Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.15424268G>ACA2490889269NBASc.674+47C>T
n.2590+47C>T
c.2094+47C>T (n.2094+47C>T)
c.2577+47C>T (n.2577+47C>T)
c.78+47C>T (n.78+47C>T)
c.80+47C>T
n.2621+47C>T
c.2448+47C>T (n.2448+47C>T)
c.1938+47C>T (n.1938+47C>T)
c.378+47C>T (n.378+47C>T)
c.369+47C>T (n.369+47C>T)
n.2607+47C>T
 dbSNP gnomAD v4
2g.15424268G=CA2490889268NBASc.674+47C=
n.2590+47C=
c.2094+47C= (n.2094+47C=)
c.2577+47C= (n.2577+47C=)
c.78+47C= (n.78+47C=)
c.80+47C=
n.2621+47C=
c.2448+47C= (n.2448+47C=)
c.1938+47C= (n.1938+47C=)
c.378+47C= (n.378+47C=)
c.369+47C= (n.369+47C=)
n.2607+47C=
2g.15424269G>ACA424870407NBASc.674+46C>T
n.2590+46C>T
c.2094+46C>T (n.2094+46C>T)
c.2577+46C>T (n.2577+46C>T)
c.78+46C>T (n.78+46C>T)
c.80+46C>T
n.2621+46C>T
c.2448+46C>T (n.2448+46C>T)
c.1938+46C>T (n.1938+46C>T)
c.378+46C>T (n.378+46C>T)
c.369+46C>T (n.369+46C>T)
n.2607+46C>T
 dbSNP gnomAD v2 gnomAD v4
2g.15424269G=CA2490889270NBASc.674+46C=
n.2590+46C=
c.2094+46C= (n.2094+46C=)
c.2577+46C= (n.2577+46C=)
c.78+46C= (n.78+46C=)
c.80+46C=
n.2621+46C=
c.2448+46C= (n.2448+46C=)
c.1938+46C= (n.1938+46C=)
c.378+46C= (n.378+46C=)
c.369+46C= (n.369+46C=)
n.2607+46C=
2g.15424271A=CA2490889271NBASc.674+44T=
n.2590+44T=
c.2094+44T= (n.2094+44T=)
c.2577+44T= (n.2577+44T=)
c.78+44T= (n.78+44T=)
c.80+44T=
n.2621+44T=
c.2448+44T= (n.2448+44T=)
c.1938+44T= (n.1938+44T=)
c.378+44T= (n.378+44T=)
c.369+44T= (n.369+44T=)
n.2607+44T=
2g.15424271A>CCA42632383NBASc.674+44T>G
n.2590+44T>G
c.2094+44T>G (n.2094+44T>G)
c.2577+44T>G (n.2577+44T>G)
c.78+44T>G (n.78+44T>G)
c.80+44T>G
n.2621+44T>G
c.2448+44T>G (n.2448+44T>G)
c.1938+44T>G (n.1938+44T>G)
c.378+44T>G (n.378+44T>G)
c.369+44T>G (n.369+44T>G)
n.2607+44T>G
 dbSNP gnomAD v3 gnomAD v4
2g.15424271A>GCA1027846707NBASc.674+44T>C
n.2590+44T>C
c.2094+44T>C (n.2094+44T>C)
c.2577+44T>C (n.2577+44T>C)
c.78+44T>C (n.78+44T>C)
c.80+44T>C
n.2621+44T>C
c.2448+44T>C (n.2448+44T>C)
c.1938+44T>C (n.1938+44T>C)
c.378+44T>C (n.378+44T>C)
c.369+44T>C (n.369+44T>C)
n.2607+44T>C
 dbSNP gnomAD v3 gnomAD v4
2g.15424273T>CCA2657912152NBASc.674+42A>G
n.2590+42A>G
c.2094+42A>G (n.2094+42A>G)
c.2577+42A>G (n.2577+42A>G)
c.78+42A>G (n.78+42A>G)
c.80+42A>G
n.2621+42A>G
c.2448+42A>G (n.2448+42A>G)
c.1938+42A>G (n.1938+42A>G)
c.378+42A>G (n.378+42A>G)
c.369+42A>G (n.369+42A>G)
n.2607+42A>G
 gnomAD v4
2g.15424274T>GCA531034379NBASc.674+41A>C
n.2590+41A>C
c.2094+41A>C (n.2094+41A>C)
c.2577+41A>C (n.2577+41A>C)
c.78+41A>C (n.78+41A>C)
c.80+41A>C
n.2621+41A>C
c.2448+41A>C (n.2448+41A>C)
c.1938+41A>C (n.1938+41A>C)
c.378+41A>C (n.378+41A>C)
c.369+41A>C (n.369+41A>C)
n.2607+41A>C
 dbSNP gnomAD v2 gnomAD v4
2g.15424274T=CA2490889272NBASc.674+41A=
n.2590+41A=
c.2094+41A= (n.2094+41A=)
c.2577+41A= (n.2577+41A=)
c.78+41A= (n.78+41A=)
c.80+41A=
n.2621+41A=
c.2448+41A= (n.2448+41A=)
c.1938+41A= (n.1938+41A=)
c.378+41A= (n.378+41A=)
c.369+41A= (n.369+41A=)
n.2607+41A=
2g.15424276C=CA2490889273NBASc.674+39G=
n.2590+39G=
c.2094+39G= (n.2094+39G=)
c.2577+39G= (n.2577+39G=)
c.78+39G= (n.78+39G=)
c.80+39G=
n.2621+39G=
c.2448+39G= (n.2448+39G=)
c.1938+39G= (n.1938+39G=)
c.378+39G= (n.378+39G=)
c.369+39G= (n.369+39G=)
n.2607+39G=
2g.15424276C>TCA531034380NBASc.674+39G>A
n.2590+39G>A
c.2094+39G>A (n.2094+39G>A)
c.2577+39G>A (n.2577+39G>A)
c.78+39G>A (n.78+39G>A)
c.80+39G>A
n.2621+39G>A
c.2448+39G>A (n.2448+39G>A)
c.1938+39G>A (n.1938+39G>A)
c.378+39G>A (n.378+39G>A)
c.369+39G>A (n.369+39G>A)
n.2607+39G>A
 dbSNP gnomAD v2 gnomAD v4
2g.15424277A>CCA2657912153NBASc.674+38T>G
n.2590+38T>G
c.2094+38T>G (n.2094+38T>G)
c.2577+38T>G (n.2577+38T>G)
c.78+38T>G (n.78+38T>G)
c.80+38T>G
n.2621+38T>G
c.2448+38T>G (n.2448+38T>G)
c.1938+38T>G (n.1938+38T>G)
c.378+38T>G (n.378+38T>G)
c.369+38T>G (n.369+38T>G)
n.2607+38T>G
 gnomAD v4
2g.15424277A>GCA2657912154NBASc.674+38T>C
n.2590+38T>C
c.2094+38T>C (n.2094+38T>C)
c.2577+38T>C (n.2577+38T>C)
c.78+38T>C (n.78+38T>C)
c.80+38T>C
n.2621+38T>C
c.2448+38T>C (n.2448+38T>C)
c.1938+38T>C (n.1938+38T>C)
c.378+38T>C (n.378+38T>C)
c.369+38T>C (n.369+38T>C)
n.2607+38T>C
 gnomAD v4
2g.15424279T>CCA2657912155NBASc.674+36A>G
n.2590+36A>G
c.2094+36A>G (n.2094+36A>G)
c.2577+36A>G (n.2577+36A>G)
c.78+36A>G (n.78+36A>G)
c.80+36A>G
n.2621+36A>G
c.2448+36A>G (n.2448+36A>G)
c.1938+36A>G (n.1938+36A>G)
c.378+36A>G (n.378+36A>G)
c.369+36A>G (n.369+36A>G)
n.2607+36A>G
 gnomAD v4
2g.15424280A>TCA2698761655NBASc.674+35T>A
n.2590+35T>A
c.2094+35T>A (n.2094+35T>A)
c.2577+35T>A (n.2577+35T>A)
c.78+35T>A (n.78+35T>A)
c.80+35T>A
n.2621+35T>A
c.2448+35T>A (n.2448+35T>A)
c.1938+35T>A (n.1938+35T>A)
c.378+35T>A (n.378+35T>A)
c.369+35T>A (n.369+35T>A)
n.2607+35T>A
 dbSNP
2g.15424282C>ACA2657912156NBASc.674+33G>T
n.2590+33G>T
c.2094+33G>T (n.2094+33G>T)
c.2577+33G>T (n.2577+33G>T)
c.78+33G>T (n.78+33G>T)
c.80+33G>T
n.2621+33G>T
c.2448+33G>T (n.2448+33G>T)
c.1938+33G>T (n.1938+33G>T)
c.378+33G>T (n.378+33G>T)
c.369+33G>T (n.369+33G>T)
n.2607+33G>T
 gnomAD v4
2g.15424283A=CA2490889274NBASc.674+32T=
n.2590+32T=
c.2094+32T= (n.2094+32T=)
c.2577+32T= (n.2577+32T=)
c.78+32T= (n.78+32T=)
c.80+32T=
n.2621+32T=
c.2448+32T= (n.2448+32T=)
c.1938+32T= (n.1938+32T=)
c.378+32T= (n.378+32T=)
c.369+32T= (n.369+32T=)
n.2607+32T=
2g.15424283A>GCA1536315NBASc.674+32T>C
n.2590+32T>C
c.2094+32T>C (n.2094+32T>C)
c.2577+32T>C (n.2577+32T>C)
c.78+32T>C (n.78+32T>C)
c.80+32T>C
n.2621+32T>C
c.2448+32T>C (n.2448+32T>C)
c.1938+32T>C (n.1938+32T>C)
c.378+32T>C (n.378+32T>C)
c.369+32T>C (n.369+32T>C)
n.2607+32T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424283A>TCA1536316NBASc.674+32T>A
n.2590+32T>A
c.2094+32T>A (n.2094+32T>A)
c.2577+32T>A (n.2577+32T>A)
c.78+32T>A (n.78+32T>A)
c.80+32T>A
n.2621+32T>A
c.2448+32T>A (n.2448+32T>A)
c.1938+32T>A (n.1938+32T>A)
c.378+32T>A (n.378+32T>A)
c.369+32T>A (n.369+32T>A)
n.2607+32T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424284T>CCA531034381NBASc.674+31A>G
n.2590+31A>G
c.2094+31A>G (n.2094+31A>G)
c.2577+31A>G (n.2577+31A>G)
c.78+31A>G (n.78+31A>G)
c.80+31A>G
n.2621+31A>G
c.2448+31A>G (n.2448+31A>G)
c.1938+31A>G (n.1938+31A>G)
c.378+31A>G (n.378+31A>G)
c.369+31A>G (n.369+31A>G)
n.2607+31A>G
 dbSNP gnomAD v2 gnomAD v4
2g.15424284T=CA2490889275NBASc.674+31A=
n.2590+31A=
c.2094+31A= (n.2094+31A=)
c.2577+31A= (n.2577+31A=)
c.78+31A= (n.78+31A=)
c.80+31A=
n.2621+31A=
c.2448+31A= (n.2448+31A=)
c.1938+31A= (n.1938+31A=)
c.378+31A= (n.378+31A=)
c.369+31A= (n.369+31A=)
n.2607+31A=
2g.15424285delCA2576680925NBASc.674+31del
n.2590+31del
c.2094+31del (n.2094+31del)
c.2577+31del (n.2577+31del)
c.78+31del (n.78+31del)
c.80+31del
n.2621+31del
c.2448+31del (n.2448+31del)
c.1938+31del (n.1938+31del)
c.378+31del (n.378+31del)
c.369+31del (n.369+31del)
n.2607+31del
2g.15424285T>CCA2698761671NBASc.674+30A>G
n.2590+30A>G
c.2094+30A>G (n.2094+30A>G)
c.2577+30A>G (n.2577+30A>G)
c.78+30A>G (n.78+30A>G)
c.80+30A>G
n.2621+30A>G
c.2448+30A>G (n.2448+30A>G)
c.1938+30A>G (n.1938+30A>G)
c.378+30A>G (n.378+30A>G)
c.369+30A>G (n.369+30A>G)
n.2607+30A>G
 dbSNP
2g.15424287C=CA2490889276NBASc.674+28G=
n.2590+28G=
c.2094+28G= (n.2094+28G=)
c.2577+28G= (n.2577+28G=)
c.78+28G= (n.78+28G=)
c.80+28G=
n.2621+28G=
c.2448+28G= (n.2448+28G=)
c.1938+28G= (n.1938+28G=)
c.378+28G= (n.378+28G=)
c.369+28G= (n.369+28G=)
n.2607+28G=
2g.15424287C>TCA1536317NBASc.674+28G>A
n.2590+28G>A
c.2094+28G>A (n.2094+28G>A)
c.2577+28G>A (n.2577+28G>A)
c.78+28G>A (n.78+28G>A)
c.80+28G>A
n.2621+28G>A
c.2448+28G>A (n.2448+28G>A)
c.1938+28G>A (n.1938+28G>A)
c.378+28G>A (n.378+28G>A)
c.369+28G>A (n.369+28G>A)
n.2607+28G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424288T>CCA2657912157NBASc.674+27A>G
n.2590+27A>G
c.2094+27A>G (n.2094+27A>G)
c.2577+27A>G (n.2577+27A>G)
c.78+27A>G (n.78+27A>G)
c.80+27A>G
n.2621+27A>G
c.2448+27A>G (n.2448+27A>G)
c.1938+27A>G (n.1938+27A>G)
c.378+27A>G (n.378+27A>G)
c.369+27A>G (n.369+27A>G)
n.2607+27A>G
 gnomAD v4
2g.15424289G>TCA2657912158NBASc.674+26C>A
n.2590+26C>A
c.2094+26C>A (n.2094+26C>A)
c.2577+26C>A (n.2577+26C>A)
c.78+26C>A (n.78+26C>A)
c.80+26C>A
n.2621+26C>A
