Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.18543002_18543006delinsAACTCCA2353564494SEC23Bc.1512-17_1512-13delinsAACTC (n.1512-17_1512-13delinsAACTC)
c.1458-17_1458-13delinsAACTC (n.1458-17_1458-13delinsAACTC)
c.36-17_36-13delinsAACTC (n.36-17_36-13delinsAACTC)
20g.18543002_18543012delinsAACTCTGGAATCA2353564493SEC23Bc.1512-17_1512-7delinsAACTCTGGAAT (n.1512-17_1512-7delinsAACTCTGGAAT)
c.1458-17_1458-7delinsAACTCTGGAAT (n.1458-17_1458-7delinsAACTCTGGAAT)
c.36-17_36-7delinsAACTCTGGAAT (n.36-17_36-7delinsAACTCTGGAAT)
20g.18543003_18543005delinsACTCA2353564497SEC23Bc.1512-16_1512-14delinsACT (n.1512-16_1512-14delinsACT)
c.1458-16_1458-14delinsACT (n.1458-16_1458-14delinsACT)
c.36-16_36-14delinsACT (n.36-16_36-14delinsACT)
20g.18543003_18543006delCA634869162SEC23Bc.1512-16_1512-13del (n.1512-16_1512-13del)
c.1458-16_1458-13del (n.1458-16_1458-13del)
c.36-16_36-13del (n.36-16_36-13del)
 dbSNP gnomAD v2 gnomAD v4
20g.18543003_18543012delCA2353564495SEC23Bc.1512-16_1512-7del (n.1512-16_1512-7del)
c.1458-16_1458-7del (n.1458-16_1458-7del)
c.36-16_36-7del (n.36-16_36-7del)
 dbSNP
20g.18543003_18543016delinsTGTTTCA2695229330SEC23Bc.1512-16_1512-3delinsTGTTT (n.1512-16_1512-3delinsTGTTT)
c.1458-16_1458-3delinsTGTTT (n.1458-16_1458-3delinsTGTTT)
c.36-16_36-3delinsTGTTT (n.36-16_36-3delinsTGTTT)
20g.18543004C=CA2353564498SEC23Bc.1512-15C= (n.1512-15C=)
c.1458-15C= (n.1458-15C=)
c.36-15C= (n.36-15C=)
20g.18543004C>TCA9778396SEC23Bc.1512-15C>T (n.1512-15C>T)
c.1458-15C>T (n.1458-15C>T)
c.36-15C>T (n.36-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543006_18543007delCA1015929505SEC23Bc.1512-13_1512-12del (n.1512-13_1512-12del)
c.1458-13_1458-12del (n.1458-13_1458-12del)
c.36-13_36-12del (n.36-13_36-12del)
 dbSNP gnomAD v3 gnomAD v4
20g.18543005T>GCA1015929506SEC23Bc.1512-14T>G (n.1512-14T>G)
c.1458-14T>G (n.1458-14T>G)
c.36-14T>G (n.36-14T>G)
 dbSNP gnomAD v3 gnomAD v4
20g.18543005T=CA2353564499SEC23Bc.1512-14T= (n.1512-14T=)
c.1458-14T= (n.1458-14T=)
c.36-14T= (n.36-14T=)
20g.18543006C>GCA2652043764SEC23Bc.1512-13C>G (n.1512-13C>G)
c.1458-13C>G (n.1458-13C>G)
c.36-13C>G (n.36-13C>G)
 gnomAD v4
20g.18543008G>ACA1015929526SEC23Bc.1512-11G>A (n.1512-11G>A)
c.1458-11G>A (n.1458-11G>A)
c.36-11G>A (n.36-11G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.18543008G=CA2353564501SEC23Bc.1512-11G= (n.1512-11G=)
c.1458-11G= (n.1458-11G=)
c.36-11G= (n.36-11G=)
20g.18543008_18543011delinsGGAACA2353564500SEC23Bc.1512-11_1512-8delinsGGAA (n.1512-11_1512-8delinsGGAA)
c.1458-11_1458-8delinsGGAA (n.1458-11_1458-8delinsGGAA)
c.36-11_36-8delinsGGAA (n.36-11_36-8delinsGGAA)
20g.18543009G>CCA2652043770SEC23Bc.1512-10G>C (n.1512-10G>C)
c.1458-10G>C (n.1458-10G>C)
c.36-10G>C (n.36-10G>C)
 gnomAD v4
20g.18543009G=CA2353564502SEC23Bc.1512-10G= (n.1512-10G=)
c.1458-10G= (n.1458-10G=)
c.36-10G= (n.36-10G=)
20g.18543009G>TCA9778397SEC23Bc.1512-10G>T (n.1512-10G>T)
c.1458-10G>T (n.1458-10G>T)
c.36-10G>T (n.36-10G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543009_18543011delCA634869165SEC23Bc.1512-10_1512-8del (n.1512-10_1512-8del)
c.1458-10_1458-8del (n.1458-10_1458-8del)
c.36-10_36-8del (n.36-10_36-8del)
 dbSNP gnomAD v2 gnomAD v4
20g.18543012T>ACA2353564504SEC23Bc.1512-7T>A (n.1512-7T>A)
c.1458-7T>A (n.1458-7T>A)
c.36-7T>A (n.36-7T>A)
 dbSNP
20g.18543012T>CCA9778398SEC23Bc.1512-7T>C (n.1512-7T>C)
c.1458-7T>C (n.1458-7T>C)
c.36-7T>C (n.36-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543012T=CA2353564503SEC23Bc.1512-7T= (n.1512-7T=)
c.1458-7T= (n.1458-7T=)
c.36-7T= (n.36-7T=)
20g.18543013T>CCA634869168SEC23Bc.1512-6T>C (n.1512-6T>C)
c.1458-6T>C (n.1458-6T>C)
c.36-6T>C (n.36-6T>C)
 dbSNP gnomAD v2 gnomAD v4
20g.18543013T=CA2353564505SEC23Bc.1512-6T= (n.1512-6T=)
c.1458-6T= (n.1458-6T=)
c.36-6T= (n.36-6T=)
20g.18543013_18543014delinsTGCA2353564506SEC23Bc.1512-6_1512-5delinsTG (n.1512-6_1512-5delinsTG)
c.1458-6_1458-5delinsTG (n.1458-6_1458-5delinsTG)
c.36-6_36-5delinsTG (n.36-6_36-5delinsTG)
20g.18543014delCA634869169SEC23Bc.1512-5del (n.1512-5del)
c.1458-5del (n.1458-5del)
c.36-5del (n.36-5del)
 dbSNP gnomAD v2 gnomAD v4
20g.18543014G>ACA2740097044SEC23Bc.1512-5G>A (n.1512-5G>A)
c.1458-5G>A (n.1458-5G>A)
c.36-5G>A (n.36-5G>A)
 ClinVar
20g.18543015T>CCA2577347662SEC23Bc.1512-4T>C (n.1512-4T>C)
c.1458-4T>C (n.1458-4T>C)
c.36-4T>C (n.36-4T>C)
20g.18543015_18543016delinsTCCA2353564507SEC23Bc.1512-4_1512-3delinsTC (n.1512-4_1512-3delinsTC)
c.1458-4_1458-3delinsTC (n.1458-4_1458-3delinsTC)
c.36-4_36-3delinsTC (n.36-4_36-3delinsTC)
20g.18543016delCA634869171SEC23Bc.1512-3del (n.1512-3del)
c.1458-3del (n.1458-3del)
c.36-3del (n.36-3del)
 dbSNP gnomAD v2 gnomAD v4
