Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197090803A=CA1217925596ASPMn.2923+47T=
c.9636+47T= (n.9636+47T=)
c.9858+47T= (n.9858+47T=)
c.9612+47T= (n.9612+47T=)
c.4881+47T= (n.4881+47T=)
c.2631+47T= (n.2631+47T=)
c.3594+47T= (n.3594+47T=)
1g.197090803A>CCA1217925597ASPMn.2923+47T>G
c.9636+47T>G (n.9636+47T>G)
c.9858+47T>G (n.9858+47T>G)
c.9612+47T>G (n.9612+47T>G)
c.4881+47T>G (n.4881+47T>G)
c.2631+47T>G (n.2631+47T>G)
c.3594+47T>G (n.3594+47T>G)
dbSNP
1g.197090803_197090804insTCCA2557910379ASPMn.2923+46_2923+47insGA
c.9636+46_9636+47insGA (n.9636+46_9636+47insGA)
c.9858+46_9858+47insGA (n.9858+46_9858+47insGA)
c.9612+46_9612+47insGA (n.9612+46_9612+47insGA)
c.4881+46_4881+47insGA (n.4881+46_4881+47insGA)
c.2631+46_2631+47insGA (n.2631+46_2631+47insGA)
c.3594+46_3594+47insGA (n.3594+46_3594+47insGA)
1g.197090804A=CA1217925600ASPMn.2923+46T=
c.9636+46T= (n.9636+46T=)
c.9858+46T= (n.9858+46T=)
c.9612+46T= (n.9612+46T=)
c.4881+46T= (n.4881+46T=)
c.2631+46T= (n.2631+46T=)
c.3594+46T= (n.3594+46T=)
1g.197090804A>TCA1308906ASPMn.2923+46T>A
c.9636+46T>A (n.9636+46T>A)
c.9858+46T>A (n.9858+46T>A)
c.9612+46T>A (n.9612+46T>A)
c.4881+46T>A (n.4881+46T>A)
c.2631+46T>A (n.2631+46T>A)
c.3594+46T>A (n.3594+46T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090804_197090805delinsATCA1217925599ASPMn.2923+45_2923+46delinsAT
c.9636+45_9636+46delinsAT (n.9636+45_9636+46delinsAT)
c.9858+45_9858+46delinsAT (n.9858+45_9858+46delinsAT)
c.9612+45_9612+46delinsAT (n.9612+45_9612+46delinsAT)
c.4881+45_4881+46delinsAT (n.4881+45_4881+46delinsAT)
c.2631+45_2631+46delinsAT (n.2631+45_2631+46delinsAT)
c.3594+45_3594+46delinsAT (n.3594+45_3594+46delinsAT)
1g.197090806delCA1308907ASPMn.2923+45del
c.9636+45del (n.9636+45del)
c.9858+45del (n.9858+45del)
c.9612+45del (n.9612+45del)
c.4881+45del (n.4881+45del)
c.2631+45del (n.2631+45del)
c.3594+45del (n.3594+45del)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090806T>GCA729742692ASPMn.2923+44A>C
c.9636+44A>C (n.9636+44A>C)
c.9858+44A>C (n.9858+44A>C)
c.9612+44A>C (n.9612+44A>C)
c.4881+44A>C (n.4881+44A>C)
c.2631+44A>C (n.2631+44A>C)
c.3594+44A>C (n.3594+44A>C)
dbSNP gnomAD v3 gnomAD v4
1g.197090806T=CA1217925603ASPMn.2923+44A=
c.9636+44A= (n.9636+44A=)
c.9858+44A= (n.9858+44A=)
c.9612+44A= (n.9612+44A=)
c.4881+44A= (n.4881+44A=)
c.2631+44A= (n.2631+44A=)
c.3594+44A= (n.3594+44A=)
1g.197090807G>ACA1308908ASPMn.2923+43C>T
c.9636+43C>T (n.9636+43C>T)
c.9858+43C>T (n.9858+43C>T)
c.9612+43C>T (n.9612+43C>T)
c.4881+43C>T (n.4881+43C>T)
c.2631+43C>T (n.2631+43C>T)
c.3594+43C>T (n.3594+43C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090807G>CCA2649660842ASPMn.2923+43C>G
c.9636+43C>G (n.9636+43C>G)
c.9858+43C>G (n.9858+43C>G)
c.9612+43C>G (n.9612+43C>G)
c.4881+43C>G (n.4881+43C>G)
c.2631+43C>G (n.2631+43C>G)
c.3594+43C>G (n.3594+43C>G)
gnomAD v4
1g.197090807G=CA1217925605ASPMn.2923+43C=
c.9636+43C= (n.9636+43C=)
c.9858+43C= (n.9858+43C=)
c.9612+43C= (n.9612+43C=)
c.4881+43C= (n.4881+43C=)
c.2631+43C= (n.2631+43C=)
c.3594+43C= (n.3594+43C=)
1g.197090807G>TCA2573973985ASPMn.2923+43C>A
c.9636+43C>A (n.9636+43C>A)
c.9858+43C>A (n.9858+43C>A)
c.9612+43C>A (n.9612+43C>A)
c.4881+43C>A (n.4881+43C>A)
c.2631+43C>A (n.2631+43C>A)
c.3594+43C>A (n.3594+43C>A)
gnomAD v4
1g.197090807_197090808delCA2546421844ASPMn.2923+42_2923+43del
c.9636+42_9636+43del (n.9636+42_9636+43del)
c.9858+42_9858+43del (n.9858+42_9858+43del)
c.9612+42_9612+43del (n.9612+42_9612+43del)
c.4881+42_4881+43del (n.4881+42_4881+43del)
c.2631+42_2631+43del (n.2631+42_2631+43del)
c.3594+42_3594+43del (n.3594+42_3594+43del)
1g.197090808C=CA1217925607ASPMn.2923+42G=
c.9636+42G= (n.9636+42G=)
c.9858+42G= (n.9858+42G=)
c.9612+42G= (n.9612+42G=)
c.4881+42G= (n.4881+42G=)
c.2631+42G= (n.2631+42G=)
c.3594+42G= (n.3594+42G=)
1g.197090808C>GCA1308909ASPMn.2923+42G>C
c.9636+42G>C (n.9636+42G>C)
c.9858+42G>C (n.9858+42G>C)
c.9612+42G>C (n.9612+42G>C)
c.4881+42G>C (n.4881+42G>C)
c.2631+42G>C (n.2631+42G>C)
c.3594+42G>C (n.3594+42G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090808C>TCA2649660843ASPMn.2923+42G>A
c.9636+42G>A (n.9636+42G>A)
c.9858+42G>A (n.9858+42G>A)
c.9612+42G>A (n.9612+42G>A)
c.4881+42G>A (n.4881+42G>A)
c.2631+42G>A (n.2631+42G>A)
c.3594+42G>A (n.3594+42G>A)
gnomAD v4
1g.197090809A>TCA2747239587ASPMn.2923+41T>A
c.9636+41T>A (n.9636+41T>A)
c.9858+41T>A (n.9858+41T>A)
c.9612+41T>A (n.9612+41T>A)
c.4881+41T>A (n.4881+41T>A)
c.2631+41T>A (n.2631+41T>A)
c.3594+41T>A (n.3594+41T>A)
1g.197090810A>GCA2649660844ASPMn.2923+40T>C
c.9636+40T>C (n.9636+40T>C)
c.9858+40T>C (n.9858+40T>C)
c.9612+40T>C (n.9612+40T>C)
c.4881+40T>C (n.4881+40T>C)
c.2631+40T>C (n.2631+40T>C)
c.3594+40T>C (n.3594+40T>C)
gnomAD v4
1g.197090811A=CA1217925609ASPMn.2923+39T=
c.9636+39T= (n.9636+39T=)
c.9858+39T= (n.9858+39T=)
c.9612+39T= (n.9612+39T=)
c.4881+39T= (n.4881+39T=)
c.2631+39T= (n.2631+39T=)
c.3594+39T= (n.3594+39T=)
1g.197090811A>GCA528279153ASPMn.2923+39T>C
c.9636+39T>C (n.9636+39T>C)
c.9858+39T>C (n.9858+39T>C)
c.9612+39T>C (n.9612+39T>C)
c.4881+39T>C (n.4881+39T>C)
c.2631+39T>C (n.2631+39T>C)
c.3594+39T>C (n.3594+39T>C)
dbSNP gnomAD v2 gnomAD v4
1g.197090812C>ACA528279154ASPMn.2923+38G>T
c.9636+38G>T (n.9636+38G>T)
c.9858+38G>T (n.9858+38G>T)
c.9612+38G>T (n.9612+38G>T)
c.4881+38G>T (n.4881+38G>T)
c.2631+38G>T (n.2631+38G>T)
c.3594+38G>T (n.3594+38G>T)
dbSNP gnomAD v2 gnomAD v4
1g.197090812C=CA1217925611ASPMn.2923+38G=
c.9636+38G= (n.9636+38G=)
c.9858+38G= (n.9858+38G=)
c.9612+38G= (n.9612+38G=)
c.4881+38G= (n.4881+38G=)
c.2631+38G= (n.2631+38G=)
c.3594+38G= (n.3594+38G=)
1g.197090812_197090813delCA2551520116ASPMn.2923+37_2923+38del
c.9636+37_9636+38del (n.9636+37_9636+38del)
c.9858+37_9858+38del (n.9858+37_9858+38del)
c.9612+37_9612+38del (n.9612+37_9612+38del)
c.4881+37_4881+38del (n.4881+37_4881+38del)
c.2631+37_2631+38del (n.2631+37_2631+38del)
c.3594+37_3594+38del (n.3594+37_3594+38del)
1g.197090813T>CCA2649660845ASPMn.2923+37A>G
c.9636+37A>G (n.9636+37A>G)
c.9858+37A>G (n.9858+37A>G)
c.9612+37A>G (n.9612+37A>G)
c.4881+37A>G (n.4881+37A>G)
c.2631+37A>G (n.2631+37A>G)
c.3594+37A>G (n.3594+37A>G)
gnomAD v4
1g.197090814A=CA1217925614ASPMn.2923+36T=
c.9636+36T= (n.9636+36T=)
c.9858+36T= (n.9858+36T=)
c.9612+36T= (n.9612+36T=)
c.4881+36T= (n.4881+36T=)
c.2631+36T= (n.2631+36T=)
c.3594+36T= (n.3594+36T=)
1g.197090814A>CCA729742707ASPMn.2923+36T>G
c.9636+36T>G (n.9636+36T>G)
c.9858+36T>G (n.9858+36T>G)
c.9612+36T>G (n.9612+36T>G)
c.4881+36T>G (n.4881+36T>G)
c.2631+36T>G (n.2631+36T>G)
c.3594+36T>G (n.3594+36T>G)
dbSNP
1g.197090814A>GCA1217925616ASPMn.2923+36T>C
c.9636+36T>C (n.9636+36T>C)
c.9858+36T>C (n.9858+36T>C)
c.9612+36T>C (n.9612+36T>C)
c.4881+36T>C (n.4881+36T>C)
c.2631+36T>C (n.2631+36T>C)
c.3594+36T>C (n.3594+36T>C)
dbSNP gnomAD v4
1g.197090815_197090816delCA2649660846ASPMn.2923+35_2923+36del
c.9636+35_9636+36del (n.9636+35_9636+36del)
c.9858+35_9858+36del (n.9858+35_9858+36del)
c.9612+35_9612+36del (n.9612+35_9612+36del)
c.4881+35_4881+36del (n.4881+35_4881+36del)
c.2631+35_2631+36del (n.2631+35_2631+36del)
c.3594+35_3594+36del (n.3594+35_3594+36del)
gnomAD v4
