Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18787447delCA2326526384COMPc.1135+45del (n.1135+45del)
c.976+45del (n.976+45del)
c.1036+45del (n.1036+45del)
 dbSNP
19g.18787447G>ACA9316525COMPc.1135+44C>T (n.1135+44C>T)
c.976+44C>T (n.976+44C>T)
c.1036+44C>T (n.1036+44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787447G>CCA2583622605COMPc.1135+44C>G (n.1135+44C>G)
c.976+44C>G (n.976+44C>G)
c.1036+44C>G (n.1036+44C>G)
 gnomAD v4
19g.18787447G=CA2326526386COMPc.1135+44C= (n.1135+44C=)
c.976+44C= (n.976+44C=)
c.1036+44C= (n.1036+44C=)
19g.18787448dupCA632375731COMPc.1135+43dup (n.1135+43dup)
c.976+43dup (n.976+43dup)
c.1036+43dup (n.1036+43dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787449G>ACA2576725844COMPc.1135+42C>T (n.1135+42C>T)
c.976+42C>T (n.976+42C>T)
c.1036+42C>T (n.1036+42C>T)
19g.18787449G>TCA2583622606COMPc.1135+42C>A (n.1135+42C>A)
c.976+42C>A (n.976+42C>A)
c.1036+42C>A (n.1036+42C>A)
 gnomAD v4
19g.18787450C>ACA2583622607COMPc.1135+41G>T (n.1135+41G>T)
c.976+41G>T (n.976+41G>T)
c.1036+41G>T (n.1036+41G>T)
 gnomAD v4
19g.18787450C=CA2326526388COMPc.1135+41G= (n.1135+41G=)
c.976+41G= (n.976+41G=)
c.1036+41G= (n.1036+41G=)
19g.18787450C>TCA9316527COMPc.1135+41G>A (n.1135+41G>A)
c.976+41G>A (n.976+41G>A)
c.1036+41G>A (n.1036+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787451_18787452delCA2842543205COMPc.1135+40_1135+41del (n.1135+40_1135+41del)
c.976+40_976+41del (n.976+40_976+41del)
c.1036+40_1036+41del (n.1036+40_1036+41del)
19g.18787450_18787456delinsCCCGCCGCA2326526389COMPc.1135+35_1135+41delinsCGGCGGG (n.1135+35_1135+41delinsCGGCGGG)
c.976+35_976+41delinsCGGCGGG (n.976+35_976+41delinsCGGCGGG)
c.1036+35_1036+41delinsCGGCGGG (n.1036+35_1036+41delinsCGGCGGG)
19g.18787451C>TCA2839417466COMPc.1135+40G>A (n.1135+40G>A)
c.976+40G>A (n.976+40G>A)
c.1036+40G>A (n.1036+40G>A)
19g.18787453_18787458delCA9316526COMPc.1135+35_1135+40del (n.1135+35_1135+40del)
c.976+35_976+40del (n.976+35_976+40del)
c.1036+35_1036+40del (n.1036+35_1036+40del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787452C>ACA2583622608COMPc.1135+39G>T (n.1135+39G>T)
c.976+39G>T (n.976+39G>T)
c.1036+39G>T (n.1036+39G>T)
 gnomAD v4
19g.18787452C>TCA2583622609COMPc.1135+39G>A (n.1135+39G>A)
c.976+39G>A (n.976+39G>A)
c.1036+39G>A (n.1036+39G>A)
 gnomAD v4
19g.18787452_18787459delinsCGCCGCCTCA2326526391COMPc.1135+32_1135+39delinsAGGCGGCG (n.1135+32_1135+39delinsAGGCGGCG)
c.976+32_976+39delinsAGGCGGCG (n.976+32_976+39delinsAGGCGGCG)
c.1036+32_1036+39delinsAGGCGGCG (n.1036+32_1036+39delinsAGGCGGCG)
19g.18787453G>ACA2583622610COMPc.1135+38C>T (n.1135+38C>T)
c.976+38C>T (n.976+38C>T)
c.1036+38C>T (n.1036+38C>T)
 gnomAD v4
19g.18787453G>CCA2583622611COMPc.1135+38C>G (n.1135+38C>G)
c.976+38C>G (n.976+38C>G)
c.1036+38C>G (n.1036+38C>G)
 gnomAD v4
19g.18787453G>TCA2583622612COMPc.1135+38C>A (n.1135+38C>A)
c.976+38C>A (n.976+38C>A)
c.1036+38C>A (n.1036+38C>A)
 gnomAD v4
19g.18787453_18787459delCA783973061COMPc.1135+32_1135+38del (n.1135+32_1135+38del)
c.976+32_976+38del (n.976+32_976+38del)
c.1036+32_1036+38del (n.1036+32_1036+38del)
 dbSNP
19g.18787454C=CA2326526393COMPc.1135+37G= (n.1135+37G=)
c.976+37G= (n.976+37G=)
c.1036+37G= (n.1036+37G=)
19g.18787454C>GCA632375732COMPc.1135+37G>C (n.1135+37G>C)
c.976+37G>C (n.976+37G>C)
c.1036+37G>C (n.1036+37G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787454C>TCA2583622613COMPc.1135+37G>A (n.1135+37G>A)
c.976+37G>A (n.976+37G>A)
c.1036+37G>A (n.1036+37G>A)
 gnomAD v4
19g.18787455delCA2842543207COMPc.1135+37del (n.1135+37del)
c.976+37del (n.976+37del)
c.1036+37del (n.1036+37del)
19g.18787455C>ACA2583622614COMPc.1135+36G>T (n.1135+36G>T)
c.976+36G>T (n.976+36G>T)
c.1036+36G>T (n.1036+36G>T)
 gnomAD v4
19g.18787455C>TCA2504729345COMPc.1135+36G>A (n.1135+36G>A)
c.976+36G>A (n.976+36G>A)
c.1036+36G>A (n.1036+36G>A)
19g.18787456G>ACA9316528COMPc.1135+35C>T (n.1135+35C>T)
c.976+35C>T (n.976+35C>T)
c.1036+35C>T (n.1036+35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787456G=CA2326526395COMPc.1135+35C= (n.1135+35C=)
c.976+35C= (n.976+35C=)
c.1036+35C= (n.1036+35C=)
19g.18787456G>TCA2583622615COMPc.1135+35C>A (n.1135+35C>A)
c.976+35C>A (n.976+35C>A)
c.1036+35C>A (n.1036+35C>A)
 gnomAD v4
19g.18787458delCA2583622616COMPc.1135+34del (n.1135+34del)
c.976+34del (n.976+34del)
c.1036+34del (n.1036+34del)
 gnomAD v4
19g.18787458C=CA2326526397COMPc.1135+33G= (n.1135+33G=)
c.976+33G= (n.976+33G=)
c.1036+33G= (n.1036+33G=)
19g.18787458C>TCA632375733COMPc.1135+33G>A (n.1135+33G>A)
