224G>A (n.787+3224G>A)
c.1651G>A (p.Ala551Thr)
8g.54625512G>CCA370991048RP1c.1630G>C (p.Ala544Pro)
c.787+3224G>C (n.787+3224G>C)
c.1651G>C (p.Ala551Pro)
8g.54625512G>TCA370991046RP1c.1630G>T (p.Ala544Ser)
c.787+3224G>T (n.787+3224G>T)
c.1651G>T (p.Ala551Ser)
 gnomAD v4
8g.54625513C>ACA370991050RP1c.1631C>A (p.Ala544Glu)
c.787+3225C>A (n.787+3225C>A)
c.1652C>A (p.Ala551Glu)
8g.54625513C>GCA370991053RP1c.1631C>G (p.Ala544Gly)
c.787+3225C>G (n.787+3225C>G)
c.1652C>G (p.Ala551Gly)
8g.54625513C>TCA370991051RP1c.1631C>T (p.Ala544Val)
c.787+3225C>T (n.787+3225C>T)
c.1652C>T (p.Ala551Val)
8g.54625514A=CA1785187917RP1c.1632A= (p.Ala544=)
c.787+3226A= (n.787+3226A=)
c.1653A= (p.Ala551=)
8g.54625514A>CCA461098294RP1c.1632A>C (p.Ala544=)
c.787+3226A>C (n.787+3226A>C)
c.1653A>C (p.Ala551=)
 gnomAD v4
8g.54625514A>GCA4751411RP1c.1632A>G (p.Ala544=)
c.787+3226A>G (n.787+3226A>G)
c.1653A>G (p.Ala551=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625514A>TCA461098295RP1c.1632A>T (p.Ala544=)
c.787+3226A>T (n.787+3226A>T)
c.1653A>T (p.Ala551=)
8g.54625515A=CA1785187918RP1c.1633A= (p.Ile545=)
c.787+3227A= (n.787+3227A=)
c.1654A= (p.Ile552=)
8g.54625515A>CCA370991054RP1c.1633A>C (p.Ile545Leu)
c.787+3227A>C (n.787+3227A>C)
c.1654A>C (p.Ile552Leu)
8g.54625515A>GCA4751412RP1c.1633A>G (p.Ile545Val)
c.787+3227A>G (n.787+3227A>G)
c.1654A>G (p.Ile552Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625515A>TCA177236819RP1c.1633A>T (p.Ile545Leu)
c.787+3227A>T (n.787+3227A>T)
c.1654A>T (p.Ile552Leu)
 dbSNP gnomAD v4
8g.54625516T>ACA370991057RP1c.1634T>A (p.Ile545Lys)
c.787+3228T>A (n.787+3228T>A)
c.1655T>A (p.Ile552Lys)
8g.54625516T>CCA370991058RP1c.1634T>C (p.Ile545Thr)
c.787+3228T>C (n.787+3228T>C)
c.1655T>C (p.Ile552Thr)
8g.54625516T>GCA370991059RP1c.1634T>G (p.Ile545Arg)
c.787+3228T>G (n.787+3228T>G)
c.1655T>G (p.Ile552Arg)
8g.54625517A>CCA461098300RP1c.1635A>C (p.Ile545=)
c.787+3229A>C (n.787+3229A>C)
c.1656A>C (p.Ile552=)
8g.54625517A>GCA370991060RP1c.1635A>G (p.Ile545Met)
c.787+3229A>G (n.787+3229A>G)
c.1656A>G (p.Ile552Met)
8g.54625517A>TCA461098301RP1c.1635A>T (p.Ile545=)
c.787+3229A>T (n.787+3229A>T)
c.1656A>T (p.Ile552=)
8g.54625518A>CCA370991061RP1c.1636A>C (p.Ser546Arg)
c.787+3230A>C (n.787+3230A>C)
c.1657A>C (p.Ser553Arg)
8g.54625518A>GCA370991062RP1c.1636A>G (p.Ser546Gly)
c.787+3230A>G (n.787+3230A>G)
c.1657A>G (p.Ser553Gly)
8g.54625518A>TCA370991063RP1c.1636A>T (p.Ser546Cys)
c.787+3230A>T (n.787+3230A>T)
c.1657A>T (p.Ser553Cys)
8g.54625519G>ACA370991068RP1c.1637G>A (p.Ser546Asn)
c.787+3231G>A (n.787+3231G>A)
c.1658G>A (p.Ser553Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.54625519G>CCA370991067RP1c.1637G>C (p.Ser546Thr)
c.787+3231G>C (n.787+3231G>C)
c.1658G>C (p.Ser553Thr)
8g.54625519G=CA1785187919RP1c.1637G= (p.Ser546=)
c.787+3231G= (n.787+3231G=)
c.1658G= (p.Ser553=)
8g.54625519G>TCA370991065RP1c.1637G>T (p.Ser546Ile)
c.787+3231G>T (n.787+3231G>T)
c.1658G>T (p.Ser553Ile)
8g.54625520T>ACA370991070RP1c.1638T>A (p.Ser546Arg)
c.787+3232T>A (n.787+3232T>A)
c.1659T>A (p.Ser553Arg)
8g.54625520T>CCA461098306RP1c.1638T>C (p.Ser546=)
c.787+3232T>C (n.787+3232T>C)
c.1659T>C (p.Ser553=)
8g.54625520T>GCA370991072RP1c.1638T>G (p.Ser546Arg)
c.787+3232T>G (n.787+3232T>G)
c.1659T>G (p.Ser553Arg)
8g.54625521G>ACA370991074RP1c.1639G>A (p.Ala547Thr)
c.787+3233G>A (n.787+3233G>A)
c.1660G>A (p.Ala554Thr)
 gnomAD v4
8g.54625521G>CCA370991075RP1c.1639G>C (p.Ala547Pro)
c.787+3233G>C (n.787+3233G>C)
c.1660G>C (p.Ala554Pro)
8g.54625521G=CA1785187920RP1c.1639G= (p.Ala547=)
c.787+3233G= (n.787+3233G=)
c.1660G= (p.Ala554=)
8g.54625521G>TCA4751413RP1c.1639G>T (p.Ala547Ser)
c.787+3233G>T (n.787+3233G>T)
c.1660G>T (p.Ala554Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625522C>ACA370991077RP1c.1640C>A (p.Ala547Asp)
c.787+3234C>A (n.787+3234C>A)
c.1661C>A (p.Ala554Asp)
8g.54625522C>GCA370991079RP1c.1640C>G (p.Ala547Gly)
c.787+3234C>G (n.787+3234C>G)
c.1661C>G (p.Ala554Gly)
8g.54625522C>TCA370991080RP1c.1640C>T (p.Ala547Val)
c.787+3234C>T (n.787+3234C>T)
c.1661C>T (p.Ala554Val)
8g.54625523T>ACA461098307RP1c.1641T>A (p.Ala547=)
c.787+3235T>A (n.787+3235T>A)
c.1662T>A (p.Ala554=)
8g.54625523T>CCA461098308RP1c.1641T>C (p.Ala547=)
c.787+3235T>C (n.787+3235T>C)
c.1662T>C (p.Ala554=)
 gnomAD v4
8g.54625523T>GCA4751414RP1c.1641T>G (p.Ala547=)
c.787+3235T>G (n.787+3235T>G)
c.1662T>G (p.Ala554=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625523T=CA1785187921RP1c.1641T= (p.Ala547=)
c.787+3235T= (n.787+3235T=)
c.1662T= (p.Ala554=)
8g.54625524G>ACA370991083RP1c.1642G>A (p.Gly548Ser)
c.787+3236G>A (n.787+3236G>A)
c.1663G>A (p.Gly555Ser)
8g.54625524G>CCA370991084RP1c.1642G>C (p.Gly548Arg)
c.787+3236G>C (n.787+3236G>C)
c.1663G>C (p.Gly555Arg)
8g.54625524G>TCA370991086RP1c.1642G>T (p.Gly548Cys)
c.787+3236G>T (n.787+3236G>T)
c.1663G>T (p.Gly555Cys)