1g.197090815A=CA1217925618ASPMn.2923+35T=
c.9636+35T= (n.9636+35T=)
c.9858+35T= (n.9858+35T=)
c.9612+35T= (n.9612+35T=)
c.4881+35T= (n.4881+35T=)
c.2631+35T= (n.2631+35T=)
c.3594+35T= (n.3594+35T=)
1g.197090815A>CCA1217925617ASPMn.2923+35T>G
c.9636+35T>G (n.9636+35T>G)
c.9858+35T>G (n.9858+35T>G)
c.9612+35T>G (n.9612+35T>G)
c.4881+35T>G (n.4881+35T>G)
c.2631+35T>G (n.2631+35T>G)
c.3594+35T>G (n.3594+35T>G)
dbSNP
1g.197090815A>GCA2649660847ASPMn.2923+35T>C
c.9636+35T>C (n.9636+35T>C)
c.9858+35T>C (n.9858+35T>C)
c.9612+35T>C (n.9612+35T>C)
c.4881+35T>C (n.4881+35T>C)
c.2631+35T>C (n.2631+35T>C)
c.3594+35T>C (n.3594+35T>C)
gnomAD v4
1g.197090816A>GCA2573973990ASPMn.2923+34T>C
c.9636+34T>C (n.9636+34T>C)
c.9858+34T>C (n.9858+34T>C)
c.9612+34T>C (n.9612+34T>C)
c.4881+34T>C (n.4881+34T>C)
c.2631+34T>C (n.2631+34T>C)
c.3594+34T>C (n.3594+34T>C)
1g.197090817G>CCA729742709ASPMn.2923+33C>G
c.9636+33C>G (n.9636+33C>G)
c.9858+33C>G (n.9858+33C>G)
c.9612+33C>G (n.9612+33C>G)
c.4881+33C>G (n.4881+33C>G)
c.2631+33C>G (n.2631+33C>G)
c.3594+33C>G (n.3594+33C>G)
dbSNP
1g.197090817G=CA1217925620ASPMn.2923+33C=
c.9636+33C= (n.9636+33C=)
c.9858+33C= (n.9858+33C=)
c.9612+33C= (n.9612+33C=)
c.4881+33C= (n.4881+33C=)
c.2631+33C= (n.2631+33C=)
c.3594+33C= (n.3594+33C=)
1g.197090817G>TCA2649660848ASPMn.2923+33C>A
c.9636+33C>A (n.9636+33C>A)
c.9858+33C>A (n.9858+33C>A)
c.9612+33C>A (n.9612+33C>A)
c.4881+33C>A (n.4881+33C>A)
c.2631+33C>A (n.2631+33C>A)
c.3594+33C>A (n.3594+33C>A)
gnomAD v4
1g.197090820T>ACA729742712ASPMn.2923+30A>T
c.9636+30A>T (n.9636+30A>T)
c.9858+30A>T (n.9858+30A>T)
c.9612+30A>T (n.9612+30A>T)
c.4881+30A>T (n.4881+30A>T)
c.2631+30A>T (n.2631+30A>T)
c.3594+30A>T (n.3594+30A>T)
dbSNP gnomAD v3 gnomAD v4
1g.197090820T=CA1217925621ASPMn.2923+30A=
c.9636+30A= (n.9636+30A=)
c.9858+30A= (n.9858+30A=)
c.9612+30A= (n.9612+30A=)
c.4881+30A= (n.4881+30A=)
c.2631+30A= (n.2631+30A=)
c.3594+30A= (n.3594+30A=)
1g.197090821T>CCA1010898477ASPMn.2923+29A>G
c.9636+29A>G (n.9636+29A>G)
c.9858+29A>G (n.9858+29A>G)
c.9612+29A>G (n.9612+29A>G)
c.4881+29A>G (n.4881+29A>G)
c.2631+29A>G (n.2631+29A>G)
c.3594+29A>G (n.3594+29A>G)
dbSNP gnomAD v3 gnomAD v4
1g.197090821T=CA1217925622ASPMn.2923+29A=
c.9636+29A= (n.9636+29A=)
c.9858+29A= (n.9858+29A=)
c.9612+29A= (n.9612+29A=)
c.4881+29A= (n.4881+29A=)
c.2631+29A= (n.2631+29A=)
c.3594+29A= (n.3594+29A=)
1g.197090822G>CCA1217925623ASPMn.2923+28C>G
c.9636+28C>G (n.9636+28C>G)
c.9858+28C>G (n.9858+28C>G)
c.9612+28C>G (n.9612+28C>G)
c.4881+28C>G (n.4881+28C>G)
c.2631+28C>G (n.2631+28C>G)
c.3594+28C>G (n.3594+28C>G)
dbSNP gnomAD v4
1g.197090822G=CA1217925624ASPMn.2923+28C=
c.9636+28C= (n.9636+28C=)
c.9858+28C= (n.9858+28C=)
c.9612+28C= (n.9612+28C=)
c.4881+28C= (n.4881+28C=)
c.2631+28C= (n.2631+28C=)
c.3594+28C= (n.3594+28C=)
1g.197090822G>TCA2649660849ASPMn.2923+28C>A
c.9636+28C>A (n.9636+28C>A)
c.9858+28C>A (n.9858+28C>A)
c.9612+28C>A (n.9612+28C>A)
c.4881+28C>A (n.4881+28C>A)
c.2631+28C>A (n.2631+28C>A)
c.3594+28C>A (n.3594+28C>A)
gnomAD v4
1g.197090828_197090833dupCA1308910ASPMn.2923+22_2923+27dup
c.9636+22_9636+27dup (n.9636+22_9636+27dup)
c.9858+22_9858+27dup (n.9858+22_9858+27dup)
c.9612+22_9612+27dup (n.9612+22_9612+27dup)
c.4881+22_4881+27dup (n.4881+22_4881+27dup)
c.2631+22_2631+27dup (n.2631+22_2631+27dup)
c.3594+22_3594+27dup (n.3594+22_3594+27dup)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090825C>GCA2606710849ASPMn.2923+25G>C
c.9636+25G>C (n.9636+25G>C)
c.9858+25G>C (n.9858+25G>C)
c.9612+25G>C (n.9612+25G>C)
c.4881+25G>C (n.4881+25G>C)
c.2631+25G>C (n.2631+25G>C)
c.3594+25G>C (n.3594+25G>C)
dbSNP gnomAD v3 gnomAD v4
1g.197090825C>TCA2649660850ASPMn.2923+25G>A
c.9636+25G>A (n.9636+25G>A)
c.9858+25G>A (n.9858+25G>A)
c.9612+25G>A (n.9612+25G>A)
c.4881+25G>A (n.4881+25G>A)
c.2631+25G>A (n.2631+25G>A)
c.3594+25G>A (n.3594+25G>A)
gnomAD v4
1g.197090827A=CA1149107474ASPMn.2923+23T=
c.9636+23T= (n.9636+23T=)
c.9858+23T= (n.9858+23T=)
c.9612+23T= (n.9612+23T=)
c.4881+23T= (n.4881+23T=)
c.2631+23T= (n.2631+23T=)
c.3594+23T= (n.3594+23T=)
1g.197090827A>GCA1308911ASPMn.2923+23T>C
c.9636+23T>C (n.9636+23T>C)
c.9858+23T>C (n.9858+23T>C)
c.9612+23T>C (n.9612+23T>C)
c.4881+23T>C (n.4881+23T>C)
c.2631+23T>C (n.2631+23T>C)
c.3594+23T>C (n.3594+23T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090830delCA2649660851ASPMn.2923+23del
c.9636+23del (n.9636+23del)
c.9858+23del (n.9858+23del)
c.9612+23del (n.9612+23del)
c.4881+23del (n.4881+23del)
c.2631+23del (n.2631+23del)
c.3594+23del (n.3594+23del)
gnomAD v4
1g.197090828A=CA1217925627ASPMn.2923+22T=
c.9636+22T= (n.9636+22T=)
c.9858+22T= (n.9858+22T=)
c.9612+22T= (n.9612+22T=)
c.4881+22T= (n.4881+22T=)
c.2631+22T= (n.2631+22T=)
c.3594+22T= (n.3594+22T=)
1g.197090828A>GCA2649660852ASPMn.2923+22T>C
c.9636+22T>C (n.9636+22T>C)
c.9858+22T>C (n.9858+22T>C)
c.9612+22T>C (n.9612+22T>C)
c.4881+22T>C (n.4881+22T>C)
c.2631+22T>C (n.2631+22T>C)
c.3594+22T>C (n.3594+22T>C)
gnomAD v4
1g.197090828A>TCA35862162ASPMn.2923+22T>A
c.9636+22T>A (n.9636+22T>A)
c.9858+22T>A (n.9858+22T>A)
c.9612+22T>A (n.9612+22T>A)
c.4881+22T>A (n.4881+22T>A)
c.2631+22T>A (n.2631+22T>A)
c.3594+22T>A (n.3594+22T>A)
dbSNP gnomAD v3 gnomAD v4
1g.197090829A=CA1217925628ASPMn.2923+21T=
c.9636+21T= (n.9636+21T=)
c.9858+21T= (n.9858+21T=)
c.9612+21T= (n.9612+21T=)
c.4881+21T= (n.4881+21T=)
c.2631+21T= (n.2631+21T=)
c.3594+21T= (n.3594+21T=)
1g.197090829A>TCA528535100ASPMn.2923+21T>A
c.9636+21T>A (n.9636+21T>A)
c.9858+21T>A (n.9858+21T>A)
c.9612+21T>A (n.9612+21T>A)
c.4881+21T>A (n.4881+21T>A)
c.2631+21T>A (n.2631+21T>A)
c.3594+21T>A (n.3594+21T>A)
dbSNP gnomAD v2
1g.197090830A>TCA2573974000ASPMn.2923+20T>A
c.9636+20T>A (n.9636+20T>A)
c.9858+20T>A (n.9858+20T>A)
c.9612+20T>A (n.9612+20T>A)
c.4881+20T>A (n.4881+20T>A)
c.2631+20T>A (n.2631+20T>A)
c.3594+20T>A (n.3594+20T>A)
1g.197090831C>TCA2580061802ASPMn.2923+19G>A
c.9636+19G>A (n.9636+19G>A)
c.9858+19G>A (n.9858+19G>A)
c.9612+19G>A (n.9612+19G>A)
c.4881+19G>A (n.4881+19G>A)
c.2631+19G>A (n.2631+19G>A)
c.3594+19G>A (n.3594+19G>A)
ClinVar gnomAD v4
1g.197090834T>CCA35862163ASPMn.2923+16A>G
c.9636+16A>G (n.9636+16A>G)
c.9858+16A>G (n.9858+16A>G)
c.9612+16A>G (n.9612+16A>G)
c.4881+16A>G (n.4881+16A>G)
c.2631+16A>G (n.2631+16A>G)
c.3594+16A>G (n.3594+16A>G)
dbSNP gnomAD v2 gnomAD v4
1g.197090834T=CA1217925630ASPMn.2923+16A=
c.9636+16A= (n.9636+16A=)
c.9858+16A= (n.9858+16A=)
c.9612+16A= (n.9612+16A=)
c.4881+16A= (n.4881+16A=)
c.2631+16A= (n.2631+16A=)
c.3594+16A= (n.3594+16A=)
1g.197090835A=CA1217925633ASPMn.2923+15T=
c.9636+15T= (n.9636+15T=)
c.9858+15T= (n.9858+15T=)
c.9612+15T= (n.9612+15T=)
c.4881+15T= (n.4881+15T=)
c.2631+15T= (n.2631+15T=)
c.3594+15T= (n.3594+15T=)
1g.197090835A>GCA645856952ASPMn.2923+15T>C
c.9636+15T>C (n.9636+15T>C)
c.9858+15T>C (n.9858+15T>C)
c.9612+15T>C (n.9612+15T>C)
c.4881+15T>C (n.4881+15T>C)
c.2631+15T>C (n.2631+15T>C)
c.3594+15T>C (n.3594+15T>C)
dbSNP gnomAD v4 COSMIC
1g.197090835_197090842delinsACAAGTTTCA1217925632ASPMn.2923+8_2923+15delinsAAACTTGT
c.9636+8_9636+15delinsAAACTTGT (n.9636+8_9636+15delinsAAACTTGT)
c.9858+8_9858+15delinsAAACTTGT (n.9858+8_9858+15delinsAAACTTGT)