c.976+33G>A (n.976+33G>A)
c.1036+33G>A (n.1036+33G>A)
 dbSNP gnomAD v2
19g.18787459_18787460delinsTCCA2326526398COMPc.1135+31_1135+32delinsGA (n.1135+31_1135+32delinsGA)
c.976+31_976+32delinsGA (n.976+31_976+32delinsGA)
c.1036+31_1036+32delinsGA (n.1036+31_1036+32delinsGA)
19g.18787460delCA9316529COMPc.1135+31del (n.1135+31del)
c.976+31del (n.976+31del)
c.1036+31del (n.1036+31del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787460C=CA2326526400COMPc.1135+31G= (n.1135+31G=)
c.976+31G= (n.976+31G=)
c.1036+31G= (n.1036+31G=)
19g.18787460C>TCA306256459COMPc.1135+31G>A (n.1135+31G>A)
c.976+31G>A (n.976+31G>A)
c.1036+31G>A (n.1036+31G>A)
 dbSNP gnomAD v4
19g.18787461delCA404887577COMPc.1135+30del (n.1135+30del)
c.976+30del (n.976+30del)
c.1036+30del (n.1036+30del)
19g.18787462C>ACA2576725845COMPc.1135+29G>T (n.1135+29G>T)
c.976+29G>T (n.976+29G>T)
c.1036+29G>T (n.1036+29G>T)
 gnomAD v4
19g.18787463C>ACA9316530COMPc.1135+28G>T (n.1135+28G>T)
c.976+28G>T (n.976+28G>T)
c.1036+28G>T (n.1036+28G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787463C=CA2326526402COMPc.1135+28G= (n.1135+28G=)
c.976+28G= (n.976+28G=)
c.1036+28G= (n.1036+28G=)
19g.18787463C>TCA783973071COMPc.1135+28G>A (n.1135+28G>A)
c.976+28G>A (n.976+28G>A)
c.1036+28G>A (n.1036+28G>A)
 dbSNP
19g.18787464T>ACA9316531COMPc.1135+27A>T (n.1135+27A>T)
c.976+27A>T (n.976+27A>T)
c.1036+27A>T (n.1036+27A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787464T>CCA9316532COMPc.1135+27A>G (n.1135+27A>G)
c.976+27A>G (n.976+27A>G)
c.1036+27A>G (n.1036+27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787464T=CA2326526403COMPc.1135+27A= (n.1135+27A=)
c.976+27A= (n.976+27A=)
c.1036+27A= (n.1036+27A=)
19g.18787465C>ACA632375734COMPc.1135+26G>T (n.1135+26G>T)
c.976+26G>T (n.976+26G>T)
c.1036+26G>T (n.1036+26G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787465C=CA2326526404COMPc.1135+26G= (n.1135+26G=)
c.976+26G= (n.976+26G=)
c.1036+26G= (n.1036+26G=)
19g.18787465C>GCA2583622617COMPc.1135+26G>C (n.1135+26G>C)
c.976+26G>C (n.976+26G>C)
c.1036+26G>C (n.1036+26G>C)
 gnomAD v4
19g.18787465C>TCA2583622618COMPc.1135+26G>A (n.1135+26G>A)
c.976+26G>A (n.976+26G>A)
c.1036+26G>A (n.1036+26G>A)
 gnomAD v4
19g.18787466G>ACA9316533COMPc.1135+25C>T (n.1135+25C>T)
c.976+25C>T (n.976+25C>T)
c.1036+25C>T (n.1036+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787466G>CCA2583622619COMPc.1135+25C>G (n.1135+25C>G)
c.976+25C>G (n.976+25C>G)
c.1036+25C>G (n.1036+25C>G)
 gnomAD v4
19g.18787466G=CA2326526405COMPc.1135+25C= (n.1135+25C=)
c.976+25C= (n.976+25C=)
c.1036+25C= (n.1036+25C=)
19g.18787466G>TCA2576725846COMPc.1135+25C>A (n.1135+25C>A)
c.976+25C>A (n.976+25C>A)
c.1036+25C>A (n.1036+25C>A)
 gnomAD v4
19g.18787467C>ACA2326526407COMPc.1135+24G>T (n.1135+24G>T)
c.976+24G>T (n.976+24G>T)
c.1036+24G>T (n.1036+24G>T)
 dbSNP gnomAD v4
19g.18787467C=CA2326526406COMPc.1135+24G= (n.1135+24G=)
c.976+24G= (n.976+24G=)
c.1036+24G= (n.1036+24G=)
19g.18787467C>TCA9316534COMPc.1135+24G>A (n.1135+24G>A)
c.976+24G>A (n.976+24G>A)
c.1036+24G>A (n.1036+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787472dupCA2583622621COMPc.1135+24dup (n.1135+24dup)
c.976+24dup (n.976+24dup)
c.1036+24dup (n.1036+24dup)
 dbSNP gnomAD v4
19g.18787472delCA2583622620COMPc.1135+24del (n.1135+24del)
c.976+24del (n.976+24del)
c.1036+24del (n.1036+24del)
 gnomAD v4
19g.18787468C>TCA2583622622COMPc.1135+23G>A (n.1135+23G>A)
c.976+23G>A (n.976+23G>A)
c.1036+23G>A (n.1036+23G>A)
 gnomAD v4
19g.18787469C>ACA2513951589COMPc.1135+22G>T (n.1135+22G>T)
c.976+22G>T (n.976+22G>T)
c.1036+22G>T (n.1036+22G>T)
19g.18787469C>TCA2576725847COMPc.1135+22G>A (n.1135+22G>A)
c.976+22G>A (n.976+22G>A)
c.1036+22G>A (n.1036+22G>A)
19g.18787470C>ACA2576725848COMPc.1135+21G>T (n.1135+21G>T)
c.976+21G>T (n.976+21G>T)
c.1036+21G>T (n.1036+21G>T)
19g.18787470C=CA2326526408COMPc.1135+21G= (n.1135+21G=)
c.976+21G= (n.976+21G=)
c.1036+21G= (n.1036+21G=)
19g.18787470C>TCA9316535COMPc.1135+21G>A (n.1135+21G>A)
c.976+21G>A (n.976+21G>A)
c.1036+21G>A (n.1036+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787471C>ACA632375735COMPc.1135+20G>T (n.1135+20G>T)
c.976+20G>T (n.976+20G>T)
c.1036+20G>T (n.1036+20G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18787471C=CA2326526412COMPc.1135+20G= (n.1135+20G=)
c.976+20G= (n.976+20G=)
c.1036+20G= (n.1036+20G=)
19g.18787471C>GCA306256480COMPc.1135+20G>C (n.1135+20G>C)
c.976+20G>C (n.976+20G>C)
c.1036+20G>C (n.1036+20G>C)
 dbSNP
19g.18787471C>TCA306256484COMPc.1135+20G>A (n.1135+20G>A)