8g.54625525G>ACA370991091RP1c.1643G>A (p.Gly548Asp)
c.787+3237G>A (n.787+3237G>A)
c.1664G>A (p.Gly555Asp)
 dbSNP
8g.54625525G>CCA370991089RP1c.1643G>C (p.Gly548Ala)
c.787+3237G>C (n.787+3237G>C)
c.1664G>C (p.Gly555Ala)
8g.54625525G=CA1785187922RP1c.1643G= (p.Gly548=)
c.787+3237G= (n.787+3237G=)
c.1664G= (p.Gly555=)
8g.54625525G>TCA370991088RP1c.1643G>T (p.Gly548Val)
c.787+3237G>T (n.787+3237G>T)
c.1664G>T (p.Gly555Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54625526T>ACA461098311RP1c.1644T>A (p.Gly548=)
c.787+3238T>A (n.787+3238T>A)
c.1665T>A (p.Gly555=)
8g.54625526T>CCA461098313RP1c.1644T>C (p.Gly548=)
c.787+3238T>C (n.787+3238T>C)
c.1665T>C (p.Gly555=)
8g.54625526T>GCA461098312RP1c.1644T>G (p.Gly548=)
c.787+3238T>G (n.787+3238T>G)
c.1665T>G (p.Gly555=)
8g.54625527G>ACA370991093RP1c.1645G>A (p.Val549Ile)
c.787+3239G>A (n.787+3239G>A)
c.1666G>A (p.Val556Ile)
8g.54625527G>CCA370991095RP1c.1645G>C (p.Val549Leu)
c.787+3239G>C (n.787+3239G>C)
c.1666G>C (p.Val556Leu)
8g.54625527G=CA1785187923RP1c.1645G= (p.Val549=)
c.787+3239G= (n.787+3239G=)
c.1666G= (p.Val556=)
8g.54625527G>TCA370991097RP1c.1645G>T (p.Val549Phe)
c.787+3239G>T (n.787+3239G>T)
c.1666G>T (p.Val556Phe)
 ClinVar dbSNP
8g.54625528T>ACA370991099RP1c.1646T>A (p.Val549Asp)
c.787+3240T>A (n.787+3240T>A)
c.1667T>A (p.Val556Asp)
8g.54625528T>CCA370991100RP1c.1646T>C (p.Val549Ala)
c.787+3240T>C (n.787+3240T>C)
c.1667T>C (p.Val556Ala)
 dbSNP COSMIC
8g.54625528T>GCA370991101RP1c.1646T>G (p.Val549Gly)
c.787+3240T>G (n.787+3240T>G)
c.1667T>G (p.Val556Gly)
8g.54625528T=CA1785187924RP1c.1646T= (p.Val549=)
c.787+3240T= (n.787+3240T=)
c.1667T= (p.Val556=)
8g.54625529T>ACA461098314RP1c.1647T>A (p.Val549=)
c.787+3241T>A (n.787+3241T>A)
c.1668T>A (p.Val556=)
8g.54625529T>CCA461098315RP1c.1647T>C (p.Val549=)
c.787+3241T>C (n.787+3241T>C)
c.1668T>C (p.Val556=)
8g.54625529T>GCA177236826RP1c.1647T>G (p.Val549=)
c.787+3241T>G (n.787+3241T>G)
c.1668T>G (p.Val556=)
 ClinVar dbSNP
8g.54625529T=CA1785187925RP1c.1647T= (p.Val549=)
c.787+3241T= (n.787+3241T=)
c.1668T= (p.Val556=)
8g.54625531_54625532delCA2739290086RP1c.1649_1650del (p.Ile550ArgfsTer13)
c.787+3243_787+3244del (n.787+3243_787+3244del)
c.1670_1671del (p.Ile557ArgfsTer13)
8g.54625530A>CCA370991103RP1c.1648A>C (p.Ile550Leu)
c.787+3242A>C (n.787+3242A>C)
c.1669A>C (p.Ile557Leu)
8g.54625530A>GCA370991104RP1c.1648A>G (p.Ile550Val)
c.787+3242A>G (n.787+3242A>G)
c.1669A>G (p.Ile557Val)
 gnomAD v4
8g.54625530A>TCA370991106RP1c.1648A>T (p.Ile550Leu)
c.787+3242A>T (n.787+3242A>T)
c.1669A>T (p.Ile557Leu)
8g.54625531T>ACA370991108RP1c.1649T>A (p.Ile550Lys)
c.787+3243T>A (n.787+3243T>A)
c.1670T>A (p.Ile557Lys)
8g.54625531T>CCA370991109RP1c.1649T>C (p.Ile550Thr)
c.787+3243T>C (n.787+3243T>C)
c.1670T>C (p.Ile557Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.54625531T>GCA370991111RP1c.1649T>G (p.Ile550Arg)
c.787+3243T>G (n.787+3243T>G)
c.1670T>G (p.Ile557Arg)
8g.54625531T=CA1785187926RP1c.1649T= (p.Ile550=)
c.787+3243T= (n.787+3243T=)
c.1670T= (p.Ile557=)
8g.54625532A>CCA461098316RP1c.1650A>C (p.Ile550=)
c.787+3244A>C (n.787+3244A>C)
c.1671A>C (p.Ile557=)
8g.54625532A>GCA370991113RP1c.1650A>G (p.Ile550Met)
c.787+3244A>G (n.787+3244A>G)
c.1671A>G (p.Ile557Met)
8g.54625532A>TCA461098317RP1c.1650A>T (p.Ile550=)
c.787+3244A>T (n.787+3244A>T)
c.1671A>T (p.Ile557=)
8g.54625533G>ACA370991117RP1c.1651G>A (p.Glu551Lys)
c.787+3245G>A (n.787+3245G>A)
c.1672G>A (p.Glu558Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54625533G>CCA370991115RP1c.1651G>C (p.Glu551Gln)
c.787+3245G>C (n.787+3245G>C)
c.1672G>C (p.Glu558Gln)
 ClinVar
8g.54625533G=CA1785187927RP1c.1651G= (p.Glu551=)
c.787+3245G= (n.787+3245G=)
c.1672G= (p.Glu558=)
8g.54625533G>TCA370991116RP1c.1651G>T (p.Glu551Ter)
c.787+3245G>T (n.787+3245G>T)
c.1672G>T (p.Glu558Ter)
 COSMIC
8g.54625534A=CA1785187928RP1c.1652A= (p.Glu551=)
c.787+3246A= (n.787+3246A=)
c.1673A= (p.Glu558=)
8g.54625534A>CCA370991119RP1c.1652A>C (p.Glu551Ala)
c.787+3246A>C (n.787+3246A>C)
c.1673A>C (p.Glu558Ala)
 dbSNP gnomAD v2
8g.54625534A>GCA370991121RP1c.1652A>G (p.Glu551Gly)
c.787+3246A>G (n.787+3246A>G)
c.1673A>G (p.Glu558Gly)
8g.54625534A>TCA370991123RP1c.1652A>T (p.Glu551Val)
c.787+3246A>T (n.787+3246A>T)
c.1673A>T (p.Glu558Val)
8g.54625535A>CCA370991124RP1c.1653A>C (p.Glu551Asp)
c.787+3247A>C (n.787+3247A>C)
c.1674A>C (p.Glu558Asp)
8g.54625535A>GCA461098319RP1c.1653A>G (p.Glu551=)
c.787+3247A>G (n.787+3247A>G)
c.1674A>G (p.Glu558=)
8g.54625535A>TCA370991125RP1c.1653A>T (p.Glu551Asp)
c.787+3247A>T (n.787+3247A>T)
c.1674A>T (p.Glu558Asp)
8g.54625536A=CA1785187929RP1c.1654A= (p.Ile552=)
c.787+3248A= (n.787+3248A=)
c.1675A= (p.Ile559=)
8g.54625536A>CCA370991126RP1c.1654A>C (p.Ile552Leu)
c.787+3248A>C (n.787+3248A>C)
c.1675A>C (p.Ile559Leu)
8g.54625536A>GCA370991127RP1c.1654A>G (p.Ile552Val)
c.787+3248A>G (n.787+3248A>G)