c.9612+8_9612+15delinsAAACTTGT (n.9612+8_9612+15delinsAAACTTGT)
c.4881+8_4881+15delinsAAACTTGT (n.4881+8_4881+15delinsAAACTTGT)
c.2631+8_2631+15delinsAAACTTGT (n.2631+8_2631+15delinsAAACTTGT)
c.3594+8_3594+15delinsAAACTTGT (n.3594+8_3594+15delinsAAACTTGT)
1g.197090836C>ACA2649660853ASPMn.2923+14G>T
c.9636+14G>T (n.9636+14G>T)
c.9858+14G>T (n.9858+14G>T)
c.9612+14G>T (n.9612+14G>T)
c.4881+14G>T (n.4881+14G>T)
c.2631+14G>T (n.2631+14G>T)
c.3594+14G>T (n.3594+14G>T)
gnomAD v4
1g.197090836C=CA1217925635ASPMn.2923+14G=
c.9636+14G= (n.9636+14G=)
c.9858+14G= (n.9858+14G=)
c.9612+14G= (n.9612+14G=)
c.4881+14G= (n.4881+14G=)
c.2631+14G= (n.2631+14G=)
c.3594+14G= (n.3594+14G=)
1g.197090836C>TCA528535102ASPMn.2923+14G>A
c.9636+14G>A (n.9636+14G>A)
c.9858+14G>A (n.9858+14G>A)
c.9612+14G>A (n.9612+14G>A)
c.4881+14G>A (n.4881+14G>A)
c.2631+14G>A (n.2631+14G>A)
c.3594+14G>A (n.3594+14G>A)
gnomAD v2 gnomAD v4
1g.197090839_197090845delCA528535101ASPMn.2923+8_2923+14del
c.9636+8_9636+14del (n.9636+8_9636+14del)
c.9858+8_9858+14del (n.9858+8_9858+14del)
c.9612+8_9612+14del (n.9612+8_9612+14del)
c.4881+8_4881+14del (n.4881+8_4881+14del)
c.2631+8_2631+14del (n.2631+8_2631+14del)
c.3594+8_3594+14del (n.3594+8_3594+14del)
dbSNP gnomAD v2 gnomAD v4
1g.197090837_197090838dupCA1308912ASPMn.2923+12_2923+13dup
c.9636+12_9636+13dup (n.9636+12_9636+13dup)
c.9858+12_9858+13dup (n.9858+12_9858+13dup)
c.9612+12_9612+13dup (n.9612+12_9612+13dup)
c.4881+12_4881+13dup (n.4881+12_4881+13dup)
c.2631+12_2631+13dup (n.2631+12_2631+13dup)
c.3594+12_3594+13dup (n.3594+12_3594+13dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090838A>TCA2649660854ASPMn.2923+12T>A
c.9636+12T>A (n.9636+12T>A)
c.9858+12T>A (n.9858+12T>A)
c.9612+12T>A (n.9612+12T>A)
c.4881+12T>A (n.4881+12T>A)
c.2631+12T>A (n.2631+12T>A)
c.3594+12T>A (n.3594+12T>A)
gnomAD v4
1g.197090839G>CCA2573974010ASPMn.2923+11C>G
c.9636+11C>G (n.9636+11C>G)
c.9858+11C>G (n.9858+11C>G)
c.9612+11C>G (n.9612+11C>G)
c.4881+11C>G (n.4881+11C>G)
c.2631+11C>G (n.2631+11C>G)
c.3594+11C>G (n.3594+11C>G)
1g.197090839G>TCA2649660855ASPMn.2923+11C>A
c.9636+11C>A (n.9636+11C>A)
c.9858+11C>A (n.9858+11C>A)
c.9612+11C>A (n.9612+11C>A)
c.4881+11C>A (n.4881+11C>A)
c.2631+11C>A (n.2631+11C>A)
c.3594+11C>A (n.3594+11C>A)
gnomAD v4
1g.197090841T>GCA528535103ASPMn.2923+9A>C
c.9636+9A>C (n.9636+9A>C)
c.9858+9A>C (n.9858+9A>C)
c.9612+9A>C (n.9612+9A>C)
c.4881+9A>C (n.4881+9A>C)
c.2631+9A>C (n.2631+9A>C)
c.3594+9A>C (n.3594+9A>C)
dbSNP gnomAD v2 gnomAD v4
1g.197090841T=CA1217925639ASPMn.2923+9A=
c.9636+9A= (n.9636+9A=)
c.9858+9A= (n.9858+9A=)
c.9612+9A= (n.9612+9A=)
c.4881+9A= (n.4881+9A=)
c.2631+9A= (n.2631+9A=)
c.3594+9A= (n.3594+9A=)
1g.197090843C=CA1217925641ASPMn.2923+7G=
c.9636+7G= (n.9636+7G=)
c.9858+7G= (n.9858+7G=)
c.9612+7G= (n.9612+7G=)
c.4881+7G= (n.4881+7G=)
c.2631+7G= (n.2631+7G=)
c.3594+7G= (n.3594+7G=)
1g.197090843C>TCA1217925642ASPMn.2923+7G>A
c.9636+7G>A (n.9636+7G>A)
c.9858+7G>A (n.9858+7G>A)
c.9612+7G>A (n.9612+7G>A)
c.4881+7G>A (n.4881+7G>A)
c.2631+7G>A (n.2631+7G>A)
c.3594+7G>A (n.3594+7G>A)
dbSNP gnomAD v4
1g.197090846T>CCA645369170ASPMn.2923+4A>G
c.9636+4A>G (n.9636+4A>G)
c.9858+4A>G (n.9858+4A>G)
c.9612+4A>G (n.9612+4A>G)
c.4881+4A>G (n.4881+4A>G)
c.2631+4A>G (n.2631+4A>G)
c.3594+4A>G (n.3594+4A>G)
ClinVar dbSNP gnomAD v4
1g.197090846T=CA1217925646ASPMn.2923+4A=
c.9636+4A= (n.9636+4A=)
c.9858+4A= (n.9858+4A=)
c.9612+4A= (n.9612+4A=)
c.4881+4A= (n.4881+4A=)
c.2631+4A= (n.2631+4A=)
c.3594+4A= (n.3594+4A=)
1g.197090847T>CCA2649660856ASPMn.2923+3A>G
c.9636+3A>G (n.9636+3A>G)
c.9858+3A>G (n.9858+3A>G)
c.9612+3A>G (n.9612+3A>G)
c.4881+3A>G (n.4881+3A>G)
c.2631+3A>G (n.2631+3A>G)
c.3594+3A>G (n.3594+3A>G)
gnomAD v4
1g.197090847T>GCA1010898485ASPMn.2923+3A>C
c.9636+3A>C (n.9636+3A>C)
c.9858+3A>C (n.9858+3A>C)
c.9612+3A>C (n.9612+3A>C)
c.4881+3A>C (n.4881+3A>C)
c.2631+3A>C (n.2631+3A>C)
c.3594+3A>C (n.3594+3A>C)
dbSNP gnomAD v3 gnomAD v4
1g.197090847T=CA1217925648ASPMn.2923+3A=
c.9636+3A= (n.9636+3A=)
c.9858+3A= (n.9858+3A=)
c.9612+3A= (n.9612+3A=)
c.4881+3A= (n.4881+3A=)
c.2631+3A= (n.2631+3A=)
c.3594+3A= (n.3594+3A=)
1g.197090848A>CCA344002224ASPMn.2923+2T>G
c.9636+2T>G (n.9636+2T>G)
c.9858+2T>G (n.9858+2T>G)
c.9612+2T>G (n.9612+2T>G)
c.4881+2T>G (n.4881+2T>G)
c.2631+2T>G (n.2631+2T>G)
c.3594+2T>G (n.3594+2T>G)
1g.197090848A>GCA344002227ASPMn.2923+2T>C
c.9636+2T>C (n.9636+2T>C)
c.9858+2T>C (n.9858+2T>C)
c.9612+2T>C (n.9612+2T>C)
c.4881+2T>C (n.4881+2T>C)
c.2631+2T>C (n.2631+2T>C)
c.3594+2T>C (n.3594+2T>C)
1g.197090848A>TCA344002229ASPMn.2923+2T>A
c.9636+2T>A (n.9636+2T>A)
c.9858+2T>A (n.9858+2T>A)
c.9612+2T>A (n.9612+2T>A)
c.4881+2T>A (n.4881+2T>A)
c.2631+2T>A (n.2631+2T>A)
c.3594+2T>A (n.3594+2T>A)
1g.197090849C>ACA344002232ASPMn.2923+1G>T
c.9636+1G>T (n.9636+1G>T)
c.9858+1G>T (n.9858+1G>T)
c.9612+1G>T (n.9612+1G>T)
c.4881+1G>T (n.4881+1G>T)
c.2631+1G>T (n.2631+1G>T)
c.3594+1G>T (n.3594+1G>T)
gnomAD v4
1g.197090849C>GCA344002236ASPMn.2923+1G>C
c.9636+1G>C (n.9636+1G>C)
c.9858+1G>C (n.9858+1G>C)
c.9612+1G>C (n.9612+1G>C)
c.4881+1G>C (n.4881+1G>C)
c.2631+1G>C (n.2631+1G>C)
c.3594+1G>C (n.3594+1G>C)
1g.197090849C>TCA344002234ASPMn.2923+1G>A
c.9636+1G>A (n.9636+1G>A)
c.9858+1G>A (n.9858+1G>A)
c.9612+1G>A (n.9612+1G>A)
c.4881+1G>A (n.4881+1G>A)
c.2631+1G>A (n.2631+1G>A)
c.3594+1G>A (n.3594+1G>A)
gnomAD v4
1g.197090850C>ACA344002238ASPMn.2923G>T
c.9636G>T (p.Gln3212His)
c.9858G>T (p.Gln3286His)
c.9612G>T (p.Gln3204His)
c.4881G>T (p.Gln1627His)
c.2631G>T (p.Gln877His)
c.3594G>T (p.Gln1198His)
gnomAD v4
1g.197090850C=CA1144106692ASPMn.2923G=
c.9636G= (p.Gln3212=)
c.9858G= (p.Gln3286=)
c.9612G= (p.Gln3204=)
c.4881G= (p.Gln1627=)
c.2631G= (p.Gln877=)
c.3594G= (p.Gln1198=)
1g.197090850C>GCA344002239ASPMn.2923G>C
c.9636G>C (p.Gln3212His)
c.9858G>C (p.Gln3286His)
c.9612G>C (p.Gln3204His)
c.4881G>C (p.Gln1627His)
c.2631G>C (p.Gln877His)
c.3594G>C (p.Gln1198His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090850C>TCA35862165ASPMn.2923G>A
c.9636G>A (p.Gln3212=)
c.9858G>A (p.Gln3286=)
c.9612G>A (p.Gln3204=)
c.4881G>A (p.Gln1627=)
c.2631G>A (p.Gln877=)
c.3594G>A (p.Gln1198=)
dbSNP gnomAD v4
1g.197090851T>ACA344002242ASPMn.2922A>T
c.9635A>T (p.Gln3212Leu)
c.9857A>T (p.Gln3286Leu)
c.9611A>T (p.Gln3204Leu)
c.4880A>T (p.Gln1627Leu)
c.2630A>T (p.Gln877Leu)
c.3593A>T (p.Gln1198Leu)
1g.197090851T>CCA344002245ASPMn.2922A>G
c.9635A>G (p.Gln3212Arg)
c.9857A>G (p.Gln3286Arg)
c.9611A>G (p.Gln3204Arg)
c.4880A>G (p.Gln1627Arg)
c.2630A>G (p.Gln877Arg)
c.3593A>G (p.Gln1198Arg)
1g.197090851T>GCA344002246ASPMn.2922A>C
c.9635A>C (p.Gln3212Pro)
c.9857A>C (p.Gln3286Pro)
c.9611A>C (p.Gln3204Pro)
c.4880A>C (p.Gln1627Pro)
c.2630A>C (p.Gln877Pro)
c.3593A>C (p.Gln1198Pro)
1g.197090852G>ACA344002250ASPMn.2921C>T
c.9634C>T (p.Gln3212Ter)
c.9856C>T (p.Gln3286Ter)
c.9610C>T (p.Gln3204Ter)
c.4879C>T (p.Gln1627Ter)
c.2629C>T (p.Gln877Ter)
c.3592C>T (p.Gln1198Ter)
1g.197090852G>CCA344002252ASPMn.2921C>G
c.9634C>G (p.Gln3212Glu)
c.9856C>G (p.Gln3286Glu)
c.9610C>G (p.Gln3204Glu)
c.4879C>G (p.Gln1627Glu)
c.2629C>G (p.Gln877Glu)
c.3592C>G (p.Gln1198Glu)