c.2448+26C>A (n.2448+26C>A)
c.1938+26C>A (n.1938+26C>A)
c.378+26C>A (n.378+26C>A)
c.369+26C>A (n.369+26C>A)
n.2607+26C>A
 gnomAD v4
2g.15424292C=CA2490889277NBASc.674+23G=
n.2590+23G=
c.2094+23G= (n.2094+23G=)
c.2577+23G= (n.2577+23G=)
c.78+23G= (n.78+23G=)
c.80+23G=
n.2621+23G=
c.2448+23G= (n.2448+23G=)
c.1938+23G= (n.1938+23G=)
c.378+23G= (n.378+23G=)
c.369+23G= (n.369+23G=)
n.2607+23G=
2g.15424292C>GCA2490889278NBASc.674+23G>C
n.2590+23G>C
c.2094+23G>C (n.2094+23G>C)
c.2577+23G>C (n.2577+23G>C)
c.78+23G>C (n.78+23G>C)
c.80+23G>C
n.2621+23G>C
c.2448+23G>C (n.2448+23G>C)
c.1938+23G>C (n.1938+23G>C)
c.378+23G>C (n.378+23G>C)
c.369+23G>C (n.369+23G>C)
n.2607+23G>C
 dbSNP gnomAD v4
2g.15424294_15424295insGTGCA2561187405NBASc.674+21_674+22insACC
n.2590+21_2590+22insACC
c.2094+21_2094+22insACC (n.2094+21_2094+22insACC)
c.2577+21_2577+22insACC (n.2577+21_2577+22insACC)
c.78+21_78+22insACC (n.78+21_78+22insACC)
c.80+21_80+22insACC
n.2621+21_2621+22insACC
c.2448+21_2448+22insACC (n.2448+21_2448+22insACC)
c.1938+21_1938+22insACC (n.1938+21_1938+22insACC)
c.378+21_378+22insACC (n.378+21_378+22insACC)
c.369+21_369+22insACC (n.369+21_369+22insACC)
n.2607+21_2607+22insACC
2g.15424295C>TCA2576680926NBASc.674+20G>A
n.2590+20G>A
c.2094+20G>A (n.2094+20G>A)
c.2577+20G>A (n.2577+20G>A)
c.78+20G>A (n.78+20G>A)
c.80+20G>A
n.2621+20G>A
c.2448+20G>A (n.2448+20G>A)
c.1938+20G>A (n.1938+20G>A)
c.378+20G>A (n.378+20G>A)
c.369+20G>A (n.369+20G>A)
n.2607+20G>A
2g.15424296A=CA2490889279NBASc.674+19T=
n.2590+19T=
c.2094+19T= (n.2094+19T=)
c.2577+19T= (n.2577+19T=)
c.78+19T= (n.78+19T=)
c.80+19T=
n.2621+19T=
c.2448+19T= (n.2448+19T=)
c.1938+19T= (n.1938+19T=)
c.378+19T= (n.378+19T=)
c.369+19T= (n.369+19T=)
n.2607+19T=
2g.15424296A>CCA42632388NBASc.674+19T>G
n.2590+19T>G
c.2094+19T>G (n.2094+19T>G)
c.2577+19T>G (n.2577+19T>G)
c.78+19T>G (n.78+19T>G)
c.80+19T>G
n.2621+19T>G
c.2448+19T>G (n.2448+19T>G)
c.1938+19T>G (n.1938+19T>G)
c.378+19T>G (n.378+19T>G)
c.369+19T>G (n.369+19T>G)
n.2607+19T>G
 dbSNP
2g.15424296_15424297insTAAAACA2542950444NBASc.674+19_674+20insTTTAT
n.2590+19_2590+20insTTTAT
c.2094+19_2094+20insTTTAT (n.2094+19_2094+20insTTTAT)
c.2577+19_2577+20insTTTAT (n.2577+19_2577+20insTTTAT)
c.78+19_78+20insTTTAT (n.78+19_78+20insTTTAT)
c.80+19_80+20insTTTAT
n.2621+19_2621+20insTTTAT
c.2448+19_2448+20insTTTAT (n.2448+19_2448+20insTTTAT)
c.1938+19_1938+20insTTTAT (n.1938+19_1938+20insTTTAT)
c.378+19_378+20insTTTAT (n.378+19_378+20insTTTAT)
c.369+19_369+20insTTTAT (n.369+19_369+20insTTTAT)
n.2607+19_2607+20insTTTAT
2g.15424297G>CCA2490889281NBASc.674+18C>G
n.2590+18C>G
c.2094+18C>G (n.2094+18C>G)
c.2577+18C>G (n.2577+18C>G)
c.78+18C>G (n.78+18C>G)
c.80+18C>G
n.2621+18C>G
c.2448+18C>G (n.2448+18C>G)
c.1938+18C>G (n.1938+18C>G)
c.378+18C>G (n.378+18C>G)
c.369+18C>G (n.369+18C>G)
n.2607+18C>G
 dbSNP
2g.15424297G=CA2490889280NBASc.674+18C=
n.2590+18C=
c.2094+18C= (n.2094+18C=)
c.2577+18C= (n.2577+18C=)
c.78+18C= (n.78+18C=)
c.80+18C=
n.2621+18C=
c.2448+18C= (n.2448+18C=)
c.1938+18C= (n.1938+18C=)
c.378+18C= (n.378+18C=)
c.369+18C= (n.369+18C=)
n.2607+18C=
2g.15424298C=CA2490889282NBASc.674+17G=
n.2590+17G=
c.2094+17G= (n.2094+17G=)
c.2577+17G= (n.2577+17G=)
c.78+17G= (n.78+17G=)
c.80+17G=
n.2621+17G=
c.2448+17G= (n.2448+17G=)
c.1938+17G= (n.1938+17G=)
c.378+17G= (n.378+17G=)
c.369+17G= (n.369+17G=)
n.2607+17G=
2g.15424298C>GCA2657912159NBASc.674+17G>C
n.2590+17G>C
c.2094+17G>C (n.2094+17G>C)
c.2577+17G>C (n.2577+17G>C)
c.78+17G>C (n.78+17G>C)
c.80+17G>C
n.2621+17G>C
c.2448+17G>C (n.2448+17G>C)
c.1938+17G>C (n.1938+17G>C)
c.378+17G>C (n.378+17G>C)
c.369+17G>C (n.369+17G>C)
n.2607+17G>C
 gnomAD v4
2g.15424298C>TCA1536318NBASc.674+17G>A
n.2590+17G>A
c.2094+17G>A (n.2094+17G>A)
c.2577+17G>A (n.2577+17G>A)
c.78+17G>A (n.78+17G>A)
c.80+17G>A
n.2621+17G>A
c.2448+17G>A (n.2448+17G>A)
c.1938+17G>A (n.1938+17G>A)
c.378+17G>A (n.378+17G>A)
c.369+17G>A (n.369+17G>A)
n.2607+17G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424300G>ACA2657912160NBASc.674+15C>T
n.2590+15C>T
c.2094+15C>T (n.2094+15C>T)
c.2577+15C>T (n.2577+15C>T)
c.78+15C>T (n.78+15C>T)
c.80+15C>T
n.2621+15C>T
c.2448+15C>T (n.2448+15C>T)
c.1938+15C>T (n.1938+15C>T)
c.378+15C>T (n.378+15C>T)
c.369+15C>T (n.369+15C>T)
n.2607+15C>T
 gnomAD v4
2g.15424301C=CA2490889283NBASc.674+14G=
n.2590+14G=
c.2094+14G= (n.2094+14G=)
c.2577+14G= (n.2577+14G=)
c.78+14G= (n.78+14G=)
c.80+14G=
n.2621+14G=
c.2448+14G= (n.2448+14G=)
c.1938+14G= (n.1938+14G=)
c.378+14G= (n.378+14G=)
c.369+14G= (n.369+14G=)
n.2607+14G=
2g.15424301C>TCA531034382NBASc.674+14G>A
n.2590+14G>A
c.2094+14G>A (n.2094+14G>A)
c.2577+14G>A (n.2577+14G>A)
c.78+14G>A (n.78+14G>A)
c.80+14G>A
n.2621+14G>A
c.2448+14G>A (n.2448+14G>A)
c.1938+14G>A (n.1938+14G>A)
c.378+14G>A (n.378+14G>A)
c.369+14G>A (n.369+14G>A)
n.2607+14G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.15424303A=CA2490889284NBASc.674+12T=
n.2590+12T=
c.2094+12T= (n.2094+12T=)
c.2577+12T= (n.2577+12T=)
c.78+12T= (n.78+12T=)
c.80+12T=
n.2621+12T=
c.2448+12T= (n.2448+12T=)
c.1938+12T= (n.1938+12T=)
c.378+12T= (n.378+12T=)
c.369+12T= (n.369+12T=)
n.2607+12T=
2g.15424303A>GCA2490889285NBASc.674+12T>C
n.2590+12T>C
c.2094+12T>C (n.2094+12T>C)
c.2577+12T>C (n.2577+12T>C)
c.78+12T>C (n.78+12T>C)
c.80+12T>C
n.2621+12T>C
c.2448+12T>C (n.2448+12T>C)
c.1938+12T>C (n.1938+12T>C)
c.378+12T>C (n.378+12T>C)
c.369+12T>C (n.369+12T>C)
n.2607+12T>C
 dbSNP
2g.15424304T>CCA2571687237NBASc.674+11A>G
n.2590+11A>G
c.2094+11A>G (n.2094+11A>G)
c.2577+11A>G (n.2577+11A>G)
c.78+11A>G (n.78+11A>G)
c.80+11A>G
n.2621+11A>G
c.2448+11A>G (n.2448+11A>G)
c.1938+11A>G (n.1938+11A>G)
c.378+11A>G (n.378+11A>G)
c.369+11A>G (n.369+11A>G)
n.2607+11A>G
2g.15424306T>ACA1536319NBASc.674+9A>T
n.2590+9A>T
c.2094+9A>T (n.2094+9A>T)
c.2577+9A>T (n.2577+9A>T)
c.78+9A>T (n.78+9A>T)
c.80+9A>T
n.2621+9A>T
c.2448+9A>T (n.2448+9A>T)
c.1938+9A>T (n.1938+9A>T)
c.378+9A>T (n.378+9A>T)
c.369+9A>T (n.369+9A>T)
n.2607+9A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424306T>CCA42632399NBASc.674+9A>G
n.2590+9A>G
c.2094+9A>G (n.2094+9A>G)
c.2577+9A>G (n.2577+9A>G)
c.78+9A>G (n.78+9A>G)
c.80+9A>G
n.2621+9A>G
c.2448+9A>G (n.2448+9A>G)
c.1938+9A>G (n.1938+9A>G)
c.378+9A>G (n.378+9A>G)
c.369+9A>G (n.369+9A>G)
n.2607+9A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15424306T=CA2490889286NBASc.674+9A=
n.2590+9A=
c.2094+9A= (n.2094+9A=)
c.2577+9A= (n.2577+9A=)
c.78+9A= (n.78+9A=)
c.80+9A=
n.2621+9A=
c.2448+9A= (n.2448+9A=)
c.1938+9A= (n.1938+9A=)
c.378+9A= (n.378+9A=)
c.369+9A= (n.369+9A=)
n.2607+9A=
2g.15424307C>ACA2657912161NBASc.674+8G>T
n.2590+8G>T
c.2094+8G>T (n.2094+8G>T)
c.2577+8G>T (n.2577+8G>T)
c.78+8G>T (n.78+8G>T)
c.80+8G>T
n.2621+8G>T
c.2448+8G>T (n.2448+8G>T)
c.1938+8G>T (n.1938+8G>T)
c.378+8G>T (n.378+8G>T)
c.369+8G>T (n.369+8G>T)
n.2607+8G>T
 gnomAD v4
2g.15424307C>TCA2657912162NBASc.674+8G>A
n.2590+8G>A
c.2094+8G>A (n.2094+8G>A)
c.2577+8G>A (n.2577+8G>A)
c.78+8G>A (n.78+8G>A)
c.80+8G>A
n.2621+8G>A
c.2448+8G>A (n.2448+8G>A)
c.1938+8G>A (n.1938+8G>A)
c.378+8G>A (n.378+8G>A)
c.369+8G>A (n.369+8G>A)
n.2607+8G>A
 gnomAD v4
2g.15424308C>TCA2657912163NBASc.674+7G>A
n.2590+7G>A
c.2094+7G>A (n.2094+7G>A)
c.2577+7G>A (n.2577+7G>A)
c.78+7G>A (n.78+7G>A)
c.80+7G>A
n.2621+7G>A
c.2448+7G>A (n.2448+7G>A)
c.1938+7G>A (n.1938+7G>A)
c.378+7G>A (n.378+7G>A)
c.369+7G>A (n.369+7G>A)
n.2607+7G>A
 gnomAD v4
2g.15424309C>TCA2576680927NBASc.674+6G>A
n.2590+6G>A
c.2094+6G>A (n.2094+6G>A)
c.2577+6G>A (n.2577+6G>A)
c.78+6G>A (n.78+6G>A)
c.80+6G>A
n.2621+6G>A
c.2448+6G>A (n.2448+6G>A)
c.1938+6G>A (n.1938+6G>A)
c.378+6G>A (n.378+6G>A)
c.369+6G>A (n.369+6G>A)
n.2607+6G>A
2g.15424310C>GCA2657912164NBASc.674+5G>C
n.2590+5G>C
c.2094+5G>C (n.2094+5G>C)
c.2577+5G>C (n.2577+5G>C)
c.78+5G>C (n.78+5G>C)
c.80+5G>C
n.2621+5G>C
c.2448+5G>C (n.2448+5G>C)
c.1938+5G>C (n.1938+5G>C)
c.378+5G>C (n.378+5G>C)
c.369+5G>C (n.369+5G>C)
n.2607+5G>C
 gnomAD v4
2g.15424313_15424332delCA2586968707NBASc.660_674+5del
n.2576_2590+5del
c.2080_2094+5del
c.2563_2577+5del
c.64_78+5del
c.66_80+5del
n.2607_2621+5del