c.1675A>G (p.Ile559Val)
8g.54625536A>TCA4751415RP1c.1654A>T (p.Ile552Phe)
c.787+3248A>T (n.787+3248A>T)
c.1675A>T (p.Ile559Phe)
 dbSNP ExAC gnomAD v2
8g.54625537T>ACA370991128RP1c.1655T>A (p.Ile552Asn)
c.787+3249T>A (n.787+3249T>A)
c.1676T>A (p.Ile559Asn)
8g.54625537T>CCA370991129RP1c.1655T>C (p.Ile552Thr)
c.787+3249T>C (n.787+3249T>C)
c.1676T>C (p.Ile559Thr)
 dbSNP
8g.54625537T>GCA370991130RP1c.1655T>G (p.Ile552Ser)
c.787+3249T>G (n.787+3249T>G)
c.1676T>G (p.Ile559Ser)
8g.54625537T=CA1785187930RP1c.1655T= (p.Ile552=)
c.787+3249T= (n.787+3249T=)
c.1676T= (p.Ile559=)
8g.54625538T>ACA461098321RP1c.1656T>A (p.Ile552=)
c.787+3250T>A (n.787+3250T>A)
c.1677T>A (p.Ile559=)
8g.54625538T>CCA461098322RP1c.1656T>C (p.Ile552=)
c.787+3250T>C (n.787+3250T>C)
c.1677T>C (p.Ile559=)
 gnomAD v4
8g.54625538T>GCA370991131RP1c.1656T>G (p.Ile552Met)
c.787+3250T>G (n.787+3250T>G)
c.1677T>G (p.Ile559Met)
8g.54625538_54625548delCA2780386998RP1c.1656_1666del (p.Thr553AspfsTer7)
c.787+3250_787+3260del (n.787+3250_787+3260del)
c.1677_1687del (p.Thr560AspfsTer7)
8g.54625539A=CA1785187931RP1c.1657A= (p.Thr553=)
c.787+3251A= (n.787+3251A=)
c.1678A= (p.Thr560=)
8g.54625539A>CCA370991134RP1c.1657A>C (p.Thr553Pro)
c.787+3251A>C (n.787+3251A>C)
c.1678A>C (p.Thr560Pro)
8g.54625539A>GCA370991132RP1c.1657A>G (p.Thr553Ala)
c.787+3251A>G (n.787+3251A>G)
c.1678A>G (p.Thr560Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625539A>TCA370991133RP1c.1657A>T (p.Thr553Ser)
c.787+3251A>T (n.787+3251A>T)
c.1678A>T (p.Thr560Ser)
8g.54625540C>ACA370991135RP1c.1658C>A (p.Thr553Lys)
c.787+3252C>A (n.787+3252C>A)
c.1679C>A (p.Thr560Lys)
8g.54625540C=CA1785187932RP1c.1658C= (p.Thr553=)
c.787+3252C= (n.787+3252C=)
c.1679C= (p.Thr560=)
8g.54625540C>GCA370991138RP1c.1658C>G (p.Thr553Arg)
c.787+3252C>G (n.787+3252C>G)
c.1679C>G (p.Thr560Arg)
 gnomAD v4
8g.54625540C>TCA370991137RP1c.1658C>T (p.Thr553Ile)
c.787+3252C>T (n.787+3252C>T)
c.1679C>T (p.Thr560Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625541A=CA1785187933RP1c.1659A= (p.Thr553=)
c.787+3253A= (n.787+3253A=)
c.1680A= (p.Thr560=)
8g.54625541A>CCA461098325RP1c.1659A>C (p.Thr553=)
c.787+3253A>C (n.787+3253A>C)
c.1680A>C (p.Thr560=)
8g.54625541A>GCA461098324RP1c.1659A>G (p.Thr553=)
c.787+3253A>G (n.787+3253A>G)
c.1680A>G (p.Thr560=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625541A>TCA461098326RP1c.1659A>T (p.Thr553=)
c.787+3253A>T (n.787+3253A>T)
c.1680A>T (p.Thr560=)
8g.54625542A=CA1785187934RP1c.1660A= (p.Ser554=)
c.787+3254A= (n.787+3254A=)
c.1681A= (p.Ser561=)
8g.54625542A>CCA370991139RP1c.1660A>C (p.Ser554Arg)
c.787+3254A>C (n.787+3254A>C)
c.1681A>C (p.Ser561Arg)
8g.54625542A>GCA4751416RP1c.1660A>G (p.Ser554Gly)
c.787+3254A>G (n.787+3254A>G)
c.1681A>G (p.Ser561Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625542A>TCA370991141RP1c.1660A>T (p.Ser554Cys)
c.787+3254A>T (n.787+3254A>T)
c.1681A>T (p.Ser561Cys)
8g.54625543G>ACA370991143RP1c.1661G>A (p.Ser554Asn)
c.787+3255G>A (n.787+3255G>A)
c.1682G>A (p.Ser561Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625543G>CCA370991144RP1c.1661G>C (p.Ser554Thr)
c.787+3255G>C (n.787+3255G>C)
c.1682G>C (p.Ser561Thr)
 dbSNP
8g.54625543G=CA1785187935RP1c.1661G= (p.Ser554=)
c.787+3255G= (n.787+3255G=)
c.1682G= (p.Ser561=)
8g.54625543G>TCA370991146RP1c.1661G>T (p.Ser554Ile)
c.787+3255G>T (n.787+3255G>T)
c.1682G>T (p.Ser561Ile)
8g.54625544T>ACA370991147RP1c.1662T>A (p.Ser554Arg)
c.787+3256T>A (n.787+3256T>A)
c.1683T>A (p.Ser561Arg)
8g.54625544T>CCA461098327RP1c.1662T>C (p.Ser554=)
c.787+3256T>C (n.787+3256T>C)
c.1683T>C (p.Ser561=)
8g.54625544T>GCA370991149RP1c.1662T>G (p.Ser554Arg)
c.787+3256T>G (n.787+3256T>G)
c.1683T>G (p.Ser561Arg)
8g.54625545C>ACA370991150RP1c.1663C>A (p.Gln555Lys)
c.787+3257C>A (n.787+3257C>A)
c.1684C>A (p.Gln562Lys)
 gnomAD v4
8g.54625545C>GCA370991152RP1c.1663C>G (p.Gln555Glu)
c.787+3257C>G (n.787+3257C>G)
c.1684C>G (p.Gln562Glu)
8g.54625545C>TCA370991153RP1c.1663C>T (p.Gln555Ter)
c.787+3257C>T (n.787+3257C>T)
c.1684C>T (p.Gln562Ter)
 gnomAD v4
8g.54625546A>CCA370991158RP1c.1664A>C (p.Gln555Pro)
c.787+3258A>C (n.787+3258A>C)
c.1685A>C (p.Gln562Pro)
 gnomAD v4
8g.54625546A>GCA370991156RP1c.1664A>G (p.Gln555Arg)
c.787+3258A>G (n.787+3258A>G)
c.1685A>G (p.Gln562Arg)
8g.54625546A>TCA370991155RP1c.1664A>T (p.Gln555Leu)
c.787+3258A>T (n.787+3258A>T)
c.1685A>T (p.Gln562Leu)
8g.54625547G>ACA461098328RP1c.1665G>A (p.Gln555=)
c.787+3259G>A (n.787+3259G>A)
c.1686G>A (p.Gln562=)
 COSMIC
8g.54625547G>CCA370991159RP1c.1665G>C (p.Gln555His)
c.787+3259G>C (n.787+3259G>C)
c.1686G>C (p.Gln562His)
8g.54625547G>TCA370991160RP1c.1665G>T (p.Gln555His)
c.787+3259G>T (n.787+3259G>T)
c.1686G>T (p.Gln562His)
8g.54625548A>CCA370991162RP1c.1666A>C (p.Lys556Gln)
c.787+3260A>C (n.787+3260A>C)
c.1687A>C (p.Lys563Gln)
8g.54625548A>GCA370991163RP1c.1666A>G (p.Lys556Glu)