20g.18543017A=CA2353564508SEC23Bc.1512-2A= (n.1512-2A=)
c.1458-2A= (n.1458-2A=)
c.36-2A= (n.36-2A=)
20g.18543017A>CCA408363930SEC23Bc.1512-2A>C (n.1512-2A>C)
c.1458-2A>C (n.1458-2A>C)
c.36-2A>C (n.36-2A>C)
20g.18543017A>GCA408363931SEC23Bc.1512-2A>G (n.1512-2A>G)
c.1458-2A>G (n.1458-2A>G)
c.36-2A>G (n.36-2A>G)
20g.18543017A>TCA9778399SEC23Bc.1512-2A>T (n.1512-2A>T)
c.1458-2A>T (n.1458-2A>T)
c.36-2A>T (n.36-2A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543018G>ACA408363932SEC23Bc.1512-1G>A (n.1512-1G>A)
c.1458-1G>A (n.1458-1G>A)
c.36-1G>A (n.36-1G>A)
20g.18543018G>CCA408363933SEC23Bc.1512-1G>C (n.1512-1G>C)
c.1458-1G>C (n.1458-1G>C)
c.36-1G>C (n.36-1G>C)
20g.18543018G=CA2353564509SEC23Bc.1512-1G= (n.1512-1G=)
c.1458-1G= (n.1458-1G=)
c.36-1G= (n.36-1G=)
20g.18543018G>TCA9778400SEC23Bc.1512-1G>T (n.1512-1G>T)
c.1458-1G>T (n.1458-1G>T)
c.36-1G>T (n.36-1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543019T>ACA408363934SEC23Bc.1512T>A (p.Asn504Lys)
c.1458T>A (p.Asn486Lys)
c.36T>A (p.Asn12Lys)
20g.18543019T>CCA9778401SEC23Bc.1512T>C (p.Asn504=)
c.1458T>C (p.Asn486=)
c.36T>C (p.Asn12=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543019T>GCA408363935SEC23Bc.1512T>G (p.Asn504Lys)
c.1458T>G (p.Asn486Lys)
c.36T>G (p.Asn12Lys)
20g.18543019T=CA2353564510SEC23Bc.1512T= (p.Asn504=)
c.1458T= (p.Asn486=)
c.36T= (p.Asn12=)
20g.18543020T>ACA408363938SEC23Bc.1513T>A (p.Trp505Arg)
c.1459T>A (p.Trp487Arg)
c.37T>A (p.Trp13Arg)
20g.18543020T>CCA408363936SEC23Bc.1513T>C (p.Trp505Arg)
c.1459T>C (p.Trp487Arg)
c.37T>C (p.Trp13Arg)
20g.18543020T>GCA408363937SEC23Bc.1513T>G (p.Trp505Gly)
c.1459T>G (p.Trp487Gly)
c.37T>G (p.Trp13Gly)
 dbSNP gnomAD v2
20g.18543020T=CA2353564511SEC23Bc.1513T= (p.Trp505=)
c.1459T= (p.Trp487=)
c.37T= (p.Trp13=)
20g.18543021G>ACA408363939SEC23Bc.1514G>A (p.Trp505Ter)
c.1460G>A (p.Trp487Ter)
c.38G>A (p.Trp13Ter)
20g.18543021G>CCA408363940SEC23Bc.1514G>C (p.Trp505Ser)
c.1460G>C (p.Trp487Ser)
c.38G>C (p.Trp13Ser)
20g.18543021G>TCA408363941SEC23Bc.1514G>T (p.Trp505Leu)
c.1460G>T (p.Trp487Leu)
c.38G>T (p.Trp13Leu)
20g.18543022G>ACA408363942SEC23Bc.1515G>A (p.Trp505Ter)
c.1461G>A (p.Trp487Ter)
c.39G>A (p.Trp13Ter)
20g.18543022G>CCA408363943SEC23Bc.1515G>C (p.Trp505Cys)
c.1461G>C (p.Trp487Cys)
c.39G>C (p.Trp13Cys)
20g.18543022G>TCA408363944SEC23Bc.1515G>T (p.Trp505Cys)
c.1461G>T (p.Trp487Cys)
c.39G>T (p.Trp13Cys)
20g.18543023G>ACA408363945SEC23Bc.1516G>A (p.Ala506Thr)
c.1462G>A (p.Ala488Thr)
c.40G>A (p.Ala14Thr)
20g.18543023G>CCA408363946SEC23Bc.1516G>C (p.Ala506Pro)
c.1462G>C (p.Ala488Pro)
c.40G>C (p.Ala14Pro)
20g.18543023G=CA2353564512SEC23Bc.1516G= (p.Ala506=)
c.1462G= (p.Ala488=)
c.40G= (p.Ala14=)
20g.18543023G>TCA408363947SEC23Bc.1516G>T (p.Ala506Ser)
c.1462G>T (p.Ala488Ser)
c.40G>T (p.Ala14Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.18543024C>ACA408363948SEC23Bc.1517C>A (p.Ala506Glu)
c.1463C>A (p.Ala488Glu)
c.41C>A (p.Ala14Glu)
20g.18543024C=CA2353564513SEC23Bc.1517C= (p.Ala506=)
c.1463C= (p.Ala488=)
c.41C= (p.Ala14=)
20g.18543024C>GCA408363949SEC23Bc.1517C>G (p.Ala506Gly)
c.1463C>G (p.Ala488Gly)
c.41C>G (p.Ala14Gly)
20g.18543024C>TCA9778402SEC23Bc.1517C>T (p.Ala506Val)
c.1463C>T (p.Ala488Val)
c.41C>T (p.Ala14Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543025A>CCA509829154SEC23Bc.1518A>C (p.Ala506=)
c.1464A>C (p.Ala488=)
c.42A>C (p.Ala14=)
20g.18543025A>GCA509829155SEC23Bc.1518A>G (p.Ala506=)
c.1464A>G (p.Ala488=)
c.42A>G (p.Ala14=)
20g.18543025A>TCA509829156SEC23Bc.1518A>T (p.Ala506=)
c.1464A>T (p.Ala488=)
c.42A>T (p.Ala14=)
20g.18543026G>ACA9778403SEC23Bc.1519G>A (p.Asp507Asn)
c.1465G>A (p.Asp489Asn)
c.43G>A (p.Asp15Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543026G>CCA408363951SEC23Bc.1519G>C (p.Asp507His)
c.1465G>C (p.Asp489His)
c.43G>C (p.Asp15His)
20g.18543026G=CA2353564514SEC23Bc.1519G= (p.Asp507=)
c.1465G= (p.Asp489=)
c.43G= (p.Asp15=)
20g.18543026G>TCA408363950SEC23Bc.1519G>T (p.Asp507Tyr)
c.1465G>T (p.Asp489Tyr)
c.43G>T (p.Asp15Tyr)
 dbSNP gnomAD v4
20g.18543027A>CCA408363954SEC23Bc.1520A>C (p.Asp507Ala)
c.1466A>C (p.Asp489Ala)
c.44A>C (p.Asp15Ala)
 gnomAD v4
20g.18543027A>GCA408363952SEC23Bc.1520A>G (p.Asp507Gly)
c.1466A>G (p.Asp489Gly)
c.44A>G (p.Asp15Gly)
 gnomAD v4
20g.18543027A>TCA408363953SEC23Bc.1520A>T (p.Asp507Val)
c.1466A>T (p.Asp489Val)
c.44A>T (p.Asp15Val)
20g.18543028T>ACA408363955SEC23Bc.1521T>A (p.Asp507Glu)
c.1467T>A (p.Asp489Glu)
c.45T>A (p.Asp15Glu)
20g.18543028T>CCA509829162SEC23Bc.1521T>C (p.Asp507=)
c.1467T>C (p.Asp489=)
c.45T>C (p.Asp15=)
 ClinVar
20g.18543028T>GCA408363956SEC23Bc.1521T>G (p.Asp507Glu)
c.1467T>G (p.Asp489Glu)
c.45T>G (p.Asp15Glu)
20g.18543029G>ACA312406912SEC23Bc.1522G>A (p.Val508Ile)
