Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13752104T=CA1528422890DNAH5c.11028+30A= (n.11028+30A=)
c.10983+30A= (n.10983+30A=)
c.11136+30A= (n.11136+30A=)
c.10041+30A= (n.10041+30A=)
c.6225+30A= (n.6225+30A=)
c.5778+30A= (n.5778+30A=)
c.5115+30A= (n.5115+30A=)
c.9630+30A= (n.9630+30A=)
5g.13752105G>CCA1528422893DNAH5c.11028+29C>G (n.11028+29C>G)
c.10983+29C>G (n.10983+29C>G)
c.11136+29C>G (n.11136+29C>G)
c.10041+29C>G (n.10041+29C>G)
c.6225+29C>G (n.6225+29C>G)
c.5778+29C>G (n.5778+29C>G)
c.5115+29C>G (n.5115+29C>G)
c.9630+29C>G (n.9630+29C>G)
 dbSNP gnomAD v4
5g.13752105G=CA1528422892DNAH5c.11028+29C= (n.11028+29C=)
c.10983+29C= (n.10983+29C=)
c.11136+29C= (n.11136+29C=)
c.10041+29C= (n.10041+29C=)
c.6225+29C= (n.6225+29C=)
c.5778+29C= (n.5778+29C=)
c.5115+29C= (n.5115+29C=)
c.9630+29C= (n.9630+29C=)
5g.13752106_13752122dupCA1528422891DNAH5c.11028+13_11028+29dup (n.11028+13_11028+29dup)
c.10983+13_10983+29dup (n.10983+13_10983+29dup)
c.11136+13_11136+29dup (n.11136+13_11136+29dup)
c.10041+13_10041+29dup (n.10041+13_10041+29dup)
c.6225+13_6225+29dup (n.6225+13_6225+29dup)
c.5778+13_5778+29dup (n.5778+13_5778+29dup)
c.5115+13_5115+29dup (n.5115+13_5115+29dup)
c.9630+13_9630+29dup (n.9630+13_9630+29dup)
 dbSNP
5g.13752106C>ACA2673270307DNAH5c.11028+28G>T (n.11028+28G>T)
c.10983+28G>T (n.10983+28G>T)
c.11136+28G>T (n.11136+28G>T)
c.10041+28G>T (n.10041+28G>T)
c.6225+28G>T (n.6225+28G>T)
c.5778+28G>T (n.5778+28G>T)
c.5115+28G>T (n.5115+28G>T)
c.9630+28G>T (n.9630+28G>T)
 gnomAD v4
5g.13752106C=CA1528422894DNAH5c.11028+28G= (n.11028+28G=)
c.10983+28G= (n.10983+28G=)
c.11136+28G= (n.11136+28G=)
c.10041+28G= (n.10041+28G=)
c.6225+28G= (n.6225+28G=)
c.5778+28G= (n.5778+28G=)
c.5115+28G= (n.5115+28G=)
c.9630+28G= (n.9630+28G=)
5g.13752106C>TCA804438639DNAH5c.11028+28G>A (n.11028+28G>A)
c.10983+28G>A (n.10983+28G>A)
c.11136+28G>A (n.11136+28G>A)
c.10041+28G>A (n.10041+28G>A)
c.6225+28G>A (n.6225+28G>A)
c.5778+28G>A (n.5778+28G>A)
c.5115+28G>A (n.5115+28G>A)
c.9630+28G>A (n.9630+28G>A)
 dbSNP gnomAD v4
5g.13752107A>TCA2765347455DNAH5c.11028+27T>A (n.11028+27T>A)
c.10983+27T>A (n.10983+27T>A)
c.11136+27T>A (n.11136+27T>A)
c.10041+27T>A (n.10041+27T>A)
c.6225+27T>A (n.6225+27T>A)
c.5778+27T>A (n.5778+27T>A)
c.5115+27T>A (n.5115+27T>A)
c.9630+27T>A (n.9630+27T>A)
5g.13752108C>TCA2673270308DNAH5c.11028+26G>A (n.11028+26G>A)
c.10983+26G>A (n.10983+26G>A)
c.11136+26G>A (n.11136+26G>A)
c.10041+26G>A (n.10041+26G>A)
c.6225+26G>A (n.6225+26G>A)
c.5778+26G>A (n.5778+26G>A)
c.5115+26G>A (n.5115+26G>A)
c.9630+26G>A (n.9630+26G>A)
 gnomAD v4
5g.13752109A=CA1528422895DNAH5c.11028+25T= (n.11028+25T=)
c.10983+25T= (n.10983+25T=)
c.11136+25T= (n.11136+25T=)
c.10041+25T= (n.10041+25T=)
c.6225+25T= (n.6225+25T=)
c.5778+25T= (n.5778+25T=)
c.5115+25T= (n.5115+25T=)
c.9630+25T= (n.9630+25T=)
5g.13752109A>GCA3202079DNAH5c.11028+25T>C (n.11028+25T>C)
c.10983+25T>C (n.10983+25T>C)
c.11136+25T>C (n.11136+25T>C)
c.10041+25T>C (n.10041+25T>C)
c.6225+25T>C (n.6225+25T>C)
c.5778+25T>C (n.5778+25T>C)
c.5115+25T>C (n.5115+25T>C)
c.9630+25T>C (n.9630+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752110T>CCA1528422897DNAH5c.11028+24A>G (n.11028+24A>G)
c.10983+24A>G (n.10983+24A>G)
c.11136+24A>G (n.11136+24A>G)
c.10041+24A>G (n.10041+24A>G)
c.6225+24A>G (n.6225+24A>G)
c.5778+24A>G (n.5778+24A>G)
c.5115+24A>G (n.5115+24A>G)
c.9630+24A>G (n.9630+24A>G)
 dbSNP gnomAD v4
5g.13752110T=CA1528422896DNAH5c.11028+24A= (n.11028+24A=)
c.10983+24A= (n.10983+24A=)
c.11136+24A= (n.11136+24A=)
c.10041+24A= (n.10041+24A=)
c.6225+24A= (n.6225+24A=)
c.5778+24A= (n.5778+24A=)
c.5115+24A= (n.5115+24A=)
c.9630+24A= (n.9630+24A=)
5g.13752111T>CCA557867059DNAH5c.11028+23A>G (n.11028+23A>G)
c.10983+23A>G (n.10983+23A>G)
c.11136+23A>G (n.11136+23A>G)
c.10041+23A>G (n.10041+23A>G)
c.6225+23A>G (n.6225+23A>G)
c.5778+23A>G (n.5778+23A>G)
c.5115+23A>G (n.5115+23A>G)
c.9630+23A>G (n.9630+23A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.13752111T=CA1528422898DNAH5c.11028+23A= (n.11028+23A=)
c.10983+23A= (n.10983+23A=)
c.11136+23A= (n.11136+23A=)
c.10041+23A= (n.10041+23A=)
c.6225+23A= (n.6225+23A=)
c.5778+23A= (n.5778+23A=)
c.5115+23A= (n.5115+23A=)
c.9630+23A= (n.9630+23A=)
5g.13752115A=CA1528422899DNAH5c.11028+19T= (n.11028+19T=)
c.10983+19T= (n.10983+19T=)
c.11136+19T= (n.11136+19T=)
c.10041+19T= (n.10041+19T=)
c.6225+19T= (n.6225+19T=)
c.5778+19T= (n.5778+19T=)
c.5115+19T= (n.5115+19T=)
c.9630+19T= (n.9630+19T=)
5g.13752115A>CCA804438648DNAH5c.11028+19T>G (n.11028+19T>G)
c.10983+19T>G (n.10983+19T>G)
c.11136+19T>G (n.11136+19T>G)
c.10041+19T>G (n.10041+19T>G)
c.6225+19T>G (n.6225+19T>G)
c.5778+19T>G (n.5778+19T>G)
c.5115+19T>G (n.5115+19T>G)
c.9630+19T>G (n.9630+19T>G)
 dbSNP gnomAD v3 gnomAD v4
5g.13752115A>TCA2673270309DNAH5c.11028+19T>A (n.11028+19T>A)
c.10983+19T>A (n.10983+19T>A)
c.11136+19T>A (n.11136+19T>A)
c.10041+19T>A (n.10041+19T>A)
c.6225+19T>A (n.6225+19T>A)
c.5778+19T>A (n.5778+19T>A)
c.5115+19T>A (n.5115+19T>A)
c.9630+19T>A (n.9630+19T>A)
 gnomAD v4
5g.13752116T>CCA2673270310DNAH5c.11028+18A>G (n.11028+18A>G)
c.10983+18A>G (n.10983+18A>G)
c.11136+18A>G (n.11136+18A>G)
c.10041+18A>G (n.10041+18A>G)
c.6225+18A>G (n.6225+18A>G)
c.5778+18A>G (n.5778+18A>G)
c.5115+18A>G (n.5115+18A>G)
c.9630+18A>G (n.9630+18A>G)
 gnomAD v4
5g.13752117C>ACA3202080DNAH5c.11028+17G>T (n.11028+17G>T)
c.10983+17G>T (n.10983+17G>T)
c.11136+17G>T (n.11136+17G>T)
c.10041+17G>T (n.10041+17G>T)
c.6225+17G>T (n.6225+17G>T)
c.5778+17G>T (n.5778+17G>T)
c.5115+17G>T (n.5115+17G>T)
c.9630+17G>T (n.9630+17G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752117C=CA1528422900DNAH5c.11028+17G= (n.11028+17G=)
c.10983+17G= (n.10983+17G=)
c.11136+17G= (n.11136+17G=)
c.10041+17G= (n.10041+17G=)
c.6225+17G= (n.6225+17G=)
c.5778+17G= (n.5778+17G=)
c.5115+17G= (n.5115+17G=)
c.9630+17G= (n.9630+17G=)
5g.13752117C>TCA2765347456DNAH5c.11028+17G>A (n.11028+17G>A)
c.10983+17G>A (n.10983+17G>A)
c.11136+17G>A (n.11136+17G>A)
c.10041+17G>A (n.10041+17G>A)
c.6225+17G>A (n.6225+17G>A)
c.5778+17G>A (n.5778+17G>A)
c.5115+17G>A (n.5115+17G>A)
c.9630+17G>A (n.9630+17G>A)
5g.13752117_13752121delCA2695204200DNAH5c.11028+13_11028+17del (n.11028+13_11028+17del)
c.10983+13_10983+17del (n.10983+13_10983+17del)
c.11136+13_11136+17del (n.11136+13_11136+17del)
c.10041+13_10041+17del (n.10041+13_10041+17del)
c.6225+13_6225+17del (n.6225+13_6225+17del)
c.5778+13_5778+17del (n.5778+13_5778+17del)
c.5115+13_5115+17del (n.5115+13_5115+17del)
c.9630+13_9630+17del (n.9630+13_9630+17del)
5g.13752118C=CA1528422901DNAH5c.11028+16G= (n.11028+16G=)
c.10983+16G= (n.10983+16G=)
c.11136+16G= (n.11136+16G=)
c.10041+16G= (n.10041+16G=)
c.6225+16G= (n.6225+16G=)
c.5778+16G= (n.5778+16G=)
c.5115+16G= (n.5115+16G=)
c.9630+16G= (n.9630+16G=)
5g.13752118C>GCA557867060DNAH5c.11028+16G>C (n.11028+16G>C)
c.10983+16G>C (n.10983+16G>C)
c.11136+16G>C (n.11136+16G>C)
c.10041+16G>C (n.10041+16G>C)
c.6225+16G>C (n.6225+16G>C)
c.5778+16G>C (n.5778+16G>C)
c.5115+16G>C (n.5115+16G>C)
c.9630+16G>C (n.9630+16G>C)
 dbSNP gnomAD v2 gnomAD v4
5g.13752118C>TCA804438660DNAH5c.11028+16G>A (n.11028+16G>A)
c.10983+16G>A (n.10983+16G>A)
c.11136+16G>A (n.11136+16G>A)
c.10041+16G>A (n.10041+16G>A)
c.6225+16G>A (n.6225+16G>A)
c.5778+16G>A (n.5778+16G>A)
c.5115+16G>A (n.5115+16G>A)
c.9630+16G>A (n.9630+16G>A)
 dbSNP
5g.13752119A=CA1528422902DNAH5c.11028+15T= (n.11028+15T=)
c.10983+15T= (n.10983+15T=)
c.11136+15T= (n.11136+15T=)
c.10041+15T= (n.10041+15T=)
c.6225+15T= (n.6225+15T=)
c.5778+15T= (n.5778+15T=)
c.5115+15T= (n.5115+15T=)
c.9630+15T= (n.9630+15T=)