c.787+3260A>G (n.787+3260A>G)
c.1687A>G (p.Lys563Glu)
8g.54625548A>TCA370991165RP1c.1666A>T (p.Lys556Ter)
c.787+3260A>T (n.787+3260A>T)
c.1687A>T (p.Lys563Ter)
8g.54625549A>CCA370991167RP1c.1667A>C (p.Lys556Thr)
c.787+3261A>C (n.787+3261A>C)
c.1688A>C (p.Lys563Thr)
8g.54625549A>GCA370991168RP1c.1667A>G (p.Lys556Arg)
c.787+3261A>G (n.787+3261A>G)
c.1688A>G (p.Lys563Arg)
8g.54625549A>TCA370991169RP1c.1667A>T (p.Lys556Met)
c.787+3261A>T (n.787+3261A>T)
c.1688A>T (p.Lys563Met)
8g.54625550G>ACA461098332RP1c.1668G>A (p.Lys556=)
c.787+3262G>A (n.787+3262G>A)
c.1689G>A (p.Lys563=)
 gnomAD v4
8g.54625550G>CCA370991171RP1c.1668G>C (p.Lys556Asn)
c.787+3262G>C (n.787+3262G>C)
c.1689G>C (p.Lys563Asn)
8g.54625550G=CA1785187936RP1c.1668G= (p.Lys556=)
c.787+3262G= (n.787+3262G=)
c.1689G= (p.Lys563=)
8g.54625550G>TCA370991173RP1c.1668G>T (p.Lys556Asn)
c.787+3262G>T (n.787+3262G>T)
c.1689G>T (p.Lys563Asn)
 dbSNP
8g.54625551A>CCA370991174RP1c.1669A>C (p.Met557Leu)
c.787+3263A>C (n.787+3263A>C)
c.1690A>C (p.Met564Leu)
8g.54625551A>GCA370991176RP1c.1669A>G (p.Met557Val)
c.787+3263A>G (n.787+3263A>G)
c.1690A>G (p.Met564Val)
 ClinVar
8g.54625551A>TCA370991177RP1c.1669A>T (p.Met557Leu)
c.787+3263A>T (n.787+3263A>T)
c.1690A>T (p.Met564Leu)
8g.54625552T>ACA370991182RP1c.1670T>A (p.Met557Lys)
c.787+3264T>A (n.787+3264T>A)
c.1691T>A (p.Met564Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.54625552T>CCA4751417RP1c.1670T>C (p.Met557Thr)
c.787+3264T>C (n.787+3264T>C)
c.1691T>C (p.Met564Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625552T>GCA370991179RP1c.1670T>G (p.Met557Arg)
c.787+3264T>G (n.787+3264T>G)
c.1691T>G (p.Met564Arg)
8g.54625552T=CA1785187937RP1c.1670T= (p.Met557=)
c.787+3264T= (n.787+3264T=)
c.1691T= (p.Met564=)
8g.54625553G>ACA370991187RP1c.1671G>A (p.Met557Ile)
c.787+3265G>A (n.787+3265G>A)
c.1692G>A (p.Met564Ile)
8g.54625553G>CCA370991184RP1c.1671G>C (p.Met557Ile)
c.787+3265G>C (n.787+3265G>C)
c.1692G>C (p.Met564Ile)
8g.54625553G>TCA370991185RP1c.1671G>T (p.Met557Ile)
c.787+3265G>T (n.787+3265G>T)
c.1692G>T (p.Met564Ile)
8g.54625554T>ACA370991189RP1c.1672T>A (p.Leu558Ile)
c.787+3266T>A (n.787+3266T>A)
c.1693T>A (p.Leu565Ile)
8g.54625554T>CCA461098334RP1c.1672T>C (p.Leu558=)
c.787+3266T>C (n.787+3266T>C)
c.1693T>C (p.Leu565=)
 gnomAD v4
8g.54625554T>GCA370991190RP1c.1672T>G (p.Leu558Val)
c.787+3266T>G (n.787+3266T>G)
c.1693T>G (p.Leu565Val)
 gnomAD v4
8g.54625555T>ACA370991191RP1c.1673T>A (p.Leu558Ter)
c.787+3267T>A (n.787+3267T>A)
c.1694T>A (p.Leu565Ter)
8g.54625555T>CCA370991193RP1c.1673T>C (p.Leu558Ser)
c.787+3267T>C (n.787+3267T>C)
c.1694T>C (p.Leu565Ser)
8g.54625555T>GCA370991195RP1c.1673T>G (p.Leu558Ter)
c.787+3267T>G (n.787+3267T>G)
c.1694T>G (p.Leu565Ter)
8g.54625556A>CCA370991197RP1c.1674A>C (p.Leu558Phe)
c.787+3268A>C (n.787+3268A>C)
c.1695A>C (p.Leu565Phe)
8g.54625556A>GCA461098335RP1c.1674A>G (p.Leu558=)
c.787+3268A>G (n.787+3268A>G)
c.1695A>G (p.Leu565=)
8g.54625556A>TCA370991199RP1c.1674A>T (p.Leu558Phe)
c.787+3268A>T (n.787+3268A>T)
c.1695A>T (p.Leu565Phe)
8g.54625557G>ACA4751418RP1c.1675G>A (p.Glu559Lys)
c.787+3269G>A (n.787+3269G>A)
c.1696G>A (p.Glu566Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625557G>CCA370991201RP1c.1675G>C (p.Glu559Gln)
c.787+3269G>C (n.787+3269G>C)
c.1696G>C (p.Glu566Gln)
 dbSNP gnomAD v3 gnomAD v4
8g.54625557G=CA1785187938RP1c.1675G= (p.Glu559=)
c.787+3269G= (n.787+3269G=)
c.1696G= (p.Glu566=)
8g.54625557G>TCA370991202RP1c.1675G>T (p.Glu559Ter)
c.787+3269G>T (n.787+3269G>T)
c.1696G>T (p.Glu566Ter)
8g.54625558A>CCA370991206RP1c.1676A>C (p.Glu559Ala)
c.787+3270A>C (n.787+3270A>C)
c.1697A>C (p.Glu566Ala)
8g.54625558A>GCA370991208RP1c.1676A>G (p.Glu559Gly)
c.787+3270A>G (n.787+3270A>G)
c.1697A>G (p.Glu566Gly)
8g.54625558A>TCA370991205RP1c.1676A>T (p.Glu559Val)
c.787+3270A>T (n.787+3270A>T)
c.1697A>T (p.Glu566Val)
8g.54625559G>ACA461098337RP1c.1677G>A (p.Glu559=)
c.787+3271G>A (n.787+3271G>A)
c.1698G>A (p.Glu566=)
8g.54625559G>CCA370991209RP1c.1677G>C (p.Glu559Asp)
c.787+3271G>C (n.787+3271G>C)
c.1698G>C (p.Glu566Asp)
8g.54625559G>TCA370991211RP1c.1677G>T (p.Glu559Asp)
c.787+3271G>T (n.787+3271G>T)
c.1698G>T (p.Glu566Asp)
 COSMIC
8g.54625560A=CA1785187939RP1c.1678A= (p.Met560=)
c.787+3272A= (n.787+3272A=)
c.1699A= (p.Met567=)
8g.54625560A>CCA370991213RP1c.1678A>C (p.Met560Leu)
c.787+3272A>C (n.787+3272A>C)
c.1699A>C (p.Met567Leu)
8g.54625560A>GCA370991215RP1c.1678A>G (p.Met560Val)
c.787+3272A>G (n.787+3272A>G)
c.1699A>G (p.Met567Val)
8g.54625560A>TCA370991216RP1c.1678A>T (p.Met560Leu)
c.787+3272A>T (n.787+3272A>T)
c.1699A>T (p.Met567Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625560_54625561insAGAAAGGTAGCTGATTACTATGCTTTAACTTCA1785187940RP1c.1678_1679insAGAAAGGTAGCTGATTACTATGCTTTAACTT (p.Met560LysfsTer5)