c.976+20G>A (n.976+20G>A)
c.1036+20G>A (n.1036+20G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787472C>ACA2576725849COMPc.1135+19G>T (n.1135+19G>T)
c.976+19G>T (n.976+19G>T)
c.1036+19G>T (n.1036+19G>T)
19g.18787472C=CA2326526414COMPc.1135+19G= (n.1135+19G=)
c.976+19G= (n.976+19G=)
c.1036+19G= (n.1036+19G=)
19g.18787472C>TCA2583622623COMPc.1135+19G>A (n.1135+19G>A)
c.976+19G>A (n.976+19G>A)
c.1036+19G>A (n.1036+19G>A)
 gnomAD v4
19g.18787473A=CA2326526415COMPc.1135+18T= (n.1135+18T=)
c.976+18T= (n.976+18T=)
c.1036+18T= (n.1036+18T=)
19g.18787473A>CCA2326526417COMPc.1135+18T>G (n.1135+18T>G)
c.976+18T>G (n.976+18T>G)
c.1036+18T>G (n.1036+18T>G)
 dbSNP gnomAD v4
19g.18787474dupCA404887614COMPc.1135+18dup (n.1135+18dup)
c.976+18dup (n.976+18dup)
c.1036+18dup (n.1036+18dup)
 dbSNP gnomAD v3 gnomAD v4
19g.18787474A>CCA994237251COMPc.1135+17T>G (n.1135+17T>G)
c.976+17T>G (n.976+17T>G)
c.1036+17T>G (n.1036+17T>G)
 gnomAD v3 gnomAD v4
19g.18787474A>GCA2576725850COMPc.1135+17T>C (n.1135+17T>C)
c.976+17T>C (n.976+17T>C)
c.1036+17T>C (n.1036+17T>C)
 gnomAD v4
19g.18787475C>ACA2326526420COMPc.1135+16G>T (n.1135+16G>T)
c.976+16G>T (n.976+16G>T)
c.1036+16G>T (n.1036+16G>T)
 dbSNP gnomAD v4
19g.18787475C=CA2326526419COMPc.1135+16G= (n.1135+16G=)
c.976+16G= (n.976+16G=)
c.1036+16G= (n.1036+16G=)
19g.18787475C>TCA306256494COMPc.1135+16G>A (n.1135+16G>A)
c.976+16G>A (n.976+16G>A)
c.1036+16G>A (n.1036+16G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787476C>GCA2583622624COMPc.1135+15G>C (n.1135+15G>C)
c.976+15G>C (n.976+15G>C)
c.1036+15G>C (n.1036+15G>C)
 gnomAD v4
19g.18787477C>ACA2583622625COMPc.1135+14G>T (n.1135+14G>T)
c.976+14G>T (n.976+14G>T)
c.1036+14G>T (n.1036+14G>T)
 gnomAD v4
19g.18787477C>TCA2576725851COMPc.1135+14G>A (n.1135+14G>A)
c.976+14G>A (n.976+14G>A)
c.1036+14G>A (n.1036+14G>A)
 gnomAD v4
19g.18787478C>TCA2583622626COMPc.1135+13G>A (n.1135+13G>A)
c.976+13G>A (n.976+13G>A)
c.1036+13G>A (n.1036+13G>A)
 gnomAD v4
19g.18787480A=CA2326526421COMPc.1135+11T= (n.1135+11T=)
c.976+11T= (n.976+11T=)
c.1036+11T= (n.1036+11T=)
19g.18787480A>CCA994237266COMPc.1135+11T>G (n.1135+11T>G)
c.976+11T>G (n.976+11T>G)
c.1036+11T>G (n.1036+11T>G)
 gnomAD v3 gnomAD v4
19g.18787480A>GCA9316536COMPc.1135+11T>C (n.1135+11T>C)
c.976+11T>C (n.976+11T>C)
c.1036+11T>C (n.1036+11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787481T>ACA2583622627COMPc.1135+10A>T (n.1135+10A>T)
c.976+10A>T (n.976+10A>T)
c.1036+10A>T (n.1036+10A>T)
 gnomAD v4
19g.18787482C>TCA2583622628COMPc.1135+9G>A (n.1135+9G>A)
c.976+9G>A (n.976+9G>A)
c.1036+9G>A (n.1036+9G>A)
 gnomAD v4
19g.18787484A>GCA2813847476COMPc.1135+7T>C (n.1135+7T>C)
c.976+7T>C (n.976+7T>C)
c.1036+7T>C (n.1036+7T>C)
19g.18787485G>ACA2326526425COMPc.1135+6C>T (n.1135+6C>T)
c.976+6C>T (n.976+6C>T)
c.1036+6C>T (n.1036+6C>T)
 dbSNP gnomAD v4
19g.18787485G=CA2326526423COMPc.1135+6C= (n.1135+6C=)
c.976+6C= (n.976+6C=)
c.1036+6C= (n.1036+6C=)
19g.18787486C=CA2326526428COMPc.1135+5G= (n.1135+5G=)
c.976+5G= (n.976+5G=)
c.1036+5G= (n.1036+5G=)
19g.18787486C>TCA783973076COMPc.1135+5G>A (n.1135+5G>A)
c.976+5G>A (n.976+5G>A)
c.1036+5G>A (n.1036+5G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18787488C>ACA2583622629COMPc.1135+3G>T (n.1135+3G>T)
c.976+3G>T (n.976+3G>T)
c.1036+3G>T (n.1036+3G>T)
 gnomAD v4
19g.18787489A=CA2326526432COMPc.1135+2T= (n.1135+2T=)
c.976+2T= (n.976+2T=)
c.1036+2T= (n.1036+2T=)
19g.18787489A>CCA404887628COMPc.1135+2T>G (n.1135+2T>G)
c.976+2T>G (n.976+2T>G)
c.1036+2T>G (n.1036+2T>G)
19g.18787489A>GCA404887631COMPc.1135+2T>C (n.1135+2T>C)
c.976+2T>C (n.976+2T>C)
c.1036+2T>C (n.1036+2T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18787489A>TCA404887637COMPc.1135+2T>A (n.1135+2T>A)
c.976+2T>A (n.976+2T>A)
c.1036+2T>A (n.1036+2T>A)
19g.18787490C>ACA404887641COMPc.1135+1G>T (n.1135+1G>T)
c.976+1G>T (n.976+1G>T)
c.1036+1G>T (n.1036+1G>T)
19g.18787490C=CA2326526435COMPc.1135+1G= (n.1135+1G=)
c.976+1G= (n.976+1G=)
c.1036+1G= (n.1036+1G=)
19g.18787490C>GCA404887644COMPc.1135+1G>C (n.1135+1G>C)
c.976+1G>C (n.976+1G>C)
c.1036+1G>C (n.1036+1G>C)
19g.18787490C>TCA404887643COMPc.1135+1G>A (n.1135+1G>A)
c.976+1G>A (n.976+1G>A)
c.1036+1G>A (n.1036+1G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18787491G>ACA404887646COMPc.1135C>T (p.Arg379Trp)
c.976C>T (p.Arg326Trp)
c.1036C>T (p.Arg346Trp)
19g.18787491G>CCA404887650COMPc.1135C>G (p.Arg379Gly)
c.976C>G (p.Arg326Gly)
c.1036C>G (p.Arg346Gly)
19g.18787491G=CA2326526437COMPc.1135C= (p.Arg379=)