5g.13752119A>GCA3202081DNAH5c.11028+15T>C (n.11028+15T>C)
c.10983+15T>C (n.10983+15T>C)
c.11136+15T>C (n.11136+15T>C)
c.10041+15T>C (n.10041+15T>C)
c.6225+15T>C (n.6225+15T>C)
c.5778+15T>C (n.5778+15T>C)
c.5115+15T>C (n.5115+15T>C)
c.9630+15T>C (n.9630+15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752120T>CCA3202082DNAH5c.11028+14A>G (n.11028+14A>G)
c.10983+14A>G (n.10983+14A>G)
c.11136+14A>G (n.11136+14A>G)
c.10041+14A>G (n.10041+14A>G)
c.6225+14A>G (n.6225+14A>G)
c.5778+14A>G (n.5778+14A>G)
c.5115+14A>G (n.5115+14A>G)
c.9630+14A>G (n.9630+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752120T=CA1528422903DNAH5c.11028+14A= (n.11028+14A=)
c.10983+14A= (n.10983+14A=)
c.11136+14A= (n.11136+14A=)
c.10041+14A= (n.10041+14A=)
c.6225+14A= (n.6225+14A=)
c.5778+14A= (n.5778+14A=)
c.5115+14A= (n.5115+14A=)
c.9630+14A= (n.9630+14A=)
5g.13752121A=CA1528422904DNAH5c.11028+13T= (n.11028+13T=)
c.10983+13T= (n.10983+13T=)
c.11136+13T= (n.11136+13T=)
c.10041+13T= (n.10041+13T=)
c.6225+13T= (n.6225+13T=)
c.5778+13T= (n.5778+13T=)
c.5115+13T= (n.5115+13T=)
c.9630+13T= (n.9630+13T=)
5g.13752121A>CCA1073401445DNAH5c.11028+13T>G (n.11028+13T>G)
c.10983+13T>G (n.10983+13T>G)
c.11136+13T>G (n.11136+13T>G)
c.10041+13T>G (n.10041+13T>G)
c.6225+13T>G (n.6225+13T>G)
c.5778+13T>G (n.5778+13T>G)
c.5115+13T>G (n.5115+13T>G)
c.9630+13T>G (n.9630+13T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13752122G>ACA3202083DNAH5c.11028+12C>T (n.11028+12C>T)
c.10983+12C>T (n.10983+12C>T)
c.11136+12C>T (n.11136+12C>T)
c.10041+12C>T (n.10041+12C>T)
c.6225+12C>T (n.6225+12C>T)
c.5778+12C>T (n.5778+12C>T)
c.5115+12C>T (n.5115+12C>T)
c.9630+12C>T (n.9630+12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752122G>CCA2739274576DNAH5c.11028+12C>G (n.11028+12C>G)
c.10983+12C>G (n.10983+12C>G)
c.11136+12C>G (n.11136+12C>G)
c.10041+12C>G (n.10041+12C>G)
c.6225+12C>G (n.6225+12C>G)
c.5778+12C>G (n.5778+12C>G)
c.5115+12C>G (n.5115+12C>G)
c.9630+12C>G (n.9630+12C>G)
 ClinVar
5g.13752122G=CA1528422905DNAH5c.11028+12C= (n.11028+12C=)
c.10983+12C= (n.10983+12C=)
c.11136+12C= (n.11136+12C=)
c.10041+12C= (n.10041+12C=)
c.6225+12C= (n.6225+12C=)
c.5778+12C= (n.5778+12C=)
c.5115+12C= (n.5115+12C=)
c.9630+12C= (n.9630+12C=)
5g.13752123G>CCA2673270311DNAH5c.11028+11C>G (n.11028+11C>G)
c.10983+11C>G (n.10983+11C>G)
c.11136+11C>G (n.11136+11C>G)
c.10041+11C>G (n.10041+11C>G)
c.6225+11C>G (n.6225+11C>G)
c.5778+11C>G (n.5778+11C>G)
c.5115+11C>G (n.5115+11C>G)
c.9630+11C>G (n.9630+11C>G)
 gnomAD v4
5g.13752123G>TCA2739274577DNAH5c.11028+11C>A (n.11028+11C>A)
c.10983+11C>A (n.10983+11C>A)
c.11136+11C>A (n.11136+11C>A)
c.10041+11C>A (n.10041+11C>A)
c.6225+11C>A (n.6225+11C>A)
c.5778+11C>A (n.5778+11C>A)
c.5115+11C>A (n.5115+11C>A)
c.9630+11C>A (n.9630+11C>A)
 ClinVar
5g.13752124_13752140delCA2695204201DNAH5c.11023_11028+11del
c.10978_10983+11del
c.11131_11136+11del
c.10036_10041+11del
c.6220_6225+11del
c.5773_5778+11del
c.5110_5115+11del
c.9625_9630+11del
5g.13752126T>ACA2578269755DNAH5c.11028+8A>T (n.11028+8A>T)
c.10983+8A>T (n.10983+8A>T)
c.11136+8A>T (n.11136+8A>T)
c.10041+8A>T (n.10041+8A>T)
c.6225+8A>T (n.6225+8A>T)
c.5778+8A>T (n.5778+8A>T)
c.5115+8A>T (n.5115+8A>T)
c.9630+8A>T (n.9630+8A>T)
 ClinVar gnomAD v4
5g.13752129C>ACA804438669DNAH5c.11028+5G>T (n.11028+5G>T)
c.10983+5G>T (n.10983+5G>T)
c.11136+5G>T (n.11136+5G>T)
c.10041+5G>T (n.10041+5G>T)
c.6225+5G>T (n.6225+5G>T)
c.5778+5G>T (n.5778+5G>T)
c.5115+5G>T (n.5115+5G>T)
c.9630+5G>T (n.9630+5G>T)
 dbSNP gnomAD v3 gnomAD v4
5g.13752129C=CA1528422906DNAH5c.11028+5G= (n.11028+5G=)
c.10983+5G= (n.10983+5G=)
c.11136+5G= (n.11136+5G=)
c.10041+5G= (n.10041+5G=)
c.6225+5G= (n.6225+5G=)
c.5778+5G= (n.5778+5G=)
c.5115+5G= (n.5115+5G=)
c.9630+5G= (n.9630+5G=)
5g.13752129C>TCA1139658755DNAH5c.11028+5G>A (n.11028+5G>A)
c.10983+5G>A (n.10983+5G>A)
c.11136+5G>A (n.11136+5G>A)
c.10041+5G>A (n.10041+5G>A)
c.6225+5G>A (n.6225+5G>A)
c.5778+5G>A (n.5778+5G>A)
c.5115+5G>A (n.5115+5G>A)
c.9630+5G>A (n.9630+5G>A)
 ClinVar dbSNP
5g.13752130C>ACA2673270312DNAH5c.11028+4G>T (n.11028+4G>T)
c.10983+4G>T (n.10983+4G>T)
c.11136+4G>T (n.11136+4G>T)
c.10041+4G>T (n.10041+4G>T)
c.6225+4G>T (n.6225+4G>T)
c.5778+4G>T (n.5778+4G>T)
c.5115+4G>T (n.5115+4G>T)
c.9630+4G>T (n.9630+4G>T)
 gnomAD v4
5g.13752131T>CCA2708214354DNAH5c.11028+3A>G (n.11028+3A>G)
c.10983+3A>G (n.10983+3A>G)
c.11136+3A>G (n.11136+3A>G)
c.10041+3A>G (n.10041+3A>G)
c.6225+3A>G (n.6225+3A>G)
c.5778+3A>G (n.5778+3A>G)
c.5115+3A>G (n.5115+3A>G)
c.9630+3A>G (n.9630+3A>G)
 dbSNP
5g.13752132A=CA1528422907DNAH5c.11028+2T= (n.11028+2T=)
c.10983+2T= (n.10983+2T=)
c.11136+2T= (n.11136+2T=)
c.10041+2T= (n.10041+2T=)
c.6225+2T= (n.6225+2T=)
c.5778+2T= (n.5778+2T=)
c.5115+2T= (n.5115+2T=)
c.9630+2T= (n.9630+2T=)
5g.13752132A>CCA3202084DNAH5c.11028+2T>G (n.11028+2T>G)
c.10983+2T>G (n.10983+2T>G)
c.11136+2T>G (n.11136+2T>G)
c.10041+2T>G (n.10041+2T>G)
c.6225+2T>G (n.6225+2T>G)
c.5778+2T>G (n.5778+2T>G)
c.5115+2T>G (n.5115+2T>G)
c.9630+2T>G (n.9630+2T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752132A>GCA359189605DNAH5c.11028+2T>C (n.11028+2T>C)
c.10983+2T>C (n.10983+2T>C)
c.11136+2T>C (n.11136+2T>C)
c.10041+2T>C (n.10041+2T>C)
c.6225+2T>C (n.6225+2T>C)
c.5778+2T>C (n.5778+2T>C)
c.5115+2T>C (n.5115+2T>C)
c.9630+2T>C (n.9630+2T>C)
 ClinVar dbSNP
5g.13752132A>TCA359189607DNAH5c.11028+2T>A (n.11028+2T>A)
c.10983+2T>A (n.10983+2T>A)
c.11136+2T>A (n.11136+2T>A)
c.10041+2T>A (n.10041+2T>A)
c.6225+2T>A (n.6225+2T>A)
c.5778+2T>A (n.5778+2T>A)
c.5115+2T>A (n.5115+2T>A)
c.9630+2T>A (n.9630+2T>A)
5g.13752133C>ACA359189613DNAH5c.11028+1G>T (n.11028+1G>T)
c.10983+1G>T (n.10983+1G>T)
c.11136+1G>T (n.11136+1G>T)
c.10041+1G>T (n.10041+1G>T)
c.6225+1G>T (n.6225+1G>T)
c.5778+1G>T (n.5778+1G>T)
c.5115+1G>T (n.5115+1G>T)
c.9630+1G>T (n.9630+1G>T)
5g.13752133C>GCA359189609DNAH5c.11028+1G>C (n.11028+1G>C)
c.10983+1G>C (n.10983+1G>C)
c.11136+1G>C (n.11136+1G>C)
c.10041+1G>C (n.10041+1G>C)
c.6225+1G>C (n.6225+1G>C)
c.5778+1G>C (n.5778+1G>C)
c.5115+1G>C (n.5115+1G>C)
c.9630+1G>C (n.9630+1G>C)
 ClinVar dbSNP
5g.13752133C>TCA359189611DNAH5c.11028+1G>A (n.11028+1G>A)
c.10983+1G>A (n.10983+1G>A)
c.11136+1G>A (n.11136+1G>A)
c.10041+1G>A (n.10041+1G>A)
c.6225+1G>A (n.6225+1G>A)
c.5778+1G>A (n.5778+1G>A)
c.5115+1G>A (n.5115+1G>A)
c.9630+1G>A (n.9630+1G>A)
5g.13752134delCA2580072138DNAH5c.11028+1del
c.10983+1del
c.11136+1del
c.10041+1del
c.6225+1del
c.5778+1del
c.5115+1del
c.9630+1del
 ClinVar
5g.13752134C>ACA359189615DNAH5c.11028G>T (p.Lys3676Asn)
c.10983G>T (p.Lys3661Asn)
c.11136G>T (p.Lys3712Asn)
c.10041G>T (p.Lys3347Asn)
c.6225G>T (p.Lys2075Asn)
c.5778G>T (p.Lys1926Asn)
c.5115G>T (p.Lys1705Asn)
c.9630G>T (p.Lys3210Asn)
 COSMIC
5g.13752134C=CA1528422908DNAH5c.11028G= (p.Lys3676=)
c.10983G= (p.Lys3661=)
c.11136G= (p.Lys3712=)
c.10041G= (p.Lys3347=)
c.6225G= (p.Lys2075=)
c.5778G= (p.Lys1926=)
c.5115G= (p.Lys1705=)
c.9630G= (p.Lys3210=)
5g.13752134C>GCA359189617DNAH5c.11028G>C (p.Lys3676Asn)
c.10983G>C (p.Lys3661Asn)
c.11136G>C (p.Lys3712Asn)
c.10041G>C (p.Lys3347Asn)
c.6225G>C (p.Lys2075Asn)
c.5778G>C (p.Lys1926Asn)
c.5115G>C (p.Lys1705Asn)
c.9630G>C (p.Lys3210Asn)
5g.13752134C>TCA443248576DNAH5c.11028G>A (p.Lys3676=)
c.10983G>A (p.Lys3661=)
c.11136G>A (p.Lys3712=)
c.10041G>A (p.Lys3347=)
c.6225G>A (p.Lys2075=)
c.5778G>A (p.Lys1926=)
c.5115G>A (p.Lys1705=)
c.9630G>A (p.Lys3210=)
5g.13752135T>ACA359189619DNAH5c.11027A>T (p.Lys3676Met)
c.10982A>T (p.Lys3661Met)
c.11135A>T (p.Lys3712Met)
c.10040A>T (p.Lys3347Met)
c.6224A>T (p.Lys2075Met)
c.5777A>T (p.Lys1926Met)
c.5114A>T (p.Lys1705Met)
c.9629A>T (p.Lys3210Met)