c.787+3272_787+3273insAGAAAGGTAGCTGATTACTATGCTTTAACTT (n.787+3272_787+3273insAGAAAGGTAGCTGATTACTATGCTTTAACTT)
c.1699_1700insAGAAAGGTAGCTGATTACTATGCTTTAACTT (p.Met567LysfsTer5)
 dbSNP
8g.54625561T>ACA370991221RP1c.1679T>A (p.Met560Lys)
c.787+3273T>A (n.787+3273T>A)
c.1700T>A (p.Met567Lys)
8g.54625561T>CCA370991218RP1c.1679T>C (p.Met560Thr)
c.787+3273T>C (n.787+3273T>C)
c.1700T>C (p.Met567Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.54625561T>GCA370991220RP1c.1679T>G (p.Met560Arg)
c.787+3273T>G (n.787+3273T>G)
c.1700T>G (p.Met567Arg)
8g.54625561T=CA1785187941RP1c.1679T= (p.Met560=)
c.787+3273T= (n.787+3273T=)
c.1700T= (p.Met567=)
8g.54625562G>ACA370991223RP1c.1680G>A (p.Met560Ile)
c.787+3274G>A (n.787+3274G>A)
c.1701G>A (p.Met567Ile)
 ClinVar gnomAD v4
8g.54625562G>CCA370991225RP1c.1680G>C (p.Met560Ile)
c.787+3274G>C (n.787+3274G>C)
c.1701G>C (p.Met567Ile)
8g.54625562G>TCA370991227RP1c.1680G>T (p.Met560Ile)
c.787+3274G>T (n.787+3274G>T)
c.1701G>T (p.Met567Ile)
8g.54625563T>ACA370991229RP1c.1681T>A (p.Ser561Thr)
c.787+3275T>A (n.787+3275T>A)
c.1702T>A (p.Ser568Thr)
 gnomAD v4
8g.54625563T>CCA370991230RP1c.1681T>C (p.Ser561Pro)
c.787+3275T>C (n.787+3275T>C)
c.1702T>C (p.Ser568Pro)
8g.54625563T>GCA370991231RP1c.1681T>G (p.Ser561Ala)
c.787+3275T>G (n.787+3275T>G)
c.1702T>G (p.Ser568Ala)
8g.54625564delCA2687301825RP1c.1682del (p.Ser561TyrfsTer20)
c.787+3276del (n.787+3276del)
c.1703del (p.Ser568TyrfsTer20)
 gnomAD v4
8g.54625564C>ACA370991235RP1c.1682C>A (p.Ser561Ter)
c.787+3276C>A (n.787+3276C>A)
c.1703C>A (p.Ser568Ter)
8g.54625564C>GCA370991237RP1c.1682C>G (p.Ser561Ter)
c.787+3276C>G (n.787+3276C>G)
c.1703C>G (p.Ser568Ter)
8g.54625564C>TCA370991233RP1c.1682C>T (p.Ser561Leu)
c.787+3276C>T (n.787+3276C>T)
c.1703C>T (p.Ser568Leu)
 gnomAD v4
8g.54625565A=CA1785187942RP1c.1683A= (p.Ser561=)
c.787+3277A= (n.787+3277A=)
c.1704A= (p.Ser568=)
8g.54625565A>CCA461098341RP1c.1683A>C (p.Ser561=)
c.787+3277A>C (n.787+3277A>C)
c.1704A>C (p.Ser568=)
 dbSNP gnomAD v2 gnomAD v4
8g.54625565A>GCA461098342RP1c.1683A>G (p.Ser561=)
c.787+3277A>G (n.787+3277A>G)
c.1704A>G (p.Ser568=)
8g.54625565A>TCA461098344RP1c.1683A>T (p.Ser561=)
c.787+3277A>T (n.787+3277A>T)
c.1704A>T (p.Ser568=)
 dbSNP
8g.54625566C>ACA370991239RP1c.1684C>A (p.His562Asn)
c.787+3278C>A (n.787+3278C>A)
c.1705C>A (p.His569Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.54625566C=CA1785187943RP1c.1684C= (p.His562=)
c.787+3278C= (n.787+3278C=)
c.1705C= (p.His569=)
8g.54625566C>GCA370991241RP1c.1684C>G (p.His562Asp)
c.787+3278C>G (n.787+3278C>G)
c.1705C>G (p.His569Asp)
 gnomAD v4
8g.54625566C>TCA370991240RP1c.1684C>T (p.His562Tyr)
c.787+3278C>T (n.787+3278C>T)
c.1705C>T (p.His569Tyr)
 dbSNP gnomAD v4
8g.54625567A>CCA370991242RP1c.1685A>C (p.His562Pro)
c.787+3279A>C (n.787+3279A>C)
c.1706A>C (p.His569Pro)
8g.54625567A>GCA370991243RP1c.1685A>G (p.His562Arg)
c.787+3279A>G (n.787+3279A>G)
c.1706A>G (p.His569Arg)
8g.54625567A>TCA370991245RP1c.1685A>T (p.His562Leu)
c.787+3279A>T (n.787+3279A>T)
c.1706A>T (p.His569Leu)
8g.54625572_54625574dupCA1785187944RP1c.1690_1692dup (p.Asn564_Gly565insAsn)
c.787+3284_787+3286dup (n.787+3284_787+3286dup)
c.1711_1713dup (p.Asn571_Gly572insAsn)
 dbSNP
8g.54625568T>ACA370991246RP1c.1686T>A (p.His562Gln)
c.787+3280T>A (n.787+3280T>A)
c.1707T>A (p.His569Gln)
 gnomAD v4
8g.54625568T>CCA461098347RP1c.1686T>C (p.His562=)
c.787+3280T>C (n.787+3280T>C)
c.1707T>C (p.His569=)
8g.54625568T>GCA370991248RP1c.1686T>G (p.His562Gln)
c.787+3280T>G (n.787+3280T>G)
c.1707T>G (p.His569Gln)
8g.54625569A>CCA370991250RP1c.1687A>C (p.Asn563His)
c.787+3281A>C (n.787+3281A>C)
c.1708A>C (p.Asn570His)
8g.54625569A>GCA370991251RP1c.1687A>G (p.Asn563Asp)
c.787+3281A>G (n.787+3281A>G)
c.1708A>G (p.Asn570Asp)
8g.54625569A>TCA370991252RP1c.1687A>T (p.Asn563Tyr)
c.787+3281A>T (n.787+3281A>T)
c.1708A>T (p.Asn570Tyr)
8g.54625570A>CCA370991253RP1c.1688A>C (p.Asn563Thr)
c.787+3282A>C (n.787+3282A>C)
c.1709A>C (p.Asn570Thr)
8g.54625570A>GCA370991254RP1c.1688A>G (p.Asn563Ser)
c.787+3282A>G (n.787+3282A>G)
c.1709A>G (p.Asn570Ser)
 gnomAD v4
8g.54625570A>TCA370991256RP1c.1688A>T (p.Asn563Ile)
c.787+3282A>T (n.787+3282A>T)
c.1709A>T (p.Asn570Ile)
8g.54625571T>ACA370991259RP1c.1689T>A (p.Asn563Lys)
c.787+3283T>A (n.787+3283T>A)
c.1710T>A (p.Asn570Lys)
8g.54625571T>CCA461098349RP1c.1689T>C (p.Asn563=)
c.787+3283T>C (n.787+3283T>C)
c.1710T>C (p.Asn570=)
8g.54625571T>GCA370991258RP1c.1689T>G (p.Asn563Lys)
c.787+3283T>G (n.787+3283T>G)
c.1710T>G (p.Asn570Lys)
8g.54625572A=CA1785187945RP1c.1690A= (p.Asn564=)
c.787+3284A= (n.787+3284A=)
c.1711A= (p.Asn571=)
8g.54625572A>CCA370991261RP1c.1690A>C (p.Asn564His)
c.787+3284A>C (n.787+3284A>C)
c.1711A>C (p.Asn571His)
8g.54625572A>GCA4751419RP1c.1690A>G (p.Asn564Asp)
c.787+3284A>G (n.787+3284A>G)
c.1711A>G (p.Asn571Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625572A>TCA370991263RP1c.1690A>T (p.Asn564Tyr)