c.1468G>A (p.Val490Ile)
c.46G>A (p.Val16Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543029G>CCA408363957SEC23Bc.1522G>C (p.Val508Leu)
c.1468G>C (p.Val490Leu)
c.46G>C (p.Val16Leu)
20g.18543029G=CA2353564515SEC23Bc.1522G= (p.Val508=)
c.1468G= (p.Val490=)
c.46G= (p.Val16=)
20g.18543029G>TCA9778404SEC23Bc.1522G>T (p.Val508Leu)
c.1468G>T (p.Val490Leu)
c.46G>T (p.Val16Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543030T>ACA408363958SEC23Bc.1523T>A (p.Val508Glu)
c.1469T>A (p.Val490Glu)
c.47T>A (p.Val16Glu)
20g.18543030T>CCA408363959SEC23Bc.1523T>C (p.Val508Ala)
c.1469T>C (p.Val490Ala)
c.47T>C (p.Val16Ala)
20g.18543030T>GCA408363960SEC23Bc.1523T>G (p.Val508Gly)
c.1469T>G (p.Val490Gly)
c.47T>G (p.Val16Gly)
20g.18543031A>CCA509829167SEC23Bc.1524A>C (p.Val508=)
c.1470A>C (p.Val490=)
c.48A>C (p.Val16=)
20g.18543031A>GCA509829168SEC23Bc.1524A>G (p.Val508=)
c.1470A>G (p.Val490=)
c.48A>G (p.Val16=)
20g.18543031A>TCA509829170SEC23Bc.1524A>T (p.Val508=)
c.1470A>T (p.Val490=)
c.48A>T (p.Val16=)
 dbSNP
20g.18543032C>ACA408363961SEC23Bc.1525C>A (p.Gln509Lys)
c.1471C>A (p.Gln491Lys)
c.49C>A (p.Gln17Lys)
20g.18543032C=CA2353564516SEC23Bc.1525C= (p.Gln509=)
c.1471C= (p.Gln491=)
c.49C= (p.Gln17=)
20g.18543032C>GCA408363962SEC23Bc.1525C>G (p.Gln509Glu)
c.1471C>G (p.Gln491Glu)
c.49C>G (p.Gln17Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543032C>TCA408363963SEC23Bc.1525C>T (p.Gln509Ter)
c.1471C>T (p.Gln491Ter)
c.49C>T (p.Gln17Ter)
20g.18543033A>CCA408363966SEC23Bc.1526A>C (p.Gln509Pro)
c.1472A>C (p.Gln491Pro)
c.50A>C (p.Gln17Pro)
20g.18543033A>GCA408363965SEC23Bc.1526A>G (p.Gln509Arg)
c.1472A>G (p.Gln491Arg)
c.50A>G (p.Gln17Arg)
20g.18543033A>TCA408363964SEC23Bc.1526A>T (p.Gln509Leu)
c.1472A>T (p.Gln491Leu)
c.50A>T (p.Gln17Leu)
20g.18543034G>ACA9778405SEC23Bc.1527G>A (p.Gln509=)
c.1473G>A (p.Gln491=)
c.51G>A (p.Gln17=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543034G>CCA408363967SEC23Bc.1527G>C (p.Gln509His)
c.1473G>C (p.Gln491His)
c.51G>C (p.Gln17His)
20g.18543034G=CA2353564517SEC23Bc.1527G= (p.Gln509=)
c.1473G= (p.Gln491=)
c.51G= (p.Gln17=)
20g.18543034G>TCA408363968SEC23Bc.1527G>T (p.Gln509His)
c.1473G>T (p.Gln491His)
c.51G>T (p.Gln17His)
20g.18543035A>CCA408363969SEC23Bc.1528A>C (p.Ser510Arg)
c.1474A>C (p.Ser492Arg)
c.52A>C (p.Ser18Arg)
20g.18543035A>GCA408363970SEC23Bc.1528A>G (p.Ser510Gly)
c.1474A>G (p.Ser492Gly)
c.52A>G (p.Ser18Gly)
20g.18543035A>TCA408363971SEC23Bc.1528A>T (p.Ser510Cys)
c.1474A>T (p.Ser492Cys)
c.52A>T (p.Ser18Cys)
20g.18543036G>ACA408363972SEC23Bc.1529G>A (p.Ser510Asn)
c.1475G>A (p.Ser492Asn)
c.53G>A (p.Ser18Asn)
 gnomAD v4 COSMIC
20g.18543036G>CCA408363973SEC23Bc.1529G>C (p.Ser510Thr)
c.1475G>C (p.Ser492Thr)
c.53G>C (p.Ser18Thr)
20g.18543036G>TCA408363974SEC23Bc.1529G>T (p.Ser510Ile)
c.1475G>T (p.Ser492Ile)
c.53G>T (p.Ser18Ile)
20g.18543037T>ACA408363975SEC23Bc.1530T>A (p.Ser510Arg)
c.1476T>A (p.Ser492Arg)
c.54T>A (p.Ser18Arg)
20g.18543037T>CCA509829184SEC23Bc.1530T>C (p.Ser510=)
c.1476T>C (p.Ser492=)
c.54T>C (p.Ser18=)
 COSMIC
20g.18543037T>GCA408363976SEC23Bc.1530T>G (p.Ser510Arg)
c.1476T>G (p.Ser492Arg)
c.54T>G (p.Ser18Arg)
20g.18543038C>ACA408363977SEC23Bc.1531C>A (p.Gln511Lys)
c.1477C>A (p.Gln493Lys)
c.55C>A (p.Gln19Lys)
20g.18543038C=CA2353564518SEC23Bc.1531C= (p.Gln511=)
c.1477C= (p.Gln493=)
c.55C= (p.Gln19=)
20g.18543038C>GCA408363978SEC23Bc.1531C>G (p.Gln511Glu)
c.1477C>G (p.Gln493Glu)
c.55C>G (p.Gln19Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543038C>TCA408363979SEC23Bc.1531C>T (p.Gln511Ter)
c.1477C>T (p.Gln493Ter)
c.55C>T (p.Gln19Ter)
20g.18543039A=CA2353564519SEC23Bc.1532A= (p.Gln511=)
c.1478A= (p.Gln493=)
c.56A= (p.Gln19=)
20g.18543039A>CCA408363981SEC23Bc.1532A>C (p.Gln511Pro)
c.1478A>C (p.Gln493Pro)
c.56A>C (p.Gln19Pro)
20g.18543039A>GCA408363982SEC23Bc.1532A>G (p.Gln511Arg)
c.1478A>G (p.Gln493Arg)
c.56A>G (p.Gln19Arg)
 dbSNP
20g.18543039A>TCA408363980SEC23Bc.1532A>T (p.Gln511Leu)
c.1478A>T (p.Gln493Leu)
c.56A>T (p.Gln19Leu)
 dbSNP
20g.18543040G>ACA312406920SEC23Bc.1533G>A (p.Gln511=)
c.1479G>A (p.Gln493=)
c.57G>A (p.Gln19=)
 dbSNP gnomAD v4
20g.18543040G>CCA408363983SEC23Bc.1533G>C (p.Gln511His)
c.1479G>C (p.Gln493His)
c.57G>C (p.Gln19His)
20g.18543040G=CA2353564520SEC23Bc.1533G= (p.Gln511=)
c.1479G= (p.Gln493=)
c.57G= (p.Gln19=)
20g.18543040G>TCA9778406SEC23Bc.1533G>T (p.Gln511His)
c.1479G>T (p.Gln493His)
c.57G>T (p.Gln19His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543041C>ACA408363984SEC23Bc.1534C>A (p.Leu512Ile)
c.1480C>A (p.Leu494Ile)
c.58C>A (p.Leu20Ile)
20g.18543041C=CA2353564521SEC23Bc.1534C= (p.Leu512=)
c.1480C= (p.Leu494=)
c.58C= (p.Leu20=)
20g.18543041C>GCA408363985SEC23Bc.1534C>G (p.Leu512Val)