5g.13752135T>CCA359189621DNAH5c.11027A>G (p.Lys3676Arg)
c.10982A>G (p.Lys3661Arg)
c.11135A>G (p.Lys3712Arg)
c.10040A>G (p.Lys3347Arg)
c.6224A>G (p.Lys2075Arg)
c.5777A>G (p.Lys1926Arg)
c.5114A>G (p.Lys1705Arg)
c.9629A>G (p.Lys3210Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.13752135T>GCA359189623DNAH5c.11027A>C (p.Lys3676Thr)
c.10982A>C (p.Lys3661Thr)
c.11135A>C (p.Lys3712Thr)
c.10040A>C (p.Lys3347Thr)
c.6224A>C (p.Lys2075Thr)
c.5777A>C (p.Lys1926Thr)
c.5114A>C (p.Lys1705Thr)
c.9629A>C (p.Lys3210Thr)
5g.13752135T=CA1528422909DNAH5c.11027A= (p.Lys3676=)
c.10982A= (p.Lys3661=)
c.11135A= (p.Lys3712=)
c.10040A= (p.Lys3347=)
c.6224A= (p.Lys2075=)
c.5777A= (p.Lys1926=)
c.5114A= (p.Lys1705=)
c.9629A= (p.Lys3210=)
5g.13752135_13752136insATGGTCA804438676DNAH5c.11027_11028insCCATA (p.Lys3676AsnfsTer4)
c.10982_10983insCCATA (p.Lys3661AsnfsTer4)
c.11135_11136insCCATA (p.Lys3712AsnfsTer4)
c.10040_10041insCCATA (p.Lys3347AsnfsTer4)
c.6224_6225insCCATA (p.Lys2075AsnfsTer4)
c.5777_5778insCCATA (p.Lys1926AsnfsTer4)
c.5114_5115insCCATA (p.Lys1705AsnfsTer4)
c.9629_9630insCCATA (p.Lys3210AsnfsTer4)
 dbSNP
5g.13752135_13752137delinsTTACA1528422910DNAH5c.11025_11027delinsTAA (p.Phe3675=)
c.10980_10982delinsTAA (p.Phe3660=)
c.11133_11135delinsTAA (p.Phe3711=)
c.10038_10040delinsTAA (p.Phe3346=)
c.6222_6224delinsTAA (p.Phe2074=)
c.5775_5777delinsTAA (p.Phe1925=)
c.5112_5114delinsTAA (p.Phe1704=)
c.9627_9629delinsTAA (p.Phe3209=)
5g.13752136T>ACA359189625DNAH5c.11026A>T (p.Lys3676Ter)
c.10981A>T (p.Lys3661Ter)
c.11134A>T (p.Lys3712Ter)
c.10039A>T (p.Lys3347Ter)
c.6223A>T (p.Lys2075Ter)
c.5776A>T (p.Lys1926Ter)
c.5113A>T (p.Lys1705Ter)
c.9628A>T (p.Lys3210Ter)
 ClinVar dbSNP
5g.13752136T>CCA359189627DNAH5c.11026A>G (p.Lys3676Glu)
c.10981A>G (p.Lys3661Glu)
c.11134A>G (p.Lys3712Glu)
c.10039A>G (p.Lys3347Glu)
c.6223A>G (p.Lys2075Glu)
c.5776A>G (p.Lys1926Glu)
c.5113A>G (p.Lys1705Glu)
c.9628A>G (p.Lys3210Glu)
5g.13752136T>GCA359189629DNAH5c.11026A>C (p.Lys3676Gln)
c.10981A>C (p.Lys3661Gln)
c.11134A>C (p.Lys3712Gln)
c.10039A>C (p.Lys3347Gln)
c.6223A>C (p.Lys2075Gln)
c.5776A>C (p.Lys1926Gln)
c.5113A>C (p.Lys1705Gln)
c.9628A>C (p.Lys3210Gln)
5g.13752136T=CA1528422911DNAH5c.11026A= (p.Lys3676=)
c.10981A= (p.Lys3661=)
c.11134A= (p.Lys3712=)
c.10039A= (p.Lys3347=)
c.6223A= (p.Lys2075=)
c.5776A= (p.Lys1926=)
c.5113A= (p.Lys1705=)
c.9628A= (p.Lys3210=)
5g.13752136_13752137delCA1073401448DNAH5c.11025_11026del (p.Phe3675LeufsTer6)
c.10980_10981del (p.Phe3660LeufsTer6)
c.11133_11134del (p.Phe3711LeufsTer6)
c.10038_10039del (p.Phe3346LeufsTer6)
c.6222_6223del (p.Phe2074LeufsTer6)
c.5775_5776del (p.Phe1925LeufsTer6)
c.5112_5113del (p.Phe1704LeufsTer6)
c.9627_9628del (p.Phe3209LeufsTer6)
 dbSNP gnomAD v3 gnomAD v4
5g.13752136_13752138delinsTAACA1528422912DNAH5c.11024_11026delinsTTA (p.Phe3675=)
c.10979_10981delinsTTA (p.Phe3660=)
c.11132_11134delinsTTA (p.Phe3711=)
c.10037_10039delinsTTA (p.Phe3346=)
c.6221_6223delinsTTA (p.Phe2074=)
c.5774_5776delinsTTA (p.Phe1925=)
c.5111_5113delinsTTA (p.Phe1704=)
c.9626_9628delinsTTA (p.Phe3209=)
5g.13752137A>CCA359189631DNAH5c.11025T>G (p.Phe3675Leu)
c.10980T>G (p.Phe3660Leu)
c.11133T>G (p.Phe3711Leu)
c.10038T>G (p.Phe3346Leu)
c.6222T>G (p.Phe2074Leu)
c.5775T>G (p.Phe1925Leu)
c.5112T>G (p.Phe1704Leu)
c.9627T>G (p.Phe3209Leu)
5g.13752137A>GCA443248577DNAH5c.11025T>C (p.Phe3675=)
c.10980T>C (p.Phe3660=)
c.11133T>C (p.Phe3711=)
c.10038T>C (p.Phe3346=)
c.6222T>C (p.Phe2074=)
c.5775T>C (p.Phe1925=)
c.5112T>C (p.Phe1704=)
c.9627T>C (p.Phe3209=)
5g.13752137A>TCA359189632DNAH5c.11025T>A (p.Phe3675Leu)
c.10980T>A (p.Phe3660Leu)
c.11133T>A (p.Phe3711Leu)
c.10038T>A (p.Phe3346Leu)
c.6222T>A (p.Phe2074Leu)
c.5775T>A (p.Phe1925Leu)
c.5112T>A (p.Phe1704Leu)
c.9627T>A (p.Phe3209Leu)
5g.13752138_13752139delCA804438683DNAH5c.11024_11025del (p.Phe3675Ter)
c.10979_10980del (p.Phe3660Ter)
c.11132_11133del (p.Phe3711Ter)
c.10037_10038del (p.Phe3346Ter)
c.6221_6222del (p.Phe2074Ter)
c.5774_5775del (p.Phe1925Ter)
c.5111_5112del (p.Phe1704Ter)
c.9626_9627del (p.Phe3209Ter)
 dbSNP
5g.13752138A=CA1528422913DNAH5c.11024T= (p.Phe3675=)
c.10979T= (p.Phe3660=)
c.11132T= (p.Phe3711=)
c.10037T= (p.Phe3346=)
c.6221T= (p.Phe2074=)
c.5774T= (p.Phe1925=)
c.5111T= (p.Phe1704=)
c.9626T= (p.Phe3209=)
5g.13752138A>CCA359189635DNAH5c.11024T>G (p.Phe3675Cys)
c.10979T>G (p.Phe3660Cys)
c.11132T>G (p.Phe3711Cys)
c.10037T>G (p.Phe3346Cys)
c.6221T>G (p.Phe2074Cys)
c.5774T>G (p.Phe1925Cys)
c.5111T>G (p.Phe1704Cys)
c.9626T>G (p.Phe3209Cys)
5g.13752138A>GCA359189636DNAH5c.11024T>C (p.Phe3675Ser)
c.10979T>C (p.Phe3660Ser)
c.11132T>C (p.Phe3711Ser)
c.10037T>C (p.Phe3346Ser)
c.6221T>C (p.Phe2074Ser)
c.5774T>C (p.Phe1925Ser)
c.5111T>C (p.Phe1704Ser)
c.9626T>C (p.Phe3209Ser)
5g.13752138A>TCA359189640DNAH5c.11024T>A (p.Phe3675Tyr)
c.10979T>A (p.Phe3660Tyr)
c.11132T>A (p.Phe3711Tyr)
c.10037T>A (p.Phe3346Tyr)
c.6221T>A (p.Phe2074Tyr)
c.5774T>A (p.Phe1925Tyr)
c.5111T>A (p.Phe1704Tyr)
c.9626T>A (p.Phe3209Tyr)
5g.13752138_13752139insTGGTTCA1073401453DNAH5c.11023_11024insAACCA (p.Phe3675Ter)
c.10978_10979insAACCA (p.Phe3660Ter)
c.11131_11132insAACCA (p.Phe3711Ter)
c.10036_10037insAACCA (p.Phe3346Ter)
c.6220_6221insAACCA (p.Phe2074Ter)
c.5773_5774insAACCA (p.Phe1925Ter)
c.5110_5111insAACCA (p.Phe1704Ter)
c.9625_9626insAACCA (p.Phe3209Ter)
 dbSNP gnomAD v3 gnomAD v4
5g.13752139A>CCA359189644DNAH5c.11023T>G (p.Phe3675Val)
c.10978T>G (p.Phe3660Val)
c.11131T>G (p.Phe3711Val)
c.10036T>G (p.Phe3346Val)
c.6220T>G (p.Phe2074Val)
c.5773T>G (p.Phe1925Val)
c.5110T>G (p.Phe1704Val)
c.9625T>G (p.Phe3209Val)
5g.13752139A>GCA359189646DNAH5c.11023T>C (p.Phe3675Leu)
c.10978T>C (p.Phe3660Leu)
c.11131T>C (p.Phe3711Leu)
c.10036T>C (p.Phe3346Leu)
c.6220T>C (p.Phe2074Leu)
c.5773T>C (p.Phe1925Leu)
c.5110T>C (p.Phe1704Leu)
c.9625T>C (p.Phe3209Leu)
5g.13752139A>TCA359189642DNAH5c.11023T>A (p.Phe3675Ile)
c.10978T>A (p.Phe3660Ile)
c.11131T>A (p.Phe3711Ile)
c.10036T>A (p.Phe3346Ile)
c.6220T>A (p.Phe2074Ile)
c.5773T>A (p.Phe1925Ile)
c.5110T>A (p.Phe1704Ile)
c.9625T>A (p.Phe3209Ile)
5g.13752140G>ACA443248579DNAH5c.11022C>T (p.Thr3674=)
c.10977C>T (p.Thr3659=)
c.11130C>T (p.Thr3710=)
c.10035C>T (p.Thr3345=)
c.6219C>T (p.Thr2073=)
c.5772C>T (p.Thr1924=)
c.5109C>T (p.Thr1703=)
c.9624C>T (p.Thr3208=)
5g.13752140G>CCA443248580DNAH5c.11022C>G (p.Thr3674=)
c.10977C>G (p.Thr3659=)
c.11130C>G (p.Thr3710=)
c.10035C>G (p.Thr3345=)
c.6219C>G (p.Thr2073=)
c.5772C>G (p.Thr1924=)
c.5109C>G (p.Thr1703=)
c.9624C>G (p.Thr3208=)
5g.13752140G>TCA443248581DNAH5c.11022C>A (p.Thr3674=)
c.10977C>A (p.Thr3659=)
c.11130C>A (p.Thr3710=)
c.10035C>A (p.Thr3345=)
c.6219C>A (p.Thr2073=)
c.5772C>A (p.Thr1924=)
c.5109C>A (p.Thr1703=)
c.9624C>A (p.Thr3208=)
5g.13752141delCA2673270313DNAH5c.11022del (p.Phe3675LeufsTer3)
c.10977del (p.Phe3660LeufsTer3)
c.11130del (p.Phe3711LeufsTer3)
c.10035del (p.Phe3346LeufsTer3)
c.6219del (p.Phe2074LeufsTer3)
c.5772del (p.Phe1925LeufsTer3)
c.5109del (p.Phe1704LeufsTer3)
c.9624del (p.Phe3209LeufsTer3)
 gnomAD v4
5g.13752141G>ACA359189648DNAH5c.11021C>T (p.Thr3674Ile)
c.10976C>T (p.Thr3659Ile)
c.11129C>T (p.Thr3710Ile)
c.10034C>T (p.Thr3345Ile)
c.6218C>T (p.Thr2073Ile)
c.5771C>T (p.Thr1924Ile)
c.5108C>T (p.Thr1703Ile)
c.9623C>T (p.Thr3208Ile)
 gnomAD v4
5g.13752141G>CCA359189653DNAH5c.11021C>G (p.Thr3674Ser)
c.10976C>G (p.Thr3659Ser)
c.11129C>G (p.Thr3710Ser)
c.10034C>G (p.Thr3345Ser)
c.6218C>G (p.Thr2073Ser)
c.5771C>G (p.Thr1924Ser)
c.5108C>G (p.Thr1703Ser)
c.9623C>G (p.Thr3208Ser)
5g.13752141G=CA1528422914DNAH5c.11021C= (p.Thr3674=)
c.10976C= (p.Thr3659=)
c.11129C= (p.Thr3710=)
c.10034C= (p.Thr3345=)
c.6218C= (p.Thr2073=)
c.5771C= (p.Thr1924=)