dbSNP gnomAD v2 gnomAD v4
1g.197090852G=CA1217925656ASPMn.2921C=
c.9634C= (p.Gln3212=)
c.9856C= (p.Gln3286=)
c.9610C= (p.Gln3204=)
c.4879C= (p.Gln1627=)
c.2629C= (p.Gln877=)
c.3592C= (p.Gln1198=)
1g.197090852G>TCA344002255ASPMn.2921C>A
c.9634C>A (p.Gln3212Lys)
c.9856C>A (p.Gln3286Lys)
c.9610C>A (p.Gln3204Lys)
c.4879C>A (p.Gln1627Lys)
c.2629C>A (p.Gln877Lys)
c.3592C>A (p.Gln1198Lys)
1g.197090853A>CCA344002257ASPMn.2920T>G
c.9633T>G (p.Ile3211Met)
c.9855T>G (p.Ile3285Met)
c.9609T>G (p.Ile3203Met)
c.4878T>G (p.Ile1626Met)
c.2628T>G (p.Ile876Met)
c.3591T>G (p.Ile1197Met)
1g.197090853A>GCA422672394ASPMn.2920T>C
c.9633T>C (p.Ile3211=)
c.9855T>C (p.Ile3285=)
c.9609T>C (p.Ile3203=)
c.4878T>C (p.Ile1626=)
c.2628T>C (p.Ile876=)
c.3591T>C (p.Ile1197=)
COSMIC
1g.197090853A>TCA422672395ASPMn.2920T>A
c.9633T>A (p.Ile3211=)
c.9855T>A (p.Ile3285=)
c.9609T>A (p.Ile3203=)
c.4878T>A (p.Ile1626=)
c.2628T>A (p.Ile876=)
c.3591T>A (p.Ile1197=)
1g.197090854A=CA1217925658ASPMn.2919T=
c.9632T= (p.Ile3211=)
c.9854T= (p.Ile3285=)
c.9608T= (p.Ile3203=)
c.4877T= (p.Ile1626=)
c.2627T= (p.Ile876=)
c.3590T= (p.Ile1197=)
1g.197090854A>CCA344002262ASPMn.2919T>G
c.9632T>G (p.Ile3211Ser)
c.9854T>G (p.Ile3285Ser)
c.9608T>G (p.Ile3203Ser)
c.4877T>G (p.Ile1626Ser)
c.2627T>G (p.Ile876Ser)
c.3590T>G (p.Ile1197Ser)
1g.197090854A>GCA344002264ASPMn.2919T>C
c.9632T>C (p.Ile3211Thr)
c.9854T>C (p.Ile3285Thr)
c.9608T>C (p.Ile3203Thr)
c.4877T>C (p.Ile1626Thr)
c.2627T>C (p.Ile876Thr)
c.3590T>C (p.Ile1197Thr)
gnomAD v4
1g.197090854A>TCA344002260ASPMn.2919T>A
c.9632T>A (p.Ile3211Asn)
c.9854T>A (p.Ile3285Asn)
c.9608T>A (p.Ile3203Asn)
c.4877T>A (p.Ile1626Asn)
c.2627T>A (p.Ile876Asn)
c.3590T>A (p.Ile1197Asn)
dbSNP gnomAD v4
1g.197090855T>ACA344002268ASPMn.2918A>T
c.9631A>T (p.Ile3211Phe)
c.9853A>T (p.Ile3285Phe)
c.9607A>T (p.Ile3203Phe)
c.4876A>T (p.Ile1626Phe)
c.2626A>T (p.Ile876Phe)
c.3589A>T (p.Ile1197Phe)
1g.197090855T>CCA344002270ASPMn.2918A>G
c.9631A>G (p.Ile3211Val)
c.9853A>G (p.Ile3285Val)
c.9607A>G (p.Ile3203Val)
c.4876A>G (p.Ile1626Val)
c.2626A>G (p.Ile876Val)
c.3589A>G (p.Ile1197Val)
gnomAD v4
1g.197090855T>GCA344002271ASPMn.2918A>C
c.9631A>C (p.Ile3211Leu)
c.9853A>C (p.Ile3285Leu)
c.9607A>C (p.Ile3203Leu)
c.4876A>C (p.Ile1626Leu)
c.2626A>C (p.Ile876Leu)
c.3589A>C (p.Ile1197Leu)
1g.197090856T>ACA344002272ASPMn.2917A>T
c.9630A>T (p.Lys3210Asn)
c.9852A>T (p.Lys3284Asn)
c.9606A>T (p.Lys3202Asn)
c.4875A>T (p.Lys1625Asn)
c.2625A>T (p.Lys875Asn)
c.3588A>T (p.Lys1196Asn)
1g.197090856T>CCA422672396ASPMn.2917A>G
c.9630A>G (p.Lys3210=)
c.9852A>G (p.Lys3284=)
c.9606A>G (p.Lys3202=)
c.4875A>G (p.Lys1625=)
c.2625A>G (p.Lys875=)
c.3588A>G (p.Lys1196=)
dbSNP
1g.197090856T>GCA344002274ASPMn.2917A>C
c.9630A>C (p.Lys3210Asn)
c.9852A>C (p.Lys3284Asn)
c.9606A>C (p.Lys3202Asn)
c.4875A>C (p.Lys1625Asn)
c.2625A>C (p.Lys875Asn)
c.3588A>C (p.Lys1196Asn)
1g.197090856T=CA1217925661ASPMn.2917A=
c.9630A= (p.Lys3210=)
c.9852A= (p.Lys3284=)
c.9606A= (p.Lys3202=)
c.4875A= (p.Lys1625=)
c.2625A= (p.Lys875=)
c.3588A= (p.Lys1196=)
1g.197090857T>ACA344002276ASPMn.2916A>T
c.9629A>T (p.Lys3210Ile)
c.9851A>T (p.Lys3284Ile)
c.9605A>T (p.Lys3202Ile)
c.4874A>T (p.Lys1625Ile)
c.2624A>T (p.Lys875Ile)
c.3587A>T (p.Lys1196Ile)
1g.197090857T>CCA344002280ASPMn.2916A>G
c.9629A>G (p.Lys3210Arg)
c.9851A>G (p.Lys3284Arg)
c.9605A>G (p.Lys3202Arg)
c.4874A>G (p.Lys1625Arg)
c.2624A>G (p.Lys875Arg)
c.3587A>G (p.Lys1196Arg)
1g.197090857T>GCA344002283ASPMn.2916A>C
c.9629A>C (p.Lys3210Thr)
c.9851A>C (p.Lys3284Thr)
c.9605A>C (p.Lys3202Thr)
c.4874A>C (p.Lys1625Thr)
c.2624A>C (p.Lys875Thr)
c.3587A>C (p.Lys1196Thr)
1g.197090858T>ACA344002285ASPMn.2915A>T
c.9628A>T (p.Lys3210Ter)
c.9850A>T (p.Lys3284Ter)
c.9604A>T (p.Lys3202Ter)
c.4873A>T (p.Lys1625Ter)
c.2623A>T (p.Lys875Ter)
c.3586A>T (p.Lys1196Ter)
1g.197090858T>CCA344002287ASPMn.2915A>G
c.9628A>G (p.Lys3210Glu)
c.9850A>G (p.Lys3284Glu)
c.9604A>G (p.Lys3202Glu)
c.4873A>G (p.Lys1625Glu)
c.2623A>G (p.Lys875Glu)
c.3586A>G (p.Lys1196Glu)
1g.197090858T>GCA344002291ASPMn.2915A>C
c.9628A>C (p.Lys3210Gln)
c.9850A>C (p.Lys3284Gln)
c.9604A>C (p.Lys3202Gln)
c.4873A>C (p.Lys1625Gln)
c.2623A>C (p.Lys875Gln)
c.3586A>C (p.Lys1196Gln)
1g.197090859A>CCA344002294ASPMn.2914T>G
c.9627T>G (p.Ile3209Met)
c.9849T>G (p.Ile3283Met)
c.9603T>G (p.Ile3201Met)
c.4872T>G (p.Ile1624Met)
c.2622T>G (p.Ile874Met)
c.3585T>G (p.Ile1195Met)
1g.197090859A>GCA422672397ASPMn.2914T>C
c.9627T>C (p.Ile3209=)
c.9849T>C (p.Ile3283=)
c.9603T>C (p.Ile3201=)
c.4872T>C (p.Ile1624=)
c.2622T>C (p.Ile874=)
c.3585T>C (p.Ile1195=)
1g.197090859A>TCA422672398ASPMn.2914T>A
c.9627T>A (p.Ile3209=)
c.9849T>A (p.Ile3283=)
c.9603T>A (p.Ile3201=)
c.4872T>A (p.Ile1624=)
c.2622T>A (p.Ile874=)
c.3585T>A (p.Ile1195=)
1g.197090860A=CA1217925665ASPMn.2913T=
c.9626T= (p.Ile3209=)
c.9848T= (p.Ile3283=)
c.9602T= (p.Ile3201=)
c.4871T= (p.Ile1624=)
c.2621T= (p.Ile874=)
c.3584T= (p.Ile1195=)
1g.197090860A>CCA344002297ASPMn.2913T>G
c.9626T>G (p.Ile3209Ser)
c.9848T>G (p.Ile3283Ser)
c.9602T>G (p.Ile3201Ser)
c.4871T>G (p.Ile1624Ser)
c.2621T>G (p.Ile874Ser)
c.3584T>G (p.Ile1195Ser)
1g.197090860A>GCA16603499ASPMn.2913T>C
c.9626T>C (p.Ile3209Thr)
c.9848T>C (p.Ile3283Thr)
c.9602T>C (p.Ile3201Thr)
c.4871T>C (p.Ile1624Thr)
c.2621T>C (p.Ile874Thr)
c.3584T>C (p.Ile1195Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197090860A>TCA344002296ASPMn.2913T>A
c.9626T>A (p.Ile3209Asn)
c.9848T>A (p.Ile3283Asn)
c.9602T>A (p.Ile3201Asn)
c.4871T>A (p.Ile1624Asn)
c.2621T>A (p.Ile874Asn)
c.3584T>A (p.Ile1195Asn)
gnomAD v4
1g.197090861T>ACA344002298ASPMn.2912A>T
c.9625A>T (p.Ile3209Phe)
c.9847A>T (p.Ile3283Phe)
c.9601A>T (p.Ile3201Phe)
c.4870A>T (p.Ile1624Phe)
c.2620A>T (p.Ile874Phe)
c.3583A>T (p.Ile1195Phe)
1g.197090861T>CCA344002300ASPMn.2912A>G
c.9625A>G (p.Ile3209Val)
c.9847A>G (p.Ile3283Val)
c.9601A>G (p.Ile3201Val)
c.4870A>G (p.Ile1624Val)
c.2620A>G (p.Ile874Val)
c.3583A>G (p.Ile1195Val)
gnomAD v4
1g.197090861T>GCA344002301ASPMn.2912A>C
c.9625A>C (p.Ile3209Leu)
c.9847A>C (p.Ile3283Leu)
c.9601A>C (p.Ile3201Leu)
c.4870A>C (p.Ile1624Leu)
c.2620A>C (p.Ile874Leu)
c.3583A>C (p.Ile1195Leu)
1g.197090862G>ACA422672399ASPMn.2911C>T
c.9624C>T (p.Ile3208=)
c.9846C>T (p.Ile3282=)
c.9600C>T (p.Ile3200=)
c.4869C>T (p.Ile1623=)
c.2619C>T (p.Ile873=)
c.3582C>T (p.Ile1194=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090862G>CCA344002304ASPMn.2911C>G
c.9624C>G (p.Ile3208Met)
c.9846C>G (p.Ile3282Met)
c.9600C>G (p.Ile3200Met)
c.4869C>G (p.Ile1623Met)
c.2619C>G (p.Ile873Met)
c.3582C>G (p.Ile1194Met)
1g.197090862G=CA1217925669ASPMn.2911C=
c.9624C= (p.Ile3208=)
c.9846C= (p.Ile3282=)
c.9600C= (p.Ile3200=)
c.4869C= (p.Ile1623=)
c.2619C= (p.Ile873=)
c.3582C= (p.Ile1194=)
1g.197090862G>TCA1308913ASPMn.2911C>A
c.9624C>A (p.Ile3208=)
c.9846C>A (p.Ile3282=)
c.9600C>A (p.Ile3200=)
c.4869C>A (p.Ile1623=)
c.2619C>A (p.Ile873=)
c.3582C>A (p.Ile1194=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090863A>CCA344002314ASPMn.2910T>G
c.9623T>G (p.Ile3208Ser)
c.9845T>G (p.Ile3282Ser)
c.9599T>G (p.Ile3200Ser)
c.4868T>G (p.Ile1623Ser)
c.2618T>G (p.Ile873Ser)
c.3581T>G (p.Ile1194Ser)
1g.197090863A>GCA344002313ASPMn.2910T>C