c.2434_2448+5del
c.1924_1938+5del
c.364_378+5del
c.355_369+5del
n.2593_2607+5del
2g.15424311T>GCA759128435NBASc.674+4A>C
n.2590+4A>C
c.2094+4A>C (n.2094+4A>C)
c.2577+4A>C (n.2577+4A>C)
c.78+4A>C (n.78+4A>C)
c.80+4A>C
n.2621+4A>C
c.2448+4A>C (n.2448+4A>C)
c.1938+4A>C (n.1938+4A>C)
c.378+4A>C (n.378+4A>C)
c.369+4A>C (n.369+4A>C)
n.2607+4A>C
 dbSNP gnomAD v3 gnomAD v4
2g.15424311T=CA2490889287NBASc.674+4A=
n.2590+4A=
c.2094+4A= (n.2094+4A=)
c.2577+4A= (n.2577+4A=)
c.78+4A= (n.78+4A=)
c.80+4A=
n.2621+4A=
c.2448+4A= (n.2448+4A=)
c.1938+4A= (n.1938+4A=)
c.378+4A= (n.378+4A=)
c.369+4A= (n.369+4A=)
n.2607+4A=
2g.15424313A=CA2490889288NBASc.674+2T=
n.2590+2T=
c.2094+2T= (n.2094+2T=)
c.2577+2T= (n.2577+2T=)
c.78+2T= (n.78+2T=)
c.80+2T=
n.2621+2T=
c.2448+2T= (n.2448+2T=)
c.1938+2T= (n.1938+2T=)
c.378+2T= (n.378+2T=)
c.369+2T= (n.369+2T=)
n.2607+2T=
2g.15424313A>CCA345888872NBASc.674+2T>G
n.2590+2T>G
c.2094+2T>G (n.2094+2T>G)
c.2577+2T>G (n.2577+2T>G)
c.78+2T>G (n.78+2T>G)
c.80+2T>G
n.2621+2T>G
c.2448+2T>G (n.2448+2T>G)
c.1938+2T>G (n.1938+2T>G)
c.378+2T>G (n.378+2T>G)
c.369+2T>G (n.369+2T>G)
n.2607+2T>G
2g.15424313A>GCA345888880NBASc.674+2T>C
n.2590+2T>C
c.2094+2T>C (n.2094+2T>C)
c.2577+2T>C (n.2577+2T>C)
c.78+2T>C (n.78+2T>C)
c.80+2T>C
n.2621+2T>C
c.2448+2T>C (n.2448+2T>C)
c.1938+2T>C (n.1938+2T>C)
c.378+2T>C (n.378+2T>C)
c.369+2T>C (n.369+2T>C)
n.2607+2T>C
 ClinVar dbSNP gnomAD v4
2g.15424313A>TCA345888884NBASc.674+2T>A
n.2590+2T>A
c.2094+2T>A (n.2094+2T>A)
c.2577+2T>A (n.2577+2T>A)
c.78+2T>A (n.78+2T>A)
c.80+2T>A
n.2621+2T>A
c.2448+2T>A (n.2448+2T>A)
c.1938+2T>A (n.1938+2T>A)
c.378+2T>A (n.378+2T>A)
c.369+2T>A (n.369+2T>A)
n.2607+2T>A
2g.15424314C>ACA345888886NBASc.674+1G>T
n.2590+1G>T
c.2094+1G>T (n.2094+1G>T)
c.2577+1G>T (n.2577+1G>T)
c.78+1G>T (n.78+1G>T)
c.80+1G>T
n.2621+1G>T
c.2448+1G>T (n.2448+1G>T)
c.1938+1G>T (n.1938+1G>T)
c.378+1G>T (n.378+1G>T)
c.369+1G>T (n.369+1G>T)
n.2607+1G>T
 gnomAD v4
2g.15424314C=CA2490889289NBASc.674+1G=
n.2590+1G=
c.2094+1G= (n.2094+1G=)
c.2577+1G= (n.2577+1G=)
c.78+1G= (n.78+1G=)
c.80+1G=
n.2621+1G=
c.2448+1G= (n.2448+1G=)
c.1938+1G= (n.1938+1G=)
c.378+1G= (n.378+1G=)
c.369+1G= (n.369+1G=)
n.2607+1G=
2g.15424314C>GCA345888888NBASc.674+1G>C
n.2590+1G>C
c.2094+1G>C (n.2094+1G>C)
c.2577+1G>C (n.2577+1G>C)
c.78+1G>C (n.78+1G>C)
c.80+1G>C
n.2621+1G>C
c.2448+1G>C (n.2448+1G>C)
c.1938+1G>C (n.1938+1G>C)
c.378+1G>C (n.378+1G>C)
c.369+1G>C (n.369+1G>C)
n.2607+1G>C
 gnomAD v4
2g.15424314C>TCA345888894NBASc.674+1G>A
n.2590+1G>A
c.2094+1G>A (n.2094+1G>A)
c.2577+1G>A (n.2577+1G>A)
c.78+1G>A (n.78+1G>A)
c.80+1G>A
n.2621+1G>A
c.2448+1G>A (n.2448+1G>A)
c.1938+1G>A (n.1938+1G>A)
c.378+1G>A (n.378+1G>A)
c.369+1G>A (n.369+1G>A)
n.2607+1G>A
 dbSNP gnomAD v4
2g.15424315C>ACA345888906NBASc.674G>T
n.2590G>T
c.2094G>T (p.Gln698His)
c.2577G>T (p.Gln859His)
c.78G>T (p.Gln26His)
c.80G>T
n.2621G>T
c.2448G>T (p.Gln816His)
c.1938G>T (p.Gln646His)
c.378G>T (p.Gln126His)
c.369G>T (p.Gln123His)
n.2607G>T
2g.15424315C=CA2490889290NBASc.674G=
n.2590G=
c.2094G= (p.Gln698=)
c.2577G= (p.Gln859=)
c.78G= (p.Gln26=)
c.80G=
n.2621G=
c.2448G= (p.Gln816=)
c.1938G= (p.Gln646=)
c.378G= (p.Gln126=)
c.369G= (p.Gln123=)
n.2607G=
2g.15424315C>GCA42632401NBASc.674G>C
n.2590G>C
c.2094G>C (p.Gln698His)
c.2577G>C (p.Gln859His)
c.78G>C (p.Gln26His)
c.80G>C
n.2621G>C
c.2448G>C (p.Gln816His)
c.1938G>C (p.Gln646His)
c.378G>C (p.Gln126His)
c.369G>C (p.Gln123His)
n.2607G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.15424315C>TCA424870414NBASc.674G>A
n.2590G>A
c.2094G>A (p.Gln698=)
c.2577G>A (p.Gln859=)
c.78G>A (p.Gln26=)
c.80G>A
n.2621G>A
c.2448G>A (p.Gln816=)
c.1938G>A (p.Gln646=)
c.378G>A (p.Gln126=)
c.369G>A (p.Gln123=)
n.2607G>A
2g.15424316T>ACA345888919NBASc.673A>T
n.2589A>T
c.2093A>T (p.Gln698Leu)
c.2576A>T (p.Gln859Leu)
c.77A>T (p.Gln26Leu)
c.79A>T
n.2620A>T
c.2447A>T (p.Gln816Leu)
c.1937A>T (p.Gln646Leu)
c.377A>T (p.Gln126Leu)
c.368A>T (p.Gln123Leu)
n.2606A>T
2g.15424316T>CCA345888924NBASc.673A>G
n.2589A>G
c.2093A>G (p.Gln698Arg)
c.2576A>G (p.Gln859Arg)
c.77A>G (p.Gln26Arg)
c.79A>G
n.2620A>G
c.2447A>G (p.Gln816Arg)
c.1937A>G (p.Gln646Arg)
c.377A>G (p.Gln126Arg)
c.368A>G (p.Gln123Arg)
n.2606A>G
2g.15424316T>GCA345888926NBASc.673A>C
n.2589A>C
c.2093A>C (p.Gln698Pro)
c.2576A>C (p.Gln859Pro)
c.77A>C (p.Gln26Pro)
c.79A>C
n.2620A>C
c.2447A>C (p.Gln816Pro)
c.1937A>C (p.Gln646Pro)
c.377A>C (p.Gln126Pro)
c.368A>C (p.Gln123Pro)
n.2606A>C
2g.15424317G>ACA345888945NBASc.672C>T
n.2588C>T
c.2092C>T (p.Gln698Ter)
c.2575C>T (p.Gln859Ter)
c.76C>T (p.Gln26Ter)
c.78C>T
n.2619C>T
c.2446C>T (p.Gln816Ter)
c.1936C>T (p.Gln646Ter)
c.376C>T (p.Gln126Ter)
c.367C>T (p.Gln123Ter)
n.2605C>T
 dbSNP
2g.15424317G>CCA345888962NBASc.672C>G
n.2588C>G
c.2092C>G (p.Gln698Glu)
c.2575C>G (p.Gln859Glu)
c.76C>G (p.Gln26Glu)
c.78C>G
n.2619C>G
c.2446C>G (p.Gln816Glu)
c.1936C>G (p.Gln646Glu)
c.376C>G (p.Gln126Glu)
c.367C>G (p.Gln123Glu)
n.2605C>G
2g.15424317G>TCA345888968NBASc.672C>A
n.2588C>A
c.2092C>A (p.Gln698Lys)
c.2575C>A (p.Gln859Lys)
c.76C>A (p.Gln26Lys)
c.78C>A
n.2619C>A
c.2446C>A (p.Gln816Lys)
c.1936C>A (p.Gln646Lys)
c.376C>A (p.Gln126Lys)
c.367C>A (p.Gln123Lys)
n.2605C>A
 COSMIC
2g.15424318C>ACA424870417NBASc.671G>T
n.2587G>T
c.2091G>T (p.Arg697=)
c.2574G>T (p.Arg858=)
c.75G>T (p.Arg25=)
c.77G>T
n.2618G>T
c.2445G>T (p.Arg815=)
c.1935G>T (p.Arg645=)
c.375G>T (p.Arg125=)
c.366G>T (p.Arg122=)
n.2604G>T
 gnomAD v4
2g.15424318C=CA2490889291NBASc.671G=
n.2587G=
c.2091G= (p.Arg697=)
c.2574G= (p.Arg858=)
c.75G= (p.Arg25=)
c.77G=
n.2618G=
c.2445G= (p.Arg815=)
c.1935G= (p.Arg645=)
c.375G= (p.Arg125=)
c.366G= (p.Arg122=)
n.2604G=
2g.15424318C>GCA424870418NBASc.671G>C
n.2587G>C
c.2091G>C (p.Arg697=)
c.2574G>C (p.Arg858=)
c.75G>C (p.Arg25=)
c.77G>C
n.2618G>C
c.2445G>C (p.Arg815=)
c.1935G>C (p.Arg645=)
c.375G>C (p.Arg125=)
c.366G>C (p.Arg122=)
n.2604G>C
2g.15424318C>TCA424870419NBASc.671G>A
n.2587G>A
c.2091G>A (p.Arg697=)
c.2574G>A (p.Arg858=)
c.75G>A (p.Arg25=)
c.77G>A
n.2618G>A
c.2445G>A (p.Arg815=)
c.1935G>A (p.Arg645=)
c.375G>A (p.Arg125=)
c.366G>A (p.Arg122=)
n.2604G>A
 dbSNP gnomAD v4
2g.15424319C>ACA345888972NBASc.670G>T
n.2586G>T
c.2090G>T (p.Arg697Leu)
c.2573G>T (p.Arg858Leu)
c.74G>T (p.Arg25Leu)
c.76G>T
n.2617G>T
c.2444G>T (p.Arg815Leu)
c.1934G>T (p.Arg645Leu)
c.374G>T (p.Arg125Leu)
c.365G>T (p.Arg122Leu)
n.2603G>T
2g.15424319C=CA2490889292NBASc.670G=
n.2586G=
c.2090G= (p.Arg697=)
c.2573G= (p.Arg858=)
c.74G= (p.Arg25=)
c.76G=
n.2617G=
c.2444G= (p.Arg815=)
c.1934G= (p.Arg645=)
c.374G= (p.Arg125=)
c.365G= (p.Arg122=)
n.2603G=
2g.15424319C>GCA1536320NBASc.670G>C
n.2586G>C
c.2090G>C (p.Arg697Pro)
c.2573G>C (p.Arg858Pro)
c.74G>C (p.Arg25Pro)
c.76G>C
n.2617G>C
c.2444G>C (p.Arg815Pro)
c.1934G>C (p.Arg645Pro)
c.374G>C (p.Arg125Pro)
c.365G>C (p.Arg122Pro)
n.2603G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424319C>TCA345888982NBASc.670G>A
n.2586G>A
c.2090G>A (p.Arg697Gln)
c.2573G>A (p.Arg858Gln)
c.74G>A (p.Arg25Gln)
c.76G>A
n.2617G>A
c.2444G>A (p.Arg815Gln)
c.1934G>A (p.Arg645Gln)
c.374G>A (p.Arg125Gln)
c.365G>A (p.Arg122Gln)
n.2603G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15424320G>ACA1536321NBASc.669C>T
n.2585C>T
c.2089C>T (p.Arg697Trp)
c.2572C>T (p.Arg858Trp)
c.73C>T (p.Arg25Trp)
c.75C>T
n.2616C>T
c.2443C>T (p.Arg815Trp)
c.1933C>T (p.Arg645Trp)
c.373C>T (p.Arg125Trp)
c.364C>T (p.Arg122Trp)
n.2602C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15424320G>CCA345888989NBASc.669C>G
n.2585C>G
c.2089C>G (p.Arg697Gly)
c.2572C>G (p.Arg858Gly)
c.73C>G (p.Arg25Gly)
c.75C>G
n.2616C>G
c.2443C>G (p.Arg815Gly)
c.1933C>G (p.Arg645Gly)
c.373C>G (p.Arg125Gly)
c.364C>G (p.Arg122Gly)
n.2602C>G
2g.15424320G=CA2490889293NBASc.669C=
n.2585C=
c.2089C= (p.Arg697=)
c.2572C= (p.Arg858=)
c.73C= (p.Arg25=)
c.75C=
n.2616C=
c.2443C= (p.Arg815=)
c.1933C= (p.Arg645=)
c.373C= (p.Arg125=)
c.364C= (p.Arg122=)
n.2602C=
2g.15424320G>TCA424870421NBASc.669C>A
n.2585C>A
c.2089C>A (p.Arg697=)
c.2572C>A (p.Arg858=)
c.73C>A (p.Arg25=)
c.75C>A
n.2616C>A
c.2443C>A (p.Arg815=)
c.1933C>A (p.Arg645=)
c.373C>A (p.Arg125=)
c.364C>A (p.Arg122=)