c.787+3284A>T (n.787+3284A>T)
c.1711A>T (p.Asn571Tyr)
8g.54625573A=CA1785187946RP1c.1691A= (p.Asn564=)
c.787+3285A= (n.787+3285A=)
c.1712A= (p.Asn571=)
8g.54625573A>CCA370991265RP1c.1691A>C (p.Asn564Thr)
c.787+3285A>C (n.787+3285A>C)
c.1712A>C (p.Asn571Thr)
8g.54625573A>GCA4751420RP1c.1691A>G (p.Asn564Ser)
c.787+3285A>G (n.787+3285A>G)
c.1712A>G (p.Asn571Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625573A>TCA370991267RP1c.1691A>T (p.Asn564Ile)
c.787+3285A>T (n.787+3285A>T)
c.1712A>T (p.Asn571Ile)
8g.54625574T>ACA370991269RP1c.1692T>A (p.Asn564Lys)
c.787+3286T>A (n.787+3286T>A)
c.1713T>A (p.Asn571Lys)
8g.54625574T>CCA4751421RP1c.1692T>C (p.Asn564=)
c.787+3286T>C (n.787+3286T>C)
c.1713T>C (p.Asn571=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625574T>GCA370991271RP1c.1692T>G (p.Asn564Lys)
c.787+3286T>G (n.787+3286T>G)
c.1713T>G (p.Asn571Lys)
8g.54625574T=CA1785187947RP1c.1692T= (p.Asn564=)
c.787+3286T= (n.787+3286T=)
c.1713T= (p.Asn571=)
8g.54625575G>ACA370991273RP1c.1693G>A (p.Gly565Ser)
c.787+3287G>A (n.787+3287G>A)
c.1714G>A (p.Gly572Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.54625575G>CCA370991275RP1c.1693G>C (p.Gly565Arg)
c.787+3287G>C (n.787+3287G>C)
c.1714G>C (p.Gly572Arg)
8g.54625575G=CA1785187948RP1c.1693G= (p.Gly565=)
c.787+3287G= (n.787+3287G=)
c.1714G= (p.Gly572=)
8g.54625575G>TCA370991276RP1c.1693G>T (p.Gly565Cys)
c.787+3287G>T (n.787+3287G>T)
c.1714G>T (p.Gly572Cys)
 gnomAD v4
8g.54625576G>ACA4751422RP1c.1694G>A (p.Gly565Asp)
c.787+3288G>A (n.787+3288G>A)
c.1715G>A (p.Gly572Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625576G>CCA370991280RP1c.1694G>C (p.Gly565Ala)
c.787+3288G>C (n.787+3288G>C)
c.1715G>C (p.Gly572Ala)
8g.54625576G=CA1785187949RP1c.1694G= (p.Gly565=)
c.787+3288G= (n.787+3288G=)
c.1715G= (p.Gly572=)
8g.54625576G>TCA370991279RP1c.1694G>T (p.Gly565Val)
c.787+3288G>T (n.787+3288G>T)
c.1715G>T (p.Gly572Val)
8g.54625576_54625577delinsGTCA1785187950RP1c.1694_1695delinsGT (p.Gly565=)
c.787+3288_787+3289delinsGT (n.787+3288_787+3289delinsGT)
c.1715_1716delinsGT (p.Gly572=)
8g.54625577T>ACA461098354RP1c.1695T>A (p.Gly565=)
c.787+3289T>A (n.787+3289T>A)
c.1716T>A (p.Gly572=)
8g.54625577T>CCA461098353RP1c.1695T>C (p.Gly565=)
c.787+3289T>C (n.787+3289T>C)
c.1716T>C (p.Gly572=)
 dbSNP gnomAD v2 gnomAD v4
8g.54625577T>GCA461098352RP1c.1695T>G (p.Gly565=)
c.787+3289T>G (n.787+3289T>G)
c.1716T>G (p.Gly572=)
 COSMIC
8g.54625577T=CA1785187951RP1c.1695T= (p.Gly565=)
c.787+3289T= (n.787+3289T=)
c.1716T= (p.Gly572=)
8g.54625579delCA582204260RP1c.1697del (p.Leu566CysfsTer15)
c.787+3291del (n.787+3291del)
c.1718del (p.Leu573CysfsTer15)
 dbSNP gnomAD v2 gnomAD v4
8g.54625578T>ACA370991282RP1c.1696T>A (p.Leu566Met)
c.787+3290T>A (n.787+3290T>A)
c.1717T>A (p.Leu573Met)
8g.54625578T>CCA461098355RP1c.1696T>C (p.Leu566=)
c.787+3290T>C (n.787+3290T>C)
c.1717T>C (p.Leu573=)
8g.54625578T>GCA370991284RP1c.1696T>G (p.Leu566Val)
c.787+3290T>G (n.787+3290T>G)
c.1717T>G (p.Leu573Val)
 dbSNP gnomAD v3 gnomAD v4
8g.54625578T=CA1785187952RP1c.1696T= (p.Leu566=)
c.787+3290T= (n.787+3290T=)
c.1717T= (p.Leu573=)
8g.54625579T>ACA370991285RP1c.1697T>A (p.Leu566Ter)
c.787+3291T>A (n.787+3291T>A)
c.1718T>A (p.Leu573Ter)
8g.54625579T>CCA370991287RP1c.1697T>C (p.Leu566Ser)
c.787+3291T>C (n.787+3291T>C)
c.1718T>C (p.Leu573Ser)
8g.54625579T>GCA370991288RP1c.1697T>G (p.Leu566Trp)
c.787+3291T>G (n.787+3291T>G)
c.1718T>G (p.Leu573Trp)
8g.54625580G>ACA461098357RP1c.1698G>A (p.Leu566=)
c.787+3292G>A (n.787+3292G>A)
c.1719G>A (p.Leu573=)
8g.54625580G>CCA370991290RP1c.1698G>C (p.Leu566Phe)
c.787+3292G>C (n.787+3292G>C)
c.1719G>C (p.Leu573Phe)
8g.54625580G=CA1785187953RP1c.1698G= (p.Leu566=)
c.787+3292G= (n.787+3292G=)
c.1719G= (p.Leu573=)
8g.54625580G>TCA370991292RP1c.1698G>T (p.Leu566Phe)
c.787+3292G>T (n.787+3292G>T)
c.1719G>T (p.Leu573Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.54625581C>ACA370991293RP1c.1699C>A (p.Pro567Thr)
c.787+3293C>A (n.787+3293C>A)
c.1720C>A (p.Pro574Thr)
8g.54625581C=CA1785187954RP1c.1699C= (p.Pro567=)
c.787+3293C= (n.787+3293C=)
c.1720C= (p.Pro574=)
8g.54625581C>GCA370991295RP1c.1699C>G (p.Pro567Ala)
c.787+3293C>G (n.787+3293C>G)
c.1720C>G (p.Pro574Ala)
8g.54625581C>TCA370991297RP1c.1699C>T (p.Pro567Ser)
c.787+3293C>T (n.787+3293C>T)
c.1720C>T (p.Pro574Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625582C>ACA370991299RP1c.1700C>A (p.Pro567Gln)
c.787+3294C>A (n.787+3294C>A)
c.1721C>A (p.Pro574Gln)
8g.54625582C=CA1785187956RP1c.1700C= (p.Pro567=)
c.787+3294C= (n.787+3294C=)
c.1721C= (p.Pro574=)
8g.54625582C>GCA370991300RP1c.1700C>G (p.Pro567Arg)
c.787+3294C>G (n.787+3294C>G)
c.1721C>G (p.Pro574Arg)
8g.54625582C>TCA370991302RP1c.1700C>T (p.Pro567Leu)
c.787+3294C>T (n.787+3294C>T)
c.1721C>T (p.Pro574Leu)
 dbSNP
8g.54625582_54625583delinsCACA1785187955RP1c.1700_1701delinsCA (p.Pro567=)