c.9623T>C (p.Ile3208Thr)
c.9845T>C (p.Ile3282Thr)
c.9599T>C (p.Ile3200Thr)
c.4868T>C (p.Ile1623Thr)
c.2618T>C (p.Ile873Thr)
c.3581T>C (p.Ile1194Thr)
1g.197090863A>TCA344002311ASPMn.2910T>A
c.9623T>A (p.Ile3208Asn)
c.9845T>A (p.Ile3282Asn)
c.9599T>A (p.Ile3200Asn)
c.4868T>A (p.Ile1623Asn)
c.2618T>A (p.Ile873Asn)
c.3581T>A (p.Ile1194Asn)
1g.197090864T>ACA344002315ASPMn.2909A>T
c.9622A>T (p.Ile3208Phe)
c.9844A>T (p.Ile3282Phe)
c.9598A>T (p.Ile3200Phe)
c.4867A>T (p.Ile1623Phe)
c.2617A>T (p.Ile873Phe)
c.3580A>T (p.Ile1194Phe)
1g.197090864T>CCA344002317ASPMn.2909A>G
c.9622A>G (p.Ile3208Val)
c.9844A>G (p.Ile3282Val)
c.9598A>G (p.Ile3200Val)
c.4867A>G (p.Ile1623Val)
c.2617A>G (p.Ile873Val)
c.3580A>G (p.Ile1194Val)
gnomAD v4
1g.197090864T>GCA344002319ASPMn.2909A>C
c.9622A>C (p.Ile3208Leu)
c.9844A>C (p.Ile3282Leu)
c.9598A>C (p.Ile3200Leu)
c.4867A>C (p.Ile1623Leu)
c.2617A>C (p.Ile873Leu)
c.3580A>C (p.Ile1194Leu)
1g.197090865T>ACA422672401ASPMn.2908A>T
c.9621A>T (p.Gly3207=)
c.9843A>T (p.Gly3281=)
c.9597A>T (p.Gly3199=)
c.4866A>T (p.Gly1622=)
c.2616A>T (p.Gly872=)
c.3579A>T (p.Gly1193=)
1g.197090865T>CCA422672402ASPMn.2908A>G
c.9621A>G (p.Gly3207=)
c.9843A>G (p.Gly3281=)
c.9597A>G (p.Gly3199=)
c.4866A>G (p.Gly1622=)
c.2616A>G (p.Gly872=)
c.3579A>G (p.Gly1193=)
dbSNP
1g.197090865T>GCA422672403ASPMn.2908A>C
c.9621A>C (p.Gly3207=)
c.9843A>C (p.Gly3281=)
c.9597A>C (p.Gly3199=)
c.4866A>C (p.Gly1622=)
c.2616A>C (p.Gly872=)
c.3579A>C (p.Gly1193=)
1g.197090865T=CA1217925672ASPMn.2908A=
c.9621A= (p.Gly3207=)
c.9843A= (p.Gly3281=)
c.9597A= (p.Gly3199=)
c.4866A= (p.Gly1622=)
c.2616A= (p.Gly872=)
c.3579A= (p.Gly1193=)
1g.197090866C>ACA344002321ASPMn.2907G>T
c.9620G>T (p.Gly3207Val)
c.9842G>T (p.Gly3281Val)
c.9596G>T (p.Gly3199Val)
c.4865G>T (p.Gly1622Val)
c.2615G>T (p.Gly872Val)
c.3578G>T (p.Gly1193Val)
1g.197090866C=CA1217925676ASPMn.2907G=
c.9620G= (p.Gly3207=)
c.9842G= (p.Gly3281=)
c.9596G= (p.Gly3199=)
c.4865G= (p.Gly1622=)
c.2615G= (p.Gly872=)
c.3578G= (p.Gly1193=)
1g.197090866C>GCA344002323ASPMn.2907G>C
c.9620G>C (p.Gly3207Ala)
c.9842G>C (p.Gly3281Ala)
c.9596G>C (p.Gly3199Ala)
c.4865G>C (p.Gly1622Ala)
c.2615G>C (p.Gly872Ala)
c.3578G>C (p.Gly1193Ala)
1g.197090866C>TCA344002324ASPMn.2907G>A
c.9620G>A (p.Gly3207Glu)
c.9842G>A (p.Gly3281Glu)
c.9596G>A (p.Gly3199Glu)
c.4865G>A (p.Gly1622Glu)
c.2615G>A (p.Gly872Glu)
c.3578G>A (p.Gly1193Glu)
dbSNP gnomAD v2 gnomAD v4
1g.197090867C>ACA344002328ASPMn.2906G>T
c.9619G>T (p.Gly3207Ter)
c.9841G>T (p.Gly3281Ter)
c.9595G>T (p.Gly3199Ter)
c.4864G>T (p.Gly1622Ter)
c.2614G>T (p.Gly872Ter)
c.3577G>T (p.Gly1193Ter)
1g.197090867C>GCA344002340ASPMn.2906G>C
c.9619G>C (p.Gly3207Arg)
c.9841G>C (p.Gly3281Arg)
c.9595G>C (p.Gly3199Arg)
c.4864G>C (p.Gly1622Arg)
c.2614G>C (p.Gly872Arg)
c.3577G>C (p.Gly1193Arg)
1g.197090867C>TCA344002337ASPMn.2906G>A
c.9619G>A (p.Gly3207Arg)
c.9841G>A (p.Gly3281Arg)
c.9595G>A (p.Gly3199Arg)
c.4864G>A (p.Gly1622Arg)
c.2614G>A (p.Gly872Arg)
c.3577G>A (p.Gly1193Arg)
1g.197090868A>CCA344002343ASPMn.2905T>G
c.9618T>G (p.Ser3206Arg)
c.9840T>G (p.Ser3280Arg)
c.9594T>G (p.Ser3198Arg)
c.4863T>G (p.Ser1621Arg)
c.2613T>G (p.Ser871Arg)
c.3576T>G (p.Ser1192Arg)
1g.197090868A>GCA422672404ASPMn.2905T>C
c.9618T>C (p.Ser3206=)
c.9840T>C (p.Ser3280=)
c.9594T>C (p.Ser3198=)
c.4863T>C (p.Ser1621=)
c.2613T>C (p.Ser871=)
c.3576T>C (p.Ser1192=)
1g.197090868A>TCA344002345ASPMn.2905T>A
c.9618T>A (p.Ser3206Arg)
c.9840T>A (p.Ser3280Arg)
c.9594T>A (p.Ser3198Arg)
c.4863T>A (p.Ser1621Arg)
c.2613T>A (p.Ser871Arg)
c.3576T>A (p.Ser1192Arg)
1g.197090869C>ACA344002346ASPMn.2904G>T
c.9617G>T (p.Ser3206Ile)
c.9839G>T (p.Ser3280Ile)
c.9593G>T (p.Ser3198Ile)
c.4862G>T (p.Ser1621Ile)
c.2612G>T (p.Ser871Ile)
c.3575G>T (p.Ser1192Ile)
1g.197090869C=CA1217925678ASPMn.2904G=
c.9617G= (p.Ser3206=)
c.9839G= (p.Ser3280=)
c.9593G= (p.Ser3198=)
c.4862G= (p.Ser1621=)
c.2612G= (p.Ser871=)
c.3575G= (p.Ser1192=)
1g.197090869C>GCA1308914ASPMn.2904G>C
c.9617G>C (p.Ser3206Thr)
c.9839G>C (p.Ser3280Thr)
c.9593G>C (p.Ser3198Thr)
c.4862G>C (p.Ser1621Thr)
c.2612G>C (p.Ser871Thr)
c.3575G>C (p.Ser1192Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090869C>TCA344002347ASPMn.2904G>A
c.9617G>A (p.Ser3206Asn)
c.9839G>A (p.Ser3280Asn)
c.9593G>A (p.Ser3198Asn)
c.4862G>A (p.Ser1621Asn)
c.2612G>A (p.Ser871Asn)
c.3575G>A (p.Ser1192Asn)
dbSNP
1g.197090870T>ACA344002350ASPMn.2903A>T
c.9616A>T (p.Ser3206Cys)
c.9838A>T (p.Ser3280Cys)
c.9592A>T (p.Ser3198Cys)
c.4861A>T (p.Ser1621Cys)
c.2611A>T (p.Ser871Cys)
c.3574A>T (p.Ser1192Cys)
1g.197090870T>CCA344002352ASPMn.2903A>G
c.9616A>G (p.Ser3206Gly)
c.9838A>G (p.Ser3280Gly)
c.9592A>G (p.Ser3198Gly)
c.4861A>G (p.Ser1621Gly)
c.2611A>G (p.Ser871Gly)
c.3574A>G (p.Ser1192Gly)
COSMIC
1g.197090870T>GCA344002355ASPMn.2903A>C
c.9616A>C (p.Ser3206Arg)
c.9838A>C (p.Ser3280Arg)
c.9592A>C (p.Ser3198Arg)
c.4861A>C (p.Ser1621Arg)
c.2611A>C (p.Ser871Arg)
c.3574A>C (p.Ser1192Arg)
1g.197090871A=CA1217925683ASPMn.2902T=
c.9615T= (p.Thr3205=)
c.9837T= (p.Thr3279=)
c.9591T= (p.Thr3197=)
c.4860T= (p.Thr1620=)
c.2610T= (p.Thr870=)
c.3573T= (p.Thr1191=)
1g.197090871A>CCA422672405ASPMn.2902T>G
c.9615T>G (p.Thr3205=)
c.9837T>G (p.Thr3279=)
c.9591T>G (p.Thr3197=)
c.4860T>G (p.Thr1620=)
c.2610T>G (p.Thr870=)
c.3573T>G (p.Thr1191=)
gnomAD v4
1g.197090871A>GCA422672406ASPMn.2902T>C
c.9615T>C (p.Thr3205=)
c.9837T>C (p.Thr3279=)
c.9591T>C (p.Thr3197=)
c.4860T>C (p.Thr1620=)
c.2610T>C (p.Thr870=)
c.3573T>C (p.Thr1191=)
dbSNP gnomAD v3 gnomAD v4
1g.197090871A>TCA422672407ASPMn.2902T>A
c.9615T>A (p.Thr3205=)
c.9837T>A (p.Thr3279=)
c.9591T>A (p.Thr3197=)
c.4860T>A (p.Thr1620=)
c.2610T>A (p.Thr870=)
c.3573T>A (p.Thr1191=)
1g.197090872G>ACA344002358ASPMn.2901C>T
c.9614C>T (p.Thr3205Ile)
c.9836C>T (p.Thr3279Ile)
c.9590C>T (p.Thr3197Ile)
c.4859C>T (p.Thr1620Ile)
c.2609C>T (p.Thr870Ile)
c.3572C>T (p.Thr1191Ile)
1g.197090872G>CCA344002361ASPMn.2901C>G
c.9614C>G (p.Thr3205Ser)
c.9836C>G (p.Thr3279Ser)
c.9590C>G (p.Thr3197Ser)
c.4859C>G (p.Thr1620Ser)
c.2609C>G (p.Thr870Ser)
c.3572C>G (p.Thr1191Ser)
1g.197090872G>TCA344002362ASPMn.2901C>A
c.9614C>A (p.Thr3205Asn)
c.9836C>A (p.Thr3279Asn)
c.9590C>A (p.Thr3197Asn)
c.4859C>A (p.Thr1620Asn)
c.2609C>A (p.Thr870Asn)
c.3572C>A (p.Thr1191Asn)
gnomAD v4
1g.197090873T>ACA344002369ASPMn.2900A>T
c.9613A>T (p.Thr3205Ser)
c.9835A>T (p.Thr3279Ser)
c.9589A>T (p.Thr3197Ser)
c.4858A>T (p.Thr1620Ser)
c.2608A>T (p.Thr870Ser)
c.3571A>T (p.Thr1191Ser)
gnomAD v4
1g.197090873T>CCA344002365ASPMn.2900A>G
c.9613A>G (p.Thr3205Ala)
c.9835A>G (p.Thr3279Ala)
c.9589A>G (p.Thr3197Ala)
c.4858A>G (p.Thr1620Ala)
c.2608A>G (p.Thr870Ala)
c.3571A>G (p.Thr1191Ala)
1g.197090873T>GCA344002367ASPMn.2900A>C
c.9613A>C (p.Thr3205Pro)
c.9835A>C (p.Thr3279Pro)
c.9589A>C (p.Thr3197Pro)
c.4858A>C (p.Thr1620Pro)
c.2608A>C (p.Thr870Pro)
c.3571A>C (p.Thr1191Pro)
1g.197090874G>ACA422672408ASPMn.2899C>T
c.9612C>T (p.Phe3204=)
c.9834C>T (p.Phe3278=)
c.9588C>T (p.Phe3196=)
c.4857C>T (p.Phe1619=)
c.2607C>T (p.Phe869=)
c.3570C>T (p.Phe1190=)
1g.197090874G>CCA344002372ASPMn.2899C>G
c.9612C>G (p.Phe3204Leu)
c.9834C>G (p.Phe3278Leu)
c.9588C>G (p.Phe3196Leu)
c.4857C>G (p.Phe1619Leu)
c.2607C>G (p.Phe869Leu)