n.2602C>A
 COSMIC
2g.15424321A=CA2490889294NBASc.668T=
n.2584T=
c.2088T= (p.Ala696=)
c.2571T= (p.Ala857=)
c.72T= (p.Ala24=)
c.74T=
n.2615T=
c.2442T= (p.Ala814=)
c.1932T= (p.Ala644=)
c.372T= (p.Ala124=)
c.363T= (p.Ala121=)
n.2601T=
2g.15424321A>CCA424870423NBASc.668T>G
n.2584T>G
c.2088T>G (p.Ala696=)
c.2571T>G (p.Ala857=)
c.72T>G (p.Ala24=)
c.74T>G
n.2615T>G
c.2442T>G (p.Ala814=)
c.1932T>G (p.Ala644=)
c.372T>G (p.Ala124=)
c.363T>G (p.Ala121=)
n.2601T>G
2g.15424321A>GCA1536322NBASc.668T>C
n.2584T>C
c.2088T>C (p.Ala696=)
c.2571T>C (p.Ala857=)
c.72T>C (p.Ala24=)
c.74T>C
n.2615T>C
c.2442T>C (p.Ala814=)
c.1932T>C (p.Ala644=)
c.372T>C (p.Ala124=)
c.363T>C (p.Ala121=)
n.2601T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424321A>TCA424870424NBASc.668T>A
n.2584T>A
c.2088T>A (p.Ala696=)
c.2571T>A (p.Ala857=)
c.72T>A (p.Ala24=)
c.74T>A
n.2615T>A
c.2442T>A (p.Ala814=)
c.1932T>A (p.Ala644=)
c.372T>A (p.Ala124=)
c.363T>A (p.Ala121=)
n.2601T>A
2g.15424321_15424347delinsAGCATAATGCTCTATTTCCTCTGCTCTCA2490889295NBASc.642_668delinsAGAGCAGAGGAAATAGAGCATTATGCT
n.2558_2584delinsAGAGCAGAGGAAATAGAGCATTATGCT
c.2062_2088delinsAGAGCAGAGGAAATAGAGCATTATGCT (p.Arg688=)
c.2545_2571delinsAGAGCAGAGGAAATAGAGCATTATGCT (p.Arg849=)
c.46_72delinsAGAGCAGAGGAAATAGAGCATTATGCT (p.Arg16=)
c.48_74delinsAGAGCAGAGGAAATAGAGCATTATGCT
n.2589_2615delinsAGAGCAGAGGAAATAGAGCATTATGCT
c.2416_2442delinsAGAGCAGAGGAAATAGAGCATTATGCT (p.Arg806=)
c.1906_1932delinsAGAGCAGAGGAAATAGAGCATTATGCT (p.Arg636=)
c.346_372delinsAGAGCAGAGGAAATAGAGCATTATGCT (p.Arg116=)
c.337_363delinsAGAGCAGAGGAAATAGAGCATTATGCT (p.Arg113=)
n.2575_2601delinsAGAGCAGAGGAAATAGAGCATTATGCT
2g.15424322G>ACA42632416NBASc.667C>T
n.2583C>T
c.2087C>T (p.Ala696Val)
c.2570C>T (p.Ala857Val)
c.71C>T (p.Ala24Val)
c.73C>T
n.2614C>T
c.2441C>T (p.Ala814Val)
c.1931C>T (p.Ala644Val)
c.371C>T (p.Ala124Val)
c.362C>T (p.Ala121Val)
n.2600C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.15424322G>CCA345889000NBASc.667C>G
n.2583C>G
c.2087C>G (p.Ala696Gly)
c.2570C>G (p.Ala857Gly)
c.71C>G (p.Ala24Gly)
c.73C>G
n.2614C>G
c.2441C>G (p.Ala814Gly)
c.1931C>G (p.Ala644Gly)
c.371C>G (p.Ala124Gly)
c.362C>G (p.Ala121Gly)
n.2600C>G
2g.15424322G=CA2490889297NBASc.667C=
n.2583C=
c.2087C= (p.Ala696=)
c.2570C= (p.Ala857=)
c.71C= (p.Ala24=)
c.73C=
n.2614C=
c.2441C= (p.Ala814=)
c.1931C= (p.Ala644=)
c.371C= (p.Ala124=)
c.362C= (p.Ala121=)
n.2600C=
2g.15424322G>TCA345888996NBASc.667C>A
n.2583C>A
c.2087C>A (p.Ala696Asp)
c.2570C>A (p.Ala857Asp)
c.71C>A (p.Ala24Asp)
c.73C>A
n.2614C>A
c.2441C>A (p.Ala814Asp)
c.1931C>A (p.Ala644Asp)
c.371C>A (p.Ala124Asp)
c.362C>A (p.Ala121Asp)
n.2600C>A
2g.15424323_15424348delCA2490889296NBASc.642_667del
n.2558_2583del
c.2062_2087del (p.Arg688SerfsTer26)
c.2545_2570del (p.Arg849SerfsTer26)
c.46_71del (p.Arg16SerfsTer10)
c.48_73del
n.2589_2614del
c.2416_2441del (p.Arg806SerfsTer26)
c.1906_1931del (p.Arg636SerfsTer26)
c.346_371del (p.Arg116SerfsTer26)
c.337_362del (p.Arg113SerfsTer26)
n.2575_2600del
 dbSNP gnomAD v4
2g.15424323C>ACA345889002NBASc.666G>T
n.2582G>T
c.2086G>T (p.Ala696Ser)
c.2569G>T (p.Ala857Ser)
c.70G>T (p.Ala24Ser)
c.72G>T
n.2613G>T
c.2440G>T (p.Ala814Ser)
c.1930G>T (p.Ala644Ser)
c.370G>T (p.Ala124Ser)
c.361G>T (p.Ala121Ser)
n.2599G>T
2g.15424323C>GCA345889004NBASc.666G>C
n.2582G>C
c.2086G>C (p.Ala696Pro)
c.2569G>C (p.Ala857Pro)
c.70G>C (p.Ala24Pro)
c.72G>C
n.2613G>C
c.2440G>C (p.Ala814Pro)
c.1930G>C (p.Ala644Pro)
c.370G>C (p.Ala124Pro)
c.361G>C (p.Ala121Pro)
n.2599G>C
2g.15424323C>TCA345889005NBASc.666G>A
n.2582G>A
c.2086G>A (p.Ala696Thr)
c.2569G>A (p.Ala857Thr)
c.70G>A (p.Ala24Thr)
c.72G>A
n.2613G>A
c.2440G>A (p.Ala814Thr)
c.1930G>A (p.Ala644Thr)
c.370G>A (p.Ala124Thr)
c.361G>A (p.Ala121Thr)
n.2599G>A
 gnomAD v4
2g.15424324A>CCA345889006NBASc.665T>G
n.2581T>G
c.2085T>G (p.Tyr695Ter)
c.2568T>G (p.Tyr856Ter)
c.69T>G (p.Tyr23Ter)
c.71T>G
n.2612T>G
c.2439T>G (p.Tyr813Ter)
c.1929T>G (p.Tyr643Ter)
c.369T>G (p.Tyr123Ter)
c.360T>G (p.Tyr120Ter)
n.2598T>G
2g.15424324A>GCA424870426NBASc.665T>C
n.2581T>C
c.2085T>C (p.Tyr695=)
c.2568T>C (p.Tyr856=)
c.69T>C (p.Tyr23=)
c.71T>C
n.2612T>C
c.2439T>C (p.Tyr813=)
c.1929T>C (p.Tyr643=)
c.369T>C (p.Tyr123=)
c.360T>C (p.Tyr120=)
n.2598T>C
2g.15424324A>TCA345889007NBASc.665T>A
n.2581T>A
c.2085T>A (p.Tyr695Ter)
c.2568T>A (p.Tyr856Ter)
c.69T>A (p.Tyr23Ter)
c.71T>A
n.2612T>A
c.2439T>A (p.Tyr813Ter)
c.1929T>A (p.Tyr643Ter)
c.369T>A (p.Tyr123Ter)
c.360T>A (p.Tyr120Ter)
n.2598T>A
2g.15424325T>ACA1536323NBASc.664A>T
n.2580A>T
c.2084A>T (p.Tyr695Phe)
c.2567A>T (p.Tyr856Phe)
c.68A>T (p.Tyr23Phe)
c.70A>T
n.2611A>T
c.2438A>T (p.Tyr813Phe)
c.1928A>T (p.Tyr643Phe)
c.368A>T (p.Tyr123Phe)
c.359A>T (p.Tyr120Phe)
n.2597A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424325T>CCA1536324NBASc.664A>G
n.2580A>G
c.2084A>G (p.Tyr695Cys)
c.2567A>G (p.Tyr856Cys)
c.68A>G (p.Tyr23Cys)
c.70A>G
n.2611A>G
c.2438A>G (p.Tyr813Cys)
c.1928A>G (p.Tyr643Cys)
c.368A>G (p.Tyr123Cys)
c.359A>G (p.Tyr120Cys)
n.2597A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424325T>GCA345889011NBASc.664A>C
n.2580A>C
c.2084A>C (p.Tyr695Ser)
c.2567A>C (p.Tyr856Ser)
c.68A>C (p.Tyr23Ser)
c.70A>C
n.2611A>C
c.2438A>C (p.Tyr813Ser)
c.1928A>C (p.Tyr643Ser)
c.368A>C (p.Tyr123Ser)
c.359A>C (p.Tyr120Ser)
n.2597A>C
2g.15424325T=CA2490889298NBASc.664A=
n.2580A=
c.2084A= (p.Tyr695=)
c.2567A= (p.Tyr856=)
c.68A= (p.Tyr23=)
c.70A=
n.2611A=
c.2438A= (p.Tyr813=)
c.1928A= (p.Tyr643=)
c.368A= (p.Tyr123=)
c.359A= (p.Tyr120=)
n.2597A=
2g.15424326A>CCA345889017NBASc.663T>G
n.2579T>G
c.2083T>G (p.Tyr695Asp)
c.2566T>G (p.Tyr856Asp)
c.67T>G (p.Tyr23Asp)
c.69T>G
n.2610T>G
c.2437T>G (p.Tyr813Asp)
c.1927T>G (p.Tyr643Asp)
c.367T>G (p.Tyr123Asp)
c.358T>G (p.Tyr120Asp)
n.2596T>G
 gnomAD v4
2g.15424326A>GCA345889018NBASc.663T>C
n.2579T>C
c.2083T>C (p.Tyr695His)
c.2566T>C (p.Tyr856His)
c.67T>C (p.Tyr23His)
c.69T>C
n.2610T>C
c.2437T>C (p.Tyr813His)
c.1927T>C (p.Tyr643His)
c.367T>C (p.Tyr123His)
c.358T>C (p.Tyr120His)
n.2596T>C
2g.15424326A>TCA345889024NBASc.663T>A
n.2579T>A
c.2083T>A (p.Tyr695Asn)
c.2566T>A (p.Tyr856Asn)
c.67T>A (p.Tyr23Asn)
c.69T>A
n.2610T>A
c.2437T>A (p.Tyr813Asn)
c.1927T>A (p.Tyr643Asn)
c.367T>A (p.Tyr123Asn)
c.358T>A (p.Tyr120Asn)
n.2596T>A
2g.15424327A=CA2490889299NBASc.662T=
n.2578T=
c.2082T= (p.His694=)
c.2565T= (p.His855=)
c.66T= (p.His22=)
c.68T=
n.2609T=
c.2436T= (p.His812=)
c.1926T= (p.His642=)
c.366T= (p.His122=)
c.357T= (p.His119=)
n.2595T=
2g.15424327A>CCA345889028NBASc.662T>G
n.2578T>G
c.2082T>G (p.His694Gln)
c.2565T>G (p.His855Gln)
c.66T>G (p.His22Gln)
c.68T>G
n.2609T>G
c.2436T>G (p.His812Gln)
c.1926T>G (p.His642Gln)
c.366T>G (p.His122Gln)
c.357T>G (p.His119Gln)
n.2595T>G
2g.15424327A>GCA1536325NBASc.662T>C
n.2578T>C
c.2082T>C (p.His694=)
c.2565T>C (p.His855=)
c.66T>C (p.His22=)
c.68T>C
n.2609T>C
c.2436T>C (p.His812=)
c.1926T>C (p.His642=)
c.366T>C (p.His122=)
c.357T>C (p.His119=)
n.2595T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424327A>TCA345889033NBASc.662T>A
n.2578T>A
c.2082T>A (p.His694Gln)
c.2565T>A (p.His855Gln)
c.66T>A (p.His22Gln)
c.68T>A
n.2609T>A
c.2436T>A (p.His812Gln)
c.1926T>A (p.His642Gln)
c.366T>A (p.His122Gln)
c.357T>A (p.His119Gln)
n.2595T>A
2g.15424328T>ACA345889037NBASc.661A>T
n.2577A>T
c.2081A>T (p.His694Leu)
c.2564A>T (p.His855Leu)
c.65A>T (p.His22Leu)
c.67A>T
n.2608A>T
c.2435A>T (p.His812Leu)
c.1925A>T (p.His642Leu)
c.365A>T (p.His122Leu)
c.356A>T (p.His119Leu)
n.2594A>T
2g.15424328T>CCA345889046NBASc.661A>G
n.2577A>G
c.2081A>G (p.His694Arg)
c.2564A>G (p.His855Arg)
c.65A>G (p.His22Arg)
c.67A>G
n.2608A>G
c.2435A>G (p.His812Arg)
c.1925A>G (p.His642Arg)
c.365A>G (p.His122Arg)
c.356A>G (p.His119Arg)
n.2594A>G
 dbSNP gnomAD v2 gnomAD v4
2g.15424328T>GCA345889044NBASc.661A>C
n.2577A>C
c.2081A>C (p.His694Pro)
c.2564A>C (p.His855Pro)
c.65A>C (p.His22Pro)
c.67A>C
n.2608A>C
c.2435A>C (p.His812Pro)
c.1925A>C (p.His642Pro)
c.365A>C (p.His122Pro)
c.356A>C (p.His119Pro)
n.2594A>C
2g.15424328T=CA2490889300NBASc.661A=
n.2577A=
c.2081A= (p.His694=)
c.2564A= (p.His855=)
c.65A= (p.His22=)
c.67A=
n.2608A=
c.2435A= (p.His812=)