c.787+3294_787+3295delinsCA (n.787+3294_787+3295delinsCA)
c.1721_1722delinsCA (p.Pro574=)
8g.54625583delCA918265016RP1c.1701del (p.Ser568GlnfsTer13)
c.787+3295del (n.787+3295del)
c.1722del (p.Ser575GlnfsTer13)
 dbSNP gnomAD v4
8g.54625583A=CA1785187957RP1c.1701A= (p.Pro567=)
c.787+3295A= (n.787+3295A=)
c.1722A= (p.Pro574=)
8g.54625583A>CCA461098358RP1c.1701A>C (p.Pro567=)
c.787+3295A>C (n.787+3295A>C)
c.1722A>C (p.Pro574=)
8g.54625583A>GCA461098361RP1c.1701A>G (p.Pro567=)
c.787+3295A>G (n.787+3295A>G)
c.1722A>G (p.Pro574=)
 dbSNP gnomAD v2 gnomAD v4
8g.54625583A>TCA461098359RP1c.1701A>T (p.Pro567=)
c.787+3295A>T (n.787+3295A>T)
c.1722A>T (p.Pro574=)
8g.54625584delCA2536497448RP1c.1702del (p.Ser568GlnfsTer13)
c.787+3296del (n.787+3296del)
c.1723del (p.Ser575GlnfsTer13)
8g.54625584T>ACA370991307RP1c.1702T>A (p.Ser568Thr)
c.787+3296T>A (n.787+3296T>A)
c.1723T>A (p.Ser575Thr)
8g.54625584T>CCA370991306RP1c.1702T>C (p.Ser568Pro)
c.787+3296T>C (n.787+3296T>C)
c.1723T>C (p.Ser575Pro)
8g.54625584T>GCA370991304RP1c.1702T>G (p.Ser568Ala)
c.787+3296T>G (n.787+3296T>G)
c.1723T>G (p.Ser575Ala)
8g.54625585C>ACA370991308RP1c.1703C>A (p.Ser568Ter)
c.787+3297C>A (n.787+3297C>A)
c.1724C>A (p.Ser575Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625585C=CA1785187958RP1c.1703C= (p.Ser568=)
c.787+3297C= (n.787+3297C=)
c.1724C= (p.Ser575=)
8g.54625585C>GCA370991309RP1c.1703C>G (p.Ser568Ter)
c.787+3297C>G (n.787+3297C>G)
c.1724C>G (p.Ser575Ter)
8g.54625585C>TCA370991311RP1c.1703C>T (p.Ser568Leu)
c.787+3297C>T (n.787+3297C>T)
c.1724C>T (p.Ser575Leu)
8g.54625586A=CA1785187959RP1c.1704A= (p.Ser568=)
c.787+3298A= (n.787+3298A=)
c.1725A= (p.Ser575=)
8g.54625586A>CCA461098362RP1c.1704A>C (p.Ser568=)
c.787+3298A>C (n.787+3298A>C)
c.1725A>C (p.Ser575=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625586A>GCA461098363RP1c.1704A>G (p.Ser568=)
c.787+3298A>G (n.787+3298A>G)
c.1725A>G (p.Ser575=)
 dbSNP gnomAD v2 gnomAD v4
8g.54625586A>TCA461098364RP1c.1704A>T (p.Ser568=)
c.787+3298A>T (n.787+3298A>T)
c.1725A>T (p.Ser575=)
8g.54625586_54625587insGCA2533104747RP1c.1704_1705insG (p.Thr569AspfsTer5)
c.787+3298_787+3299insG (n.787+3298_787+3299insG)
c.1725_1726insG (p.Thr576AspfsTer5)
8g.54625587A=CA1785187960RP1c.1705A= (p.Thr569=)
c.787+3299A= (n.787+3299A=)
c.1726A= (p.Thr576=)
8g.54625587A>CCA370991312RP1c.1705A>C (p.Thr569Pro)
c.787+3299A>C (n.787+3299A>C)
c.1726A>C (p.Thr576Pro)
8g.54625587A>GCA370991314RP1c.1705A>G (p.Thr569Ala)
c.787+3299A>G (n.787+3299A>G)
c.1726A>G (p.Thr576Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625587A>TCA370991315RP1c.1705A>T (p.Thr569Ser)
c.787+3299A>T (n.787+3299A>T)
c.1726A>T (p.Thr576Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54625588C>ACA370991317RP1c.1706C>A (p.Thr569Asn)
c.787+3300C>A (n.787+3300C>A)
c.1727C>A (p.Thr576Asn)
8g.54625588C=CA1785187961RP1c.1706C= (p.Thr569=)
c.787+3300C= (n.787+3300C=)
c.1727C= (p.Thr576=)
8g.54625588C>GCA370991318RP1c.1706C>G (p.Thr569Ser)
c.787+3300C>G (n.787+3300C>G)
c.1727C>G (p.Thr576Ser)
 dbSNP gnomAD v4
8g.54625588C>TCA177236840RP1c.1706C>T (p.Thr569Ile)
c.787+3300C>T (n.787+3300C>T)
c.1727C>T (p.Thr576Ile)
 ClinVar dbSNP gnomAD v4
8g.54625589T>ACA461098366RP1c.1707T>A (p.Thr569=)
c.787+3301T>A (n.787+3301T>A)
c.1728T>A (p.Thr576=)
8g.54625589T>CCA461098369RP1c.1707T>C (p.Thr569=)
c.787+3301T>C (n.787+3301T>C)
c.1728T>C (p.Thr576=)
 COSMIC
8g.54625589T>GCA461098368RP1c.1707T>G (p.Thr569=)
c.787+3301T>G (n.787+3301T>G)
c.1728T>G (p.Thr576=)
8g.54625590A=CA1785187962RP1c.1708A= (p.Ile570=)
c.787+3302A= (n.787+3302A=)
c.1729A= (p.Ile577=)
8g.54625590A>CCA370991321RP1c.1708A>C (p.Ile570Leu)
c.787+3302A>C (n.787+3302A>C)
c.1729A>C (p.Ile577Leu)
 gnomAD v4
8g.54625590A>GCA370991322RP1c.1708A>G (p.Ile570Val)
c.787+3302A>G (n.787+3302A>G)
c.1729A>G (p.Ile577Val)
 dbSNP gnomAD v4
8g.54625590A>TCA370991323RP1c.1708A>T (p.Ile570Leu)
c.787+3302A>T (n.787+3302A>T)
c.1729A>T (p.Ile577Leu)
8g.54625591T>ACA370991324RP1c.1709T>A (p.Ile570Lys)
c.787+3303T>A (n.787+3303T>A)
c.1730T>A (p.Ile577Lys)
8g.54625591T>CCA370991327RP1c.1709T>C (p.Ile570Thr)
c.787+3303T>C (n.787+3303T>C)
c.1730T>C (p.Ile577Thr)
8g.54625591T>GCA370991325RP1c.1709T>G (p.Ile570Arg)
c.787+3303T>G (n.787+3303T>G)
c.1730T>G (p.Ile577Arg)
8g.54625592A=CA1785187963RP1c.1710A= (p.Ile570=)
c.787+3304A= (n.787+3304A=)
c.1731A= (p.Ile577=)
8g.54625592A>CCA461098371RP1c.1710A>C (p.Ile570=)
c.787+3304A>C (n.787+3304A>C)
c.1731A>C (p.Ile577=)
8g.54625592A>GCA370991329RP1c.1710A>G (p.Ile570Met)
c.787+3304A>G (n.787+3304A>G)
c.1731A>G (p.Ile577Met)
 dbSNP gnomAD v4
8g.54625592A>TCA461098372RP1c.1710A>T (p.Ile570=)
c.787+3304A>T (n.787+3304A>T)
c.1731A>T (p.Ile577=)
8g.54625593T>ACA370991333RP1c.1711T>A (p.Ser571Thr)
c.787+3305T>A (n.787+3305T>A)
c.1732T>A (p.Ser578Thr)