c.3570C>G (p.Phe1190Leu)
1g.197090874G>TCA344002373ASPMn.2899C>A
c.9612C>A (p.Phe3204Leu)
c.9834C>A (p.Phe3278Leu)
c.9588C>A (p.Phe3196Leu)
c.4857C>A (p.Phe1619Leu)
c.2607C>A (p.Phe869Leu)
c.3570C>A (p.Phe1190Leu)
1g.197090875A>CCA344002374ASPMn.2898T>G
c.9611T>G (p.Phe3204Cys)
c.9833T>G (p.Phe3278Cys)
c.9587T>G (p.Phe3196Cys)
c.4856T>G (p.Phe1619Cys)
c.2606T>G (p.Phe869Cys)
c.3569T>G (p.Phe1190Cys)
1g.197090875A>GCA344002375ASPMn.2898T>C
c.9611T>C (p.Phe3204Ser)
c.9833T>C (p.Phe3278Ser)
c.9587T>C (p.Phe3196Ser)
c.4856T>C (p.Phe1619Ser)
c.2606T>C (p.Phe869Ser)
c.3569T>C (p.Phe1190Ser)
1g.197090875A>TCA344002377ASPMn.2898T>A
c.9611T>A (p.Phe3204Tyr)
c.9833T>A (p.Phe3278Tyr)
c.9587T>A (p.Phe3196Tyr)
c.4856T>A (p.Phe1619Tyr)
c.2606T>A (p.Phe869Tyr)
c.3569T>A (p.Phe1190Tyr)
1g.197090876A>CCA344002384ASPMn.2897T>G
c.9610T>G (p.Phe3204Val)
c.9832T>G (p.Phe3278Val)
c.9586T>G (p.Phe3196Val)
c.4855T>G (p.Phe1619Val)
c.2605T>G (p.Phe869Val)
c.3568T>G (p.Phe1190Val)
1g.197090876A>GCA344002380ASPMn.2897T>C
c.9610T>C (p.Phe3204Leu)
c.9832T>C (p.Phe3278Leu)
c.9586T>C (p.Phe3196Leu)
c.4855T>C (p.Phe1619Leu)
c.2605T>C (p.Phe869Leu)
c.3568T>C (p.Phe1190Leu)
1g.197090876A>TCA344002383ASPMn.2897T>A
c.9610T>A (p.Phe3204Ile)
c.9832T>A (p.Phe3278Ile)
c.9586T>A (p.Phe3196Ile)
c.4855T>A (p.Phe1619Ile)
c.2605T>A (p.Phe869Ile)
c.3568T>A (p.Phe1190Ile)
gnomAD v4 COSMIC
1g.197090877T>ACA344002385ASPMn.2896A>T
c.9609A>T (p.Lys3203Asn)
c.9831A>T (p.Lys3277Asn)
c.9585A>T (p.Lys3195Asn)
c.4854A>T (p.Lys1618Asn)
c.2604A>T (p.Lys868Asn)
c.3567A>T (p.Lys1189Asn)
dbSNP gnomAD v2 gnomAD v4
1g.197090877T>CCA422672409ASPMn.2896A>G
c.9609A>G (p.Lys3203=)
c.9831A>G (p.Lys3277=)
c.9585A>G (p.Lys3195=)
c.4854A>G (p.Lys1618=)
c.2604A>G (p.Lys868=)
c.3567A>G (p.Lys1189=)
dbSNP gnomAD v4
1g.197090877T>GCA344002386ASPMn.2896A>C
c.9609A>C (p.Lys3203Asn)
c.9831A>C (p.Lys3277Asn)
c.9585A>C (p.Lys3195Asn)
c.4854A>C (p.Lys1618Asn)
c.2604A>C (p.Lys868Asn)
c.3567A>C (p.Lys1189Asn)
1g.197090877T=CA1217925685ASPMn.2896A=
c.9609A= (p.Lys3203=)
c.9831A= (p.Lys3277=)
c.9585A= (p.Lys3195=)
c.4854A= (p.Lys1618=)
c.2604A= (p.Lys868=)
c.3567A= (p.Lys1189=)
1g.197090878T>ACA344002391ASPMn.2895A>T
c.9608A>T (p.Lys3203Ile)
c.9830A>T (p.Lys3277Ile)
c.9584A>T (p.Lys3195Ile)
c.4853A>T (p.Lys1618Ile)
c.2603A>T (p.Lys868Ile)
c.3566A>T (p.Lys1189Ile)
1g.197090878T>CCA344002393ASPMn.2895A>G
c.9608A>G (p.Lys3203Arg)
c.9830A>G (p.Lys3277Arg)
c.9584A>G (p.Lys3195Arg)
c.4853A>G (p.Lys1618Arg)
c.2603A>G (p.Lys868Arg)
c.3566A>G (p.Lys1189Arg)
dbSNP
1g.197090878T>GCA344002395ASPMn.2895A>C
c.9608A>C (p.Lys3203Thr)
c.9830A>C (p.Lys3277Thr)
c.9584A>C (p.Lys3195Thr)
c.4853A>C (p.Lys1618Thr)
c.2603A>C (p.Lys868Thr)
c.3566A>C (p.Lys1189Thr)
1g.197090878T=CA1217925688ASPMn.2895A=
c.9608A= (p.Lys3203=)
c.9830A= (p.Lys3277=)
c.9584A= (p.Lys3195=)
c.4853A= (p.Lys1618=)
c.2603A= (p.Lys868=)
c.3566A= (p.Lys1189=)
1g.197090879T>ACA344002398ASPMn.2894A>T
c.9607A>T (p.Lys3203Ter)
c.9829A>T (p.Lys3277Ter)
c.9583A>T (p.Lys3195Ter)
c.4852A>T (p.Lys1618Ter)
c.2602A>T (p.Lys868Ter)
c.3565A>T (p.Lys1189Ter)
1g.197090879T>CCA344002400ASPMn.2894A>G
c.9607A>G (p.Lys3203Glu)
c.9829A>G (p.Lys3277Glu)
c.9583A>G (p.Lys3195Glu)
c.4852A>G (p.Lys1618Glu)
c.2602A>G (p.Lys868Glu)
c.3565A>G (p.Lys1189Glu)
1g.197090879T>GCA344002403ASPMn.2894A>C
c.9607A>C (p.Lys3203Gln)
c.9829A>C (p.Lys3277Gln)
c.9583A>C (p.Lys3195Gln)
c.4852A>C (p.Lys1618Gln)
c.2602A>C (p.Lys868Gln)
c.3565A>C (p.Lys1189Gln)
1g.197090880T>ACA344002407ASPMn.2893A>T
c.9606A>T (p.Glu3202Asp)
c.9828A>T (p.Glu3276Asp)
c.9582A>T (p.Glu3194Asp)
c.4851A>T (p.Glu1617Asp)
c.2601A>T (p.Glu867Asp)
c.3564A>T (p.Glu1188Asp)
1g.197090880T>CCA422672410ASPMn.2893A>G
c.9606A>G (p.Glu3202=)
c.9828A>G (p.Glu3276=)
c.9582A>G (p.Glu3194=)
c.4851A>G (p.Glu1617=)
c.2601A>G (p.Glu867=)
c.3564A>G (p.Glu1188=)
1g.197090880T>GCA344002409ASPMn.2893A>C
c.9606A>C (p.Glu3202Asp)
c.9828A>C (p.Glu3276Asp)
c.9582A>C (p.Glu3194Asp)
c.4851A>C (p.Glu1617Asp)
c.2601A>C (p.Glu867Asp)
c.3564A>C (p.Glu1188Asp)
1g.197090881T>ACA344002412ASPMn.2892A>T
c.9605A>T (p.Glu3202Val)
c.9827A>T (p.Glu3276Val)
c.9581A>T (p.Glu3194Val)
c.4850A>T (p.Glu1617Val)
c.2600A>T (p.Glu867Val)
c.3563A>T (p.Glu1188Val)
1g.197090881T>CCA344002414ASPMn.2892A>G
c.9605A>G (p.Glu3202Gly)
c.9827A>G (p.Glu3276Gly)
c.9581A>G (p.Glu3194Gly)
c.4850A>G (p.Glu1617Gly)
c.2600A>G (p.Glu867Gly)
c.3563A>G (p.Glu1188Gly)
gnomAD v4
1g.197090881T>GCA344002417ASPMn.2892A>C
c.9605A>C (p.Glu3202Ala)
c.9827A>C (p.Glu3276Ala)
c.9581A>C (p.Glu3194Ala)
c.4850A>C (p.Glu1617Ala)
c.2600A>C (p.Glu867Ala)
c.3563A>C (p.Glu1188Ala)
1g.197090882C>ACA344002420ASPMn.2891G>T
c.9604G>T (p.Glu3202Ter)
c.9826G>T (p.Glu3276Ter)
c.9580G>T (p.Glu3194Ter)
c.4849G>T (p.Glu1617Ter)
c.2599G>T (p.Glu867Ter)
c.3562G>T (p.Glu1188Ter)
1g.197090882C=CA1217925690ASPMn.2891G=
c.9604G= (p.Glu3202=)
c.9826G= (p.Glu3276=)
c.9580G= (p.Glu3194=)
c.4849G= (p.Glu1617=)
c.2599G= (p.Glu867=)
c.3562G= (p.Glu1188=)
1g.197090882C>GCA344002423ASPMn.2891G>C
c.9604G>C (p.Glu3202Gln)
c.9826G>C (p.Glu3276Gln)
c.9580G>C (p.Glu3194Gln)
c.4849G>C (p.Glu1617Gln)
c.2599G>C (p.Glu867Gln)
c.3562G>C (p.Glu1188Gln)
1g.197090882C>TCA35862183ASPMn.2891G>A
c.9604G>A (p.Glu3202Lys)
c.9826G>A (p.Glu3276Lys)
c.9580G>A (p.Glu3194Lys)
c.4849G>A (p.Glu1617Lys)
c.2599G>A (p.Glu867Lys)
c.3562G>A (p.Glu1188Lys)
dbSNP
1g.197090883C>ACA344002428ASPMn.2890G>T
c.9603G>T (p.Gln3201His)
c.9825G>T (p.Gln3275His)
c.9579G>T (p.Gln3193His)
c.4848G>T (p.Gln1616His)
c.2598G>T (p.Gln866His)
c.3561G>T (p.Gln1187His)
1g.197090883C>GCA344002430ASPMn.2890G>C
c.9603G>C (p.Gln3201His)
c.9825G>C (p.Gln3275His)
c.9579G>C (p.Gln3193His)
c.4848G>C (p.Gln1616His)
c.2598G>C (p.Gln866His)
c.3561G>C (p.Gln1187His)
1g.197090883C>TCA422672411ASPMn.2890G>A
c.9603G>A (p.Gln3201=)
c.9825G>A (p.Gln3275=)
c.9579G>A (p.Gln3193=)
c.4848G>A (p.Gln1616=)
c.2598G>A (p.Gln866=)
c.3561G>A (p.Gln1187=)
1g.197090884T>ACA344002434ASPMn.2889A>T
c.9602A>T (p.Gln3201Leu)
c.9824A>T (p.Gln3275Leu)
c.9578A>T (p.Gln3193Leu)
c.4847A>T (p.Gln1616Leu)
c.2597A>T (p.Gln866Leu)
c.3560A>T (p.Gln1187Leu)
1g.197090884T>CCA344002436ASPMn.2889A>G
c.9602A>G (p.Gln3201Arg)
c.9824A>G (p.Gln3275Arg)
c.9578A>G (p.Gln3193Arg)
c.4847A>G (p.Gln1616Arg)
c.2597A>G (p.Gln866Arg)
c.3560A>G (p.Gln1187Arg)
1g.197090884T>GCA344002438ASPMn.2889A>C
c.9602A>C (p.Gln3201Pro)
c.9824A>C (p.Gln3275Pro)
c.9578A>C (p.Gln3193Pro)
c.4847A>C (p.Gln1616Pro)
c.2597A>C (p.Gln866Pro)
c.3560A>C (p.Gln1187Pro)
1g.197090885G>ACA344002440ASPMn.2888C>T
c.9601C>T (p.Gln3201Ter)
c.9823C>T (p.Gln3275Ter)
c.9577C>T (p.Gln3193Ter)
c.4846C>T (p.Gln1616Ter)
c.2596C>T (p.Gln866Ter)
c.3559C>T (p.Gln1187Ter)
1g.197090885G>CCA344002442ASPMn.2888C>G
c.9601C>G (p.Gln3201Glu)
c.9823C>G (p.Gln3275Glu)
c.9577C>G (p.Gln3193Glu)
c.4846C>G (p.Gln1616Glu)
c.2596C>G (p.Gln866Glu)
c.3559C>G (p.Gln1187Glu)
1g.197090885G>TCA344002444ASPMn.2888C>A
c.9601C>A (p.Gln3201Lys)
c.9823C>A (p.Gln3275Lys)
c.9577C>A (p.Gln3193Lys)
c.4846C>A (p.Gln1616Lys)
c.2596C>A (p.Gln866Lys)
c.3559C>A (p.Gln1187Lys)
1g.197090886delCA2649660857ASPMn.2887del
c.9600del (p.Lys3200AsnfsTer?)