c.5108C= (p.Thr1703=)
c.9623C= (p.Thr3208=)
5g.13752141G>TCA359189651DNAH5c.11021C>A (p.Thr3674Asn)
c.10976C>A (p.Thr3659Asn)
c.11129C>A (p.Thr3710Asn)
c.10034C>A (p.Thr3345Asn)
c.6218C>A (p.Thr2073Asn)
c.5771C>A (p.Thr1924Asn)
c.5108C>A (p.Thr1703Asn)
c.9623C>A (p.Thr3208Asn)
 dbSNP
5g.13752142delCA2673270314DNAH5c.11020del (p.Thr3674ProfsTer4)
c.10975del (p.Thr3659ProfsTer4)
c.11128del (p.Thr3710ProfsTer4)
c.10033del (p.Thr3345ProfsTer4)
c.6217del (p.Thr2073ProfsTer4)
c.5770del (p.Thr1924ProfsTer4)
c.5107del (p.Thr1703ProfsTer4)
c.9622del (p.Thr3208ProfsTer4)
 gnomAD v4
5g.13752142T>ACA359189656DNAH5c.11020A>T (p.Thr3674Ser)
c.10975A>T (p.Thr3659Ser)
c.11128A>T (p.Thr3710Ser)
c.10033A>T (p.Thr3345Ser)
c.6217A>T (p.Thr2073Ser)
c.5770A>T (p.Thr1924Ser)
c.5107A>T (p.Thr1703Ser)
c.9622A>T (p.Thr3208Ser)
5g.13752142T>CCA359189660DNAH5c.11020A>G (p.Thr3674Ala)
c.10975A>G (p.Thr3659Ala)
c.11128A>G (p.Thr3710Ala)
c.10033A>G (p.Thr3345Ala)
c.6217A>G (p.Thr2073Ala)
c.5770A>G (p.Thr1924Ala)
c.5107A>G (p.Thr1703Ala)
c.9622A>G (p.Thr3208Ala)
 dbSNP gnomAD v4
5g.13752142T>GCA359189657DNAH5c.11020A>C (p.Thr3674Pro)
c.10975A>C (p.Thr3659Pro)
c.11128A>C (p.Thr3710Pro)
c.10033A>C (p.Thr3345Pro)
c.6217A>C (p.Thr2073Pro)
c.5770A>C (p.Thr1924Pro)
c.5107A>C (p.Thr1703Pro)
c.9622A>C (p.Thr3208Pro)
5g.13752142T=CA1528422915DNAH5c.11020A= (p.Thr3674=)
c.10975A= (p.Thr3659=)
c.11128A= (p.Thr3710=)
c.10033A= (p.Thr3345=)
c.6217A= (p.Thr2073=)
c.5770A= (p.Thr1924=)
c.5107A= (p.Thr1703=)
c.9622A= (p.Thr3208=)
5g.13752143A>CCA443248584DNAH5c.11019T>G (p.Ser3673=)
c.10974T>G (p.Ser3658=)
c.11127T>G (p.Ser3709=)
c.10032T>G (p.Ser3344=)
c.6216T>G (p.Ser2072=)
c.5769T>G (p.Ser1923=)
c.5106T>G (p.Ser1702=)
c.9621T>G (p.Ser3207=)
5g.13752143A>GCA443248585DNAH5c.11019T>C (p.Ser3673=)
c.10974T>C (p.Ser3658=)
c.11127T>C (p.Ser3709=)
c.10032T>C (p.Ser3344=)
c.6216T>C (p.Ser2072=)
c.5769T>C (p.Ser1923=)
c.5106T>C (p.Ser1702=)
c.9621T>C (p.Ser3207=)
 gnomAD v4
5g.13752143A>TCA443248586DNAH5c.11019T>A (p.Ser3673=)
c.10974T>A (p.Ser3658=)
c.11127T>A (p.Ser3709=)
c.10032T>A (p.Ser3344=)
c.6216T>A (p.Ser2072=)
c.5769T>A (p.Ser1923=)
c.5106T>A (p.Ser1702=)
c.9621T>A (p.Ser3207=)
5g.13752144G>ACA359189662DNAH5c.11018C>T (p.Ser3673Phe)
c.10973C>T (p.Ser3658Phe)
c.11126C>T (p.Ser3709Phe)
c.10031C>T (p.Ser3344Phe)
c.6215C>T (p.Ser2072Phe)
c.5768C>T (p.Ser1923Phe)
c.5105C>T (p.Ser1702Phe)
c.9620C>T (p.Ser3207Phe)
 ClinVar dbSNP
5g.13752144G>CCA359189664DNAH5c.11018C>G (p.Ser3673Cys)
c.10973C>G (p.Ser3658Cys)
c.11126C>G (p.Ser3709Cys)
c.10031C>G (p.Ser3344Cys)
c.6215C>G (p.Ser2072Cys)
c.5768C>G (p.Ser1923Cys)
c.5105C>G (p.Ser1702Cys)
c.9620C>G (p.Ser3207Cys)
5g.13752144G=CA1528422916DNAH5c.11018C= (p.Ser3673=)
c.10973C= (p.Ser3658=)
c.11126C= (p.Ser3709=)
c.10031C= (p.Ser3344=)
c.6215C= (p.Ser2072=)
c.5768C= (p.Ser1923=)
c.5105C= (p.Ser1702=)
c.9620C= (p.Ser3207=)
5g.13752144G>TCA359189665DNAH5c.11018C>A (p.Ser3673Tyr)
c.10973C>A (p.Ser3658Tyr)
c.11126C>A (p.Ser3709Tyr)
c.10031C>A (p.Ser3344Tyr)
c.6215C>A (p.Ser2072Tyr)
c.5768C>A (p.Ser1923Tyr)
c.5105C>A (p.Ser1702Tyr)
c.9620C>A (p.Ser3207Tyr)
5g.13752145A=CA1528422917DNAH5c.11017T= (p.Ser3673=)
c.10972T= (p.Ser3658=)
c.11125T= (p.Ser3709=)
c.10030T= (p.Ser3344=)
c.6214T= (p.Ser2072=)
c.5767T= (p.Ser1923=)
c.5104T= (p.Ser1702=)
c.9619T= (p.Ser3207=)
5g.13752145A>CCA359189667DNAH5c.11017T>G (p.Ser3673Ala)
c.10972T>G (p.Ser3658Ala)
c.11125T>G (p.Ser3709Ala)
c.10030T>G (p.Ser3344Ala)
c.6214T>G (p.Ser2072Ala)
c.5767T>G (p.Ser1923Ala)
c.5104T>G (p.Ser1702Ala)
c.9619T>G (p.Ser3207Ala)
5g.13752145A>GCA359189668DNAH5c.11017T>C (p.Ser3673Pro)
c.10972T>C (p.Ser3658Pro)
c.11125T>C (p.Ser3709Pro)
c.10030T>C (p.Ser3344Pro)
c.6214T>C (p.Ser2072Pro)
c.5767T>C (p.Ser1923Pro)
c.5104T>C (p.Ser1702Pro)
c.9619T>C (p.Ser3207Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752145A>TCA359189669DNAH5c.11017T>A (p.Ser3673Thr)
c.10972T>A (p.Ser3658Thr)
c.11125T>A (p.Ser3709Thr)
c.10030T>A (p.Ser3344Thr)
c.6214T>A (p.Ser2072Thr)
c.5767T>A (p.Ser1923Thr)
c.5104T>A (p.Ser1702Thr)
c.9619T>A (p.Ser3207Thr)
5g.13752146C>ACA443248589DNAH5c.11016G>T (p.Gly3672=)
c.10971G>T (p.Gly3657=)
c.11124G>T (p.Gly3708=)
c.10029G>T (p.Gly3343=)
c.6213G>T (p.Gly2071=)
c.5766G>T (p.Gly1922=)
c.5103G>T (p.Gly1701=)
c.9618G>T (p.Gly3206=)
 ClinVar dbSNP gnomAD v4
5g.13752146C=CA1528422918DNAH5c.11016G= (p.Gly3672=)
c.10971G= (p.Gly3657=)
c.11124G= (p.Gly3708=)
c.10029G= (p.Gly3343=)
c.6213G= (p.Gly2071=)
c.5766G= (p.Gly1922=)
c.5103G= (p.Gly1701=)
c.9618G= (p.Gly3206=)
5g.13752146C>GCA443248591DNAH5c.11016G>C (p.Gly3672=)
c.10971G>C (p.Gly3657=)
c.11124G>C (p.Gly3708=)
c.10029G>C (p.Gly3343=)
c.6213G>C (p.Gly2071=)
c.5766G>C (p.Gly1922=)
c.5103G>C (p.Gly1701=)
c.9618G>C (p.Gly3206=)
5g.13752146C>TCA443248592DNAH5c.11016G>A (p.Gly3672=)
c.10971G>A (p.Gly3657=)
c.11124G>A (p.Gly3708=)
c.10029G>A (p.Gly3343=)
c.6213G>A (p.Gly2071=)
c.5766G>A (p.Gly1922=)
c.5103G>A (p.Gly1701=)
c.9618G>A (p.Gly3206=)
 dbSNP gnomAD v4
5g.13752147C>ACA359189674DNAH5c.11015G>T (p.Gly3672Val)
c.10970G>T (p.Gly3657Val)
c.11123G>T (p.Gly3708Val)
c.10028G>T (p.Gly3343Val)
c.6212G>T (p.Gly2071Val)
c.5765G>T (p.Gly1922Val)
c.5102G>T (p.Gly1701Val)
c.9617G>T (p.Gly3206Val)
5g.13752147C>GCA359189673DNAH5c.11015G>C (p.Gly3672Ala)
c.10970G>C (p.Gly3657Ala)
c.11123G>C (p.Gly3708Ala)
c.10028G>C (p.Gly3343Ala)
c.6212G>C (p.Gly2071Ala)
c.5765G>C (p.Gly1922Ala)
c.5102G>C (p.Gly1701Ala)
c.9617G>C (p.Gly3206Ala)
5g.13752147C>TCA359189671DNAH5c.11015G>A (p.Gly3672Glu)
c.10970G>A (p.Gly3657Glu)
c.11123G>A (p.Gly3708Glu)
c.10028G>A (p.Gly3343Glu)
c.6212G>A (p.Gly2071Glu)
c.5765G>A (p.Gly1922Glu)
c.5102G>A (p.Gly1701Glu)
c.9617G>A (p.Gly3206Glu)
 ClinVar gnomAD v4 COSMIC
5g.13752148C>ACA359189675DNAH5c.11014G>T (p.Gly3672Trp)
c.10969G>T (p.Gly3657Trp)
c.11122G>T (p.Gly3708Trp)
c.10027G>T (p.Gly3343Trp)
c.6211G>T (p.Gly2071Trp)
c.5764G>T (p.Gly1922Trp)
c.5101G>T (p.Gly1701Trp)
c.9616G>T (p.Gly3206Trp)
5g.13752148C>GCA359189677DNAH5c.11014G>C (p.Gly3672Arg)
c.10969G>C (p.Gly3657Arg)
c.11122G>C (p.Gly3708Arg)
c.10027G>C (p.Gly3343Arg)
c.6211G>C (p.Gly2071Arg)
c.5764G>C (p.Gly1922Arg)
c.5101G>C (p.Gly1701Arg)
c.9616G>C (p.Gly3206Arg)
5g.13752148C>TCA359189678DNAH5c.11014G>A (p.Gly3672Arg)
c.10969G>A (p.Gly3657Arg)
c.11122G>A (p.Gly3708Arg)
c.10027G>A (p.Gly3343Arg)
c.6211G>A (p.Gly2071Arg)
c.5764G>A (p.Gly1922Arg)
c.5101G>A (p.Gly1701Arg)
c.9616G>A (p.Gly3206Arg)
5g.13752149A=CA1528422919DNAH5c.11013T= (p.Thr3671=)
c.10968T= (p.Thr3656=)
c.11121T= (p.Thr3707=)
c.10026T= (p.Thr3342=)
c.6210T= (p.Thr2070=)
c.5763T= (p.Thr1921=)
c.5100T= (p.Thr1700=)
c.9615T= (p.Thr3205=)
5g.13752149A>CCA443248594DNAH5c.11013T>G (p.Thr3671=)
c.10968T>G (p.Thr3656=)
c.11121T>G (p.Thr3707=)
c.10026T>G (p.Thr3342=)
c.6210T>G (p.Thr2070=)
c.5763T>G (p.Thr1921=)
c.5100T>G (p.Thr1700=)
c.9615T>G (p.Thr3205=)
5g.13752149A>GCA443248595DNAH5c.11013T>C (p.Thr3671=)
c.10968T>C (p.Thr3656=)
c.11121T>C (p.Thr3707=)
c.10026T>C (p.Thr3342=)
c.6210T>C (p.Thr2070=)
c.5763T>C (p.Thr1921=)
c.5100T>C (p.Thr1700=)
c.9615T>C (p.Thr3205=)
 dbSNP gnomAD v3 gnomAD v4
5g.13752149A>TCA443248596DNAH5c.11013T>A (p.Thr3671=)
c.10968T>A (p.Thr3656=)
c.11121T>A (p.Thr3707=)
c.10026T>A (p.Thr3342=)
c.6210T>A (p.Thr2070=)
c.5763T>A (p.Thr1921=)
c.5100T>A (p.Thr1700=)
c.9615T>A (p.Thr3205=)
5g.13752150G>ACA359189680DNAH5c.11012C>T (p.Thr3671Ile)
c.10967C>T (p.Thr3656Ile)
c.11120C>T (p.Thr3707Ile)
c.10025C>T (p.Thr3342Ile)
c.6209C>T (p.Thr2070Ile)
c.5762C>T (p.Thr1921Ile)
c.5099C>T (p.Thr1700Ile)
c.9614C>T (p.Thr3205Ile)
 dbSNP
5g.13752150G>CCA359189681DNAH5c.11012C>G (p.Thr3671Ser)