c.1480C>G (p.Leu494Val)
c.58C>G (p.Leu20Val)
20g.18543041C>TCA408363986SEC23Bc.1534C>T (p.Leu512Phe)
c.1480C>T (p.Leu494Phe)
c.58C>T (p.Leu20Phe)
 dbSNP gnomAD v3 gnomAD v4
20g.18543042T>ACA408363989SEC23Bc.1535T>A (p.Leu512His)
c.1481T>A (p.Leu494His)
c.59T>A (p.Leu20His)
20g.18543042T>CCA408363987SEC23Bc.1535T>C (p.Leu512Pro)
c.1481T>C (p.Leu494Pro)
c.59T>C (p.Leu20Pro)
20g.18543042T>GCA408363988SEC23Bc.1535T>G (p.Leu512Arg)
c.1481T>G (p.Leu494Arg)
c.59T>G (p.Leu20Arg)
20g.18543043C>ACA312406931SEC23Bc.1536C>A (p.Leu512=)
c.1482C>A (p.Leu494=)
c.60C>A (p.Leu20=)
 ClinVar dbSNP gnomAD v4
20g.18543043C=CA2353564522SEC23Bc.1536C= (p.Leu512=)
c.1482C= (p.Leu494=)
c.60C= (p.Leu20=)
20g.18543043C>GCA509829195SEC23Bc.1536C>G (p.Leu512=)
c.1482C>G (p.Leu494=)
c.60C>G (p.Leu20=)
 gnomAD v4
20g.18543043C>TCA509829196SEC23Bc.1536C>T (p.Leu512=)
c.1482C>T (p.Leu494=)
c.60C>T (p.Leu20=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543044A=CA2353564523SEC23Bc.1537A= (p.Arg513=)
c.1483A= (p.Arg495=)
c.61A= (p.Arg21=)
20g.18543044A>CCA509829198SEC23Bc.1537A>C (p.Arg513=)
c.1483A>C (p.Arg495=)
c.61A>C (p.Arg21=)
20g.18543044A>GCA408363990SEC23Bc.1537A>G (p.Arg513Gly)
c.1483A>G (p.Arg495Gly)
c.61A>G (p.Arg21Gly)
 gnomAD v4
20g.18543044A>TCA312406932SEC23Bc.1537A>T (p.Arg513Trp)
c.1483A>T (p.Arg495Trp)
c.61A>T (p.Arg21Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543046_18543053dupCA2652043825SEC23Bc.1539_1546dup (p.Glu516GlyfsTer3)
c.1485_1492dup (p.Glu498GlyfsTer3)
c.63_70dup (p.Glu24GlyfsTer3)
 gnomAD v4
20g.18543045G>ACA408363991SEC23Bc.1538G>A (p.Arg513Lys)
c.1484G>A (p.Arg495Lys)
c.62G>A (p.Arg21Lys)
20g.18543045G>CCA408363992SEC23Bc.1538G>C (p.Arg513Thr)
c.1484G>C (p.Arg495Thr)
c.62G>C (p.Arg21Thr)
20g.18543045G>TCA408363993SEC23Bc.1538G>T (p.Arg513Met)
c.1484G>T (p.Arg495Met)
c.62G>T (p.Arg21Met)
20g.18543046G>ACA9778407SEC23Bc.1539G>A (p.Arg513=)
c.1485G>A (p.Arg495=)
c.63G>A (p.Arg21=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543046G>CCA408363995SEC23Bc.1539G>C (p.Arg513Ser)
c.1485G>C (p.Arg495Ser)
c.63G>C (p.Arg21Ser)
20g.18543046G=CA2353564524SEC23Bc.1539G= (p.Arg513=)
c.1485G= (p.Arg495=)
c.63G= (p.Arg21=)
20g.18543046G>TCA408363994SEC23Bc.1539G>T (p.Arg513Ser)
c.1485G>T (p.Arg495Ser)
c.63G>T (p.Arg21Ser)
20g.18543047C>ACA408363996SEC23Bc.1540C>A (p.His514Asn)
c.1486C>A (p.His496Asn)
c.64C>A (p.His22Asn)
20g.18543047C>GCA408363997SEC23Bc.1540C>G (p.His514Asp)
c.1486C>G (p.His496Asp)
c.64C>G (p.His22Asp)
20g.18543047C>TCA408363998SEC23Bc.1540C>T (p.His514Tyr)
c.1486C>T (p.His496Tyr)
c.64C>T (p.His22Tyr)
 gnomAD v4
20g.18543048A>CCA408363999SEC23Bc.1541A>C (p.His514Pro)
c.1487A>C (p.His496Pro)
c.65A>C (p.His22Pro)
20g.18543048A>GCA408364000SEC23Bc.1541A>G (p.His514Arg)
c.1487A>G (p.His496Arg)
c.65A>G (p.His22Arg)
20g.18543048A>TCA408364001SEC23Bc.1541A>T (p.His514Leu)
c.1487A>T (p.His496Leu)
c.65A>T (p.His22Leu)
20g.18543049C>ACA408364002SEC23Bc.1542C>A (p.His514Gln)
c.1488C>A (p.His496Gln)
c.66C>A (p.His22Gln)
20g.18543049C>GCA408364003SEC23Bc.1542C>G (p.His514Gln)
c.1488C>G (p.His496Gln)
c.66C>G (p.His22Gln)
20g.18543049C>TCA509829206SEC23Bc.1542C>T (p.His514=)
c.1488C>T (p.His496=)
c.66C>T (p.His22=)
 COSMIC
20g.18543050A=CA2353564525SEC23Bc.1543A= (p.Ile515=)
c.1489A= (p.Ile497=)
c.67A= (p.Ile23=)
20g.18543050A>CCA408364004SEC23Bc.1543A>C (p.Ile515Leu)
c.1489A>C (p.Ile497Leu)
c.67A>C (p.Ile23Leu)
20g.18543050A>GCA9778408SEC23Bc.1543A>G (p.Ile515Val)
c.1489A>G (p.Ile497Val)
c.67A>G (p.Ile23Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543050A>TCA408364005SEC23Bc.1543A>T (p.Ile515Leu)
c.1489A>T (p.Ile497Leu)
c.67A>T (p.Ile23Leu)
20g.18543051T>ACA408364007SEC23Bc.1544T>A (p.Ile515Lys)
c.1490T>A (p.Ile497Lys)
c.68T>A (p.Ile23Lys)
20g.18543051T>CCA408364008SEC23Bc.1544T>C (p.Ile515Thr)
c.1490T>C (p.Ile497Thr)
c.68T>C (p.Ile23Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.18543051T>GCA408364006SEC23Bc.1544T>G (p.Ile515Arg)
c.1490T>G (p.Ile497Arg)
c.68T>G (p.Ile23Arg)
20g.18543051T=CA2353564526SEC23Bc.1544T= (p.Ile515=)
c.1490T= (p.Ile497=)
c.68T= (p.Ile23=)
20g.18543052A>CCA509829209SEC23Bc.1545A>C (p.Ile515=)
c.1491A>C (p.Ile497=)
c.69A>C (p.Ile23=)
20g.18543052A>GCA408364009SEC23Bc.1545A>G (p.Ile515Met)
c.1491A>G (p.Ile497Met)
c.69A>G (p.Ile23Met)
20g.18543052A>TCA509829212SEC23Bc.1545A>T (p.Ile515=)
c.1491A>T (p.Ile497=)
c.69A>T (p.Ile23=)
 gnomAD v4
20g.18543053G>ACA408364011SEC23Bc.1546G>A (p.Glu516Lys)
c.1492G>A (p.Glu498Lys)
c.70G>A (p.Glu24Lys)
20g.18543053G>CCA408364010SEC23Bc.1546G>C (p.Glu516Gln)
c.1492G>C (p.Glu498Gln)
c.70G>C (p.Glu24Gln)
20g.18543053G>TCA408364012SEC23Bc.1546G>T (p.Glu516Ter)