c.976C= (p.Arg326=)
c.1036C= (p.Arg346=)
19g.18787491G>TCA506053050COMPc.1135C>A (p.Arg379=)
c.976C>A (p.Arg326=)
c.1036C>A (p.Arg346=)
 dbSNP gnomAD v4
19g.18787492G>ACA506053051COMPc.1134C>T (p.Asp378=)
c.975C>T (p.Asp325=)
c.1035C>T (p.Asp345=)
 gnomAD v4
19g.18787492G>CCA404887654COMPc.1134C>G (p.Asp378Glu)
c.975C>G (p.Asp325Glu)
c.1035C>G (p.Asp345Glu)
19g.18787492G>TCA404887656COMPc.1134C>A (p.Asp378Glu)
c.975C>A (p.Asp325Glu)
c.1035C>A (p.Asp345Glu)
19g.18787496_18787507delCA2695228439COMPc.1123_1134del (p.Ile375_Asp378del)
c.964_975del (p.Ile322_Asp325del)
c.1024_1035del (p.Ile342_Asp345del)
 ClinVar
19g.18787493T>ACA404887666COMPc.1133A>T (p.Asp378Val)
c.974A>T (p.Asp325Val)
c.1034A>T (p.Asp345Val)
19g.18787493T>CCA404887667COMPc.1133A>G (p.Asp378Gly)
c.974A>G (p.Asp325Gly)
c.1034A>G (p.Asp345Gly)
19g.18787493T>GCA404887669COMPc.1133A>C (p.Asp378Ala)
c.974A>C (p.Asp325Ala)
c.1034A>C (p.Asp345Ala)
19g.18787494C>ACA404887674COMPc.1132G>T (p.Asp378Tyr)
c.973G>T (p.Asp325Tyr)
c.1033G>T (p.Asp345Tyr)
 gnomAD v4
19g.18787494C>GCA404887679COMPc.1132G>C (p.Asp378His)
c.973G>C (p.Asp325His)
c.1033G>C (p.Asp345His)
19g.18787494C>TCA404887681COMPc.1132G>A (p.Asp378Asn)
c.973G>A (p.Asp325Asn)
c.1033G>A (p.Asp345Asn)
 ClinVar dbSNP
19g.18787495G>ACA506053052COMPc.1131C>T (p.Gly377=)
c.972C>T (p.Gly324=)
c.1032C>T (p.Gly344=)
 gnomAD v4
19g.18787495G>CCA9316537COMPc.1131C>G (p.Gly377=)
c.972C>G (p.Gly324=)
c.1032C>G (p.Gly344=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787495G=CA2326526444COMPc.1131C= (p.Gly377=)
c.972C= (p.Gly324=)
c.1032C= (p.Gly344=)
19g.18787495G>TCA506053053COMPc.1131C>A (p.Gly377=)
c.972C>A (p.Gly324=)
c.1032C>A (p.Gly344=)
 gnomAD v4
19g.18787496C>ACA404887694COMPc.1130G>T (p.Gly377Val)
c.971G>T (p.Gly324Val)
c.1031G>T (p.Gly344Val)
19g.18787496C=CA2326526445COMPc.1130G= (p.Gly377=)
c.971G= (p.Gly324=)
c.1031G= (p.Gly344=)
19g.18787496C>GCA404887689COMPc.1130G>C (p.Gly377Ala)
c.971G>C (p.Gly324Ala)
c.1031G>C (p.Gly344Ala)
19g.18787496C>TCA404887687COMPc.1130G>A (p.Gly377Asp)
c.971G>A (p.Gly324Asp)
c.1031G>A (p.Gly344Asp)
 dbSNP
19g.18787497C>ACA404887698COMPc.1129G>T (p.Gly377Cys)
c.970G>T (p.Gly324Cys)
c.1030G>T (p.Gly344Cys)
19g.18787497C=CA2326526446COMPc.1129G= (p.Gly377=)
c.970G= (p.Gly324=)
c.1030G= (p.Gly344=)
19g.18787497C>GCA404887709COMPc.1129G>C (p.Gly377Arg)
c.970G>C (p.Gly324Arg)
c.1030G>C (p.Gly344Arg)
19g.18787497C>TCA404887706COMPc.1129G>A (p.Gly377Ser)
c.970G>A (p.Gly324Ser)
c.1030G>A (p.Gly344Ser)
 dbSNP gnomAD v2
19g.18787498G>ACA506053054COMPc.1128C>T (p.Asp376=)
c.969C>T (p.Asp323=)
c.1029C>T (p.Asp343=)
19g.18787498G>CCA404887712COMPc.1128C>G (p.Asp376Glu)
c.969C>G (p.Asp323Glu)
c.1029C>G (p.Asp343Glu)
19g.18787498G>TCA404887713COMPc.1128C>A (p.Asp376Glu)
c.969C>A (p.Asp323Glu)
c.1029C>A (p.Asp343Glu)
19g.18787502_18787507delCA2580096748COMPc.1123_1128del (p.Ile375_Asp376del)
c.964_969del (p.Ile322_Asp323del)
c.1024_1029del (p.Ile342_Asp343del)
 ClinVar
19g.18787499T>ACA404887715COMPc.1127A>T (p.Asp376Val)
c.968A>T (p.Asp323Val)
c.1028A>T (p.Asp343Val)
 ClinVar dbSNP
19g.18787499T>CCA404887716COMPc.1127A>G (p.Asp376Gly)
c.968A>G (p.Asp323Gly)
c.1028A>G (p.Asp343Gly)
 ClinVar
19g.18787499T>GCA404887719COMPc.1127A>C (p.Asp376Ala)
c.968A>C (p.Asp323Ala)
c.1028A>C (p.Asp343Ala)
19g.18787500C>ACA404887723COMPc.1126G>T (p.Asp376Tyr)
c.967G>T (p.Asp323Tyr)
c.1027G>T (p.Asp343Tyr)
 ClinVar dbSNP
19g.18787500C=CA2326526447COMPc.1126G= (p.Asp376=)
c.967G= (p.Asp323=)
c.1027G= (p.Asp343=)
19g.18787500C>GCA404887729COMPc.1126G>C (p.Asp376His)
c.967G>C (p.Asp323His)
c.1027G>C (p.Asp343His)
 ClinVar dbSNP
19g.18787500C>TCA404887730COMPc.1126G>A (p.Asp376Asn)
c.967G>A (p.Asp323Asn)
c.1027G>A (p.Asp343Asn)
 ClinVar dbSNP
19g.18787501G>ACA506053055COMPc.1125C>T (p.Ile375=)
c.966C>T (p.Ile322=)
c.1026C>T (p.Ile342=)
19g.18787501G>CCA404887731COMPc.1125C>G (p.Ile375Met)
c.966C>G (p.Ile322Met)
c.1026C>G (p.Ile342Met)
19g.18787501G=CA2326526449COMPc.1125C= (p.Ile375=)
c.966C= (p.Ile322=)
c.1026C= (p.Ile342=)
19g.18787501G>TCA306256506COMPc.1125C>A (p.Ile375=)
c.966C>A (p.Ile322=)
c.1026C>A (p.Ile342=)
 dbSNP
19g.18787502A=CA2326526450COMPc.1124T= (p.Ile375=)
c.965T= (p.Ile322=)
c.1025T= (p.Ile342=)
19g.18787502A>CCA404887733COMPc.1124T>G (p.Ile375Ser)
c.965T>G (p.Ile322Ser)
c.1025T>G (p.Ile342Ser)
19g.18787502A>GCA404887735COMPc.1124T>C (p.Ile375Thr)
c.965T>C (p.Ile322Thr)
c.1025T>C (p.Ile342Thr)
 ClinVar
19g.18787502A>TCA404887736COMPc.1124T>A (p.Ile375Asn)