c.10967C>G (p.Thr3656Ser)
c.11120C>G (p.Thr3707Ser)
c.10025C>G (p.Thr3342Ser)
c.6209C>G (p.Thr2070Ser)
c.5762C>G (p.Thr1921Ser)
c.5099C>G (p.Thr1700Ser)
c.9614C>G (p.Thr3205Ser)
5g.13752150G=CA1528422920DNAH5c.11012C= (p.Thr3671=)
c.10967C= (p.Thr3656=)
c.11120C= (p.Thr3707=)
c.10025C= (p.Thr3342=)
c.6209C= (p.Thr2070=)
c.5762C= (p.Thr1921=)
c.5099C= (p.Thr1700=)
c.9614C= (p.Thr3205=)
5g.13752150G>TCA359189683DNAH5c.11012C>A (p.Thr3671Asn)
c.10967C>A (p.Thr3656Asn)
c.11120C>A (p.Thr3707Asn)
c.10025C>A (p.Thr3342Asn)
c.6209C>A (p.Thr2070Asn)
c.5762C>A (p.Thr1921Asn)
c.5099C>A (p.Thr1700Asn)
c.9614C>A (p.Thr3205Asn)
5g.13752151T>ACA359189685DNAH5c.11011A>T (p.Thr3671Ser)
c.10966A>T (p.Thr3656Ser)
c.11119A>T (p.Thr3707Ser)
c.10024A>T (p.Thr3342Ser)
c.6208A>T (p.Thr2070Ser)
c.5761A>T (p.Thr1921Ser)
c.5098A>T (p.Thr1700Ser)
c.9613A>T (p.Thr3205Ser)
5g.13752151T>CCA359189689DNAH5c.11011A>G (p.Thr3671Ala)
c.10966A>G (p.Thr3656Ala)
c.11119A>G (p.Thr3707Ala)
c.10024A>G (p.Thr3342Ala)
c.6208A>G (p.Thr2070Ala)
c.5761A>G (p.Thr1921Ala)
c.5098A>G (p.Thr1700Ala)
c.9613A>G (p.Thr3205Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.13752151T>GCA359189687DNAH5c.11011A>C (p.Thr3671Pro)
c.10966A>C (p.Thr3656Pro)
c.11119A>C (p.Thr3707Pro)
c.10024A>C (p.Thr3342Pro)
c.6208A>C (p.Thr2070Pro)
c.5761A>C (p.Thr1921Pro)
c.5098A>C (p.Thr1700Pro)
c.9613A>C (p.Thr3205Pro)
5g.13752151T=CA1528422921DNAH5c.11011A= (p.Thr3671=)
c.10966A= (p.Thr3656=)
c.11119A= (p.Thr3707=)
c.10024A= (p.Thr3342=)
c.6208A= (p.Thr2070=)
c.5761A= (p.Thr1921=)
c.5098A= (p.Thr1700=)
c.9613A= (p.Thr3205=)
5g.13752152T>ACA359189691DNAH5c.11010A>T (p.Lys3670Asn)
c.10965A>T (p.Lys3655Asn)
c.11118A>T (p.Lys3706Asn)
c.10023A>T (p.Lys3341Asn)
c.6207A>T (p.Lys2069Asn)
c.5760A>T (p.Lys1920Asn)
c.5097A>T (p.Lys1699Asn)
c.9612A>T (p.Lys3204Asn)
5g.13752152T>CCA443248598DNAH5c.11010A>G (p.Lys3670=)
c.10965A>G (p.Lys3655=)
c.11118A>G (p.Lys3706=)
c.10023A>G (p.Lys3341=)
c.6207A>G (p.Lys2069=)
c.5760A>G (p.Lys1920=)
c.5097A>G (p.Lys1699=)
c.9612A>G (p.Lys3204=)
5g.13752152T>GCA359189693DNAH5c.11010A>C (p.Lys3670Asn)
c.10965A>C (p.Lys3655Asn)
c.11118A>C (p.Lys3706Asn)
c.10023A>C (p.Lys3341Asn)
c.6207A>C (p.Lys2069Asn)
c.5760A>C (p.Lys1920Asn)
c.5097A>C (p.Lys1699Asn)
c.9612A>C (p.Lys3204Asn)
5g.13752153T>ACA359189695DNAH5c.11009A>T (p.Lys3670Ile)
c.10964A>T (p.Lys3655Ile)
c.11117A>T (p.Lys3706Ile)
c.10022A>T (p.Lys3341Ile)
c.6206A>T (p.Lys2069Ile)
c.5759A>T (p.Lys1920Ile)
c.5096A>T (p.Lys1699Ile)
c.9611A>T (p.Lys3204Ile)
5g.13752153T>CCA359189697DNAH5c.11009A>G (p.Lys3670Arg)
c.10964A>G (p.Lys3655Arg)
c.11117A>G (p.Lys3706Arg)
c.10022A>G (p.Lys3341Arg)
c.6206A>G (p.Lys2069Arg)
c.5759A>G (p.Lys1920Arg)
c.5096A>G (p.Lys1699Arg)
c.9611A>G (p.Lys3204Arg)
5g.13752153T>GCA359189698DNAH5c.11009A>C (p.Lys3670Thr)
c.10964A>C (p.Lys3655Thr)
c.11117A>C (p.Lys3706Thr)
c.10022A>C (p.Lys3341Thr)
c.6206A>C (p.Lys2069Thr)
c.5759A>C (p.Lys1920Thr)
c.5096A>C (p.Lys1699Thr)
c.9611A>C (p.Lys3204Thr)
5g.13752154T>ACA359189700DNAH5c.11008A>T (p.Lys3670Ter)
c.10963A>T (p.Lys3655Ter)
c.11116A>T (p.Lys3706Ter)
c.10021A>T (p.Lys3341Ter)
c.6205A>T (p.Lys2069Ter)
c.5758A>T (p.Lys1920Ter)
c.5095A>T (p.Lys1699Ter)
c.9610A>T (p.Lys3204Ter)
5g.13752154T>CCA359189702DNAH5c.11008A>G (p.Lys3670Glu)
c.10963A>G (p.Lys3655Glu)
c.11116A>G (p.Lys3706Glu)
c.10021A>G (p.Lys3341Glu)
c.6205A>G (p.Lys2069Glu)
c.5758A>G (p.Lys1920Glu)
c.5095A>G (p.Lys1699Glu)
c.9610A>G (p.Lys3204Glu)
5g.13752154T>GCA359189704DNAH5c.11008A>C (p.Lys3670Gln)
c.10963A>C (p.Lys3655Gln)
c.11116A>C (p.Lys3706Gln)
c.10021A>C (p.Lys3341Gln)
c.6205A>C (p.Lys2069Gln)
c.5758A>C (p.Lys1920Gln)
c.5095A>C (p.Lys1699Gln)
c.9610A>C (p.Lys3204Gln)
5g.13752155A>CCA359189706DNAH5c.11007T>G (p.Ile3669Met)
c.10962T>G (p.Ile3654Met)
c.11115T>G (p.Ile3705Met)
c.10020T>G (p.Ile3340Met)
c.6204T>G (p.Ile2068Met)
c.5757T>G (p.Ile1919Met)
c.5094T>G (p.Ile1698Met)
c.9609T>G (p.Ile3203Met)
5g.13752155A>GCA443248601DNAH5c.11007T>C (p.Ile3669=)
c.10962T>C (p.Ile3654=)
c.11115T>C (p.Ile3705=)
c.10020T>C (p.Ile3340=)
c.6204T>C (p.Ile2068=)
c.5757T>C (p.Ile1919=)
c.5094T>C (p.Ile1698=)
c.9609T>C (p.Ile3203=)
5g.13752155A>TCA443248603DNAH5c.11007T>A (p.Ile3669=)
c.10962T>A (p.Ile3654=)
c.11115T>A (p.Ile3705=)
c.10020T>A (p.Ile3340=)
c.6204T>A (p.Ile2068=)
c.5757T>A (p.Ile1919=)
c.5094T>A (p.Ile1698=)
c.9609T>A (p.Ile3203=)
5g.13752156A>CCA359189708DNAH5c.11006T>G (p.Ile3669Ser)
c.10961T>G (p.Ile3654Ser)
c.11114T>G (p.Ile3705Ser)
c.10019T>G (p.Ile3340Ser)
c.6203T>G (p.Ile2068Ser)
c.5756T>G (p.Ile1919Ser)
c.5093T>G (p.Ile1698Ser)
c.9608T>G (p.Ile3203Ser)
5g.13752156A>GCA359189710DNAH5c.11006T>C (p.Ile3669Thr)
c.10961T>C (p.Ile3654Thr)
c.11114T>C (p.Ile3705Thr)
c.10019T>C (p.Ile3340Thr)
c.6203T>C (p.Ile2068Thr)
c.5756T>C (p.Ile1919Thr)
c.5093T>C (p.Ile1698Thr)
c.9608T>C (p.Ile3203Thr)
5g.13752156A>TCA359189712DNAH5c.11006T>A (p.Ile3669Asn)
c.10961T>A (p.Ile3654Asn)
c.11114T>A (p.Ile3705Asn)
c.10019T>A (p.Ile3340Asn)
c.6203T>A (p.Ile2068Asn)
c.5756T>A (p.Ile1919Asn)
c.5093T>A (p.Ile1698Asn)
c.9608T>A (p.Ile3203Asn)
5g.13752157T>ACA359189719DNAH5c.11005A>T (p.Ile3669Phe)
c.10960A>T (p.Ile3654Phe)
c.11113A>T (p.Ile3705Phe)
c.10018A>T (p.Ile3340Phe)
c.6202A>T (p.Ile2068Phe)
c.5755A>T (p.Ile1919Phe)
c.5092A>T (p.Ile1698Phe)
c.9607A>T (p.Ile3203Phe)
5g.13752157T>CCA359189715DNAH5c.11005A>G (p.Ile3669Val)
c.10960A>G (p.Ile3654Val)
c.11113A>G (p.Ile3705Val)
c.10018A>G (p.Ile3340Val)
c.6202A>G (p.Ile2068Val)
c.5755A>G (p.Ile1919Val)
c.5092A>G (p.Ile1698Val)
c.9607A>G (p.Ile3203Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752157T>GCA359189717DNAH5c.11005A>C (p.Ile3669Leu)
c.10960A>C (p.Ile3654Leu)
c.11113A>C (p.Ile3705Leu)
c.10018A>C (p.Ile3340Leu)
c.6202A>C (p.Ile2068Leu)
c.5755A>C (p.Ile1919Leu)
c.5092A>C (p.Ile1698Leu)
c.9607A>C (p.Ile3203Leu)
 ClinVar gnomAD v4
5g.13752157T=CA1528422922DNAH5c.11005A= (p.Ile3669=)
c.10960A= (p.Ile3654=)
c.11113A= (p.Ile3705=)
c.10018A= (p.Ile3340=)
c.6202A= (p.Ile2068=)
c.5755A= (p.Ile1919=)
c.5092A= (p.Ile1698=)
c.9607A= (p.Ile3203=)
5g.13752158G>ACA443248606DNAH5c.11004C>T (p.Phe3668=)
c.10959C>T (p.Phe3653=)
c.11112C>T (p.Phe3704=)
c.10017C>T (p.Phe3339=)
c.6201C>T (p.Phe2067=)
c.5754C>T (p.Phe1918=)
c.5091C>T (p.Phe1697=)
c.9606C>T (p.Phe3202=)
 COSMIC
5g.13752158G>CCA359189721DNAH5c.11004C>G (p.Phe3668Leu)
c.10959C>G (p.Phe3653Leu)
c.11112C>G (p.Phe3704Leu)
c.10017C>G (p.Phe3339Leu)
c.6201C>G (p.Phe2067Leu)
c.5754C>G (p.Phe1918Leu)
c.5091C>G (p.Phe1697Leu)
c.9606C>G (p.Phe3202Leu)
5g.13752158G=CA1528422923DNAH5c.11004C= (p.Phe3668=)
c.10959C= (p.Phe3653=)
c.11112C= (p.Phe3704=)
c.10017C= (p.Phe3339=)
c.6201C= (p.Phe2067=)
c.5754C= (p.Phe1918=)
c.5091C= (p.Phe1697=)
c.9606C= (p.Phe3202=)
5g.13752158G>TCA359189723DNAH5c.11004C>A (p.Phe3668Leu)
c.10959C>A (p.Phe3653Leu)
c.11112C>A (p.Phe3704Leu)
c.10017C>A (p.Phe3339Leu)
c.6201C>A (p.Phe2067Leu)
c.5754C>A (p.Phe1918Leu)
c.5091C>A (p.Phe1697Leu)
c.9606C>A (p.Phe3202Leu)
 dbSNP
5g.13752159A=CA1528422924DNAH5c.11003T= (p.Phe3668=)
c.10958T= (p.Phe3653=)
c.11111T= (p.Phe3704=)
c.10016T= (p.Phe3339=)
c.6200T= (p.Phe2067=)
c.5753T= (p.Phe1918=)
c.5090T= (p.Phe1697=)
c.9605T= (p.Phe3202=)
5g.13752159A>CCA359189725DNAH5c.11003T>G (p.Phe3668Cys)
c.10958T>G (p.Phe3653Cys)
c.11111T>G (p.Phe3704Cys)
c.10016T>G (p.Phe3339Cys)
c.6200T>G (p.Phe2067Cys)
c.5753T>G (p.Phe1918Cys)
c.5090T>G (p.Phe1697Cys)
c.9605T>G (p.Phe3202Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.13752159A>GCA359189727DNAH5c.11003T>C (p.Phe3668Ser)
c.10958T>C (p.Phe3653Ser)
c.11111T>C (p.Phe3704Ser)
c.10016T>C (p.Phe3339Ser)