c.1492G>T (p.Glu498Ter)
c.70G>T (p.Glu24Ter)
20g.18543054A>CCA408364013SEC23Bc.1547A>C (p.Glu516Ala)
c.1493A>C (p.Glu498Ala)
c.71A>C (p.Glu24Ala)
20g.18543054A>GCA408364014SEC23Bc.1547A>G (p.Glu516Gly)
c.1493A>G (p.Glu498Gly)
c.71A>G (p.Glu24Gly)
20g.18543054A>TCA408364015SEC23Bc.1547A>T (p.Glu516Val)
c.1493A>T (p.Glu498Val)
c.71A>T (p.Glu24Val)
20g.18543055A>CCA408364016SEC23Bc.1548A>C (p.Glu516Asp)
c.1494A>C (p.Glu498Asp)
c.72A>C (p.Glu24Asp)
20g.18543055A>GCA509829216SEC23Bc.1548A>G (p.Glu516=)
c.1494A>G (p.Glu498=)
c.72A>G (p.Glu24=)
20g.18543055A>TCA408364017SEC23Bc.1548A>T (p.Glu516Asp)
c.1494A>T (p.Glu498Asp)
c.72A>T (p.Glu24Asp)
20g.18543056G>ACA408364018SEC23Bc.1549G>A (p.Ala517Thr)
c.1495G>A (p.Ala499Thr)
c.73G>A (p.Ala25Thr)
20g.18543056G>CCA408364019SEC23Bc.1549G>C (p.Ala517Pro)
c.1495G>C (p.Ala499Pro)
c.73G>C (p.Ala25Pro)
20g.18543056G>TCA408364020SEC23Bc.1549G>T (p.Ala517Ser)
c.1495G>T (p.Ala499Ser)
c.73G>T (p.Ala25Ser)
 gnomAD v4
20g.18543057C>ACA408364021SEC23Bc.1550C>A (p.Ala517Glu)
c.1496C>A (p.Ala499Glu)
c.74C>A (p.Ala25Glu)
20g.18543057C>GCA408364022SEC23Bc.1550C>G (p.Ala517Gly)
c.1496C>G (p.Ala499Gly)
c.74C>G (p.Ala25Gly)
20g.18543057C>TCA408364023SEC23Bc.1550C>T (p.Ala517Val)
c.1496C>T (p.Ala499Val)
c.74C>T (p.Ala25Val)
20g.18543058A=CA2353564527SEC23Bc.1551A= (p.Ala517=)
c.1497A= (p.Ala499=)
c.75A= (p.Ala25=)
20g.18543058A>CCA509829220SEC23Bc.1551A>C (p.Ala517=)
c.1497A>C (p.Ala499=)
c.75A>C (p.Ala25=)
20g.18543058A>GCA509829222SEC23Bc.1551A>G (p.Ala517=)
c.1497A>G (p.Ala499=)
c.75A>G (p.Ala25=)
20g.18543058A>TCA509829221SEC23Bc.1551A>T (p.Ala517=)
c.1497A>T (p.Ala499=)
c.75A>T (p.Ala25=)
 dbSNP gnomAD v3 gnomAD v4
20g.18543059G>ACA312406938SEC23Bc.1552G>A (p.Ala518Thr)
c.1498G>A (p.Ala500Thr)
c.76G>A (p.Ala26Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.18543059G>CCA408364025SEC23Bc.1552G>C (p.Ala518Pro)
c.1498G>C (p.Ala500Pro)
c.76G>C (p.Ala26Pro)
20g.18543059G=CA2353564528SEC23Bc.1552G= (p.Ala518=)
c.1498G= (p.Ala500=)
c.76G= (p.Ala26=)
20g.18543059G>TCA408364024SEC23Bc.1552G>T (p.Ala518Ser)
c.1498G>T (p.Ala500Ser)
c.76G>T (p.Ala26Ser)
20g.18543060C>ACA408364026SEC23Bc.1553C>A (p.Ala518Glu)
c.1499C>A (p.Ala500Glu)
c.77C>A (p.Ala26Glu)
20g.18543060C=CA2353564529SEC23Bc.1553C= (p.Ala518=)
c.1499C= (p.Ala500=)
c.77C= (p.Ala26=)
20g.18543060C>GCA408364027SEC23Bc.1553C>G (p.Ala518Gly)
c.1499C>G (p.Ala500Gly)
c.77C>G (p.Ala26Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.18543060C>TCA408364028SEC23Bc.1553C>T (p.Ala518Val)
c.1499C>T (p.Ala500Val)
c.77C>T (p.Ala26Val)
20g.18543061A=CA2353564530SEC23Bc.1554A= (p.Ala518=)
c.1500A= (p.Ala500=)
c.78A= (p.Ala26=)
20g.18543061A>CCA509829226SEC23Bc.1554A>C (p.Ala518=)
c.1500A>C (p.Ala500=)
c.78A>C (p.Ala26=)
20g.18543061A>GCA9778409SEC23Bc.1554A>G (p.Ala518=)
c.1500A>G (p.Ala500=)
c.78A>G (p.Ala26=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543061A>TCA509829229SEC23Bc.1554A>T (p.Ala518=)
c.1500A>T (p.Ala500=)
c.78A>T (p.Ala26=)
20g.18543062T>ACA408364029SEC23Bc.1555T>A (p.Phe519Ile)
c.1501T>A (p.Phe501Ile)
c.79T>A (p.Phe27Ile)
20g.18543062T>CCA408364030SEC23Bc.1555T>C (p.Phe519Leu)
c.1501T>C (p.Phe501Leu)
c.79T>C (p.Phe27Leu)
 ClinVar gnomAD v4
20g.18543062T>GCA408364031SEC23Bc.1555T>G (p.Phe519Val)
c.1501T>G (p.Phe501Val)
c.79T>G (p.Phe27Val)
20g.18543063T>ACA408364032SEC23Bc.1556T>A (p.Phe519Tyr)
c.1502T>A (p.Phe501Tyr)
c.80T>A (p.Phe27Tyr)
20g.18543063T>CCA408364033SEC23Bc.1556T>C (p.Phe519Ser)
c.1502T>C (p.Phe501Ser)
c.80T>C (p.Phe27Ser)
20g.18543063T>GCA408364034SEC23Bc.1556T>G (p.Phe519Cys)
c.1502T>G (p.Phe501Cys)
c.80T>G (p.Phe27Cys)
 dbSNP gnomAD v3 gnomAD v4
20g.18543063T=CA2353564531SEC23Bc.1556T= (p.Phe519=)
c.1502T= (p.Phe501=)
c.80T= (p.Phe27=)
20g.18543064T>ACA408364035SEC23Bc.1557T>A (p.Phe519Leu)
c.1503T>A (p.Phe501Leu)
c.81T>A (p.Phe27Leu)
20g.18543064T>CCA509829235SEC23Bc.1557T>C (p.Phe519=)
c.1503T>C (p.Phe501=)
c.81T>C (p.Phe27=)
20g.18543064T>GCA408364036SEC23Bc.1557T>G (p.Phe519Leu)
c.1503T>G (p.Phe501Leu)
c.81T>G (p.Phe27Leu)
20g.18543065G>ACA408364038SEC23Bc.1558G>A (p.Asp520Asn)
c.1504G>A (p.Asp502Asn)
c.82G>A (p.Asp28Asn)
20g.18543065G>CCA408364039SEC23Bc.1558G>C (p.Asp520His)
c.1504G>C (p.Asp502His)
c.82G>C (p.Asp28His)
20g.18543065G>TCA408364037SEC23Bc.1558G>T (p.Asp520Tyr)
c.1504G>T (p.Asp502Tyr)
c.82G>T (p.Asp28Tyr)
20g.18543066A>CCA408364040SEC23Bc.1559A>C (p.Asp520Ala)
c.1505A>C (p.Asp502Ala)
c.83A>C (p.Asp28Ala)
20g.18543066A>GCA408364041SEC23Bc.1559A>G (p.Asp520Gly)
c.1505A>G (p.Asp502Gly)
c.83A>G (p.Asp28Gly)
20g.18543066A>TCA408364042SEC23Bc.1559A>T (p.Asp520Val)
c.1505A>T (p.Asp502Val)
c.83A>T (p.Asp28Val)
20g.18543067C>ACA408364043SEC23Bc.1560C>A (p.Asp520Glu)