c.1925A= (p.His642=)
c.365A= (p.His122=)
c.356A= (p.His119=)
n.2594A=
2g.15424329G>ACA345889053NBASc.660C>T
n.2576C>T
c.2080C>T (p.His694Tyr)
c.2563C>T (p.His855Tyr)
c.64C>T (p.His22Tyr)
c.66C>T
n.2607C>T
c.2434C>T (p.His812Tyr)
c.1924C>T (p.His642Tyr)
c.364C>T (p.His122Tyr)
c.355C>T (p.His119Tyr)
n.2593C>T
 dbSNP
2g.15424329G>CCA345889066NBASc.660C>G
n.2576C>G
c.2080C>G (p.His694Asp)
c.2563C>G (p.His855Asp)
c.64C>G (p.His22Asp)
c.66C>G
n.2607C>G
c.2434C>G (p.His812Asp)
c.1924C>G (p.His642Asp)
c.364C>G (p.His122Asp)
c.355C>G (p.His119Asp)
n.2593C>G
2g.15424329G=CA2490889301NBASc.660C=
n.2576C=
c.2080C= (p.His694=)
c.2563C= (p.His855=)
c.64C= (p.His22=)
c.66C=
n.2607C=
c.2434C= (p.His812=)
c.1924C= (p.His642=)
c.364C= (p.His122=)
c.355C= (p.His119=)
n.2593C=
2g.15424329G>TCA345889068NBASc.660C>A
n.2576C>A
c.2080C>A (p.His694Asn)
c.2563C>A (p.His855Asn)
c.64C>A (p.His22Asn)
c.66C>A
n.2607C>A
c.2434C>A (p.His812Asn)
c.1924C>A (p.His642Asn)
c.364C>A (p.His122Asn)
c.355C>A (p.His119Asn)
n.2593C>A
2g.15424330C>ACA345889070NBASc.659G>T
n.2575G>T
c.2079G>T (p.Glu693Asp)
c.2562G>T (p.Glu854Asp)
c.63G>T (p.Glu21Asp)
c.65G>T
n.2606G>T
c.2433G>T (p.Glu811Asp)
c.1923G>T (p.Glu641Asp)
c.363G>T (p.Glu121Asp)
c.354G>T (p.Glu118Asp)
n.2592G>T
2g.15424330C>GCA345889077NBASc.659G>C
n.2575G>C
c.2079G>C (p.Glu693Asp)
c.2562G>C (p.Glu854Asp)
c.63G>C (p.Glu21Asp)
c.65G>C
n.2606G>C
c.2433G>C (p.Glu811Asp)
c.1923G>C (p.Glu641Asp)
c.363G>C (p.Glu121Asp)
c.354G>C (p.Glu118Asp)
n.2592G>C
2g.15424330C>TCA424870431NBASc.659G>A
n.2575G>A
c.2079G>A (p.Glu693=)
c.2562G>A (p.Glu854=)
c.63G>A (p.Glu21=)
c.65G>A
n.2606G>A
c.2433G>A (p.Glu811=)
c.1923G>A (p.Glu641=)
c.363G>A (p.Glu121=)
c.354G>A (p.Glu118=)
n.2592G>A
 COSMIC
2g.15424331T>ACA345889084NBASc.658A>T
n.2574A>T
c.2078A>T (p.Glu693Val)
c.2561A>T (p.Glu854Val)
c.62A>T (p.Glu21Val)
c.64A>T
n.2605A>T
c.2432A>T (p.Glu811Val)
c.1922A>T (p.Glu641Val)
c.362A>T (p.Glu121Val)
c.353A>T (p.Glu118Val)
n.2591A>T
2g.15424331T>CCA345889085NBASc.658A>G
n.2574A>G
c.2078A>G (p.Glu693Gly)
c.2561A>G (p.Glu854Gly)
c.62A>G (p.Glu21Gly)
c.64A>G
n.2605A>G
c.2432A>G (p.Glu811Gly)
c.1922A>G (p.Glu641Gly)
c.362A>G (p.Glu121Gly)
c.353A>G (p.Glu118Gly)
n.2591A>G
2g.15424331T>GCA345889093NBASc.658A>C
n.2574A>C
c.2078A>C (p.Glu693Ala)
c.2561A>C (p.Glu854Ala)
c.62A>C (p.Glu21Ala)
c.64A>C
n.2605A>C
c.2432A>C (p.Glu811Ala)
c.1922A>C (p.Glu641Ala)
c.362A>C (p.Glu121Ala)
c.353A>C (p.Glu118Ala)
n.2591A>C
2g.15424332C>ACA345889098NBASc.657G>T
n.2573G>T
c.2077G>T (p.Glu693Ter)
c.2560G>T (p.Glu854Ter)
c.61G>T (p.Glu21Ter)
c.63G>T
n.2604G>T
c.2431G>T (p.Glu811Ter)
c.1921G>T (p.Glu641Ter)
c.361G>T (p.Glu121Ter)
c.352G>T (p.Glu118Ter)
n.2590G>T
2g.15424332C>GCA345889103NBASc.657G>C
n.2573G>C
c.2077G>C (p.Glu693Gln)
c.2560G>C (p.Glu854Gln)
c.61G>C (p.Glu21Gln)
c.63G>C
n.2604G>C
c.2431G>C (p.Glu811Gln)
c.1921G>C (p.Glu641Gln)
c.361G>C (p.Glu121Gln)
c.352G>C (p.Glu118Gln)
n.2590G>C
 COSMIC
2g.15424332C>TCA345889107NBASc.657G>A
n.2573G>A
c.2077G>A (p.Glu693Lys)
c.2560G>A (p.Glu854Lys)
c.61G>A (p.Glu21Lys)
c.63G>A
n.2604G>A
c.2431G>A (p.Glu811Lys)
c.1921G>A (p.Glu641Lys)
c.361G>A (p.Glu121Lys)
c.352G>A (p.Glu118Lys)
n.2590G>A
2g.15424333T>ACA424870437NBASc.656A>T
n.2572A>T
c.2076A>T (p.Ile692=)
c.2559A>T (p.Ile853=)
c.60A>T (p.Ile20=)
c.62A>T
n.2603A>T
c.2430A>T (p.Ile810=)
c.1920A>T (p.Ile640=)
c.360A>T (p.Ile120=)
c.351A>T (p.Ile117=)
n.2589A>T
2g.15424333T>CCA345889111NBASc.656A>G
n.2572A>G
c.2076A>G (p.Ile692Met)
c.2559A>G (p.Ile853Met)
c.60A>G (p.Ile20Met)
c.62A>G
n.2603A>G
c.2430A>G (p.Ile810Met)
c.1920A>G (p.Ile640Met)
c.360A>G (p.Ile120Met)
c.351A>G (p.Ile117Met)
n.2589A>G
2g.15424333T>GCA424870438NBASc.656A>C
n.2572A>C
c.2076A>C (p.Ile692=)
c.2559A>C (p.Ile853=)
c.60A>C (p.Ile20=)
c.62A>C
n.2603A>C
c.2430A>C (p.Ile810=)
c.1920A>C (p.Ile640=)
c.360A>C (p.Ile120=)
c.351A>C (p.Ile117=)
n.2589A>C
2g.15424334A=CA2490889302NBASc.655T=
n.2571T=
c.2075T= (p.Ile692=)
c.2558T= (p.Ile853=)
c.59T= (p.Ile20=)
c.61T=
n.2602T=
c.2429T= (p.Ile810=)
c.1919T= (p.Ile640=)
c.359T= (p.Ile120=)
c.350T= (p.Ile117=)
n.2588T=
2g.15424334A>CCA345889112NBASc.655T>G
n.2571T>G
c.2075T>G (p.Ile692Arg)
c.2558T>G (p.Ile853Arg)
c.59T>G (p.Ile20Arg)
c.61T>G
n.2602T>G
c.2429T>G (p.Ile810Arg)
c.1919T>G (p.Ile640Arg)
c.359T>G (p.Ile120Arg)
c.350T>G (p.Ile117Arg)
n.2588T>G
2g.15424334A>GCA1536326NBASc.655T>C
n.2571T>C
c.2075T>C (p.Ile692Thr)
c.2558T>C (p.Ile853Thr)
c.59T>C (p.Ile20Thr)
c.61T>C
n.2602T>C
c.2429T>C (p.Ile810Thr)
c.1919T>C (p.Ile640Thr)
c.359T>C (p.Ile120Thr)
c.350T>C (p.Ile117Thr)
n.2588T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424334A>TCA345889113NBASc.655T>A
n.2571T>A
c.2075T>A (p.Ile692Lys)
c.2558T>A (p.Ile853Lys)
c.59T>A (p.Ile20Lys)
c.61T>A
n.2602T>A
c.2429T>A (p.Ile810Lys)
c.1919T>A (p.Ile640Lys)
c.359T>A (p.Ile120Lys)
c.350T>A (p.Ile117Lys)
n.2588T>A
2g.15424335T>ACA345889118NBASc.654A>T
n.2570A>T
c.2074A>T (p.Ile692Leu)
c.2557A>T (p.Ile853Leu)
c.58A>T (p.Ile20Leu)
c.60A>T
n.2601A>T
c.2428A>T (p.Ile810Leu)
c.1918A>T (p.Ile640Leu)
c.358A>T (p.Ile120Leu)
c.349A>T (p.Ile117Leu)
n.2587A>T
2g.15424335T>CCA345889120NBASc.654A>G
n.2570A>G
c.2074A>G (p.Ile692Val)
c.2557A>G (p.Ile853Val)
c.58A>G (p.Ile20Val)
c.60A>G
n.2601A>G
c.2428A>G (p.Ile810Val)
c.1918A>G (p.Ile640Val)
c.358A>G (p.Ile120Val)
c.349A>G (p.Ile117Val)
n.2587A>G
2g.15424335T>GCA345889119NBASc.654A>C
n.2570A>C
c.2074A>C (p.Ile692Leu)
c.2557A>C (p.Ile853Leu)
c.58A>C (p.Ile20Leu)
c.60A>C
n.2601A>C
c.2428A>C (p.Ile810Leu)
c.1918A>C (p.Ile640Leu)
c.358A>C (p.Ile120Leu)
c.349A>C (p.Ile117Leu)
n.2587A>C
2g.15424336T>ACA345889121NBASc.653A>T
n.2569A>T
c.2073A>T (p.Glu691Asp)
c.2556A>T (p.Glu852Asp)
c.57A>T (p.Glu19Asp)
c.59A>T
n.2600A>T
c.2427A>T (p.Glu809Asp)
c.1917A>T (p.Glu639Asp)
c.357A>T (p.Glu119Asp)
c.348A>T (p.Glu116Asp)
n.2586A>T
2g.15424336T>CCA424870441NBASc.653A>G
n.2569A>G
c.2073A>G (p.Glu691=)
c.2556A>G (p.Glu852=)
c.57A>G (p.Glu19=)
c.59A>G
n.2600A>G
c.2427A>G (p.Glu809=)
c.1917A>G (p.Glu639=)
c.357A>G (p.Glu119=)
c.348A>G (p.Glu116=)
n.2586A>G
2g.15424336T>GCA345889122NBASc.653A>C
n.2569A>C
c.2073A>C (p.Glu691Asp)
c.2556A>C (p.Glu852Asp)
c.57A>C (p.Glu19Asp)
c.59A>C
n.2600A>C
c.2427A>C (p.Glu809Asp)
c.1917A>C (p.Glu639Asp)
c.357A>C (p.Glu119Asp)
c.348A>C (p.Glu116Asp)
n.2586A>C
2g.15424337T>ACA1536327NBASc.652A>T
n.2568A>T
c.2072A>T (p.Glu691Val)
c.2555A>T (p.Glu852Val)
c.56A>T (p.Glu19Val)
c.58A>T
n.2599A>T
c.2426A>T (p.Glu809Val)
c.1916A>T (p.Glu639Val)
c.356A>T (p.Glu119Val)
c.347A>T (p.Glu116Val)
n.2585A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424337T>CCA345889128NBASc.652A>G
n.2568A>G
c.2072A>G (p.Glu691Gly)
c.2555A>G (p.Glu852Gly)
c.56A>G (p.Glu19Gly)
c.58A>G
n.2599A>G
c.2426A>G (p.Glu809Gly)
c.1916A>G (p.Glu639Gly)
c.356A>G (p.Glu119Gly)
c.347A>G (p.Glu116Gly)
n.2585A>G
2g.15424337T>GCA345889138NBASc.652A>C
n.2568A>C
c.2072A>C (p.Glu691Ala)
c.2555A>C (p.Glu852Ala)
c.56A>C (p.Glu19Ala)
c.58A>C
n.2599A>C
c.2426A>C (p.Glu809Ala)
c.1916A>C (p.Glu639Ala)
c.356A>C (p.Glu119Ala)
c.347A>C (p.Glu116Ala)
n.2585A>C
 dbSNP
2g.15424337T=CA2490889303NBASc.652A=
n.2568A=
c.2072A= (p.Glu691=)
c.2555A= (p.Glu852=)
c.56A= (p.Glu19=)
c.58A=
n.2599A=
c.2426A= (p.Glu809=)
c.1916A= (p.Glu639=)
c.356A= (p.Glu119=)
c.347A= (p.Glu116=)
n.2585A=
2g.15424338C>ACA345889146NBASc.651G>T
n.2567G>T
c.2071G>T (p.Glu691Ter)
c.2554G>T (p.Glu852Ter)
c.55G>T (p.Glu19Ter)
c.57G>T
n.2598G>T
c.2425G>T (p.Glu809Ter)
c.1915G>T (p.Glu639Ter)
c.355G>T (p.Glu119Ter)
c.346G>T (p.Glu116Ter)
n.2584G>T
2g.15424338C>GCA345889151NBASc.651G>C
n.2567G>C
c.2071G>C (p.Glu691Gln)
c.2554G>C (p.Glu852Gln)
c.55G>C (p.Glu19Gln)
c.57G>C
n.2598G>C
c.2425G>C (p.Glu809Gln)
c.1915G>C (p.Glu639Gln)
c.355G>C (p.Glu119Gln)
c.346G>C (p.Glu116Gln)
n.2584G>C
2g.15424338C>TCA345889166NBASc.651G>A
n.2567G>A
c.2071G>A (p.Glu691Lys)
c.2554G>A (p.Glu852Lys)
c.55G>A (p.Glu19Lys)
c.57G>A
n.2598G>A
c.2425G>A (p.Glu809Lys)
c.1915G>A (p.Glu639Lys)
c.355G>A (p.Glu119Lys)
c.346G>A (p.Glu116Lys)
n.2584G>A
2g.15424339C>ACA345889171NBASc.650G>T
n.2566G>T
c.2070G>T (p.Glu690Asp)