c.965T>A (p.Ile322Asn)
c.1025T>A (p.Ile342Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787503T>ACA404887740COMPc.1123A>T (p.Ile375Phe)
c.964A>T (p.Ile322Phe)
c.1024A>T (p.Ile342Phe)
19g.18787503T>CCA404887746COMPc.1123A>G (p.Ile375Val)
c.964A>G (p.Ile322Val)
c.1024A>G (p.Ile342Val)
 gnomAD v4
19g.18787503T>GCA404887744COMPc.1123A>C (p.Ile375Leu)
c.964A>C (p.Ile322Leu)
c.1024A>C (p.Ile342Leu)
19g.18787503T=CA2326526453COMPc.1123A= (p.Ile375=)
c.964A= (p.Ile322=)
c.1024A= (p.Ile342=)
19g.18787504G>ACA506053056COMPc.1122C>T (p.Asp374=)
c.963C>T (p.Asp321=)
c.1023C>T (p.Asp341=)
 gnomAD v4
19g.18787504G>CCA404887748COMPc.1122C>G (p.Asp374Glu)
c.963C>G (p.Asp321Glu)
c.1023C>G (p.Asp341Glu)
19g.18787504G>TCA404887750COMPc.1122C>A (p.Asp374Glu)
c.963C>A (p.Asp321Glu)
c.1023C>A (p.Asp341Glu)
19g.18787511_18787513dupCA632375736COMPc.1120_1122dup (p.Asp374_Ile375insAsp)
c.961_963dup (p.Asp321_Ile322insAsp)
c.1021_1023dup (p.Asp341_Ile342insAsp)
 dbSNP gnomAD v2 gnomAD v4
19g.18787511_18787513delCA2580613096COMPc.1120_1122del (p.Asp374del)
c.961_963del (p.Asp321del)
c.1021_1023del (p.Asp341del)
 ClinVar dbSNP
19g.18787508_18787513delCA2695228440COMPc.1117_1122del (p.Asp373_Asp374del)
c.958_963del (p.Asp320_Asp321del)
c.1018_1023del (p.Asp340_Asp341del)
19g.18787505T>ACA404887753COMPc.1121A>T (p.Asp374Val)
c.962A>T (p.Asp321Val)
c.1022A>T (p.Asp341Val)
19g.18787505T>CCA404887755COMPc.1121A>G (p.Asp374Gly)
c.962A>G (p.Asp321Gly)
c.1022A>G (p.Asp341Gly)
19g.18787505T>GCA404887765COMPc.1121A>C (p.Asp374Ala)
c.962A>C (p.Asp321Ala)
c.1022A>C (p.Asp341Ala)
19g.18787506C>ACA404887768COMPc.1120G>T (p.Asp374Tyr)
c.961G>T (p.Asp321Tyr)
c.1021G>T (p.Asp341Tyr)
19g.18787506C>GCA404887770COMPc.1120G>C (p.Asp374His)
c.961G>C (p.Asp321His)
c.1021G>C (p.Asp341His)
19g.18787506C>TCA404887773COMPc.1120G>A (p.Asp374Asn)
c.961G>A (p.Asp321Asn)
c.1021G>A (p.Asp341Asn)
19g.18787507G>ACA306256507COMPc.1119C>T (p.Asp373=)
c.960C>T (p.Asp320=)
c.1020C>T (p.Asp340=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18787507G>CCA404887776COMPc.1119C>G (p.Asp373Glu)
c.960C>G (p.Asp320Glu)
c.1020C>G (p.Asp340Glu)
 gnomAD v4
19g.18787507G=CA2326526457COMPc.1119C= (p.Asp373=)
c.960C= (p.Asp320=)
c.1020C= (p.Asp340=)
19g.18787507G>TCA404887780COMPc.1119C>A (p.Asp373Glu)
c.960C>A (p.Asp320Glu)
c.1020C>A (p.Asp340Glu)
 gnomAD v4
19g.18787508T>ACA404887788COMPc.1118A>T (p.Asp373Val)
c.959A>T (p.Asp320Val)
c.1019A>T (p.Asp340Val)
19g.18787508T>CCA9316538COMPc.1118A>G (p.Asp373Gly)
c.959A>G (p.Asp320Gly)
c.1019A>G (p.Asp340Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787508T>GCA404887785COMPc.1118A>C (p.Asp373Ala)
c.959A>C (p.Asp320Ala)
c.1019A>C (p.Asp340Ala)
19g.18787508T=CA2326526458COMPc.1118A= (p.Asp373=)
c.959A= (p.Asp320=)
c.1019A= (p.Asp340=)
19g.18787509C>ACA404887795COMPc.1117G>T (p.Asp373Tyr)
c.958G>T (p.Asp320Tyr)
c.1018G>T (p.Asp340Tyr)
19g.18787509C=CA2326526459COMPc.1117G= (p.Asp373=)
c.958G= (p.Asp320=)
c.1018G= (p.Asp340=)
19g.18787509C>GCA404887801COMPc.1117G>C (p.Asp373His)
c.958G>C (p.Asp320His)
c.1018G>C (p.Asp340His)
19g.18787509C>TCA9316539COMPc.1117G>A (p.Asp373Asn)
c.958G>A (p.Asp320Asn)
c.1018G>A (p.Asp340Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.18787510G>ACA506053057COMPc.1116C>T (p.Asp372=)
c.957C>T (p.Asp319=)
c.1017C>T (p.Asp339=)
19g.18787510G>CCA404887805COMPc.1116C>G (p.Asp372Glu)
c.957C>G (p.Asp319Glu)
c.1017C>G (p.Asp339Glu)
19g.18787510G>TCA404887806COMPc.1116C>A (p.Asp372Glu)
c.957C>A (p.Asp319Glu)
c.1017C>A (p.Asp339Glu)
19g.18787511T>ACA404887808COMPc.1115A>T (p.Asp372Val)
c.956A>T (p.Asp319Val)
c.1016A>T (p.Asp339Val)
19g.18787511T>CCA404887811COMPc.1115A>G (p.Asp372Gly)
c.956A>G (p.Asp319Gly)
c.1016A>G (p.Asp339Gly)
19g.18787511T>GCA404887813COMPc.1115A>C (p.Asp372Ala)
c.956A>C (p.Asp319Ala)
c.1016A>C (p.Asp339Ala)
19g.18787512C>ACA404887817COMPc.1114G>T (p.Asp372Tyr)
c.955G>T (p.Asp319Tyr)
c.1015G>T (p.Asp339Tyr)
19g.18787512C>GCA404887819COMPc.1114G>C (p.Asp372His)
c.955G>C (p.Asp319His)
c.1015G>C (p.Asp339His)
19g.18787512C>TCA404887822COMPc.1114G>A (p.Asp372Asn)
c.955G>A (p.Asp319Asn)
c.1015G>A (p.Asp339Asn)
19g.18787513G>ACA506053058COMPc.1113C>T (p.Cys371=)
c.954C>T (p.Cys318=)
c.1014C>T (p.Cys338=)
19g.18787513G>CCA404887831COMPc.1113C>G (p.Cys371Trp)
c.954C>G (p.Cys318Trp)
c.1014C>G (p.Cys338Trp)
 ClinVar dbSNP
19g.18787513G>TCA404887833COMPc.1113C>A (p.Cys371Ter)
c.954C>A (p.Cys318Ter)
c.1014C>A (p.Cys338Ter)
 gnomAD v4
19g.18787514C>ACA404887842COMPc.1112G>T (p.Cys371Phe)