c.1506C>A (p.Asp502Glu)
c.84C>A (p.Asp28Glu)
20g.18543067C>GCA408364044SEC23Bc.1560C>G (p.Asp520Glu)
c.1506C>G (p.Asp502Glu)
c.84C>G (p.Asp28Glu)
20g.18543067C>TCA509829242SEC23Bc.1560C>T (p.Asp520=)
c.1506C>T (p.Asp502=)
c.84C>T (p.Asp28=)
20g.18543068C>ACA408364045SEC23Bc.1561C>A (p.Gln521Lys)
c.1507C>A (p.Gln503Lys)
c.85C>A (p.Gln29Lys)
20g.18543068C=CA2353564532SEC23Bc.1561C= (p.Gln521=)
c.1507C= (p.Gln503=)
c.85C= (p.Gln29=)
20g.18543068C>GCA408364046SEC23Bc.1561C>G (p.Gln521Glu)
c.1507C>G (p.Gln503Glu)
c.85C>G (p.Gln29Glu)
20g.18543068C>TCA408364047SEC23Bc.1561C>T (p.Gln521Ter)
c.1507C>T (p.Gln503Ter)
c.85C>T (p.Gln29Ter)
 ClinVar dbSNP gnomAD v4
20g.18543069A>CCA408364048SEC23Bc.1562A>C (p.Gln521Pro)
c.1508A>C (p.Gln503Pro)
c.86A>C (p.Gln29Pro)
20g.18543069A>GCA408364049SEC23Bc.1562A>G (p.Gln521Arg)
c.1508A>G (p.Gln503Arg)
c.86A>G (p.Gln29Arg)
20g.18543069A>TCA408364050SEC23Bc.1562A>T (p.Gln521Leu)
c.1508A>T (p.Gln503Leu)
c.86A>T (p.Gln29Leu)
20g.18543070G>ACA509829248SEC23Bc.1563G>A (p.Gln521=)
c.1509G>A (p.Gln503=)
c.87G>A (p.Gln29=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.18543070G>CCA408364051SEC23Bc.1563G>C (p.Gln521His)
c.1509G>C (p.Gln503His)
c.87G>C (p.Gln29His)
 COSMIC
20g.18543070G=CA2353564533SEC23Bc.1563G= (p.Gln521=)
c.1509G= (p.Gln503=)
c.87G= (p.Gln29=)
20g.18543070G>TCA408364052SEC23Bc.1563G>T (p.Gln521His)
c.1509G>T (p.Gln503His)
c.87G>T (p.Gln29His)
 gnomAD v4
20g.18543071G>ACA408364055SEC23Bc.1564G>A (p.Glu522Lys)
c.1510G>A (p.Glu504Lys)
c.88G>A (p.Glu30Lys)
 gnomAD v4
20g.18543071G>CCA408364054SEC23Bc.1564G>C (p.Glu522Gln)
c.1510G>C (p.Glu504Gln)
c.88G>C (p.Glu30Gln)
20g.18543071G>TCA408364053SEC23Bc.1564G>T (p.Glu522Ter)
c.1510G>T (p.Glu504Ter)
c.88G>T (p.Glu30Ter)
 COSMIC
20g.18543072A>CCA408364056SEC23Bc.1565A>C (p.Glu522Ala)
c.1511A>C (p.Glu504Ala)
c.89A>C (p.Glu30Ala)
20g.18543072A>GCA408364057SEC23Bc.1565A>G (p.Glu522Gly)
c.1511A>G (p.Glu504Gly)
c.89A>G (p.Glu30Gly)
20g.18543072A>TCA408364058SEC23Bc.1565A>T (p.Glu522Val)
c.1511A>T (p.Glu504Val)
c.89A>T (p.Glu30Val)
20g.18543073G>ACA9778410SEC23Bc.1566G>A (p.Glu522=)
c.1512G>A (p.Glu504=)
c.90G>A (p.Glu30=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543073G>CCA408364059SEC23Bc.1566G>C (p.Glu522Asp)
c.1512G>C (p.Glu504Asp)
c.90G>C (p.Glu30Asp)
20g.18543073G=CA2353564534SEC23Bc.1566G= (p.Glu522=)
c.1512G= (p.Glu504=)
c.90G= (p.Glu30=)
20g.18543073G>TCA408364060SEC23Bc.1566G>T (p.Glu522Asp)
c.1512G>T (p.Glu504Asp)
c.90G>T (p.Glu30Asp)
20g.18543074dupCA2652043868SEC23Bc.1567dup (p.Ala523GlyfsTer?)
c.1513dup (p.Ala505GlyfsTer?)
c.91dup (p.Ala31GlyfsTer?)
 gnomAD v4
20g.18543074G>ACA408364061SEC23Bc.1567G>A (p.Ala523Thr)
c.1513G>A (p.Ala505Thr)
c.91G>A (p.Ala31Thr)
20g.18543074G>CCA408364062SEC23Bc.1567G>C (p.Ala523Pro)
c.1513G>C (p.Ala505Pro)
c.91G>C (p.Ala31Pro)
20g.18543074G>TCA408364063SEC23Bc.1567G>T (p.Ala523Ser)
c.1513G>T (p.Ala505Ser)
c.91G>T (p.Ala31Ser)
20g.18543075C>ACA408364064SEC23Bc.1568C>A (p.Ala523Asp)
c.1514C>A (p.Ala505Asp)
c.92C>A (p.Ala31Asp)
20g.18543075C>GCA408364065SEC23Bc.1568C>G (p.Ala523Gly)
c.1514C>G (p.Ala505Gly)
c.92C>G (p.Ala31Gly)
20g.18543075C>TCA408364066SEC23Bc.1568C>T (p.Ala523Val)
c.1514C>T (p.Ala505Val)
c.92C>T (p.Ala31Val)
20g.18543076T>ACA509829259SEC23Bc.1569T>A (p.Ala523=)
c.1515T>A (p.Ala505=)
c.93T>A (p.Ala31=)
20g.18543076T>CCA312406941SEC23Bc.1569T>C (p.Ala523=)
c.1515T>C (p.Ala505=)
c.93T>C (p.Ala31=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.18543076T>GCA509829260SEC23Bc.1569T>G (p.Ala523=)
c.1515T>G (p.Ala505=)
c.93T>G (p.Ala31=)
 gnomAD v4
20g.18543076T=CA2353564535SEC23Bc.1569T= (p.Ala523=)
c.1515T= (p.Ala505=)
c.93T= (p.Ala31=)
20g.18543077G>ACA408364069SEC23Bc.1570G>A (p.Ala524Thr)
c.1516G>A (p.Ala506Thr)
c.94G>A (p.Ala32Thr)
 gnomAD v4
20g.18543077G>CCA408364068SEC23Bc.1570G>C (p.Ala524Pro)
c.1516G>C (p.Ala506Pro)
c.94G>C (p.Ala32Pro)
20g.18543077G>TCA408364067SEC23Bc.1570G>T (p.Ala524Ser)
c.1516G>T (p.Ala506Ser)
c.94G>T (p.Ala32Ser)
20g.18543078C>ACA408364070SEC23Bc.1571C>A (p.Ala524Glu)
c.1517C>A (p.Ala506Glu)
c.95C>A (p.Ala32Glu)
20g.18543078C=CA2353564536SEC23Bc.1571C= (p.Ala524=)
c.1517C= (p.Ala506=)
c.95C= (p.Ala32=)
20g.18543078C>GCA408364071SEC23Bc.1571C>G (p.Ala524Gly)
c.1517C>G (p.Ala506Gly)
c.95C>G (p.Ala32Gly)
20g.18543078C>TCA222937SEC23Bc.1571C>T (p.Ala524Val)
c.1517C>T (p.Ala506Val)
c.95C>T (p.Ala32Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543079G>ACA509829266SEC23Bc.1572G>A (p.Ala524=)
c.1518G>A (p.Ala506=)
c.96G>A (p.Ala32=)
 dbSNP gnomAD v2 gnomAD v4
20g.18543079G>CCA509829267SEC23Bc.1572G>C (p.Ala524=)
c.1518G>C (p.Ala506=)
c.96G>C (p.Ala32=)