c.2553G>T (p.Glu851Asp)
c.54G>T (p.Glu18Asp)
c.56G>T
n.2597G>T
c.2424G>T (p.Glu808Asp)
c.1914G>T (p.Glu638Asp)
c.354G>T (p.Glu118Asp)
c.345G>T (p.Glu115Asp)
n.2583G>T
2g.15424339C>GCA345889176NBASc.650G>C
n.2566G>C
c.2070G>C (p.Glu690Asp)
c.2553G>C (p.Glu851Asp)
c.54G>C (p.Glu18Asp)
c.56G>C
n.2597G>C
c.2424G>C (p.Glu808Asp)
c.1914G>C (p.Glu638Asp)
c.354G>C (p.Glu118Asp)
c.345G>C (p.Glu115Asp)
n.2583G>C
2g.15424339C>TCA424870445NBASc.650G>A
n.2566G>A
c.2070G>A (p.Glu690=)
c.2553G>A (p.Glu851=)
c.54G>A (p.Glu18=)
c.56G>A
n.2597G>A
c.2424G>A (p.Glu808=)
c.1914G>A (p.Glu638=)
c.354G>A (p.Glu118=)
c.345G>A (p.Glu115=)
n.2583G>A
2g.15424340T>ACA345889179NBASc.649A>T
n.2565A>T
c.2069A>T (p.Glu690Val)
c.2552A>T (p.Glu851Val)
c.53A>T (p.Glu18Val)
c.55A>T
n.2596A>T
c.2423A>T (p.Glu808Val)
c.1913A>T (p.Glu638Val)
c.353A>T (p.Glu118Val)
c.344A>T (p.Glu115Val)
n.2582A>T
2g.15424340T>CCA345889191NBASc.649A>G
n.2565A>G
c.2069A>G (p.Glu690Gly)
c.2552A>G (p.Glu851Gly)
c.53A>G (p.Glu18Gly)
c.55A>G
n.2596A>G
c.2423A>G (p.Glu808Gly)
c.1913A>G (p.Glu638Gly)
c.353A>G (p.Glu118Gly)
c.344A>G (p.Glu115Gly)
n.2582A>G
2g.15424340T>GCA345889195NBASc.649A>C
n.2565A>C
c.2069A>C (p.Glu690Ala)
c.2552A>C (p.Glu851Ala)
c.53A>C (p.Glu18Ala)
c.55A>C
n.2596A>C
c.2423A>C (p.Glu808Ala)
c.1913A>C (p.Glu638Ala)
c.353A>C (p.Glu118Ala)
c.344A>C (p.Glu115Ala)
n.2582A>C
2g.15424341C>ACA345889222NBASc.648G>T
n.2564G>T
c.2068G>T (p.Glu690Ter)
c.2551G>T (p.Glu851Ter)
c.52G>T (p.Glu18Ter)
c.54G>T
n.2595G>T
c.2422G>T (p.Glu808Ter)
c.1912G>T (p.Glu638Ter)
c.352G>T (p.Glu118Ter)
c.343G>T (p.Glu115Ter)
n.2581G>T
 gnomAD v4
2g.15424341C=CA2490889304NBASc.648G=
n.2564G=
c.2068G= (p.Glu690=)
c.2551G= (p.Glu851=)
c.52G= (p.Glu18=)
c.54G=
n.2595G=
c.2422G= (p.Glu808=)
c.1912G= (p.Glu638=)
c.352G= (p.Glu118=)
c.343G= (p.Glu115=)
n.2581G=
2g.15424341C>GCA345889217NBASc.648G>C
n.2564G>C
c.2068G>C (p.Glu690Gln)
c.2551G>C (p.Glu851Gln)
c.52G>C (p.Glu18Gln)
c.54G>C
n.2595G>C
c.2422G>C (p.Glu808Gln)
c.1912G>C (p.Glu638Gln)
c.352G>C (p.Glu118Gln)
c.343G>C (p.Glu115Gln)
n.2581G>C
2g.15424341C>TCA345889214NBASc.648G>A
n.2564G>A
c.2068G>A (p.Glu690Lys)
c.2551G>A (p.Glu851Lys)
c.52G>A (p.Glu18Lys)
c.54G>A
n.2595G>A
c.2422G>A (p.Glu808Lys)
c.1912G>A (p.Glu638Lys)
c.352G>A (p.Glu118Lys)
c.343G>A (p.Glu115Lys)
n.2581G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.15424342T>ACA424870447NBASc.647A>T
n.2563A>T
c.2067A>T (p.Ala689=)
c.2550A>T (p.Ala850=)
c.51A>T (p.Ala17=)
c.53A>T
n.2594A>T
c.2421A>T (p.Ala807=)
c.1911A>T (p.Ala637=)
c.351A>T (p.Ala117=)
c.342A>T (p.Ala114=)
n.2580A>T
2g.15424342T>CCA1536328NBASc.647A>G
n.2563A>G
c.2067A>G (p.Ala689=)
c.2550A>G (p.Ala850=)
c.51A>G (p.Ala17=)
c.53A>G
n.2594A>G
c.2421A>G (p.Ala807=)
c.1911A>G (p.Ala637=)
c.351A>G (p.Ala117=)
c.342A>G (p.Ala114=)
n.2580A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424342T>GCA424870449NBASc.647A>C
n.2563A>C
c.2067A>C (p.Ala689=)
c.2550A>C (p.Ala850=)
c.51A>C (p.Ala17=)
c.53A>C
n.2594A>C
c.2421A>C (p.Ala807=)
c.1911A>C (p.Ala637=)
c.351A>C (p.Ala117=)
c.342A>C (p.Ala114=)
n.2580A>C
2g.15424342T=CA2490889305NBASc.647A=
n.2563A=
c.2067A= (p.Ala689=)
c.2550A= (p.Ala850=)
c.51A= (p.Ala17=)
c.53A=
n.2594A=
c.2421A= (p.Ala807=)
c.1911A= (p.Ala637=)
c.351A= (p.Ala117=)
c.342A= (p.Ala114=)
n.2580A=
2g.15424343G>ACA345889232NBASc.646C>T
n.2562C>T
c.2066C>T (p.Ala689Val)
c.2549C>T (p.Ala850Val)
c.50C>T (p.Ala17Val)
c.52C>T
n.2593C>T
c.2420C>T (p.Ala807Val)
c.1910C>T (p.Ala637Val)
c.350C>T (p.Ala117Val)
c.341C>T (p.Ala114Val)
n.2579C>T
2g.15424343G>CCA345889235NBASc.646C>G
n.2562C>G
c.2066C>G (p.Ala689Gly)
c.2549C>G (p.Ala850Gly)
c.50C>G (p.Ala17Gly)
c.52C>G
n.2593C>G
c.2420C>G (p.Ala807Gly)
c.1910C>G (p.Ala637Gly)
c.350C>G (p.Ala117Gly)
c.341C>G (p.Ala114Gly)
n.2579C>G
 gnomAD v4
2g.15424343G>TCA345889237NBASc.646C>A
n.2562C>A
c.2066C>A (p.Ala689Glu)
c.2549C>A (p.Ala850Glu)
c.50C>A (p.Ala17Glu)
c.52C>A
n.2593C>A
c.2420C>A (p.Ala807Glu)
c.1910C>A (p.Ala637Glu)
c.350C>A (p.Ala117Glu)
c.341C>A (p.Ala114Glu)
n.2579C>A
2g.15424344C>ACA345889241NBASc.645G>T
n.2561G>T
c.2065G>T (p.Ala689Ser)
c.2548G>T (p.Ala850Ser)
c.49G>T (p.Ala17Ser)
c.51G>T
n.2592G>T
c.2419G>T (p.Ala807Ser)
c.1909G>T (p.Ala637Ser)
c.349G>T (p.Ala117Ser)
c.340G>T (p.Ala114Ser)
n.2578G>T
2g.15424344C>GCA345889247NBASc.645G>C
n.2561G>C
c.2065G>C (p.Ala689Pro)
c.2548G>C (p.Ala850Pro)
c.49G>C (p.Ala17Pro)
c.51G>C
n.2592G>C
c.2419G>C (p.Ala807Pro)
c.1909G>C (p.Ala637Pro)
c.349G>C (p.Ala117Pro)
c.340G>C (p.Ala114Pro)
n.2578G>C
2g.15424344C>TCA345889256NBASc.645G>A
n.2561G>A
c.2065G>A (p.Ala689Thr)
c.2548G>A (p.Ala850Thr)
c.49G>A (p.Ala17Thr)
c.51G>A
n.2592G>A
c.2419G>A (p.Ala807Thr)
c.1909G>A (p.Ala637Thr)
c.349G>A (p.Ala117Thr)
c.340G>A (p.Ala114Thr)
n.2578G>A
2g.15424345T>ACA345889257NBASc.644A>T
n.2560A>T
c.2064A>T (p.Arg688Ser)
c.2547A>T (p.Arg849Ser)
c.48A>T (p.Arg16Ser)
c.50A>T
n.2591A>T
c.2418A>T (p.Arg806Ser)
c.1908A>T (p.Arg636Ser)
c.348A>T (p.Arg116Ser)
c.339A>T (p.Arg113Ser)
n.2577A>T
2g.15424345T>CCA424870458NBASc.644A>G
n.2560A>G
c.2064A>G (p.Arg688=)
c.2547A>G (p.Arg849=)
c.48A>G (p.Arg16=)
c.50A>G
n.2591A>G
c.2418A>G (p.Arg806=)
c.1908A>G (p.Arg636=)
c.348A>G (p.Arg116=)
c.339A>G (p.Arg113=)
n.2577A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.15424345T>GCA345889258NBASc.644A>C
n.2560A>C
c.2064A>C (p.Arg688Ser)
c.2547A>C (p.Arg849Ser)
c.48A>C (p.Arg16Ser)
c.50A>C
n.2591A>C
c.2418A>C (p.Arg806Ser)
c.1908A>C (p.Arg636Ser)
c.348A>C (p.Arg116Ser)
c.339A>C (p.Arg113Ser)
n.2577A>C
2g.15424345T=CA2490889306NBASc.644A=
n.2560A=
c.2064A= (p.Arg688=)
c.2547A= (p.Arg849=)
c.48A= (p.Arg16=)
c.50A=
n.2591A=
c.2418A= (p.Arg806=)
c.1908A= (p.Arg636=)
c.348A= (p.Arg116=)
c.339A= (p.Arg113=)
n.2577A=
2g.15424346C>ACA345889259NBASc.643G>T
n.2559G>T
c.2063G>T (p.Arg688Ile)
c.2546G>T (p.Arg849Ile)
c.47G>T (p.Arg16Ile)
c.49G>T
n.2590G>T
c.2417G>T (p.Arg806Ile)
c.1907G>T (p.Arg636Ile)
c.347G>T (p.Arg116Ile)
c.338G>T (p.Arg113Ile)
n.2576G>T
 ClinVar dbSNP
2g.15424346C>GCA345889264NBASc.643G>C
n.2559G>C
c.2063G>C (p.Arg688Thr)
c.2546G>C (p.Arg849Thr)
c.47G>C (p.Arg16Thr)
c.49G>C
n.2590G>C
c.2417G>C (p.Arg806Thr)
c.1907G>C (p.Arg636Thr)
c.347G>C (p.Arg116Thr)
c.338G>C (p.Arg113Thr)
n.2576G>C
2g.15424346C>TCA345889268NBASc.643G>A
n.2559G>A
c.2063G>A (p.Arg688Lys)
c.2546G>A (p.Arg849Lys)
c.47G>A (p.Arg16Lys)
c.49G>A
n.2590G>A
c.2417G>A (p.Arg806Lys)
c.1907G>A (p.Arg636Lys)
c.347G>A (p.Arg116Lys)
c.338G>A (p.Arg113Lys)
n.2576G>A
2g.15424347T>ACA345889272NBASc.642A>T
n.2558A>T
c.2062A>T (p.Arg688Ter)
c.2545A>T (p.Arg849Ter)
c.46A>T (p.Arg16Ter)
c.48A>T
n.2589A>T
c.2416A>T (p.Arg806Ter)
c.1906A>T (p.Arg636Ter)
c.346A>T (p.Arg116Ter)
c.337A>T (p.Arg113Ter)
n.2575A>T
2g.15424347T>CCA345889276NBASc.642A>G
n.2558A>G
c.2062A>G (p.Arg688Gly)
c.2545A>G (p.Arg849Gly)
c.46A>G (p.Arg16Gly)
c.48A>G
n.2589A>G
c.2416A>G (p.Arg806Gly)
c.1906A>G (p.Arg636Gly)
c.346A>G (p.Arg116Gly)
c.337A>G (p.Arg113Gly)
n.2575A>G
2g.15424347T>GCA424870462NBASc.642A>C
n.2558A>C
c.2062A>C (p.Arg688=)
c.2545A>C (p.Arg849=)
c.46A>C (p.Arg16=)
c.48A>C
n.2589A>C
c.2416A>C (p.Arg806=)
c.1906A>C (p.Arg636=)
c.346A>C (p.Arg116=)
c.337A>C (p.Arg113=)
n.2575A>C
2g.15424348G>ACA1536329NBASc.641C>T
n.2557C>T
c.2061C>T (p.Thr687=)
c.2544C>T (p.Thr848=)
c.45C>T (p.Thr15=)
c.47C>T
n.2588C>T
c.2415C>T (p.Thr805=)
c.1905C>T (p.Thr635=)
c.345C>T (p.Thr115=)
c.336C>T (p.Thr112=)
n.2574C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424348G>CCA424870463NBASc.641C>G
n.2557C>G
c.2061C>G (p.Thr687=)
c.2544C>G (p.Thr848=)
c.45C>G (p.Thr15=)
c.47C>G
n.2588C>G
c.2415C>G (p.Thr805=)
c.1905C>G (p.Thr635=)
c.345C>G (p.Thr115=)
c.336C>G (p.Thr112=)
n.2574C>G
 ClinVar
2g.15424348G=CA2490889307NBASc.641C=
n.2557C=
c.2061C= (p.Thr687=)
c.2544C= (p.Thr848=)
c.45C= (p.Thr15=)
c.47C=
n.2588C=
c.2415C= (p.Thr805=)
c.1905C= (p.Thr635=)
c.345C= (p.Thr115=)
c.336C= (p.Thr112=)
n.2574C=
2g.15424348G>TCA424870464NBASc.641C>A
n.2557C>A
c.2061C>A (p.Thr687=)
c.2544C>A (p.Thr848=)
c.45C>A (p.Thr15=)
c.47C>A
n.2588C>A
c.2415C>A (p.Thr805=)
c.1905C>A (p.Thr635=)