8g.54625593T>CCA370991330RP1c.1711T>C (p.Ser571Pro)
c.787+3305T>C (n.787+3305T>C)
c.1732T>C (p.Ser578Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.54625593T>GCA370991331RP1c.1711T>G (p.Ser571Ala)
c.787+3305T>G (n.787+3305T>G)
c.1732T>G (p.Ser578Ala)
8g.54625593T=CA1785187964RP1c.1711T= (p.Ser571=)
c.787+3305T= (n.787+3305T=)
c.1732T= (p.Ser578=)
8g.54625594C>ACA370991335RP1c.1712C>A (p.Ser571Ter)
c.787+3306C>A (n.787+3306C>A)
c.1733C>A (p.Ser578Ter)
8g.54625594C>GCA370991337RP1c.1712C>G (p.Ser571Ter)
c.787+3306C>G (n.787+3306C>G)
c.1733C>G (p.Ser578Ter)
8g.54625594C>TCA370991338RP1c.1712C>T (p.Ser571Leu)
c.787+3306C>T (n.787+3306C>T)
c.1733C>T (p.Ser578Leu)
 COSMIC
8g.54625595A>CCA461098376RP1c.1713A>C (p.Ser571=)
c.787+3307A>C (n.787+3307A>C)
c.1734A>C (p.Ser578=)
8g.54625595A>GCA461098377RP1c.1713A>G (p.Ser571=)
c.787+3307A>G (n.787+3307A>G)
c.1734A>G (p.Ser578=)
8g.54625595A>TCA461098378RP1c.1713A>T (p.Ser571=)
c.787+3307A>T (n.787+3307A>T)
c.1734A>T (p.Ser578=)
8g.54625596A>CCA370991340RP1c.1714A>C (p.Asn572His)
c.787+3308A>C (n.787+3308A>C)
c.1735A>C (p.Asn579His)
8g.54625596A>GCA370991341RP1c.1714A>G (p.Asn572Asp)
c.787+3308A>G (n.787+3308A>G)
c.1735A>G (p.Asn579Asp)
8g.54625596A>TCA370991343RP1c.1714A>T (p.Asn572Tyr)
c.787+3308A>T (n.787+3308A>T)
c.1735A>T (p.Asn579Tyr)
8g.54625597A=CA1785187965RP1c.1715A= (p.Asn572=)
c.787+3309A= (n.787+3309A=)
c.1736A= (p.Asn579=)
8g.54625597A>CCA370991345RP1c.1715A>C (p.Asn572Thr)
c.787+3309A>C (n.787+3309A>C)
c.1736A>C (p.Asn579Thr)
8g.54625597A>GCA370991346RP1c.1715A>G (p.Asn572Ser)
c.787+3309A>G (n.787+3309A>G)
c.1736A>G (p.Asn579Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54625597A>TCA370991348RP1c.1715A>T (p.Asn572Ile)
c.787+3309A>T (n.787+3309A>T)
c.1736A>T (p.Asn579Ile)
8g.54625598T>ACA370991349RP1c.1716T>A (p.Asn572Lys)
c.787+3310T>A (n.787+3310T>A)
c.1737T>A (p.Asn579Lys)
8g.54625598T>CCA461098379RP1c.1716T>C (p.Asn572=)
c.787+3310T>C (n.787+3310T>C)
c.1737T>C (p.Asn579=)
8g.54625598T>GCA370991351RP1c.1716T>G (p.Asn572Lys)
c.787+3310T>G (n.787+3310T>G)
c.1737T>G (p.Asn579Lys)
8g.54625598_54625603delinsTAACTCCA1785187966RP1c.1716_1721delinsTAACTC (p.Asn572=)
c.787+3310_787+3315delinsTAACTC (n.787+3310_787+3315delinsTAACTC)
c.1737_1742delinsTAACTC (p.Asn579=)
8g.54625599A>CCA370991356RP1c.1717A>C (p.Asn573His)
c.787+3311A>C (n.787+3311A>C)
c.1738A>C (p.Asn580His)
8g.54625599A>GCA370991355RP1c.1717A>G (p.Asn573Asp)
c.787+3311A>G (n.787+3311A>G)
c.1738A>G (p.Asn580Asp)
8g.54625599A>TCA370991353RP1c.1717A>T (p.Asn573Tyr)
c.787+3311A>T (n.787+3311A>T)
c.1738A>T (p.Asn580Tyr)
8g.54625601_54625605delCA236463RP1c.1719_1723del (p.Ser574CysfsTer7)
c.787+3313_787+3317del (n.787+3313_787+3317del)
c.1740_1744del (p.Ser581CysfsTer7)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625600A>CCA370991357RP1c.1718A>C (p.Asn573Thr)
c.787+3312A>C (n.787+3312A>C)
c.1739A>C (p.Asn580Thr)
8g.54625600A>GCA370991358RP1c.1718A>G (p.Asn573Ser)
c.787+3312A>G (n.787+3312A>G)
c.1739A>G (p.Asn580Ser)
8g.54625600A>TCA370991359RP1c.1718A>T (p.Asn573Ile)
c.787+3312A>T (n.787+3312A>T)
c.1739A>T (p.Asn580Ile)
8g.54625601C>ACA370991361RP1c.1719C>A (p.Asn573Lys)
c.787+3313C>A (n.787+3313C>A)
c.1740C>A (p.Asn580Lys)
8g.54625601C=CA1785187967RP1c.1719C= (p.Asn573=)
c.787+3313C= (n.787+3313C=)
c.1740C= (p.Asn580=)
8g.54625601C>GCA370991363RP1c.1719C>G (p.Asn573Lys)
c.787+3313C>G (n.787+3313C>G)
c.1740C>G (p.Asn580Lys)
8g.54625601C>TCA461098380RP1c.1719C>T (p.Asn573=)
c.787+3313C>T (n.787+3313C>T)
c.1740C>T (p.Asn580=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625602_54625603delCA461098381RP1c.1720_1721del (p.Ser574AsnfsTer8)
c.787+3314_787+3315del (n.787+3314_787+3315del)
c.1741_1742del (p.Ser581AsnfsTer8)
 ClinVar dbSNP
8g.54625602T>ACA370991365RP1c.1720T>A (p.Ser574Thr)
c.787+3314T>A (n.787+3314T>A)
c.1741T>A (p.Ser581Thr)
8g.54625602T>CCA370991366RP1c.1720T>C (p.Ser574Pro)
c.787+3314T>C (n.787+3314T>C)
c.1741T>C (p.Ser581Pro)
8g.54625602T>GCA370991368RP1c.1720T>G (p.Ser574Ala)
c.787+3314T>G (n.787+3314T>G)
c.1741T>G (p.Ser581Ala)
8g.54625603C>ACA370991370RP1c.1721C>A (p.Ser574Ter)
c.787+3315C>A (n.787+3315C>A)
c.1742C>A (p.Ser581Ter)
8g.54625603C=CA1785187968RP1c.1721C= (p.Ser574=)
c.787+3315C= (n.787+3315C=)
c.1742C= (p.Ser581=)
8g.54625603C>GCA370991372RP1c.1721C>G (p.Ser574Ter)
c.787+3315C>G (n.787+3315C>G)
c.1742C>G (p.Ser581Ter)
 ClinVar dbSNP
8g.54625603C>TCA370991373RP1c.1721C>T (p.Ser574Leu)
c.787+3315C>T (n.787+3315C>T)
c.1742C>T (p.Ser581Leu)
 dbSNP
8g.54625604A>CCA461098384RP1c.1722A>C (p.Ser574=)
c.787+3316A>C (n.787+3316A>C)
c.1743A>C (p.Ser581=)
8g.54625604A>GCA461098383RP1c.1722A>G (p.Ser574=)
c.787+3316A>G (n.787+3316A>G)
c.1743A>G (p.Ser581=)
8g.54625604A>TCA461098385RP1c.1722A>T (p.Ser574=)
c.787+3316A>T (n.787+3316A>T)
c.1743A>T (p.Ser581=)

Number of alleles fetched