20g.18543079G=CA2353564537SEC23Bc.1572G= (p.Ala524=)
c.1518G= (p.Ala506=)
c.96G= (p.Ala32=)
20g.18543079G>TCA509829268SEC23Bc.1572G>T (p.Ala524=)
c.1518G>T (p.Ala506=)
c.96G>T (p.Ala32=)
20g.18543080G>ACA408364072SEC23Bc.1573G>A (p.Ala525Thr)
c.1519G>A (p.Ala507Thr)
c.97G>A (p.Ala33Thr)
20g.18543080G>CCA408364073SEC23Bc.1573G>C (p.Ala525Pro)
c.1519G>C (p.Ala507Pro)
c.97G>C (p.Ala33Pro)
20g.18543080G>TCA408364074SEC23Bc.1573G>T (p.Ala525Ser)
c.1519G>T (p.Ala507Ser)
c.97G>T (p.Ala33Ser)
20g.18543081C>ACA408364075SEC23Bc.1574C>A (p.Ala525Glu)
c.1520C>A (p.Ala507Glu)
c.98C>A (p.Ala33Glu)
20g.18543081C=CA2353564538SEC23Bc.1574C= (p.Ala525=)
c.1520C= (p.Ala507=)
c.98C= (p.Ala33=)
20g.18543081C>GCA408364076SEC23Bc.1574C>G (p.Ala525Gly)
c.1520C>G (p.Ala507Gly)
c.98C>G (p.Ala33Gly)
20g.18543081C>TCA9778411SEC23Bc.1574C>T (p.Ala525Val)
c.1520C>T (p.Ala507Val)
c.98C>T (p.Ala33Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543082A>CCA509829278SEC23Bc.1575A>C (p.Ala525=)
c.1521A>C (p.Ala507=)
c.99A>C (p.Ala33=)
20g.18543082A>GCA509829280SEC23Bc.1575A>G (p.Ala525=)
c.1521A>G (p.Ala507=)
c.99A>G (p.Ala33=)
20g.18543082A>TCA509829282SEC23Bc.1575A>T (p.Ala525=)
c.1521A>T (p.Ala507=)
c.99A>T (p.Ala33=)
20g.18543083G>ACA408364077SEC23Bc.1576G>A (p.Val526Met)
c.1522G>A (p.Val508Met)
c.100G>A (p.Val34Met)
20g.18543083G>CCA408364078SEC23Bc.1576G>C (p.Val526Leu)
c.1522G>C (p.Val508Leu)
c.100G>C (p.Val34Leu)
20g.18543083G>TCA408364079SEC23Bc.1576G>T (p.Val526Leu)
c.1522G>T (p.Val508Leu)
c.100G>T (p.Val34Leu)
20g.18543084T>ACA408364080SEC23Bc.1577T>A (p.Val526Glu)
c.1523T>A (p.Val508Glu)
c.101T>A (p.Val34Glu)
20g.18543084T>CCA408364081SEC23Bc.1577T>C (p.Val526Ala)
c.1523T>C (p.Val508Ala)
c.101T>C (p.Val34Ala)
20g.18543084T>GCA408364082SEC23Bc.1577T>G (p.Val526Gly)
c.1523T>G (p.Val508Gly)
c.101T>G (p.Val34Gly)
20g.18543085G>ACA9778412SEC23Bc.1578G>A (p.Val526=)
c.1524G>A (p.Val508=)
c.102G>A (p.Val34=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543085G>CCA509829288SEC23Bc.1578G>C (p.Val526=)
c.1524G>C (p.Val508=)
c.102G>C (p.Val34=)
 dbSNP
20g.18543085G=CA2353564539SEC23Bc.1578G= (p.Val526=)
c.1524G= (p.Val508=)
c.102G= (p.Val34=)
20g.18543085G>TCA509829290SEC23Bc.1578G>T (p.Val526=)
c.1524G>T (p.Val508=)
c.102G>T (p.Val34=)
20g.18543085_18543086delinsGTCA2353564540SEC23Bc.1578_1579delinsGT (p.Val526=)
c.1524_1525delinsGT (p.Val508=)
c.102_103delinsGT (p.Val34=)
20g.18543086T>ACA408364083SEC23Bc.1579T>A (p.Leu527Met)
c.1525T>A (p.Leu509Met)
c.103T>A (p.Leu35Met)
20g.18543086T>CCA509829292SEC23Bc.1579T>C (p.Leu527=)
c.1525T>C (p.Leu509=)
c.103T>C (p.Leu35=)
20g.18543086T>GCA408364084SEC23Bc.1579T>G (p.Leu527Val)
c.1525T>G (p.Leu509Val)
c.103T>G (p.Leu35Val)
20g.18543087delCA2353564541SEC23Bc.1580del (p.Leu527Ter)
c.1526del (p.Leu509Ter)
c.104del (p.Leu35Ter)
 dbSNP
20g.18543087T>ACA408364085SEC23Bc.1580T>A (p.Leu527Ter)
c.1526T>A (p.Leu509Ter)
c.104T>A (p.Leu35Ter)
20g.18543087T>CCA408364086SEC23Bc.1580T>C (p.Leu527Ser)
c.1526T>C (p.Leu509Ser)
c.104T>C (p.Leu35Ser)
 ClinVar dbSNP gnomAD v4
20g.18543087T>GCA408364087SEC23Bc.1580T>G (p.Leu527Trp)
c.1526T>G (p.Leu509Trp)
c.104T>G (p.Leu35Trp)
20g.18543087T=CA2353564542SEC23Bc.1580T= (p.Leu527=)
c.1526T= (p.Leu509=)
c.104T= (p.Leu35=)
20g.18543088G>ACA509829297SEC23Bc.1581G>A (p.Leu527=)
c.1527G>A (p.Leu509=)
c.105G>A (p.Leu35=)
20g.18543088G>CCA408364088SEC23Bc.1581G>C (p.Leu527Phe)
c.1527G>C (p.Leu509Phe)
c.105G>C (p.Leu35Phe)
 dbSNP
20g.18543088G=CA2353564543SEC23Bc.1581G= (p.Leu527=)
c.1527G= (p.Leu509=)
c.105G= (p.Leu35=)
20g.18543088G>TCA9778413SEC23Bc.1581G>T (p.Leu527Phe)
c.1527G>T (p.Leu509Phe)
c.105G>T (p.Leu35Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543089A=CA2353564544SEC23Bc.1582A= (p.Met528=)
c.1528A= (p.Met510=)
c.106A= (p.Met36=)
20g.18543089A>CCA408364089SEC23Bc.1582A>C (p.Met528Leu)
c.1528A>C (p.Met510Leu)
c.106A>C (p.Met36Leu)
 dbSNP
20g.18543089A>GCA408364090SEC23Bc.1582A>G (p.Met528Val)
c.1528A>G (p.Met510Val)
c.106A>G (p.Met36Val)
20g.18543089A>TCA408364091SEC23Bc.1582A>T (p.Met528Leu)
c.1528A>T (p.Met510Leu)
c.106A>T (p.Met36Leu)
20g.18543090T>ACA408364092SEC23Bc.1583T>A (p.Met528Lys)
c.1529T>A (p.Met510Lys)
c.107T>A (p.Met36Lys)
20g.18543090T>CCA408364093SEC23Bc.1583T>C (p.Met528Thr)
c.1529T>C (p.Met510Thr)
c.107T>C (p.Met36Thr)
20g.18543090T>GCA408364094SEC23Bc.1583T>G (p.Met528Arg)
c.1529T>G (p.Met510Arg)
c.107T>G (p.Met36Arg)
20g.18543091G>ACA408364097SEC23Bc.1584G>A (p.Met528Ile)
c.1530G>A (p.Met510Ile)
c.108G>A (p.Met36Ile)
 gnomAD v4
20g.18543091G>CCA408364096SEC23Bc.1584G>C (p.Met528Ile)
c.1530G>C (p.Met510Ile)
c.108G>C (p.Met36Ile)
20g.18543091G>TCA408364095SEC23Bc.1584G>T (p.Met528Ile)