c.953G>T (p.Cys318Phe)
c.1013G>T (p.Cys338Phe)
19g.18787514C=CA2326526460COMPc.1112G= (p.Cys371=)
c.953G= (p.Cys318=)
c.1013G= (p.Cys338=)
19g.18787514C>GCA404887840COMPc.1112G>C (p.Cys371Ser)
c.953G>C (p.Cys318Ser)
c.1013G>C (p.Cys338Ser)
19g.18787514C>TCA16607768COMPc.1112G>A (p.Cys371Tyr)
c.953G>A (p.Cys318Tyr)
c.1013G>A (p.Cys338Tyr)
 ClinVar dbSNP
19g.18787515A>CCA404887846COMPc.1111T>G (p.Cys371Gly)
c.952T>G (p.Cys318Gly)
c.1012T>G (p.Cys338Gly)
19g.18787515A>GCA404887847COMPc.1111T>C (p.Cys371Arg)
c.952T>C (p.Cys318Arg)
c.1012T>C (p.Cys338Arg)
 ClinVar dbSNP
19g.18787515A>TCA404887848COMPc.1111T>A (p.Cys371Ser)
c.952T>A (p.Cys318Ser)
c.1012T>A (p.Cys338Ser)
 gnomAD v4
19g.18787516C>ACA506053059COMPc.1110G>T (p.Ala370=)
c.951G>T (p.Ala317=)
c.1011G>T (p.Ala337=)
19g.18787516C=CA2326526461COMPc.1110G= (p.Ala370=)
c.951G= (p.Ala317=)
c.1011G= (p.Ala337=)
19g.18787516C>GCA9316541COMPc.1110G>C (p.Ala370=)
c.951G>C (p.Ala317=)
c.1011G>C (p.Ala337=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.18787516C>TCA9316540COMPc.1110G>A (p.Ala370=)
c.951G>A (p.Ala317=)
c.1011G>A (p.Ala337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787517G>ACA9316542COMPc.1109C>T (p.Ala370Val)
c.950C>T (p.Ala317Val)
c.1010C>T (p.Ala337Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18787517G>CCA404887858COMPc.1109C>G (p.Ala370Gly)
c.950C>G (p.Ala317Gly)
c.1010C>G (p.Ala337Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18787517G=CA2326526462COMPc.1109C= (p.Ala370=)
c.950C= (p.Ala317=)
c.1010C= (p.Ala337=)
19g.18787517G>TCA404887860COMPc.1109C>A (p.Ala370Glu)
c.950C>A (p.Ala317Glu)
c.1010C>A (p.Ala337Glu)
 dbSNP gnomAD v4
19g.18787518C>ACA404887866COMPc.1108G>T (p.Ala370Ser)
c.949G>T (p.Ala317Ser)
c.1009G>T (p.Ala337Ser)
19g.18787518C>GCA404887869COMPc.1108G>C (p.Ala370Pro)
c.949G>C (p.Ala317Pro)
c.1009G>C (p.Ala337Pro)
19g.18787518C>TCA404887878COMPc.1108G>A (p.Ala370Thr)
c.949G>A (p.Ala317Thr)
c.1009G>A (p.Ala337Thr)
19g.18787519A>CCA404887882COMPc.1107T>G (p.Asp369Glu)
c.948T>G (p.Asp316Glu)
c.1008T>G (p.Asp336Glu)
19g.18787519A>GCA506053060COMPc.1107T>C (p.Asp369=)
c.948T>C (p.Asp316=)
c.1008T>C (p.Asp336=)
19g.18787519A>TCA404887883COMPc.1107T>A (p.Asp369Glu)
c.948T>A (p.Asp316Glu)
c.1008T>A (p.Asp336Glu)
19g.18787520T>ACA404887890COMPc.1106A>T (p.Asp369Val)
c.947A>T (p.Asp316Val)
c.1007A>T (p.Asp336Val)
19g.18787520T>CCA404887896COMPc.1106A>G (p.Asp369Gly)
c.947A>G (p.Asp316Gly)
c.1007A>G (p.Asp336Gly)
19g.18787520T>GCA404887892COMPc.1106A>C (p.Asp369Ala)
c.947A>C (p.Asp316Ala)
c.1007A>C (p.Asp336Ala)
19g.18787521C>ACA404887909COMPc.1105G>T (p.Asp369Tyr)
c.946G>T (p.Asp316Tyr)
c.1006G>T (p.Asp336Tyr)
19g.18787521C=CA2326526463COMPc.1105G= (p.Asp369=)
c.946G= (p.Asp316=)
c.1006G= (p.Asp336=)
19g.18787521C>GCA404887914COMPc.1105G>C (p.Asp369His)
c.946G>C (p.Asp316His)
c.1006G>C (p.Asp336His)
 dbSNP
19g.18787521C>TCA404887911COMPc.1105G>A (p.Asp369Asn)
c.946G>A (p.Asp316Asn)
c.1006G>A (p.Asp336Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.18787522G>ACA506053061COMPc.1104C>T (p.Gly368=)
c.945C>T (p.Gly315=)
c.1005C>T (p.Gly335=)
 ClinVar dbSNP COSMIC
19g.18787522G>CCA506053063COMPc.1104C>G (p.Gly368=)
c.945C>G (p.Gly315=)
c.1005C>G (p.Gly335=)
19g.18787522G=CA2326526464COMPc.1104C= (p.Gly368=)
c.945C= (p.Gly315=)
c.1005C= (p.Gly335=)
19g.18787522G>TCA506053062COMPc.1104C>A (p.Gly368=)
c.945C>A (p.Gly315=)
c.1005C>A (p.Gly335=)
 ClinVar gnomAD v4
19g.18787525_18787530delCA2573156202COMPc.1099_1104del (p.Arg367_Gly368del)
c.940_945del (p.Arg314_Gly315del)
c.1000_1005del (p.Arg334_Gly335del)
 ClinVar dbSNP
19g.18787523C>ACA404887918COMPc.1103G>T (p.Gly368Val)
c.944G>T (p.Gly315Val)
c.1004G>T (p.Gly335Val)
19g.18787523C>GCA404887927COMPc.1103G>C (p.Gly368Ala)
c.944G>C (p.Gly315Ala)
c.1004G>C (p.Gly335Ala)
19g.18787523C>TCA404887930COMPc.1103G>A (p.Gly368Asp)
c.944G>A (p.Gly315Asp)
c.1004G>A (p.Gly335Asp)
 gnomAD v4
19g.18787524C>ACA404887933COMPc.1102G>T (p.Gly368Cys)
c.943G>T (p.Gly315Cys)
c.1003G>T (p.Gly335Cys)
19g.18787524C=CA2326526465COMPc.1102G= (p.Gly368=)
c.943G= (p.Gly315=)
c.1003G= (p.Gly335=)
19g.18787524C>GCA404887936COMPc.1102G>C (p.Gly368Arg)
c.943G>C (p.Gly315Arg)
c.1003G>C (p.Gly335Arg)
19g.18787524C>TCA9316543COMPc.1102G>A (p.Gly368Ser)
c.943G>A (p.Gly315Ser)
c.1003G>A (p.Gly335Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787525C>ACA506053064COMPc.1101G>T (p.Arg367=)
c.942G>T (p.Arg314=)
c.1002G>T (p.Arg334=)
19g.18787525C>GCA506053065COMPc.1101G>C (p.Arg367=)
c.942G>C (p.Arg314=)