c.9822del (p.Lys3274AsnfsTer?)
c.9576del (p.Lys3192AsnfsTer?)
c.4845del (p.Lys1615AsnfsTer?)
c.2595del (p.Lys865AsnfsTer?)
c.3558del (p.Lys1186AsnfsTer?)
gnomAD v4
1g.197090886C>ACA344002446ASPMn.2887G>T
c.9600G>T (p.Lys3200Asn)
c.9822G>T (p.Lys3274Asn)
c.9576G>T (p.Lys3192Asn)
c.4845G>T (p.Lys1615Asn)
c.2595G>T (p.Lys865Asn)
c.3558G>T (p.Lys1186Asn)
1g.197090886C>GCA344002447ASPMn.2887G>C
c.9600G>C (p.Lys3200Asn)
c.9822G>C (p.Lys3274Asn)
c.9576G>C (p.Lys3192Asn)
c.4845G>C (p.Lys1615Asn)
c.2595G>C (p.Lys865Asn)
c.3558G>C (p.Lys1186Asn)
1g.197090886C>TCA422672412ASPMn.2887G>A
c.9600G>A (p.Lys3200=)
c.9822G>A (p.Lys3274=)
c.9576G>A (p.Lys3192=)
c.4845G>A (p.Lys1615=)
c.2595G>A (p.Lys865=)
c.3558G>A (p.Lys1186=)
1g.197090887T>ACA344002450ASPMn.2886A>T
c.9599A>T (p.Lys3200Met)
c.9821A>T (p.Lys3274Met)
c.9575A>T (p.Lys3192Met)
c.4844A>T (p.Lys1615Met)
c.2594A>T (p.Lys865Met)
c.3557A>T (p.Lys1186Met)
gnomAD v4
1g.197090887T>CCA344002452ASPMn.2886A>G
c.9599A>G (p.Lys3200Arg)
c.9821A>G (p.Lys3274Arg)
c.9575A>G (p.Lys3192Arg)
c.4844A>G (p.Lys1615Arg)
c.2594A>G (p.Lys865Arg)
c.3557A>G (p.Lys1186Arg)
1g.197090887T>GCA344002455ASPMn.2886A>C
c.9599A>C (p.Lys3200Thr)
c.9821A>C (p.Lys3274Thr)
c.9575A>C (p.Lys3192Thr)
c.4844A>C (p.Lys1615Thr)
c.2594A>C (p.Lys865Thr)
c.3557A>C (p.Lys1186Thr)
1g.197090888T>ACA344002463ASPMn.2885A>T
c.9598A>T (p.Lys3200Ter)
c.9820A>T (p.Lys3274Ter)
c.9574A>T (p.Lys3192Ter)
c.4843A>T (p.Lys1615Ter)
c.2593A>T (p.Lys865Ter)
c.3556A>T (p.Lys1186Ter)
1g.197090888T>CCA344002459ASPMn.2885A>G
c.9598A>G (p.Lys3200Glu)
c.9820A>G (p.Lys3274Glu)
c.9574A>G (p.Lys3192Glu)
c.4843A>G (p.Lys1615Glu)
c.2593A>G (p.Lys865Glu)
c.3556A>G (p.Lys1186Glu)
1g.197090888T>GCA344002462ASPMn.2885A>C
c.9598A>C (p.Lys3200Gln)
c.9820A>C (p.Lys3274Gln)
c.9574A>C (p.Lys3192Gln)
c.4843A>C (p.Lys1615Gln)
c.2593A>C (p.Lys865Gln)
c.3556A>C (p.Lys1186Gln)
1g.197090889T>ACA344002466ASPMn.2884A>T
c.9597A>T (p.Lys3199Asn)
c.9819A>T (p.Lys3273Asn)
c.9573A>T (p.Lys3191Asn)
c.4842A>T (p.Lys1614Asn)
c.2592A>T (p.Lys864Asn)
c.3555A>T (p.Lys1185Asn)
1g.197090889T>CCA422672413ASPMn.2884A>G
c.9597A>G (p.Lys3199=)
c.9819A>G (p.Lys3273=)
c.9573A>G (p.Lys3191=)
c.4842A>G (p.Lys1614=)
c.2592A>G (p.Lys864=)
c.3555A>G (p.Lys1185=)
dbSNP gnomAD v3 gnomAD v4
1g.197090889T>GCA344002469ASPMn.2884A>C
c.9597A>C (p.Lys3199Asn)
c.9819A>C (p.Lys3273Asn)
c.9573A>C (p.Lys3191Asn)
c.4842A>C (p.Lys1614Asn)
c.2592A>C (p.Lys864Asn)
c.3555A>C (p.Lys1185Asn)
1g.197090889T=CA1217925692ASPMn.2884A=
c.9597A= (p.Lys3199=)
c.9819A= (p.Lys3273=)
c.9573A= (p.Lys3191=)
c.4842A= (p.Lys1614=)
c.2592A= (p.Lys864=)
c.3555A= (p.Lys1185=)
1g.197090890T>ACA344002472ASPMn.2883A>T
c.9596A>T (p.Lys3199Ile)
c.9818A>T (p.Lys3273Ile)
c.9572A>T (p.Lys3191Ile)
c.4841A>T (p.Lys1614Ile)
c.2591A>T (p.Lys864Ile)
c.3554A>T (p.Lys1185Ile)
1g.197090890T>CCA344002475ASPMn.2883A>G
c.9596A>G (p.Lys3199Arg)
c.9818A>G (p.Lys3273Arg)
c.9572A>G (p.Lys3191Arg)
c.4841A>G (p.Lys1614Arg)
c.2591A>G (p.Lys864Arg)
c.3554A>G (p.Lys1185Arg)
1g.197090890T>GCA344002477ASPMn.2883A>C
c.9596A>C (p.Lys3199Thr)
c.9818A>C (p.Lys3273Thr)
c.9572A>C (p.Lys3191Thr)
c.4841A>C (p.Lys1614Thr)
c.2591A>C (p.Lys864Thr)
c.3554A>C (p.Lys1185Thr)
1g.197090891T>ACA342302ASPMn.2882A>T
c.9595A>T (p.Lys3199Ter)
c.9817A>T (p.Lys3273Ter)
c.9571A>T (p.Lys3191Ter)
c.4840A>T (p.Lys1614Ter)
c.2590A>T (p.Lys864Ter)
c.3553A>T (p.Lys1185Ter)
ClinVar dbSNP ExAC gnomAD v2
1g.197090891T>CCA344002481ASPMn.2882A>G
c.9595A>G (p.Lys3199Glu)
c.9817A>G (p.Lys3273Glu)
c.9571A>G (p.Lys3191Glu)
c.4840A>G (p.Lys1614Glu)
c.2590A>G (p.Lys864Glu)
c.3553A>G (p.Lys1185Glu)
1g.197090891T>GCA344002488ASPMn.2882A>C
c.9595A>C (p.Lys3199Gln)
c.9817A>C (p.Lys3273Gln)
c.9571A>C (p.Lys3191Gln)
c.4840A>C (p.Lys1614Gln)
c.2590A>C (p.Lys864Gln)
c.3553A>C (p.Lys1185Gln)
1g.197090891T=CA1143355789ASPMn.2882A=
c.9595A= (p.Lys3199=)
c.9817A= (p.Lys3273=)
c.9571A= (p.Lys3191=)
c.4840A= (p.Lys1614=)
c.2590A= (p.Lys864=)
c.3553A= (p.Lys1185=)
1g.197090892A=CA1217925699ASPMn.2881T=
c.9594T= (p.Arg3198=)
c.9816T= (p.Arg3272=)
c.9570T= (p.Arg3190=)
c.4839T= (p.Arg1613=)
c.2589T= (p.Arg863=)
c.3552T= (p.Arg1184=)
1g.197090892A>CCA422672414ASPMn.2881T>G
c.9594T>G (p.Arg3198=)
c.9816T>G (p.Arg3272=)
c.9570T>G (p.Arg3190=)
c.4839T>G (p.Arg1613=)
c.2589T>G (p.Arg863=)
c.3552T>G (p.Arg1184=)
1g.197090892A>GCA422672415ASPMn.2881T>C
c.9594T>C (p.Arg3198=)
c.9816T>C (p.Arg3272=)
c.9570T>C (p.Arg3190=)
c.4839T>C (p.Arg1613=)
c.2589T>C (p.Arg863=)
c.3552T>C (p.Arg1184=)
dbSNP gnomAD v2
1g.197090892A>TCA422672416ASPMn.2881T>A
c.9594T>A (p.Arg3198=)
c.9816T>A (p.Arg3272=)
c.9570T>A (p.Arg3190=)
c.4839T>A (p.Arg1613=)
c.2589T>A (p.Arg863=)
c.3552T>A (p.Arg1184=)
1g.197090893C>ACA1308916ASPMn.2880G>T
c.9593G>T (p.Arg3198Leu)
c.9815G>T (p.Arg3272Leu)
c.9569G>T (p.Arg3190Leu)
c.4838G>T (p.Arg1613Leu)
c.2588G>T (p.Arg863Leu)
c.3551G>T (p.Arg1184Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090893C=CA1142047998ASPMn.2880G=
c.9593G= (p.Arg3198=)
c.9815G= (p.Arg3272=)
c.9569G= (p.Arg3190=)
c.4838G= (p.Arg1613=)
c.2588G= (p.Arg863=)
c.3551G= (p.Arg1184=)
1g.197090893C>GCA344002492ASPMn.2880G>C
c.9593G>C (p.Arg3198Pro)
c.9815G>C (p.Arg3272Pro)
c.9569G>C (p.Arg3190Pro)
c.4838G>C (p.Arg1613Pro)
c.2588G>C (p.Arg863Pro)
c.3551G>C (p.Arg1184Pro)
1g.197090893C>TCA1308915ASPMn.2880G>A
c.9593G>A (p.Arg3198His)
c.9815G>A (p.Arg3272His)
c.9569G>A (p.Arg3190His)
c.4838G>A (p.Arg1613His)
c.2588G>A (p.Arg863His)
c.3551G>A (p.Arg1184His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197090893_197090896delinsCGGACA1217925703ASPMn.2877_2880delinsTCCG
c.9590_9593delinsTCCG (p.Leu3197=)
c.9812_9815delinsTCCG (p.Leu3271=)
c.9566_9569delinsTCCG (p.Leu3189=)
c.4835_4838delinsTCCG (p.Leu1612=)
c.2585_2588delinsTCCG (p.Leu862=)
c.3548_3551delinsTCCG (p.Leu1183=)
1g.197090894G>ACA1308917ASPMn.2879C>T
c.9592C>T (p.Arg3198Cys)
c.9814C>T (p.Arg3272Cys)
c.9568C>T (p.Arg3190Cys)
c.4837C>T (p.Arg1613Cys)
c.2587C>T (p.Arg863Cys)
c.3550C>T (p.Arg1184Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197090894G>CCA344002498ASPMn.2879C>G
c.9592C>G (p.Arg3198Gly)
c.9814C>G (p.Arg3272Gly)
c.9568C>G (p.Arg3190Gly)
c.4837C>G (p.Arg1613Gly)
c.2587C>G (p.Arg863Gly)
c.3550C>G (p.Arg1184Gly)
gnomAD v4
1g.197090894G=CA1217925707ASPMn.2879C=
c.9592C= (p.Arg3198=)
c.9814C= (p.Arg3272=)
c.9568C= (p.Arg3190=)
c.4837C= (p.Arg1613=)
c.2587C= (p.Arg863=)