c.1530G>T (p.Met510Ile)
c.108G>T (p.Met36Ile)
20g.18543092G>ACA408364098SEC23Bc.1585G>A (p.Ala529Thr)
c.1531G>A (p.Ala511Thr)
c.109G>A (p.Ala37Thr)
20g.18543092G>CCA408364099SEC23Bc.1585G>C (p.Ala529Pro)
c.1531G>C (p.Ala511Pro)
c.109G>C (p.Ala37Pro)
20g.18543092G>TCA408364100SEC23Bc.1585G>T (p.Ala529Ser)
c.1531G>T (p.Ala511Ser)
c.109G>T (p.Ala37Ser)
20g.18543093C>ACA408364101SEC23Bc.1586C>A (p.Ala529Glu)
c.1532C>A (p.Ala511Glu)
c.110C>A (p.Ala37Glu)
20g.18543093C>GCA408364102SEC23Bc.1586C>G (p.Ala529Gly)
c.1532C>G (p.Ala511Gly)
c.110C>G (p.Ala37Gly)
20g.18543093C>TCA408364103SEC23Bc.1586C>T (p.Ala529Val)
c.1532C>T (p.Ala511Val)
c.110C>T (p.Ala37Val)
 gnomAD v4
20g.18543094A>CCA509829307SEC23Bc.1587A>C (p.Ala529=)
c.1533A>C (p.Ala511=)
c.111A>C (p.Ala37=)
20g.18543094A>GCA509829308SEC23Bc.1587A>G (p.Ala529=)
c.1533A>G (p.Ala511=)
c.111A>G (p.Ala37=)
 gnomAD v4
20g.18543094A>TCA509829309SEC23Bc.1587A>T (p.Ala529=)
c.1533A>T (p.Ala511=)
c.111A>T (p.Ala37=)
20g.18543095C>ACA509829310SEC23Bc.1588C>A (p.Arg530=)
c.1534C>A (p.Arg512=)
c.112C>A (p.Arg38=)
20g.18543095C=CA2353564545SEC23Bc.1588C= (p.Arg530=)
c.1534C= (p.Arg512=)
c.112C= (p.Arg38=)
20g.18543095C>GCA408364104SEC23Bc.1588C>G (p.Arg530Gly)
c.1534C>G (p.Arg512Gly)
c.112C>G (p.Arg38Gly)
20g.18543095C>TCA114849SEC23Bc.1588C>T (p.Arg530Trp)
c.1534C>T (p.Arg512Trp)
c.112C>T (p.Arg38Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.18543096G>ACA9778414SEC23Bc.1589G>A (p.Arg530Gln)
c.1535G>A (p.Arg512Gln)
c.113G>A (p.Arg38Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543096G>CCA408364105SEC23Bc.1589G>C (p.Arg530Pro)
c.1535G>C (p.Arg512Pro)
c.113G>C (p.Arg38Pro)
 gnomAD v4
20g.18543096G=CA2353564546SEC23Bc.1589G= (p.Arg530=)
c.1535G= (p.Arg512=)
c.113G= (p.Arg38=)
20g.18543096G>TCA408364106SEC23Bc.1589G>T (p.Arg530Leu)
c.1535G>T (p.Arg512Leu)
c.113G>T (p.Arg38Leu)
20g.18543097G>ACA509829318SEC23Bc.1590G>A (p.Arg530=)
c.1536G>A (p.Arg512=)
c.114G>A (p.Arg38=)
20g.18543097G>CCA312406962SEC23Bc.1590G>C (p.Arg530=)
c.1536G>C (p.Arg512=)
c.114G>C (p.Arg38=)
 dbSNP gnomAD v4
20g.18543097G=CA2353564547SEC23Bc.1590G= (p.Arg530=)
c.1536G= (p.Arg512=)
c.114G= (p.Arg38=)
20g.18543097G>TCA509829319SEC23Bc.1590G>T (p.Arg530=)
c.1536G>T (p.Arg512=)
c.114G>T (p.Arg38=)
20g.18543098C>ACA408364107SEC23Bc.1591C>A (p.Leu531Ile)
c.1537C>A (p.Leu513Ile)
c.115C>A (p.Leu39Ile)
20g.18543098C>GCA408364108SEC23Bc.1591C>G (p.Leu531Val)
c.1537C>G (p.Leu513Val)
c.115C>G (p.Leu39Val)
20g.18543098C>TCA408364109SEC23Bc.1591C>T (p.Leu531Phe)
c.1537C>T (p.Leu513Phe)
c.115C>T (p.Leu39Phe)
20g.18543099T>ACA408364110SEC23Bc.1592T>A (p.Leu531His)
c.1538T>A (p.Leu513His)
c.116T>A (p.Leu39His)
20g.18543099T>CCA408364112SEC23Bc.1592T>C (p.Leu531Pro)
c.1538T>C (p.Leu513Pro)
c.116T>C (p.Leu39Pro)
20g.18543099T>GCA408364111SEC23Bc.1592T>G (p.Leu531Arg)
c.1538T>G (p.Leu513Arg)
c.116T>G (p.Leu39Arg)
20g.18543100T>ACA509829323SEC23Bc.1593T>A (p.Leu531=)
c.1539T>A (p.Leu513=)
c.117T>A (p.Leu39=)
20g.18543100T>CCA509829326SEC23Bc.1593T>C (p.Leu531=)
c.1539T>C (p.Leu513=)
c.117T>C (p.Leu39=)
20g.18543100T>GCA509829325SEC23Bc.1593T>G (p.Leu531=)
c.1539T>G (p.Leu513=)
c.117T>G (p.Leu39=)
20g.18543101G>ACA408364113SEC23Bc.1594G>A (p.Gly532Arg)
c.1540G>A (p.Gly514Arg)
c.118G>A (p.Gly40Arg)
20g.18543101G>CCA408364114SEC23Bc.1594G>C (p.Gly532Arg)
c.1540G>C (p.Gly514Arg)
c.118G>C (p.Gly40Arg)
20g.18543101G>TCA408364115SEC23Bc.1594G>T (p.Gly532Trp)
c.1540G>T (p.Gly514Trp)
c.118G>T (p.Gly40Trp)
20g.18543102G>ACA408364116SEC23Bc.1595G>A (p.Gly532Glu)
c.1541G>A (p.Gly514Glu)
c.119G>A (p.Gly40Glu)
20g.18543102G>CCA9778415SEC23Bc.1595G>C (p.Gly532Ala)
c.1541G>C (p.Gly514Ala)
c.119G>C (p.Gly40Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543102G=CA2353564548SEC23Bc.1595G= (p.Gly532=)
c.1541G= (p.Gly514=)
c.119G= (p.Gly40=)
20g.18543102G>TCA408364117SEC23Bc.1595G>T (p.Gly532Val)
c.1541G>T (p.Gly514Val)
c.119G>T (p.Gly40Val)
20g.18543103G>ACA509829328SEC23Bc.1596G>A (p.Gly532=)
c.1542G>A (p.Gly514=)
c.120G>A (p.Gly40=)
20g.18543103G>CCA9778416SEC23Bc.1596G>C (p.Gly532=)
c.1542G>C (p.Gly514=)
c.120G>C (p.Gly40=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543103G=CA2353564549SEC23Bc.1596G= (p.Gly532=)
c.1542G= (p.Gly514=)
c.120G= (p.Gly40=)
20g.18543103G>TCA509829329SEC23Bc.1596G>T (p.Gly532=)
c.1542G>T (p.Gly514=)
c.120G>T (p.Gly40=)
20g.18543104G>ACA408364118SEC23Bc.1597G>A (p.Val533Met)
c.1543G>A (p.Val515Met)
c.121G>A (p.Val41Met)
20g.18543104G>CCA408364119SEC23Bc.1597G>C (p.Val533Leu)
c.1543G>C (p.Val515Leu)
c.121G>C (p.Val41Leu)
20g.18543104G>TCA408364120SEC23Bc.1597G>T (p.Val533Leu)
c.1543G>T (p.Val515Leu)
c.121G>T (p.Val41Leu)

Number of alleles fetched