c.1002G>C (p.Arg334=)
19g.18787525C>TCA506053066COMPc.1101G>A (p.Arg367=)
c.942G>A (p.Arg314=)
c.1002G>A (p.Arg334=)
19g.18787526C>ACA404887948COMPc.1100G>T (p.Arg367Leu)
c.941G>T (p.Arg314Leu)
c.1001G>T (p.Arg334Leu)
 gnomAD v4
19g.18787526C=CA2326526466COMPc.1100G= (p.Arg367=)
c.941G= (p.Arg314=)
c.1001G= (p.Arg334=)
19g.18787526C>GCA404887945COMPc.1100G>C (p.Arg367Pro)
c.941G>C (p.Arg314Pro)
c.1001G>C (p.Arg334Pro)
 gnomAD v4
19g.18787526C>TCA9316544COMPc.1100G>A (p.Arg367Gln)
c.941G>A (p.Arg314Gln)
c.1001G>A (p.Arg334Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787527G>ACA9316545COMPc.1099C>T (p.Arg367Trp)
c.940C>T (p.Arg314Trp)
c.1000C>T (p.Arg334Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18787527G>CCA404887953COMPc.1099C>G (p.Arg367Gly)
c.940C>G (p.Arg314Gly)
c.1000C>G (p.Arg334Gly)
19g.18787527G=CA2326526467COMPc.1099C= (p.Arg367=)
c.940C= (p.Arg314=)
c.1000C= (p.Arg334=)
19g.18787527G>TCA506053067COMPc.1099C>A (p.Arg367=)
c.940C>A (p.Arg314=)
c.1000C>A (p.Arg334=)
19g.18787528G>ACA9316546COMPc.1098C>T (p.Gly366=)
c.939C>T (p.Gly313=)
c.999C>T (p.Gly333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787528G>CCA506053068COMPc.1098C>G (p.Gly366=)
c.939C>G (p.Gly313=)
c.999C>G (p.Gly333=)
19g.18787528G=CA2326526468COMPc.1098C= (p.Gly366=)
c.939C= (p.Gly313=)
c.999C= (p.Gly333=)
19g.18787528G>TCA506053069COMPc.1098C>A (p.Gly366=)
c.939C>A (p.Gly313=)
c.999C>A (p.Gly333=)
19g.18787529C>ACA404887967COMPc.1097G>T (p.Gly366Val)
c.938G>T (p.Gly313Val)
c.998G>T (p.Gly333Val)
19g.18787529C>GCA404887970COMPc.1097G>C (p.Gly366Ala)
c.938G>C (p.Gly313Ala)
c.998G>C (p.Gly333Ala)
19g.18787529C>TCA404887972COMPc.1097G>A (p.Gly366Asp)
c.938G>A (p.Gly313Asp)
c.998G>A (p.Gly333Asp)
 ClinVar gnomAD v4
19g.18787529_18787530insACGCATCA2573156203COMPc.1096_1097insATGCGT (p.Gly366delinsAspAlaCys)
c.937_938insATGCGT (p.Gly313delinsAspAlaCys)
c.997_998insATGCGT (p.Gly333delinsAspAlaCys)
 ClinVar dbSNP
19g.18787530C>ACA404887979COMPc.1096G>T (p.Gly366Cys)
c.937G>T (p.Gly313Cys)
c.997G>T (p.Gly333Cys)
19g.18787530C=CA2326526469COMPc.1096G= (p.Gly366=)
c.937G= (p.Gly313=)
c.997G= (p.Gly333=)
19g.18787530C>GCA404887976COMPc.1096G>C (p.Gly366Arg)
c.937G>C (p.Gly313Arg)
c.997G>C (p.Gly333Arg)
 dbSNP gnomAD v4
19g.18787530C>TCA404887978COMPc.1096G>A (p.Gly366Ser)
c.937G>A (p.Gly313Ser)
c.997G>A (p.Gly333Ser)
19g.18787531G>ACA506053070COMPc.1095C>T (p.Asp365=)
c.936C>T (p.Asp312=)
c.996C>T (p.Asp332=)
 dbSNP gnomAD v4
19g.18787531G>CCA404887984COMPc.1095C>G (p.Asp365Glu)
c.936C>G (p.Asp312Glu)
c.996C>G (p.Asp332Glu)
19g.18787531G=CA2326526470COMPc.1095C= (p.Asp365=)
c.936C= (p.Asp312=)
c.996C= (p.Asp332=)
19g.18787531G>TCA404887986COMPc.1095C>A (p.Asp365Glu)
c.936C>A (p.Asp312Glu)
c.996C>A (p.Asp332Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.18787532T>ACA404887987COMPc.1094A>T (p.Asp365Val)
c.935A>T (p.Asp312Val)
c.995A>T (p.Asp332Val)
19g.18787532T>CCA404887988COMPc.1094A>G (p.Asp365Gly)
c.935A>G (p.Asp312Gly)
c.995A>G (p.Asp332Gly)
 gnomAD v4
19g.18787532T>GCA404887990COMPc.1094A>C (p.Asp365Ala)
c.935A>C (p.Asp312Ala)
c.995A>C (p.Asp332Ala)
19g.18787533C>ACA404887995COMPc.1093G>T (p.Asp365Tyr)
c.934G>T (p.Asp312Tyr)
c.994G>T (p.Asp332Tyr)
19g.18787533C=CA2326526471COMPc.1093G= (p.Asp365=)
c.934G= (p.Asp312=)
c.994G= (p.Asp332=)
19g.18787533C>GCA404887998COMPc.1093G>C (p.Asp365His)
c.934G>C (p.Asp312His)
c.994G>C (p.Asp332His)
19g.18787533C>TCA306256559COMPc.1093G>A (p.Asp365Asn)
c.934G>A (p.Asp312Asn)
c.994G>A (p.Asp332Asn)
 dbSNP gnomAD v4
19g.18787534C>ACA404888004COMPc.1092G>T (p.Gln364His)
c.933G>T (p.Gln311His)
c.993G>T (p.Gln331His)
19g.18787534C=CA2326526472COMPc.1092G= (p.Gln364=)
c.933G= (p.Gln311=)
c.993G= (p.Gln331=)
19g.18787534C>GCA404888007COMPc.1092G>C (p.Gln364His)
c.933G>C (p.Gln311His)
c.993G>C (p.Gln331His)
19g.18787534C>TCA506053071COMPc.1092G>A (p.Gln364=)
c.933G>A (p.Gln311=)
c.993G>A (p.Gln331=)
 dbSNP gnomAD v2 gnomAD v4
19g.18787535T>ACA404888010COMPc.1091A>T (p.Gln364Leu)
c.932A>T (p.Gln311Leu)
c.992A>T (p.Gln331Leu)
19g.18787535T>CCA404888011COMPc.1091A>G (p.Gln364Arg)
c.932A>G (p.Gln311Arg)
c.992A>G (p.Gln331Arg)
19g.18787535T>GCA404888012COMPc.1091A>C (p.Gln364Pro)
c.932A>C (p.Gln311Pro)
c.992A>C (p.Gln331Pro)
19g.18787536G>ACA404888014COMPc.1090C>T (p.Gln364Ter)
c.931C>T (p.Gln311Ter)
c.991C>T (p.Gln331Ter)
 gnomAD v4
19g.18787536G>CCA404888018COMPc.1090C>G (p.Gln364Glu)
c.931C>G (p.Gln311Glu)
c.991C>G (p.Gln331Glu)
19g.18787536G>TCA404888016COMPc.1090C>A (p.Gln364Lys)