c.3550C= (p.Arg1184=)
1g.197090894G>TCA1308918ASPMn.2879C>A
c.9592C>A (p.Arg3198Ser)
c.9814C>A (p.Arg3272Ser)
c.9568C>A (p.Arg3190Ser)
c.4837C>A (p.Arg1613Ser)
c.2587C>A (p.Arg863Ser)
c.3550C>A (p.Arg1184Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090898_197090900delCA528535104ASPMn.2877_2879del
c.9590_9592del (p.Leu3197del)
c.9812_9814del (p.Leu3271del)
c.9566_9568del (p.Leu3189del)
c.4835_4837del (p.Leu1612del)
c.2585_2587del (p.Leu862del)
c.3548_3550del (p.Leu1183del)
dbSNP gnomAD v2 gnomAD v4
1g.197090895G>ACA422672417ASPMn.2878C>T
c.9591C>T (p.Leu3197=)
c.9813C>T (p.Leu3271=)
c.9567C>T (p.Leu3189=)
c.4836C>T (p.Leu1612=)
c.2586C>T (p.Leu862=)
c.3549C>T (p.Leu1183=)
gnomAD v4
1g.197090895G>CCA422672418ASPMn.2878C>G
c.9591C>G (p.Leu3197=)
c.9813C>G (p.Leu3271=)
c.9567C>G (p.Leu3189=)
c.4836C>G (p.Leu1612=)
c.2586C>G (p.Leu862=)
c.3549C>G (p.Leu1183=)
1g.197090895G=CA1217925712ASPMn.2878C=
c.9591C= (p.Leu3197=)
c.9813C= (p.Leu3271=)
c.9567C= (p.Leu3189=)
c.4836C= (p.Leu1612=)
c.2586C= (p.Leu862=)
c.3549C= (p.Leu1183=)
1g.197090895G>TCA422672419ASPMn.2878C>A
c.9591C>A (p.Leu3197=)
c.9813C>A (p.Leu3271=)
c.9567C>A (p.Leu3189=)
c.4836C>A (p.Leu1612=)
c.2586C>A (p.Leu862=)
c.3549C>A (p.Leu1183=)
dbSNP gnomAD v2
1g.197090896A>CCA344002500ASPMn.2877T>G
c.9590T>G (p.Leu3197Arg)
c.9812T>G (p.Leu3271Arg)
c.9566T>G (p.Leu3189Arg)
c.4835T>G (p.Leu1612Arg)
c.2585T>G (p.Leu862Arg)
c.3548T>G (p.Leu1183Arg)
1g.197090896A>GCA344002503ASPMn.2877T>C
c.9590T>C (p.Leu3197Pro)
c.9812T>C (p.Leu3271Pro)
c.9566T>C (p.Leu3189Pro)
c.4835T>C (p.Leu1612Pro)
c.2585T>C (p.Leu862Pro)
c.3548T>C (p.Leu1183Pro)
1g.197090896A>TCA344002505ASPMn.2877T>A
c.9590T>A (p.Leu3197His)
c.9812T>A (p.Leu3271His)
c.9566T>A (p.Leu3189His)
c.4835T>A (p.Leu1612His)
c.2585T>A (p.Leu862His)
c.3548T>A (p.Leu1183His)
1g.197090897G>ACA344002507ASPMn.2876C>T
c.9589C>T (p.Leu3197Phe)
c.9811C>T (p.Leu3271Phe)
c.9565C>T (p.Leu3189Phe)
c.4834C>T (p.Leu1612Phe)
c.2584C>T (p.Leu862Phe)
c.3547C>T (p.Leu1183Phe)
1g.197090897G>CCA344002508ASPMn.2876C>G
c.9589C>G (p.Leu3197Val)
c.9811C>G (p.Leu3271Val)
c.9565C>G (p.Leu3189Val)
c.4834C>G (p.Leu1612Val)
c.2584C>G (p.Leu862Val)
c.3547C>G (p.Leu1183Val)
1g.197090897G>TCA344002509ASPMn.2876C>A
c.9589C>A (p.Leu3197Ile)
c.9811C>A (p.Leu3271Ile)
c.9565C>A (p.Leu3189Ile)
c.4834C>A (p.Leu1612Ile)
c.2584C>A (p.Leu862Ile)
c.3547C>A (p.Leu1183Ile)
1g.197090898G>ACA422672420ASPMn.2875C>T
c.9588C>T (p.Leu3196=)
c.9810C>T (p.Leu3270=)
c.9564C>T (p.Leu3188=)
c.4833C>T (p.Leu1611=)
c.2583C>T (p.Leu861=)
c.3546C>T (p.Leu1182=)
dbSNP gnomAD v2
1g.197090898G>CCA35862187ASPMn.2875C>G
c.9588C>G (p.Leu3196=)
c.9810C>G (p.Leu3270=)
c.9564C>G (p.Leu3188=)
c.4833C>G (p.Leu1611=)
c.2583C>G (p.Leu861=)
c.3546C>G (p.Leu1182=)
dbSNP gnomAD v4
1g.197090898G=CA1217925713ASPMn.2875C=
c.9588C= (p.Leu3196=)
c.9810C= (p.Leu3270=)
c.9564C= (p.Leu3188=)
c.4833C= (p.Leu1611=)
c.2583C= (p.Leu861=)
c.3546C= (p.Leu1182=)
1g.197090898G>TCA35862190ASPMn.2875C>A
c.9588C>A (p.Leu3196=)
c.9810C>A (p.Leu3270=)
c.9564C>A (p.Leu3188=)
c.4833C>A (p.Leu1611=)
c.2583C>A (p.Leu861=)
c.3546C>A (p.Leu1182=)
dbSNP
1g.197090899A=CA1217925717ASPMn.2874T=
c.9587T= (p.Leu3196=)
c.9809T= (p.Leu3270=)
c.9563T= (p.Leu3188=)
c.4832T= (p.Leu1611=)
c.2582T= (p.Leu861=)
c.3545T= (p.Leu1182=)
1g.197090899A>CCA344002515ASPMn.2874T>G
c.9587T>G (p.Leu3196Arg)
c.9809T>G (p.Leu3270Arg)
c.9563T>G (p.Leu3188Arg)
c.4832T>G (p.Leu1611Arg)
c.2582T>G (p.Leu861Arg)
c.3545T>G (p.Leu1182Arg)
1g.197090899A>GCA344002511ASPMn.2874T>C
c.9587T>C (p.Leu3196Pro)
c.9809T>C (p.Leu3270Pro)
c.9563T>C (p.Leu3188Pro)
c.4832T>C (p.Leu1611Pro)
c.2582T>C (p.Leu861Pro)
c.3545T>C (p.Leu1182Pro)
dbSNP
1g.197090899A>TCA344002513ASPMn.2874T>A
c.9587T>A (p.Leu3196His)
c.9809T>A (p.Leu3270His)
c.9563T>A (p.Leu3188His)
c.4832T>A (p.Leu1611His)
c.2582T>A (p.Leu861His)
c.3545T>A (p.Leu1182His)
1g.197090900G>ACA344002518ASPMn.2873C>T
c.9586C>T (p.Leu3196Phe)
c.9808C>T (p.Leu3270Phe)
c.9562C>T (p.Leu3188Phe)
c.4831C>T (p.Leu1611Phe)
c.2581C>T (p.Leu861Phe)
c.3544C>T (p.Leu1182Phe)
1g.197090900G>CCA344002520ASPMn.2873C>G
c.9586C>G (p.Leu3196Val)
c.9808C>G (p.Leu3270Val)
c.9562C>G (p.Leu3188Val)
c.4831C>G (p.Leu1611Val)
c.2581C>G (p.Leu861Val)
c.3544C>G (p.Leu1182Val)
1g.197090900G>TCA344002523ASPMn.2873C>A
c.9586C>A (p.Leu3196Ile)
c.9808C>A (p.Leu3270Ile)
c.9562C>A (p.Leu3188Ile)
c.4831C>A (p.Leu1611Ile)
c.2581C>A (p.Leu861Ile)
c.3544C>A (p.Leu1182Ile)
1g.197090901A>CCA344002526ASPMn.2872T>G
c.9585T>G (p.Phe3195Leu)
c.9807T>G (p.Phe3269Leu)
c.9561T>G (p.Phe3187Leu)
c.4830T>G (p.Phe1610Leu)
c.2580T>G (p.Phe860Leu)
c.3543T>G (p.Phe1181Leu)
1g.197090901A>GCA422672421ASPMn.2872T>C
c.9585T>C (p.Phe3195=)
c.9807T>C (p.Phe3269=)
c.9561T>C (p.Phe3187=)
c.4830T>C (p.Phe1610=)
c.2580T>C (p.Phe860=)
c.3543T>C (p.Phe1181=)
1g.197090901A>TCA344002527ASPMn.2872T>A
c.9585T>A (p.Phe3195Leu)
c.9807T>A (p.Phe3269Leu)
c.9561T>A (p.Phe3187Leu)
c.4830T>A (p.Phe1610Leu)
c.2580T>A (p.Phe860Leu)
c.3543T>A (p.Phe1181Leu)
1g.197090902A>CCA344002532ASPMn.2871T>G
c.9584T>G (p.Phe3195Cys)
c.9806T>G (p.Phe3269Cys)
c.9560T>G (p.Phe3187Cys)
c.4829T>G (p.Phe1610Cys)
c.2579T>G (p.Phe860Cys)
c.3542T>G (p.Phe1181Cys)
1g.197090902A>GCA344002537ASPMn.2871T>C
c.9584T>C (p.Phe3195Ser)
c.9806T>C (p.Phe3269Ser)
c.9560T>C (p.Phe3187Ser)
c.4829T>C (p.Phe1610Ser)
c.2579T>C (p.Phe860Ser)
c.3542T>C (p.Phe1181Ser)
1g.197090902A>TCA344002535ASPMn.2871T>A
c.9584T>A (p.Phe3195Tyr)
c.9806T>A (p.Phe3269Tyr)
c.9560T>A (p.Phe3187Tyr)
c.4829T>A (p.Phe1610Tyr)
c.2579T>A (p.Phe860Tyr)
c.3542T>A (p.Phe1181Tyr)
COSMIC
1g.197090903A=CA1217925718ASPMn.2870T=
c.9583T= (p.Phe3195=)
c.9805T= (p.Phe3269=)
c.9559T= (p.Phe3187=)
c.4828T= (p.Phe1610=)
c.2578T= (p.Phe860=)
c.3541T= (p.Phe1181=)
1g.197090903A>CCA344002540ASPMn.2870T>G
c.9583T>G (p.Phe3195Val)
c.9805T>G (p.Phe3269Val)
c.9559T>G (p.Phe3187Val)
c.4828T>G (p.Phe1610Val)
c.2578T>G (p.Phe860Val)
c.3541T>G (p.Phe1181Val)
1g.197090903A>GCA344002543ASPMn.2870T>C
c.9583T>C (p.Phe3195Leu)
c.9805T>C (p.Phe3269Leu)
c.9559T>C (p.Phe3187Leu)
c.4828T>C (p.Phe1610Leu)
c.2578T>C (p.Phe860Leu)
c.3541T>C (p.Phe1181Leu)
dbSNP gnomAD v2 gnomAD v4
1g.197090903A>TCA344002544ASPMn.2870T>A
c.9583T>A (p.Phe3195Ile)
c.9805T>A (p.Phe3269Ile)
c.9559T>A (p.Phe3187Ile)
c.4828T>A (p.Phe1610Ile)
c.2578T>A (p.Phe860Ile)
c.3541T>A (p.Phe1181Ile)

Number of alleles fetched