c.6200T>C (p.Phe2067Ser)
c.5753T>C (p.Phe1918Ser)
c.5090T>C (p.Phe1697Ser)
c.9605T>C (p.Phe3202Ser)
5g.13752159A>TCA359189730DNAH5c.11003T>A (p.Phe3668Tyr)
c.10958T>A (p.Phe3653Tyr)
c.11111T>A (p.Phe3704Tyr)
c.10016T>A (p.Phe3339Tyr)
c.6200T>A (p.Phe2067Tyr)
c.5753T>A (p.Phe1918Tyr)
c.5090T>A (p.Phe1697Tyr)
c.9605T>A (p.Phe3202Tyr)
5g.13752160A>CCA359189732DNAH5c.11002T>G (p.Phe3668Val)
c.10957T>G (p.Phe3653Val)
c.11110T>G (p.Phe3704Val)
c.10015T>G (p.Phe3339Val)
c.6199T>G (p.Phe2067Val)
c.5752T>G (p.Phe1918Val)
c.5089T>G (p.Phe1697Val)
c.9604T>G (p.Phe3202Val)
5g.13752160A>GCA359189734DNAH5c.11002T>C (p.Phe3668Leu)
c.10957T>C (p.Phe3653Leu)
c.11110T>C (p.Phe3704Leu)
c.10015T>C (p.Phe3339Leu)
c.6199T>C (p.Phe2067Leu)
c.5752T>C (p.Phe1918Leu)
c.5089T>C (p.Phe1697Leu)
c.9604T>C (p.Phe3202Leu)
5g.13752160A>TCA359189737DNAH5c.11002T>A (p.Phe3668Ile)
c.10957T>A (p.Phe3653Ile)
c.11110T>A (p.Phe3704Ile)
c.10015T>A (p.Phe3339Ile)
c.6199T>A (p.Phe2067Ile)
c.5752T>A (p.Phe1918Ile)
c.5089T>A (p.Phe1697Ile)
c.9604T>A (p.Phe3202Ile)
5g.13752161G>ACA443248610DNAH5c.11001C>T (p.Asn3667=)
c.10956C>T (p.Asn3652=)
c.11109C>T (p.Asn3703=)
c.10014C>T (p.Asn3338=)
c.6198C>T (p.Asn2066=)
c.5751C>T (p.Asn1917=)
c.5088C>T (p.Asn1696=)
c.9603C>T (p.Asn3201=)
5g.13752161G>CCA359189740DNAH5c.11001C>G (p.Asn3667Lys)
c.10956C>G (p.Asn3652Lys)
c.11109C>G (p.Asn3703Lys)
c.10014C>G (p.Asn3338Lys)
c.6198C>G (p.Asn2066Lys)
c.5751C>G (p.Asn1917Lys)
c.5088C>G (p.Asn1696Lys)
c.9603C>G (p.Asn3201Lys)
5g.13752161G>TCA359189742DNAH5c.11001C>A (p.Asn3667Lys)
c.10956C>A (p.Asn3652Lys)
c.11109C>A (p.Asn3703Lys)
c.10014C>A (p.Asn3338Lys)
c.6198C>A (p.Asn2066Lys)
c.5751C>A (p.Asn1917Lys)
c.5088C>A (p.Asn1696Lys)
c.9603C>A (p.Asn3201Lys)
5g.13752162T>ACA359189744DNAH5c.11000A>T (p.Asn3667Ile)
c.10955A>T (p.Asn3652Ile)
c.11108A>T (p.Asn3703Ile)
c.10013A>T (p.Asn3338Ile)
c.6197A>T (p.Asn2066Ile)
c.5750A>T (p.Asn1917Ile)
c.5087A>T (p.Asn1696Ile)
c.9602A>T (p.Asn3201Ile)
5g.13752162T>CCA359189746DNAH5c.11000A>G (p.Asn3667Ser)
c.10955A>G (p.Asn3652Ser)
c.11108A>G (p.Asn3703Ser)
c.10013A>G (p.Asn3338Ser)
c.6197A>G (p.Asn2066Ser)
c.5750A>G (p.Asn1917Ser)
c.5087A>G (p.Asn1696Ser)
c.9602A>G (p.Asn3201Ser)
5g.13752162T>GCA359189748DNAH5c.11000A>C (p.Asn3667Thr)
c.10955A>C (p.Asn3652Thr)
c.11108A>C (p.Asn3703Thr)
c.10013A>C (p.Asn3338Thr)
c.6197A>C (p.Asn2066Thr)
c.5750A>C (p.Asn1917Thr)
c.5087A>C (p.Asn1696Thr)
c.9602A>C (p.Asn3201Thr)
5g.13752163T>ACA359189759DNAH5c.10999A>T (p.Asn3667Tyr)
c.10954A>T (p.Asn3652Tyr)
c.11107A>T (p.Asn3703Tyr)
c.10012A>T (p.Asn3338Tyr)
c.6196A>T (p.Asn2066Tyr)
c.5749A>T (p.Asn1917Tyr)
c.5086A>T (p.Asn1696Tyr)
c.9601A>T (p.Asn3201Tyr)
5g.13752163T>CCA359189758DNAH5c.10999A>G (p.Asn3667Asp)
c.10954A>G (p.Asn3652Asp)
c.11107A>G (p.Asn3703Asp)
c.10012A>G (p.Asn3338Asp)
c.6196A>G (p.Asn2066Asp)
c.5749A>G (p.Asn1917Asp)
c.5086A>G (p.Asn1696Asp)
c.9601A>G (p.Asn3201Asp)
5g.13752163T>GCA3202085DNAH5c.10999A>C (p.Asn3667His)
c.10954A>C (p.Asn3652His)
c.11107A>C (p.Asn3703His)
c.10012A>C (p.Asn3338His)
c.6196A>C (p.Asn2066His)
c.5749A>C (p.Asn1917His)
c.5086A>C (p.Asn1696His)
c.9601A>C (p.Asn3201His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752163T=CA1528422925DNAH5c.10999A= (p.Asn3667=)
c.10954A= (p.Asn3652=)
c.11107A= (p.Asn3703=)
c.10012A= (p.Asn3338=)
c.6196A= (p.Asn2066=)
c.5749A= (p.Asn1917=)
c.5086A= (p.Asn1696=)
c.9601A= (p.Asn3201=)
5g.13752164T>ACA359189762DNAH5c.10998A>T (p.Arg3666Ser)
c.10953A>T (p.Arg3651Ser)
c.11106A>T (p.Arg3702Ser)
c.10011A>T (p.Arg3337Ser)
c.6195A>T (p.Arg2065Ser)
c.5748A>T (p.Arg1916Ser)
c.5085A>T (p.Arg1695Ser)
c.9600A>T (p.Arg3200Ser)
5g.13752164T>CCA443248615DNAH5c.10998A>G (p.Arg3666=)
c.10953A>G (p.Arg3651=)
c.11106A>G (p.Arg3702=)
c.10011A>G (p.Arg3337=)
c.6195A>G (p.Arg2065=)
c.5748A>G (p.Arg1916=)
c.5085A>G (p.Arg1695=)
c.9600A>G (p.Arg3200=)
 ClinVar
5g.13752164T>GCA359189764DNAH5c.10998A>C (p.Arg3666Ser)
c.10953A>C (p.Arg3651Ser)
c.11106A>C (p.Arg3702Ser)
c.10011A>C (p.Arg3337Ser)
c.6195A>C (p.Arg2065Ser)
c.5748A>C (p.Arg1916Ser)
c.5085A>C (p.Arg1695Ser)
c.9600A>C (p.Arg3200Ser)
5g.13752164_13752165delinsATCA645541002DNAH5c.10997_10998delinsAT (p.Arg3666Asn)
c.10952_10953delinsAT (p.Arg3651Asn)
c.11105_11106delinsAT (p.Arg3702Asn)
c.10010_10011delinsAT (p.Arg3337Asn)
c.6194_6195delinsAT (p.Arg2065Asn)
c.5747_5748delinsAT (p.Arg1916Asn)
c.5084_5085delinsAT (p.Arg1695Asn)
c.9599_9600delinsAT (p.Arg3200Asn)
 COSMIC
5g.13752165C>ACA359189766DNAH5c.10997G>T (p.Arg3666Ile)
c.10952G>T (p.Arg3651Ile)
c.11105G>T (p.Arg3702Ile)
c.10010G>T (p.Arg3337Ile)
c.6194G>T (p.Arg2065Ile)
c.5747G>T (p.Arg1916Ile)
c.5084G>T (p.Arg1695Ile)
c.9599G>T (p.Arg3200Ile)
 dbSNP gnomAD v2 COSMIC
5g.13752165C=CA1528422926DNAH5c.10997G= (p.Arg3666=)
c.10952G= (p.Arg3651=)
c.11105G= (p.Arg3702=)
c.10010G= (p.Arg3337=)
c.6194G= (p.Arg2065=)
c.5747G= (p.Arg1916=)
c.5084G= (p.Arg1695=)
c.9599G= (p.Arg3200=)
5g.13752165C>GCA359189768DNAH5c.10997G>C (p.Arg3666Thr)
c.10952G>C (p.Arg3651Thr)
c.11105G>C (p.Arg3702Thr)
c.10010G>C (p.Arg3337Thr)
c.6194G>C (p.Arg2065Thr)
c.5747G>C (p.Arg1916Thr)
c.5084G>C (p.Arg1695Thr)
c.9599G>C (p.Arg3200Thr)
5g.13752165C>TCA359189771DNAH5c.10997G>A (p.Arg3666Lys)
c.10952G>A (p.Arg3651Lys)
c.11105G>A (p.Arg3702Lys)
c.10010G>A (p.Arg3337Lys)
c.6194G>A (p.Arg2065Lys)
c.5747G>A (p.Arg1916Lys)
c.5084G>A (p.Arg1695Lys)
c.9599G>A (p.Arg3200Lys)
5g.13752166T>ACA359189773DNAH5c.10996A>T (p.Arg3666Ter)
c.10951A>T (p.Arg3651Ter)
c.11104A>T (p.Arg3702Ter)
c.10009A>T (p.Arg3337Ter)
c.6193A>T (p.Arg2065Ter)
c.5746A>T (p.Arg1916Ter)
c.5083A>T (p.Arg1695Ter)
c.9598A>T (p.Arg3200Ter)
 ClinVar gnomAD v4
5g.13752166T>CCA359189776DNAH5c.10996A>G (p.Arg3666Gly)
c.10951A>G (p.Arg3651Gly)
c.11104A>G (p.Arg3702Gly)
c.10009A>G (p.Arg3337Gly)
c.6193A>G (p.Arg2065Gly)
c.5746A>G (p.Arg1916Gly)
c.5083A>G (p.Arg1695Gly)
c.9598A>G (p.Arg3200Gly)
5g.13752166T>GCA443248617DNAH5c.10996A>C (p.Arg3666=)
c.10951A>C (p.Arg3651=)
c.11104A>C (p.Arg3702=)
c.10009A>C (p.Arg3337=)
c.6193A>C (p.Arg2065=)
c.5746A>C (p.Arg1916=)
c.5083A>C (p.Arg1695=)
c.9598A>C (p.Arg3200=)
5g.13752167T>ACA359189780DNAH5c.10995A>T (p.Glu3665Asp)
c.10950A>T (p.Glu3650Asp)
c.11103A>T (p.Glu3701Asp)
c.10008A>T (p.Glu3336Asp)
c.6192A>T (p.Glu2064Asp)
c.5745A>T (p.Glu1915Asp)
c.5082A>T (p.Glu1694Asp)
c.9597A>T (p.Glu3199Asp)
5g.13752167T>CCA443248618DNAH5c.10995A>G (p.Glu3665=)
c.10950A>G (p.Glu3650=)
c.11103A>G (p.Glu3701=)
c.10008A>G (p.Glu3336=)
c.6192A>G (p.Glu2064=)
c.5745A>G (p.Glu1915=)
c.5082A>G (p.Glu1694=)
c.9597A>G (p.Glu3199=)
5g.13752167T>GCA359189782DNAH5c.10995A>C (p.Glu3665Asp)
c.10950A>C (p.Glu3650Asp)
c.11103A>C (p.Glu3701Asp)
c.10008A>C (p.Glu3336Asp)
c.6192A>C (p.Glu2064Asp)
c.5745A>C (p.Glu1915Asp)
c.5082A>C (p.Glu1694Asp)
c.9597A>C (p.Glu3199Asp)
5g.13752168T>ACA359189783DNAH5c.10994A>T (p.Glu3665Val)
c.10949A>T (p.Glu3650Val)
c.11102A>T (p.Glu3701Val)
c.10007A>T (p.Glu3336Val)
c.6191A>T (p.Glu2064Val)
c.5744A>T (p.Glu1915Val)
c.5081A>T (p.Glu1694Val)
c.9596A>T (p.Glu3199Val)
5g.13752168T>CCA359189785DNAH5c.10994A>G (p.Glu3665Gly)
c.10949A>G (p.Glu3650Gly)
c.11102A>G (p.Glu3701Gly)
c.10007A>G (p.Glu3336Gly)
c.6191A>G (p.Glu2064Gly)
c.5744A>G (p.Glu1915Gly)
c.5081A>G (p.Glu1694Gly)
c.9596A>G (p.Glu3199Gly)
5g.13752168T>GCA359189787DNAH5c.10994A>C (p.Glu3665Ala)
c.10949A>C (p.Glu3650Ala)
c.11102A>C (p.Glu3701Ala)
c.10007A>C (p.Glu3336Ala)
c.6191A>C (p.Glu2064Ala)
c.5744A>C (p.Glu1915Ala)
c.5081A>C (p.Glu1694Ala)
c.9596A>C (p.Glu3199Ala)
 gnomAD v4
5g.13752169C>ACA359189789DNAH5c.10993G>T (p.Glu3665Ter)
c.10948G>T (p.Glu3650Ter)
c.11101G>T (p.Glu3701Ter)