c.931C>A (p.Gln311Lys)
c.991C>A (p.Gln331Lys)
19g.18787537G>ACA506053072COMPc.1089C>T (p.Asp363=)
c.930C>T (p.Asp310=)
c.990C>T (p.Asp330=)
19g.18787537G>CCA404888024COMPc.1089C>G (p.Asp363Glu)
c.930C>G (p.Asp310Glu)
c.990C>G (p.Asp330Glu)
19g.18787537G>TCA404888027COMPc.1089C>A (p.Asp363Glu)
c.930C>A (p.Asp310Glu)
c.990C>A (p.Asp330Glu)
19g.18787538T>ACA404888029COMPc.1088A>T (p.Asp363Val)
c.929A>T (p.Asp310Val)
c.989A>T (p.Asp330Val)
19g.18787538T>CCA404888032COMPc.1088A>G (p.Asp363Gly)
c.929A>G (p.Asp310Gly)
c.989A>G (p.Asp330Gly)
19g.18787538T>GCA404888034COMPc.1088A>C (p.Asp363Ala)
c.929A>C (p.Asp310Ala)
c.989A>C (p.Asp330Ala)
19g.18787539C>ACA404888038COMPc.1087G>T (p.Asp363Tyr)
c.928G>T (p.Asp310Tyr)
c.988G>T (p.Asp330Tyr)
19g.18787539C>GCA404888039COMPc.1087G>C (p.Asp363His)
c.928G>C (p.Asp310His)
c.988G>C (p.Asp330His)
19g.18787539C>TCA404888042COMPc.1087G>A (p.Asp363Asn)
c.928G>A (p.Asp310Asn)
c.988G>A (p.Asp330Asn)
 COSMIC
19g.18787539_18787541delinsCTGCA2326526473COMPc.1085_1087delinsCAG (p.Thr362=)
c.926_928delinsCAG (p.Thr309=)
c.986_988delinsCAG (p.Thr329=)
19g.18787540T>ACA506053073COMPc.1086A>T (p.Thr362=)
c.927A>T (p.Thr309=)
c.987A>T (p.Thr329=)
19g.18787540T>CCA506053074COMPc.1086A>G (p.Thr362=)
c.927A>G (p.Thr309=)
c.987A>G (p.Thr329=)
 dbSNP
19g.18787540T>GCA506053075COMPc.1086A>C (p.Thr362=)
c.927A>C (p.Thr309=)
c.987A>C (p.Thr329=)
19g.18787540T=CA2326526007COMPc.1086A= (p.Thr362=)
c.927A= (p.Thr309=)
c.987A= (p.Thr329=)
19g.18787543_18787544delCA783973147COMPc.1085_1086del (p.Thr362ArgfsTer27)
c.926_927del (p.Thr309ArgfsTer27)
c.986_987del (p.Thr329ArgfsTer27)
 dbSNP gnomAD v3 gnomAD v4
19g.18787541G>ACA404888043COMPc.1085C>T (p.Thr362Ile)
c.926C>T (p.Thr309Ile)
c.986C>T (p.Thr329Ile)
19g.18787541G>CCA404888044COMPc.1085C>G (p.Thr362Arg)
c.926C>G (p.Thr309Arg)
c.986C>G (p.Thr329Arg)
19g.18787541G>TCA404888046COMPc.1085C>A (p.Thr362Lys)
c.926C>A (p.Thr309Lys)
c.986C>A (p.Thr329Lys)
19g.18787542T>ACA404888048COMPc.1084A>T (p.Thr362Ser)
c.925A>T (p.Thr309Ser)
c.985A>T (p.Thr329Ser)
19g.18787542T>CCA404888049COMPc.1084A>G (p.Thr362Ala)
c.925A>G (p.Thr309Ala)
c.985A>G (p.Thr329Ala)
 dbSNP
19g.18787542T>GCA404888052COMPc.1084A>C (p.Thr362Pro)
c.925A>C (p.Thr309Pro)
c.985A>C (p.Thr329Pro)
19g.18787542T=CA2326526009COMPc.1084A= (p.Thr362=)
c.925A= (p.Thr309=)
c.985A= (p.Thr329=)
19g.18787543G>ACA506053076COMPc.1083C>T (p.Asp361=)
c.924C>T (p.Asp308=)
c.984C>T (p.Asp328=)
 dbSNP
19g.18787543G>CCA404888054COMPc.1083C>G (p.Asp361Glu)
c.924C>G (p.Asp308Glu)
c.984C>G (p.Asp328Glu)
 gnomAD v4
19g.18787543G=CA2326526010COMPc.1083C= (p.Asp361=)
c.924C= (p.Asp308=)
c.984C= (p.Asp328=)
19g.18787543G>TCA404888056COMPc.1083C>A (p.Asp361Glu)
c.924C>A (p.Asp308Glu)
c.984C>A (p.Asp328Glu)
19g.18787544T>ACA404888058COMPc.1082A>T (p.Asp361Val)
c.923A>T (p.Asp308Val)
c.983A>T (p.Asp328Val)
19g.18787544T>CCA404888060COMPc.1082A>G (p.Asp361Gly)
c.923A>G (p.Asp308Gly)
c.983A>G (p.Asp328Gly)
19g.18787544T>GCA404888061COMPc.1082A>C (p.Asp361Ala)
c.923A>C (p.Asp308Ala)
c.983A>C (p.Asp328Ala)
19g.18787545C>ACA404888064COMPc.1081G>T (p.Asp361Tyr)
c.922G>T (p.Asp308Tyr)
c.982G>T (p.Asp328Tyr)
 gnomAD v4
19g.18787545C>GCA404888066COMPc.1081G>C (p.Asp361His)
c.922G>C (p.Asp308His)
c.982G>C (p.Asp328His)
19g.18787545C>TCA404888081COMPc.1081G>A (p.Asp361Asn)
c.922G>A (p.Asp308Asn)
c.982G>A (p.Asp328Asn)
 COSMIC
19g.18787546delCA2583622630COMPc.1081del (p.Asp361ThrfsTer?)
c.922del (p.Asp308ThrfsTer?)
c.982del (p.Asp328ThrfsTer?)
 gnomAD v4
19g.18787546C>ACA404888082COMPc.1080G>T (p.Lys360Asn)
c.921G>T (p.Lys307Asn)
c.981G>T (p.Lys327Asn)
19g.18787546C=CA2326526011COMPc.1080G= (p.Lys360=)
c.921G= (p.Lys307=)
c.981G= (p.Lys327=)
19g.18787546C>GCA404888084COMPc.1080G>C (p.Lys360Asn)
c.921G>C (p.Lys307Asn)
c.981G>C (p.Lys327Asn)
 dbSNP
19g.18787546C>TCA506053077COMPc.1080G>A (p.Lys360=)
c.921G>A (p.Lys307=)
c.981G>A (p.Lys327=)
 dbSNP gnomAD v3 gnomAD v4
19g.18787547T>ACA404888087COMPc.1079A>T (p.Lys360Met)
c.920A>T (p.Lys307Met)
c.980A>T (p.Lys327Met)
 gnomAD v4
19g.18787547T>CCA404888090COMPc.1079A>G (p.Lys360Arg)
c.920A>G (p.Lys307Arg)
c.980A>G (p.Lys327Arg)
19g.18787547T>GCA404888093COMPc.1079A>C (p.Lys360Thr)
c.920A>C (p.Lys307Thr)
c.980A>C (p.Lys327Thr)
 dbSNP gnomAD v4
19g.18787547T=CA2326526012COMPc.1079A= (p.Lys360=)
c.920A= (p.Lys307=)
c.980A= (p.Lys327=)
19g.18787550dupCA2583622631COMPc.1079dup (p.Asp361GlyfsTer29)
c.920dup (p.Asp308GlyfsTer29)
c.980dup (p.Asp328GlyfsTer29)
 gnomAD v4

Number of alleles fetched