c.345C>A (p.Thr115=)
c.336C>A (p.Thr112=)
n.2574C>A
2g.15424349G>ACA1536330NBASc.640C>T
n.2556C>T
c.2060C>T (p.Thr687Ile)
c.2543C>T (p.Thr848Ile)
c.44C>T (p.Thr15Ile)
c.46C>T
n.2587C>T
c.2414C>T (p.Thr805Ile)
c.1904C>T (p.Thr635Ile)
c.344C>T (p.Thr115Ile)
c.335C>T (p.Thr112Ile)
n.2573C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424349G>CCA345889288NBASc.640C>G
n.2556C>G
c.2060C>G (p.Thr687Ser)
c.2543C>G (p.Thr848Ser)
c.44C>G (p.Thr15Ser)
c.46C>G
n.2587C>G
c.2414C>G (p.Thr805Ser)
c.1904C>G (p.Thr635Ser)
c.344C>G (p.Thr115Ser)
c.335C>G (p.Thr112Ser)
n.2573C>G
2g.15424349G=CA2490889308NBASc.640C=
n.2556C=
c.2060C= (p.Thr687=)
c.2543C= (p.Thr848=)
c.44C= (p.Thr15=)
c.46C=
n.2587C=
c.2414C= (p.Thr805=)
c.1904C= (p.Thr635=)
c.344C= (p.Thr115=)
c.335C= (p.Thr112=)
n.2573C=
2g.15424349G>TCA345889295NBASc.640C>A
n.2556C>A
c.2060C>A (p.Thr687Asn)
c.2543C>A (p.Thr848Asn)
c.44C>A (p.Thr15Asn)
c.46C>A
n.2587C>A
c.2414C>A (p.Thr805Asn)
c.1904C>A (p.Thr635Asn)
c.344C>A (p.Thr115Asn)
c.335C>A (p.Thr112Asn)
n.2573C>A
2g.15424350T>ACA345889299NBASc.639A>T
n.2555A>T
c.2059A>T (p.Thr687Ser)
c.2542A>T (p.Thr848Ser)
c.43A>T (p.Thr15Ser)
c.45A>T
n.2586A>T
c.2413A>T (p.Thr805Ser)
c.1903A>T (p.Thr635Ser)
c.343A>T (p.Thr115Ser)
c.334A>T (p.Thr112Ser)
n.2572A>T
 dbSNP gnomAD v4
2g.15424350T>CCA345889303NBASc.639A>G
n.2555A>G
c.2059A>G (p.Thr687Ala)
c.2542A>G (p.Thr848Ala)
c.43A>G (p.Thr15Ala)
c.45A>G
n.2586A>G
c.2413A>G (p.Thr805Ala)
c.1903A>G (p.Thr635Ala)
c.343A>G (p.Thr115Ala)
c.334A>G (p.Thr112Ala)
n.2572A>G
2g.15424350T>GCA345889307NBASc.639A>C
n.2555A>C
c.2059A>C (p.Thr687Pro)
c.2542A>C (p.Thr848Pro)
c.43A>C (p.Thr15Pro)
c.45A>C
n.2586A>C
c.2413A>C (p.Thr805Pro)
c.1903A>C (p.Thr635Pro)
c.343A>C (p.Thr115Pro)
c.334A>C (p.Thr112Pro)
n.2572A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15424350T=CA2490889309NBASc.639A=
n.2555A=
c.2059A= (p.Thr687=)
c.2542A= (p.Thr848=)
c.43A= (p.Thr15=)
c.45A=
n.2586A=
c.2413A= (p.Thr805=)
c.1903A= (p.Thr635=)
c.343A= (p.Thr115=)
c.334A= (p.Thr112=)
n.2572A=
2g.15424351C>ACA345889312NBASc.638G>T
n.2554G>T
c.2058G>T (p.Gln686His)
c.2541G>T (p.Gln847His)
c.42G>T (p.Gln14His)
c.44G>T
n.2585G>T
c.2412G>T (p.Gln804His)
c.1902G>T (p.Gln634His)
c.342G>T (p.Gln114His)
c.333G>T (p.Gln111His)
n.2571G>T
 COSMIC
2g.15424351C>GCA345889319NBASc.638G>C
n.2554G>C
c.2058G>C (p.Gln686His)
c.2541G>C (p.Gln847His)
c.42G>C (p.Gln14His)
c.44G>C
n.2585G>C
c.2412G>C (p.Gln804His)
c.1902G>C (p.Gln634His)
c.342G>C (p.Gln114His)
c.333G>C (p.Gln111His)
n.2571G>C
 gnomAD v4
2g.15424351C>TCA424870470NBASc.638G>A
n.2554G>A
c.2058G>A (p.Gln686=)
c.2541G>A (p.Gln847=)
c.42G>A (p.Gln14=)
c.44G>A
n.2585G>A
c.2412G>A (p.Gln804=)
c.1902G>A (p.Gln634=)
c.342G>A (p.Gln114=)
c.333G>A (p.Gln111=)
n.2571G>A
2g.15424352T>ACA345889322NBASc.637A>T
n.2553A>T
c.2057A>T (p.Gln686Leu)
c.2540A>T (p.Gln847Leu)
c.41A>T (p.Gln14Leu)
c.43A>T
n.2584A>T
c.2411A>T (p.Gln804Leu)
c.1901A>T (p.Gln634Leu)
c.341A>T (p.Gln114Leu)
c.332A>T (p.Gln111Leu)
n.2570A>T
2g.15424352T>CCA345889324NBASc.637A>G
n.2553A>G
c.2057A>G (p.Gln686Arg)
c.2540A>G (p.Gln847Arg)
c.41A>G (p.Gln14Arg)
c.43A>G
n.2584A>G
c.2411A>G (p.Gln804Arg)
c.1901A>G (p.Gln634Arg)
c.341A>G (p.Gln114Arg)
c.332A>G (p.Gln111Arg)
n.2570A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15424352T>GCA345889329NBASc.637A>C
n.2553A>C
c.2057A>C (p.Gln686Pro)
c.2540A>C (p.Gln847Pro)
c.41A>C (p.Gln14Pro)
c.43A>C
n.2584A>C
c.2411A>C (p.Gln804Pro)
c.1901A>C (p.Gln634Pro)
c.341A>C (p.Gln114Pro)
c.332A>C (p.Gln111Pro)
n.2570A>C
2g.15424352T=CA2490889310NBASc.637A=
n.2553A=
c.2057A= (p.Gln686=)
c.2540A= (p.Gln847=)
c.41A= (p.Gln14=)
c.43A=
n.2584A=
c.2411A= (p.Gln804=)
c.1901A= (p.Gln634=)
c.341A= (p.Gln114=)
c.332A= (p.Gln111=)
n.2570A=
2g.15424353G>ACA345889358NBASc.636C>T
n.2552C>T
c.2056C>T (p.Gln686Ter)
c.2539C>T (p.Gln847Ter)
c.40C>T (p.Gln14Ter)
c.42C>T
n.2583C>T
c.2410C>T (p.Gln804Ter)
c.1900C>T (p.Gln634Ter)
c.340C>T (p.Gln114Ter)
c.331C>T (p.Gln111Ter)
n.2569C>T
2g.15424353G>CCA345889346NBASc.636C>G
n.2552C>G
c.2056C>G (p.Gln686Glu)
c.2539C>G (p.Gln847Glu)
c.40C>G (p.Gln14Glu)
c.42C>G
n.2583C>G
c.2410C>G (p.Gln804Glu)
c.1900C>G (p.Gln634Glu)
c.340C>G (p.Gln114Glu)
c.331C>G (p.Gln111Glu)
n.2569C>G
 dbSNP gnomAD v3 gnomAD v4
2g.15424353G=CA2490889311NBASc.636C=
n.2552C=
c.2056C= (p.Gln686=)
c.2539C= (p.Gln847=)
c.40C= (p.Gln14=)
c.42C=
n.2583C=
c.2410C= (p.Gln804=)
c.1900C= (p.Gln634=)
c.340C= (p.Gln114=)
c.331C= (p.Gln111=)
n.2569C=
2g.15424353G>TCA345889347NBASc.636C>A
n.2552C>A
c.2056C>A (p.Gln686Lys)
c.2539C>A (p.Gln847Lys)
c.40C>A (p.Gln14Lys)
c.42C>A
n.2583C>A
c.2410C>A (p.Gln804Lys)
c.1900C>A (p.Gln634Lys)
c.340C>A (p.Gln114Lys)
c.331C>A (p.Gln111Lys)
n.2569C>A
2g.15424354A>CCA345889376NBASc.635T>G
n.2551T>G
c.2055T>G (p.Tyr685Ter)
c.2538T>G (p.Tyr846Ter)
c.39T>G (p.Tyr13Ter)
c.41T>G
n.2582T>G
c.2409T>G (p.Tyr803Ter)
c.1899T>G (p.Tyr633Ter)
c.339T>G (p.Tyr113Ter)
c.330T>G (p.Tyr110Ter)
n.2568T>G
2g.15424354A>GCA424870474NBASc.635T>C
n.2551T>C
c.2055T>C (p.Tyr685=)
c.2538T>C (p.Tyr846=)
c.39T>C (p.Tyr13=)
c.41T>C
n.2582T>C
c.2409T>C (p.Tyr803=)
c.1899T>C (p.Tyr633=)
c.339T>C (p.Tyr113=)
c.330T>C (p.Tyr110=)
n.2568T>C
2g.15424354A>TCA345889379NBASc.635T>A
n.2551T>A
c.2055T>A (p.Tyr685Ter)
c.2538T>A (p.Tyr846Ter)
c.39T>A (p.Tyr13Ter)
c.41T>A
n.2582T>A
c.2409T>A (p.Tyr803Ter)
c.1899T>A (p.Tyr633Ter)
c.339T>A (p.Tyr113Ter)
c.330T>A (p.Tyr110Ter)
n.2568T>A
2g.15424355T>ACA345889393NBASc.634A>T
n.2550A>T
c.2054A>T (p.Tyr685Phe)
c.2537A>T (p.Tyr846Phe)
c.38A>T (p.Tyr13Phe)
c.40A>T
n.2581A>T
c.2408A>T (p.Tyr803Phe)
c.1898A>T (p.Tyr633Phe)
c.338A>T (p.Tyr113Phe)
c.329A>T (p.Tyr110Phe)
n.2567A>T
2g.15424355T>CCA1536331NBASc.634A>G
n.2550A>G
c.2054A>G (p.Tyr685Cys)
c.2537A>G (p.Tyr846Cys)
c.38A>G (p.Tyr13Cys)
c.40A>G
n.2581A>G
c.2408A>G (p.Tyr803Cys)
c.1898A>G (p.Tyr633Cys)
c.338A>G (p.Tyr113Cys)
c.329A>G (p.Tyr110Cys)
n.2567A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424355T>GCA345889401NBASc.634A>C
n.2550A>C
c.2054A>C (p.Tyr685Ser)
c.2537A>C (p.Tyr846Ser)
c.38A>C (p.Tyr13Ser)
c.40A>C
n.2581A>C
c.2408A>C (p.Tyr803Ser)
c.1898A>C (p.Tyr633Ser)
c.338A>C (p.Tyr113Ser)
c.329A>C (p.Tyr110Ser)
n.2567A>C
2g.15424355T=CA2490889312NBASc.634A=
n.2550A=
c.2054A= (p.Tyr685=)
c.2537A= (p.Tyr846=)
c.38A= (p.Tyr13=)
c.40A=
n.2581A=
c.2408A= (p.Tyr803=)
c.1898A= (p.Tyr633=)
c.338A= (p.Tyr113=)
c.329A= (p.Tyr110=)
n.2567A=
2g.15424355_15424356delinsTACA2490889313NBASc.633_634delinsTA
n.2549_2550delinsTA
c.2053_2054delinsTA (p.Tyr685=)
c.2536_2537delinsTA (p.Tyr846=)
c.37_38delinsTA (p.Tyr13=)
c.39_40delinsTA
n.2580_2581delinsTA
c.2407_2408delinsTA (p.Tyr803=)
c.1897_1898delinsTA (p.Tyr633=)
c.337_338delinsTA (p.Tyr113=)
c.328_329delinsTA (p.Tyr110=)
n.2566_2567delinsTA
2g.15424356delCA2490889314NBASc.633del
n.2549del
c.2053del (p.Tyr685IlefsTer8)
c.2536del (p.Tyr846IlefsTer8)
c.37del (p.Tyr13IlefsTer8)
c.39del
n.2580del
c.2407del (p.Tyr803IlefsTer8)
c.1897del (p.Tyr633IlefsTer8)
c.337del (p.Tyr113IlefsTer8)
c.328del (p.Tyr110IlefsTer8)
n.2566del
 dbSNP
2g.15424356A>CCA345889406NBASc.633T>G
n.2549T>G
c.2053T>G (p.Tyr685Asp)
c.2536T>G (p.Tyr846Asp)
c.37T>G (p.Tyr13Asp)
c.39T>G
n.2580T>G
c.2407T>G (p.Tyr803Asp)
c.1897T>G (p.Tyr633Asp)
c.337T>G (p.Tyr113Asp)
c.328T>G (p.Tyr110Asp)
n.2566T>G
 gnomAD v4
2g.15424356A>GCA345889408NBASc.633T>C
n.2549T>C
c.2053T>C (p.Tyr685His)
c.2536T>C (p.Tyr846His)
c.37T>C (p.Tyr13His)
c.39T>C
n.2580T>C
c.2407T>C (p.Tyr803His)
c.1897T>C (p.Tyr633His)
c.337T>C (p.Tyr113His)
c.328T>C (p.Tyr110His)
n.2566T>C
2g.15424356A>TCA345889412NBASc.633T>A
n.2549T>A
c.2053T>A (p.Tyr685Asn)
c.2536T>A (p.Tyr846Asn)
c.37T>A (p.Tyr13Asn)
c.39T>A
n.2580T>A
c.2407T>A (p.Tyr803Asn)
c.1897T>A (p.Tyr633Asn)
c.337T>A (p.Tyr113Asn)
c.328T>A (p.Tyr110Asn)
n.2566T>A
2g.15424356dupCA2576680928NBASc.633dup
n.2549dup
c.2053dup (p.Tyr685LeufsTer?)
c.2536dup (p.Tyr846LeufsTer?)
c.37dup (p.Tyr13LeufsTer22)
c.39dup
n.2580dup
c.2407dup (p.Tyr803LeufsTer?)
c.1897dup (p.Tyr633LeufsTer?)
c.337dup (p.Tyr113LeufsTer?)
c.328dup (p.Tyr110LeufsTer?)