c.10006G>T (p.Glu3336Ter)
c.6190G>T (p.Glu2064Ter)
c.5743G>T (p.Glu1915Ter)
c.5080G>T (p.Glu1694Ter)
c.9595G>T (p.Glu3199Ter)
5g.13752169C>GCA359189792DNAH5c.10993G>C (p.Glu3665Gln)
c.10948G>C (p.Glu3650Gln)
c.11101G>C (p.Glu3701Gln)
c.10006G>C (p.Glu3336Gln)
c.6190G>C (p.Glu2064Gln)
c.5743G>C (p.Glu1915Gln)
c.5080G>C (p.Glu1694Gln)
c.9595G>C (p.Glu3199Gln)
5g.13752169C>TCA359189790DNAH5c.10993G>A (p.Glu3665Lys)
c.10948G>A (p.Glu3650Lys)
c.11101G>A (p.Glu3701Lys)
c.10006G>A (p.Glu3336Lys)
c.6190G>A (p.Glu2064Lys)
c.5743G>A (p.Glu1915Lys)
c.5080G>A (p.Glu1694Lys)
c.9595G>A (p.Glu3199Lys)
5g.13752170C>ACA359189795DNAH5c.10992G>T (p.Leu3664Phe)
c.10947G>T (p.Leu3649Phe)
c.11100G>T (p.Leu3700Phe)
c.10005G>T (p.Leu3335Phe)
c.6189G>T (p.Leu2063Phe)
c.5742G>T (p.Leu1914Phe)
c.5079G>T (p.Leu1693Phe)
c.9594G>T (p.Leu3198Phe)
5g.13752170C=CA1528422927DNAH5c.10992G= (p.Leu3664=)
c.10947G= (p.Leu3649=)
c.11100G= (p.Leu3700=)
c.10005G= (p.Leu3335=)
c.6189G= (p.Leu2063=)
c.5742G= (p.Leu1914=)
c.5079G= (p.Leu1693=)
c.9594G= (p.Leu3198=)
5g.13752170C>GCA359189798DNAH5c.10992G>C (p.Leu3664Phe)
c.10947G>C (p.Leu3649Phe)
c.11100G>C (p.Leu3700Phe)
c.10005G>C (p.Leu3335Phe)
c.6189G>C (p.Leu2063Phe)
c.5742G>C (p.Leu1914Phe)
c.5079G>C (p.Leu1693Phe)
c.9594G>C (p.Leu3198Phe)
5g.13752170C>TCA3202086DNAH5c.10992G>A (p.Leu3664=)
c.10947G>A (p.Leu3649=)
c.11100G>A (p.Leu3700=)
c.10005G>A (p.Leu3335=)
c.6189G>A (p.Leu2063=)
c.5742G>A (p.Leu1914=)
c.5079G>A (p.Leu1693=)
c.9594G>A (p.Leu3198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752171A>CCA359189799DNAH5c.10991T>G (p.Leu3664Trp)
c.10946T>G (p.Leu3649Trp)
c.11099T>G (p.Leu3700Trp)
c.10004T>G (p.Leu3335Trp)
c.6188T>G (p.Leu2063Trp)
c.5741T>G (p.Leu1914Trp)
c.5078T>G (p.Leu1693Trp)
c.9593T>G (p.Leu3198Trp)
5g.13752171A>GCA359189801DNAH5c.10991T>C (p.Leu3664Ser)
c.10946T>C (p.Leu3649Ser)
c.11099T>C (p.Leu3700Ser)
c.10004T>C (p.Leu3335Ser)
c.6188T>C (p.Leu2063Ser)
c.5741T>C (p.Leu1914Ser)
c.5078T>C (p.Leu1693Ser)
c.9593T>C (p.Leu3198Ser)
5g.13752171A>TCA359189803DNAH5c.10991T>A (p.Leu3664Ter)
c.10946T>A (p.Leu3649Ter)
c.11099T>A (p.Leu3700Ter)
c.10004T>A (p.Leu3335Ter)
c.6188T>A (p.Leu2063Ter)
c.5741T>A (p.Leu1914Ter)
c.5078T>A (p.Leu1693Ter)
c.9593T>A (p.Leu3198Ter)
5g.13752172A>CCA359189805DNAH5c.10990T>G (p.Leu3664Val)
c.10945T>G (p.Leu3649Val)
c.11098T>G (p.Leu3700Val)
c.10003T>G (p.Leu3335Val)
c.6187T>G (p.Leu2063Val)
c.5740T>G (p.Leu1914Val)
c.5077T>G (p.Leu1693Val)
c.9592T>G (p.Leu3198Val)
5g.13752172A>GCA443248624DNAH5c.10990T>C (p.Leu3664=)
c.10945T>C (p.Leu3649=)
c.11098T>C (p.Leu3700=)
c.10003T>C (p.Leu3335=)
c.6187T>C (p.Leu2063=)
c.5740T>C (p.Leu1914=)
c.5077T>C (p.Leu1693=)
c.9592T>C (p.Leu3198=)
5g.13752172A>TCA359189807DNAH5c.10990T>A (p.Leu3664Met)
c.10945T>A (p.Leu3649Met)
c.11098T>A (p.Leu3700Met)
c.10003T>A (p.Leu3335Met)
c.6187T>A (p.Leu2063Met)
c.5740T>A (p.Leu1914Met)
c.5077T>A (p.Leu1693Met)
c.9592T>A (p.Leu3198Met)
5g.13752173A>CCA443248626DNAH5c.10989T>G (p.Val3663=)
c.10944T>G (p.Val3648=)
c.11097T>G (p.Val3699=)
c.10002T>G (p.Val3334=)
c.6186T>G (p.Val2062=)
c.5739T>G (p.Val1913=)
c.5076T>G (p.Val1692=)
c.9591T>G (p.Val3197=)
5g.13752173A>GCA443248628DNAH5c.10989T>C (p.Val3663=)
c.10944T>C (p.Val3648=)
c.11097T>C (p.Val3699=)
c.10002T>C (p.Val3334=)
c.6186T>C (p.Val2062=)
c.5739T>C (p.Val1913=)
c.5076T>C (p.Val1692=)
c.9591T>C (p.Val3197=)
5g.13752173A>TCA443248630DNAH5c.10989T>A (p.Val3663=)
c.10944T>A (p.Val3648=)
c.11097T>A (p.Val3699=)
c.10002T>A (p.Val3334=)
c.6186T>A (p.Val2062=)
c.5739T>A (p.Val1913=)
c.5076T>A (p.Val1692=)
c.9591T>A (p.Val3197=)
5g.13752174A>CCA359189813DNAH5c.10988T>G (p.Val3663Gly)
c.10943T>G (p.Val3648Gly)
c.11096T>G (p.Val3699Gly)
c.10001T>G (p.Val3334Gly)
c.6185T>G (p.Val2062Gly)
c.5738T>G (p.Val1913Gly)
c.5075T>G (p.Val1692Gly)
c.9590T>G (p.Val3197Gly)
5g.13752174A>GCA359189815DNAH5c.10988T>C (p.Val3663Ala)
c.10943T>C (p.Val3648Ala)
c.11096T>C (p.Val3699Ala)
c.10001T>C (p.Val3334Ala)
c.6185T>C (p.Val2062Ala)
c.5738T>C (p.Val1913Ala)
c.5075T>C (p.Val1692Ala)
c.9590T>C (p.Val3197Ala)
5g.13752174A>TCA359189818DNAH5c.10988T>A (p.Val3663Asp)
c.10943T>A (p.Val3648Asp)
c.11096T>A (p.Val3699Asp)
c.10001T>A (p.Val3334Asp)
c.6185T>A (p.Val2062Asp)
c.5738T>A (p.Val1913Asp)
c.5075T>A (p.Val1692Asp)
c.9590T>A (p.Val3197Asp)
5g.13752175C>ACA359189822DNAH5c.10987G>T (p.Val3663Phe)
c.10942G>T (p.Val3648Phe)
c.11095G>T (p.Val3699Phe)
c.10000G>T (p.Val3334Phe)
c.6184G>T (p.Val2062Phe)
c.5737G>T (p.Val1913Phe)
c.5074G>T (p.Val1692Phe)
c.9589G>T (p.Val3197Phe)
5g.13752175C>GCA359189825DNAH5c.10987G>C (p.Val3663Leu)
c.10942G>C (p.Val3648Leu)
c.11095G>C (p.Val3699Leu)
c.10000G>C (p.Val3334Leu)
c.6184G>C (p.Val2062Leu)
c.5737G>C (p.Val1913Leu)
c.5074G>C (p.Val1692Leu)
c.9589G>C (p.Val3197Leu)
5g.13752175C>TCA359189827DNAH5c.10987G>A (p.Val3663Ile)
c.10942G>A (p.Val3648Ile)
c.11095G>A (p.Val3699Ile)
c.10000G>A (p.Val3334Ile)
c.6184G>A (p.Val2062Ile)
c.5737G>A (p.Val1913Ile)
c.5074G>A (p.Val1692Ile)
c.9589G>A (p.Val3197Ile)
 gnomAD v4
5g.13752176A=CA1528422928DNAH5c.10986T= (p.Asn3662=)
c.10941T= (p.Asn3647=)
c.11094T= (p.Asn3698=)
c.9999T= (p.Asn3333=)
c.6183T= (p.Asn2061=)
c.5736T= (p.Asn1912=)
c.5073T= (p.Asn1691=)
c.9588T= (p.Asn3196=)
5g.13752176A>CCA359189834DNAH5c.10986T>G (p.Asn3662Lys)
c.10941T>G (p.Asn3647Lys)
c.11094T>G (p.Asn3698Lys)
c.9999T>G (p.Asn3333Lys)
c.6183T>G (p.Asn2061Lys)
c.5736T>G (p.Asn1912Lys)
c.5073T>G (p.Asn1691Lys)
c.9588T>G (p.Asn3196Lys)
5g.13752176A>GCA443248633DNAH5c.10986T>C (p.Asn3662=)
c.10941T>C (p.Asn3647=)
c.11094T>C (p.Asn3698=)
c.9999T>C (p.Asn3333=)
c.6183T>C (p.Asn2061=)
c.5736T>C (p.Asn1912=)
c.5073T>C (p.Asn1691=)
c.9588T>C (p.Asn3196=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13752176A>TCA359189831DNAH5c.10986T>A (p.Asn3662Lys)
c.10941T>A (p.Asn3647Lys)
c.11094T>A (p.Asn3698Lys)
c.9999T>A (p.Asn3333Lys)
c.6183T>A (p.Asn2061Lys)
c.5736T>A (p.Asn1912Lys)
c.5073T>A (p.Asn1691Lys)
c.9588T>A (p.Asn3196Lys)
5g.13752177T>ACA359189836DNAH5c.10985A>T (p.Asn3662Ile)
c.10940A>T (p.Asn3647Ile)
c.11093A>T (p.Asn3698Ile)
c.9998A>T (p.Asn3333Ile)
c.6182A>T (p.Asn2061Ile)
c.5735A>T (p.Asn1912Ile)
c.5072A>T (p.Asn1691Ile)
c.9587A>T (p.Asn3196Ile)
5g.13752177T>CCA359189866DNAH5c.10985A>G (p.Asn3662Ser)
c.10940A>G (p.Asn3647Ser)
c.11093A>G (p.Asn3698Ser)
c.9998A>G (p.Asn3333Ser)
c.6182A>G (p.Asn2061Ser)
c.5735A>G (p.Asn1912Ser)
c.5072A>G (p.Asn1691Ser)
c.9587A>G (p.Asn3196Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.13752177T>GCA359189869DNAH5c.10985A>C (p.Asn3662Thr)
c.10940A>C (p.Asn3647Thr)
c.11093A>C (p.Asn3698Thr)
c.9998A>C (p.Asn3333Thr)
c.6182A>C (p.Asn2061Thr)
c.5735A>C (p.Asn1912Thr)
c.5072A>C (p.Asn1691Thr)
c.9587A>C (p.Asn3196Thr)
5g.13752177T=CA1528422929DNAH5c.10985A= (p.Asn3662=)
c.10940A= (p.Asn3647=)
c.11093A= (p.Asn3698=)
c.9998A= (p.Asn3333=)
c.6182A= (p.Asn2061=)
c.5735A= (p.Asn1912=)
c.5072A= (p.Asn1691=)
c.9587A= (p.Asn3196=)
5g.13752178T>ACA359189872DNAH5c.10984A>T (p.Asn3662Tyr)
c.10939A>T (p.Asn3647Tyr)
c.11092A>T (p.Asn3698Tyr)
c.9997A>T (p.Asn3333Tyr)
c.6181A>T (p.Asn2061Tyr)
c.5734A>T (p.Asn1912Tyr)
c.5071A>T (p.Asn1691Tyr)
c.9586A>T (p.Asn3196Tyr)
5g.13752178T>CCA359189873DNAH5c.10984A>G (p.Asn3662Asp)
c.10939A>G (p.Asn3647Asp)
c.11092A>G (p.Asn3698Asp)
c.9997A>G (p.Asn3333Asp)
c.6181A>G (p.Asn2061Asp)
c.5734A>G (p.Asn1912Asp)
c.5071A>G (p.Asn1691Asp)
c.9586A>G (p.Asn3196Asp)
 dbSNP gnomAD v4
5g.13752178T>GCA359189876DNAH5c.10984A>C (p.Asn3662His)
c.10939A>C (p.Asn3647His)
c.11092A>C (p.Asn3698His)
c.9997A>C (p.Asn3333His)
c.6181A>C (p.Asn2061His)
c.5734A>C (p.Asn1912His)
c.5071A>C (p.Asn1691His)