n.2566dup
 ClinVar gnomAD v4
2g.15424357C>ACA345889418NBASc.632G>T
n.2548G>T
c.2052G>T (p.Trp684Cys)
c.2535G>T (p.Trp845Cys)
c.36G>T (p.Trp12Cys)
c.38G>T
n.2579G>T
c.2406G>T (p.Trp802Cys)
c.1896G>T (p.Trp632Cys)
c.336G>T (p.Trp112Cys)
c.327G>T (p.Trp109Cys)
n.2565G>T
2g.15424357C>GCA345889436NBASc.632G>C
n.2548G>C
c.2052G>C (p.Trp684Cys)
c.2535G>C (p.Trp845Cys)
c.36G>C (p.Trp12Cys)
c.38G>C
n.2579G>C
c.2406G>C (p.Trp802Cys)
c.1896G>C (p.Trp632Cys)
c.336G>C (p.Trp112Cys)
c.327G>C (p.Trp109Cys)
n.2565G>C
2g.15424357C>TCA345889445NBASc.632G>A
n.2548G>A
c.2052G>A (p.Trp684Ter)
c.2535G>A (p.Trp845Ter)
c.36G>A (p.Trp12Ter)
c.38G>A
n.2579G>A
c.2406G>A (p.Trp802Ter)
c.1896G>A (p.Trp632Ter)
c.336G>A (p.Trp112Ter)
c.327G>A (p.Trp109Ter)
n.2565G>A
2g.15424358C>ACA345889452NBASc.631G>T
n.2547G>T
c.2051G>T (p.Trp684Leu)
c.2534G>T (p.Trp845Leu)
c.35G>T (p.Trp12Leu)
c.37G>T
n.2578G>T
c.2405G>T (p.Trp802Leu)
c.1895G>T (p.Trp632Leu)
c.335G>T (p.Trp112Leu)
c.326G>T (p.Trp109Leu)
n.2564G>T
2g.15424358C>GCA345889456NBASc.631G>C
n.2547G>C
c.2051G>C (p.Trp684Ser)
c.2534G>C (p.Trp845Ser)
c.35G>C (p.Trp12Ser)
c.37G>C
n.2578G>C
c.2405G>C (p.Trp802Ser)
c.1895G>C (p.Trp632Ser)
c.335G>C (p.Trp112Ser)
c.326G>C (p.Trp109Ser)
n.2564G>C
2g.15424358C>TCA345889450NBASc.631G>A
n.2547G>A
c.2051G>A (p.Trp684Ter)
c.2534G>A (p.Trp845Ter)
c.35G>A (p.Trp12Ter)
c.37G>A
n.2578G>A
c.2405G>A (p.Trp802Ter)
c.1895G>A (p.Trp632Ter)
c.335G>A (p.Trp112Ter)
c.326G>A (p.Trp109Ter)
n.2564G>A
2g.15424359A>CCA345889472NBASc.630T>G
n.2546T>G
c.2050T>G (p.Trp684Gly)
c.2533T>G (p.Trp845Gly)
c.34T>G (p.Trp12Gly)
c.36T>G
n.2577T>G
c.2404T>G (p.Trp802Gly)
c.1894T>G (p.Trp632Gly)
c.334T>G (p.Trp112Gly)
c.325T>G (p.Trp109Gly)
n.2563T>G
2g.15424359A>GCA345889459NBASc.630T>C
n.2546T>C
c.2050T>C (p.Trp684Arg)
c.2533T>C (p.Trp845Arg)
c.34T>C (p.Trp12Arg)
c.36T>C
n.2577T>C
c.2404T>C (p.Trp802Arg)
c.1894T>C (p.Trp632Arg)
c.334T>C (p.Trp112Arg)
c.325T>C (p.Trp109Arg)
n.2563T>C
2g.15424359A>TCA345889465NBASc.630T>A
n.2546T>A
c.2050T>A (p.Trp684Arg)
c.2533T>A (p.Trp845Arg)
c.34T>A (p.Trp12Arg)
c.36T>A
n.2577T>A
c.2404T>A (p.Trp802Arg)
c.1894T>A (p.Trp632Arg)
c.334T>A (p.Trp112Arg)
c.325T>A (p.Trp109Arg)
n.2563T>A
2g.15424360G>ACA424870477NBASc.629C>T
n.2545C>T
c.2049C>T (p.Asp683=)
c.2532C>T (p.Asp844=)
c.33C>T (p.Asp11=)
c.35C>T
n.2576C>T
c.2403C>T (p.Asp801=)
c.1893C>T (p.Asp631=)
c.333C>T (p.Asp111=)
c.324C>T (p.Asp108=)
n.2562C>T
 dbSNP gnomAD v4
2g.15424360G>CCA345889476NBASc.629C>G
n.2545C>G
c.2049C>G (p.Asp683Glu)
c.2532C>G (p.Asp844Glu)
c.33C>G (p.Asp11Glu)
c.35C>G
n.2576C>G
c.2403C>G (p.Asp801Glu)
c.1893C>G (p.Asp631Glu)
c.333C>G (p.Asp111Glu)
c.324C>G (p.Asp108Glu)
n.2562C>G
2g.15424360G=CA2490889315NBASc.629C=
n.2545C=
c.2049C= (p.Asp683=)
c.2532C= (p.Asp844=)
c.33C= (p.Asp11=)
c.35C=
n.2576C=
c.2403C= (p.Asp801=)
c.1893C= (p.Asp631=)
c.333C= (p.Asp111=)
c.324C= (p.Asp108=)
n.2562C=
2g.15424360G>TCA345889482NBASc.629C>A
n.2545C>A
c.2049C>A (p.Asp683Glu)
c.2532C>A (p.Asp844Glu)
c.33C>A (p.Asp11Glu)
c.35C>A
n.2576C>A
c.2403C>A (p.Asp801Glu)
c.1893C>A (p.Asp631Glu)
c.333C>A (p.Asp111Glu)
c.324C>A (p.Asp108Glu)
n.2562C>A
2g.15424361T>ACA345889497NBASc.628A>T
n.2544A>T
c.2048A>T (p.Asp683Val)
c.2531A>T (p.Asp844Val)
c.32A>T (p.Asp11Val)
c.34A>T
n.2575A>T
c.2402A>T (p.Asp801Val)
c.1892A>T (p.Asp631Val)
c.332A>T (p.Asp111Val)
c.323A>T (p.Asp108Val)
n.2561A>T
 dbSNP gnomAD v2 gnomAD v4
2g.15424361T>CCA1536332NBASc.628A>G
n.2544A>G
c.2048A>G (p.Asp683Gly)
c.2531A>G (p.Asp844Gly)
c.32A>G (p.Asp11Gly)
c.34A>G
n.2575A>G
c.2402A>G (p.Asp801Gly)
c.1892A>G (p.Asp631Gly)
c.332A>G (p.Asp111Gly)
c.323A>G (p.Asp108Gly)
n.2561A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15424361T>GCA345889510NBASc.628A>C
n.2544A>C
c.2048A>C (p.Asp683Ala)
c.2531A>C (p.Asp844Ala)
c.32A>C (p.Asp11Ala)
c.34A>C
n.2575A>C
c.2402A>C (p.Asp801Ala)
c.1892A>C (p.Asp631Ala)
c.332A>C (p.Asp111Ala)
c.323A>C (p.Asp108Ala)
n.2561A>C
2g.15424361T=CA2490889316NBASc.628A=
n.2544A=
c.2048A= (p.Asp683=)
c.2531A= (p.Asp844=)
c.32A= (p.Asp11=)
c.34A=
n.2575A=
c.2402A= (p.Asp801=)
c.1892A= (p.Asp631=)
c.332A= (p.Asp111=)
c.323A= (p.Asp108=)
n.2561A=
2g.15424362C>ACA345889514NBASc.627G>T
n.2543G>T
c.2047G>T (p.Asp683Tyr)
c.2530G>T (p.Asp844Tyr)
c.31G>T (p.Asp11Tyr)
c.33G>T
n.2574G>T
c.2401G>T (p.Asp801Tyr)
c.1891G>T (p.Asp631Tyr)
c.331G>T (p.Asp111Tyr)
c.322G>T (p.Asp108Tyr)
n.2560G>T
2g.15424362C=CA2490889317NBASc.627G=
n.2543G=
c.2047G= (p.Asp683=)
c.2530G= (p.Asp844=)
c.31G= (p.Asp11=)
c.33G=
n.2574G=
c.2401G= (p.Asp801=)
c.1891G= (p.Asp631=)
c.331G= (p.Asp111=)
c.322G= (p.Asp108=)
n.2560G=
2g.15424362C>GCA345889519NBASc.627G>C
n.2543G>C
c.2047G>C (p.Asp683His)
c.2530G>C (p.Asp844His)
c.31G>C (p.Asp11His)
c.33G>C
n.2574G>C
c.2401G>C (p.Asp801His)
c.1891G>C (p.Asp631His)
c.331G>C (p.Asp111His)
c.322G>C (p.Asp108His)
n.2560G>C
2g.15424362C>TCA1536333NBASc.627G>A
n.2543G>A
c.2047G>A (p.Asp683Asn)
c.2530G>A (p.Asp844Asn)
c.31G>A (p.Asp11Asn)
c.33G>A
n.2574G>A
c.2401G>A (p.Asp801Asn)
c.1891G>A (p.Asp631Asn)
c.331G>A (p.Asp111Asn)
c.322G>A (p.Asp108Asn)
n.2560G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15424363C>ACA345889538NBASc.626G>T
n.2542G>T
c.2046G>T (p.Met682Ile)
c.2529G>T (p.Met843Ile)
c.30G>T (p.Met10Ile)
c.32G>T
n.2573G>T
c.2400G>T (p.Met800Ile)
c.1890G>T (p.Met630Ile)
c.330G>T (p.Met110Ile)
c.321G>T (p.Met107Ile)
n.2559G>T
 gnomAD v4
2g.15424363C=CA2490889318NBASc.626G=
n.2542G=
c.2046G= (p.Met682=)
c.2529G= (p.Met843=)
c.30G= (p.Met10=)
c.32G=
n.2573G=
c.2400G= (p.Met800=)
c.1890G= (p.Met630=)
c.330G= (p.Met110=)
c.321G= (p.Met107=)
n.2559G=
2g.15424363C>GCA345889546NBASc.626G>C
n.2542G>C
c.2046G>C (p.Met682Ile)
c.2529G>C (p.Met843Ile)
c.30G>C (p.Met10Ile)
c.32G>C
n.2573G>C
c.2400G>C (p.Met800Ile)
c.1890G>C (p.Met630Ile)
c.330G>C (p.Met110Ile)
c.321G>C (p.Met107Ile)
n.2559G>C
2g.15424363C>TCA345889548NBASc.626G>A
n.2542G>A
c.2046G>A (p.Met682Ile)
c.2529G>A (p.Met843Ile)
c.30G>A (p.Met10Ile)
c.32G>A
n.2573G>A
c.2400G>A (p.Met800Ile)
c.1890G>A (p.Met630Ile)
c.330G>A (p.Met110Ile)
c.321G>A (p.Met107Ile)
n.2559G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.15424364A=CA2490889319NBASc.625T=
n.2541T=
c.2045T= (p.Met682=)
c.2528T= (p.Met843=)
c.29T= (p.Met10=)
c.31T=
n.2572T=
c.2399T= (p.Met800=)
c.1889T= (p.Met630=)
c.329T= (p.Met110=)
c.320T= (p.Met107=)
n.2558T=
2g.15424364A>CCA345889552NBASc.625T>G
n.2541T>G
c.2045T>G (p.Met682Arg)
c.2528T>G (p.Met843Arg)
c.29T>G (p.Met10Arg)
c.31T>G
n.2572T>G
c.2399T>G (p.Met800Arg)
c.1889T>G (p.Met630Arg)
c.329T>G (p.Met110Arg)
c.320T>G (p.Met107Arg)
n.2558T>G
2g.15424364A>GCA345889561NBASc.625T>C
n.2541T>C
c.2045T>C (p.Met682Thr)
c.2528T>C (p.Met843Thr)
c.29T>C (p.Met10Thr)
c.31T>C
n.2572T>C
c.2399T>C (p.Met800Thr)
c.1889T>C (p.Met630Thr)
c.329T>C (p.Met110Thr)
c.320T>C (p.Met107Thr)
n.2558T>C
 dbSNP gnomAD v3 gnomAD v4
2g.15424364A>TCA345889557NBASc.625T>A
n.2541T>A
c.2045T>A (p.Met682Lys)
c.2528T>A (p.Met843Lys)
c.29T>A (p.Met10Lys)
c.31T>A
n.2572T>A
c.2399T>A (p.Met800Lys)
c.1889T>A (p.Met630Lys)
c.329T>A (p.Met110Lys)
c.320T>A (p.Met107Lys)
n.2558T>A
2g.15424365T>ACA42632456NBASc.624A>T
n.2540A>T
c.2044A>T (p.Met682Leu)
c.2527A>T (p.Met843Leu)
c.28A>T (p.Met10Leu)
c.30A>T
n.2571A>T
c.2398A>T (p.Met800Leu)
c.1888A>T (p.Met630Leu)
c.328A>T (p.Met110Leu)
c.319A>T (p.Met107Leu)
n.2557A>T
 dbSNP gnomAD v4
2g.15424365T>CCA345889582NBASc.624A>G
n.2540A>G
c.2044A>G (p.Met682Val)
c.2527A>G (p.Met843Val)
c.28A>G (p.Met10Val)
c.30A>G
n.2571A>G
c.2398A>G (p.Met800Val)
c.1888A>G (p.Met630Val)
c.328A>G (p.Met110Val)
c.319A>G (p.Met107Val)
n.2557A>G
 dbSNP
2g.15424365T>GCA345889588NBASc.624A>C
n.2540A>C
c.2044A>C (p.Met682Leu)
c.2527A>C (p.Met843Leu)
c.28A>C (p.Met10Leu)
c.30A>C
n.2571A>C
c.2398A>C (p.Met800Leu)
c.1888A>C (p.Met630Leu)
c.328A>C (p.Met110Leu)
c.319A>C (p.Met107Leu)
n.2557A>C
2g.15424365T=CA2490889320NBASc.624A=
n.2540A=
c.2044A= (p.Met682=)
c.2527A= (p.Met843=)
c.28A= (p.Met10=)
c.30A=
n.2571A=
c.2398A= (p.Met800=)
c.1888A= (p.Met630=)
c.328A= (p.Met110=)
c.319A= (p.Met107=)
n.2557A=
2g.15424366A>CCA424870488NBASc.623T>G
n.2539T>G
c.2043T>G (p.Val681=)
c.2526T>G (p.Val842=)
c.27T>G (p.Val9=)
c.29T>G
n.2570T>G
c.2397T>G (p.Val799=)
c.1887T>G (p.Val629=)
c.327T>G (p.Val109=)
c.318T>G (p.Val106=)
n.2556T>G
2g.15424366A>GCA424870485NBASc.623T>C
n.2539T>C
c.2043T>C (p.Val681=)
c.2526T>C (p.Val842=)
c.27T>C (p.Val9=)
c.29T>C
n.2570T>C
c.2397T>C (p.Val799=)
c.1887T>C (p.Val629=)
c.327T>C (p.Val109=)
c.318T>C (p.Val106=)
n.2556T>C
2g.15424366A>TCA424870487NBASc.623T>A
n.2539T>A
c.2043T>A (p.Val681=)
c.2526T>A (p.Val842=)
c.27T>A (p.Val9=)
c.29T>A
n.2570T>A
c.2397T>A (p.Val799=)
c.1887T>A (p.Val629=)
c.327T>A (p.Val109=)
c.318T>A (p.Val106=)
n.2556T>A
 gnomAD v4
2g.15424367A>CCA345889593NBASc.622T>G
n.2538T>G
c.2042T>G (p.Val681Gly)
c.2525T>G (p.Val842Gly)
c.26T>G (p.Val9Gly)
c.28T>G
n.2569T>G
c.2396T>G (p.Val799Gly)
c.1886T>G (p.Val629Gly)
c.326T>G (p.Val109Gly)
c.317T>G (p.Val106Gly)
n.2555T>G
2g.15424367A>GCA345889597NBASc.622T>C
n.2538T>C
c.2042T>C (p.Val681Ala)
c.2525T>C (p.Val842Ala)
c.26T>C (p.Val9Ala)
c.28T>C
n.2569T>C
c.2396T>C (p.Val799Ala)
c.1886T>C (p.Val629Ala)
c.326T>C (p.Val109Ala)
c.317T>C (p.Val106Ala)
n.2555T>C
2g.15424367A>TCA345889606NBASc.622T>A
n.2538T>A
c.2042T>A (p.Val681Asp)
c.2525T>A (p.Val842Asp)
c.26T>A (p.Val9Asp)
c.28T>A
n.2569T>A
c.2396T>A (p.Val799Asp)
c.1886T>A (p.Val629Asp)
c.326T>A (p.Val109Asp)
c.317T>A (p.Val106Asp)
n.2555T>A
2g.15424368C>ACA345889621NBASc.621G>T
n.2537G>T
c.2041G>T (p.Val681Phe)
c.2524G>T (p.Val842Phe)
c.25G>T (p.Val9Phe)
c.27G>T
n.2568G>T
c.2395G>T (p.Val799Phe)
c.1885G>T (p.Val629Phe)
c.325G>T (p.Val109Phe)
c.316G>T (p.Val106Phe)
n.2554G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15424368C=CA2490889321NBASc.621G=
n.2537G=
c.2041G= (p.Val681=)
c.2524G= (p.Val842=)
c.25G= (p.Val9=)
c.27G=
n.2568G=
c.2395G= (p.Val799=)
c.1885G= (p.Val629=)
c.325G= (p.Val109=)
c.316G= (p.Val106=)
n.2554G=
2g.15424368C>GCA345889624NBASc.621G>C
n.2537G>C
c.2041G>C (p.Val681Leu)
c.2524G>C (p.Val842Leu)
c.25G>C (p.Val9Leu)
c.27G>C
n.2568G>C
c.2395G>C (p.Val799Leu)
c.1885G>C (p.Val629Leu)
c.325G>C (p.Val109Leu)
c.316G>C (p.Val106Leu)
n.2554G>C
2g.15424368C>TCA345889627NBASc.621G>A
n.2537G>A
c.2041G>A (p.Val681Ile)
c.2524G>A (p.Val842Ile)
c.25G>A (p.Val9Ile)
c.27G>A
n.2568G>A
c.2395G>A (p.Val799Ile)
c.1885G>A (p.Val629Ile)
c.325G>A (p.Val109Ile)
c.316G>A (p.Val106Ile)
n.2554G>A
 gnomAD v4

Number of alleles fetched