c.9586A>C (p.Asn3196His)
5g.13752178T=CA1528422930DNAH5c.10984A= (p.Asn3662=)
c.10939A= (p.Asn3647=)
c.11092A= (p.Asn3698=)
c.9997A= (p.Asn3333=)
c.6181A= (p.Asn2061=)
c.5734A= (p.Asn1912=)
c.5071A= (p.Asn1691=)
c.9586A= (p.Asn3196=)
5g.13752179A=CA1528422931DNAH5c.10983T= (p.Asp3661=)
c.10938T= (p.Asp3646=)
c.11091T= (p.Asp3697=)
c.9996T= (p.Asp3332=)
c.6180T= (p.Asp2060=)
c.5733T= (p.Asp1911=)
c.5070T= (p.Asp1690=)
c.9585T= (p.Asp3195=)
5g.13752179A>CCA359189880DNAH5c.10983T>G (p.Asp3661Glu)
c.10938T>G (p.Asp3646Glu)
c.11091T>G (p.Asp3697Glu)
c.9996T>G (p.Asp3332Glu)
c.6180T>G (p.Asp2060Glu)
c.5733T>G (p.Asp1911Glu)
c.5070T>G (p.Asp1690Glu)
c.9585T>G (p.Asp3195Glu)
5g.13752179A>GCA443248635DNAH5c.10983T>C (p.Asp3661=)
c.10938T>C (p.Asp3646=)
c.11091T>C (p.Asp3697=)
c.9996T>C (p.Asp3332=)
c.6180T>C (p.Asp2060=)
c.5733T>C (p.Asp1911=)
c.5070T>C (p.Asp1690=)
c.9585T>C (p.Asp3195=)
 ClinVar dbSNP gnomAD v4
5g.13752179A>TCA10622655DNAH5c.10983T>A (p.Asp3661Glu)
c.10938T>A (p.Asp3646Glu)
c.11091T>A (p.Asp3697Glu)
c.9996T>A (p.Asp3332Glu)
c.6180T>A (p.Asp2060Glu)
c.5733T>A (p.Asp1911Glu)
c.5070T>A (p.Asp1690Glu)
c.9585T>A (p.Asp3195Glu)
 ClinVar dbSNP gnomAD v4
5g.13752180T>ACA359189887DNAH5c.10982A>T (p.Asp3661Val)
c.10937A>T (p.Asp3646Val)
c.11090A>T (p.Asp3697Val)
c.9995A>T (p.Asp3332Val)
c.6179A>T (p.Asp2060Val)
c.5732A>T (p.Asp1911Val)
c.5069A>T (p.Asp1690Val)
c.9584A>T (p.Asp3195Val)
5g.13752180T>CCA359189890DNAH5c.10982A>G (p.Asp3661Gly)
c.10937A>G (p.Asp3646Gly)
c.11090A>G (p.Asp3697Gly)
c.9995A>G (p.Asp3332Gly)
c.6179A>G (p.Asp2060Gly)
c.5732A>G (p.Asp1911Gly)
c.5069A>G (p.Asp1690Gly)
c.9584A>G (p.Asp3195Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752180T>GCA359189893DNAH5c.10982A>C (p.Asp3661Ala)
c.10937A>C (p.Asp3646Ala)
c.11090A>C (p.Asp3697Ala)
c.9995A>C (p.Asp3332Ala)
c.6179A>C (p.Asp2060Ala)
c.5732A>C (p.Asp1911Ala)
c.5069A>C (p.Asp1690Ala)
c.9584A>C (p.Asp3195Ala)
5g.13752180T=CA1528422932DNAH5c.10982A= (p.Asp3661=)
c.10937A= (p.Asp3646=)
c.11090A= (p.Asp3697=)
c.9995A= (p.Asp3332=)
c.6179A= (p.Asp2060=)
c.5732A= (p.Asp1911=)
c.5069A= (p.Asp1690=)
c.9584A= (p.Asp3195=)
5g.13752181C>ACA359189899DNAH5c.10981G>T (p.Asp3661Tyr)
c.10936G>T (p.Asp3646Tyr)
c.11089G>T (p.Asp3697Tyr)
c.9994G>T (p.Asp3332Tyr)
c.6178G>T (p.Asp2060Tyr)
c.5731G>T (p.Asp1911Tyr)
c.5068G>T (p.Asp1690Tyr)
c.9583G>T (p.Asp3195Tyr)
5g.13752181C=CA1528422933DNAH5c.10981G= (p.Asp3661=)
c.10936G= (p.Asp3646=)
c.11089G= (p.Asp3697=)
c.9994G= (p.Asp3332=)
c.6178G= (p.Asp2060=)
c.5731G= (p.Asp1911=)
c.5068G= (p.Asp1690=)
c.9583G= (p.Asp3195=)
5g.13752181C>GCA359189901DNAH5c.10981G>C (p.Asp3661His)
c.10936G>C (p.Asp3646His)
c.11089G>C (p.Asp3697His)
c.9994G>C (p.Asp3332His)
c.6178G>C (p.Asp2060His)
c.5731G>C (p.Asp1911His)
c.5068G>C (p.Asp1690His)
c.9583G>C (p.Asp3195His)
 COSMIC
5g.13752181C>TCA359189896DNAH5c.10981G>A (p.Asp3661Asn)
c.10936G>A (p.Asp3646Asn)
c.11089G>A (p.Asp3697Asn)
c.9994G>A (p.Asp3332Asn)
c.6178G>A (p.Asp2060Asn)
c.5731G>A (p.Asp1911Asn)
c.5068G>A (p.Asp1690Asn)
c.9583G>A (p.Asp3195Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.13752182T>ACA443248636DNAH5c.10980A>T (p.Leu3660=)
c.10935A>T (p.Leu3645=)
c.11088A>T (p.Leu3696=)
c.9993A>T (p.Leu3331=)
c.6177A>T (p.Leu2059=)
c.5730A>T (p.Leu1910=)
c.5067A>T (p.Leu1689=)
c.9582A>T (p.Leu3194=)
5g.13752182T>CCA443248637DNAH5c.10980A>G (p.Leu3660=)
c.10935A>G (p.Leu3645=)
c.11088A>G (p.Leu3696=)
c.9993A>G (p.Leu3331=)
c.6177A>G (p.Leu2059=)
c.5730A>G (p.Leu1910=)
c.5067A>G (p.Leu1689=)
c.9582A>G (p.Leu3194=)
5g.13752182T>GCA443248638DNAH5c.10980A>C (p.Leu3660=)
c.10935A>C (p.Leu3645=)
c.11088A>C (p.Leu3696=)
c.9993A>C (p.Leu3331=)
c.6177A>C (p.Leu2059=)
c.5730A>C (p.Leu1910=)
c.5067A>C (p.Leu1689=)
c.9582A>C (p.Leu3194=)
5g.13752183A>CCA359189902DNAH5c.10979T>G (p.Leu3660Arg)
c.10934T>G (p.Leu3645Arg)
c.11087T>G (p.Leu3696Arg)
c.9992T>G (p.Leu3331Arg)
c.6176T>G (p.Leu2059Arg)
c.5729T>G (p.Leu1910Arg)
c.5066T>G (p.Leu1689Arg)
c.9581T>G (p.Leu3194Arg)
5g.13752183A>GCA359189903DNAH5c.10979T>C (p.Leu3660Pro)
c.10934T>C (p.Leu3645Pro)
c.11087T>C (p.Leu3696Pro)
c.9992T>C (p.Leu3331Pro)
c.6176T>C (p.Leu2059Pro)
c.5729T>C (p.Leu1910Pro)
c.5066T>C (p.Leu1689Pro)
c.9581T>C (p.Leu3194Pro)
5g.13752183A>TCA359189906DNAH5c.10979T>A (p.Leu3660Gln)
c.10934T>A (p.Leu3645Gln)
c.11087T>A (p.Leu3696Gln)
c.9992T>A (p.Leu3331Gln)
c.6176T>A (p.Leu2059Gln)
c.5729T>A (p.Leu1910Gln)
c.5066T>A (p.Leu1689Gln)
c.9581T>A (p.Leu3194Gln)
5g.13752184G>ACA443248640DNAH5c.10978C>T (p.Leu3660=)
c.10933C>T (p.Leu3645=)
c.11086C>T (p.Leu3696=)
c.9991C>T (p.Leu3331=)
c.6175C>T (p.Leu2059=)
c.5728C>T (p.Leu1910=)
c.5065C>T (p.Leu1689=)
c.9580C>T (p.Leu3194=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13752184G>CCA359189909DNAH5c.10978C>G (p.Leu3660Val)
c.10933C>G (p.Leu3645Val)
c.11086C>G (p.Leu3696Val)
c.9991C>G (p.Leu3331Val)
c.6175C>G (p.Leu2059Val)
c.5728C>G (p.Leu1910Val)
c.5065C>G (p.Leu1689Val)
c.9580C>G (p.Leu3194Val)
5g.13752184G=CA1528422934DNAH5c.10978C= (p.Leu3660=)
c.10933C= (p.Leu3645=)
c.11086C= (p.Leu3696=)
c.9991C= (p.Leu3331=)
c.6175C= (p.Leu2059=)
c.5728C= (p.Leu1910=)
c.5065C= (p.Leu1689=)
c.9580C= (p.Leu3194=)
5g.13752184G>TCA359189912DNAH5c.10978C>A (p.Leu3660Ile)
c.10933C>A (p.Leu3645Ile)
c.11086C>A (p.Leu3696Ile)
c.9991C>A (p.Leu3331Ile)
c.6175C>A (p.Leu2059Ile)
c.5728C>A (p.Leu1910Ile)
c.5065C>A (p.Leu1689Ile)
c.9580C>A (p.Leu3194Ile)
5g.13752185T>ACA443248641DNAH5c.10977A>T (p.Ala3659=)
c.10932A>T (p.Ala3644=)
c.11085A>T (p.Ala3695=)
c.9990A>T (p.Ala3330=)
c.6174A>T (p.Ala2058=)
c.5727A>T (p.Ala1909=)
c.5064A>T (p.Ala1688=)
c.9579A>T (p.Ala3193=)
5g.13752185T>CCA443248643DNAH5c.10977A>G (p.Ala3659=)
c.10932A>G (p.Ala3644=)
c.11085A>G (p.Ala3695=)
c.9990A>G (p.Ala3330=)
c.6174A>G (p.Ala2058=)
c.5727A>G (p.Ala1909=)
c.5064A>G (p.Ala1688=)
c.9579A>G (p.Ala3193=)
 ClinVar dbSNP gnomAD v4
5g.13752185T>GCA443248644DNAH5c.10977A>C (p.Ala3659=)
c.10932A>C (p.Ala3644=)
c.11085A>C (p.Ala3695=)
c.9990A>C (p.Ala3330=)
c.6174A>C (p.Ala2058=)
c.5727A>C (p.Ala1909=)
c.5064A>C (p.Ala1688=)
c.9579A>C (p.Ala3193=)
5g.13752186G>ACA359189916DNAH5c.10976C>T (p.Ala3659Val)
c.10931C>T (p.Ala3644Val)
c.11084C>T (p.Ala3695Val)
c.9989C>T (p.Ala3330Val)
c.6173C>T (p.Ala2058Val)
c.5726C>T (p.Ala1909Val)
c.5063C>T (p.Ala1688Val)
c.9578C>T (p.Ala3193Val)
5g.13752186G>CCA359189919DNAH5c.10976C>G (p.Ala3659Gly)
c.10931C>G (p.Ala3644Gly)
c.11084C>G (p.Ala3695Gly)
c.9989C>G (p.Ala3330Gly)
c.6173C>G (p.Ala2058Gly)
c.5726C>G (p.Ala1909Gly)
c.5063C>G (p.Ala1688Gly)
c.9578C>G (p.Ala3193Gly)
5g.13752186G=CA1528422935DNAH5c.10976C= (p.Ala3659=)
c.10931C= (p.Ala3644=)
c.11084C= (p.Ala3695=)
c.9989C= (p.Ala3330=)
c.6173C= (p.Ala2058=)
c.5726C= (p.Ala1909=)
c.5063C= (p.Ala1688=)
c.9578C= (p.Ala3193=)
5g.13752186G>TCA113917711DNAH5c.10976C>A (p.Ala3659Glu)
c.10931C>A (p.Ala3644Glu)
c.11084C>A (p.Ala3695Glu)
c.9989C>A (p.Ala3330Glu)
c.6173C>A (p.Ala2058Glu)
c.5726C>A (p.Ala1909Glu)
c.5063C>A (p.Ala1688Glu)
c.9578C>A (p.Ala3193Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.13752187C>ACA359189935DNAH5c.10975G>T (p.Ala3659Ser)
c.10930G>T (p.Ala3644Ser)
c.11083G>T (p.Ala3695Ser)
c.9988G>T (p.Ala3330Ser)
c.6172G>T (p.Ala2058Ser)
c.5725G>T (p.Ala1909Ser)
c.5062G>T (p.Ala1688Ser)
c.9577G>T (p.Ala3193Ser)
5g.13752187C>GCA359189942DNAH5c.10975G>C (p.Ala3659Pro)
c.10930G>C (p.Ala3644Pro)
c.11083G>C (p.Ala3695Pro)
c.9988G>C (p.Ala3330Pro)
c.6172G>C (p.Ala2058Pro)
c.5725G>C (p.Ala1909Pro)
c.5062G>C (p.Ala1688Pro)
c.9577G>C (p.Ala3193Pro)
5g.13752187C>TCA359189944DNAH5c.10975G>A (p.Ala3659Thr)
c.10930G>A (p.Ala3644Thr)
c.11083G>A (p.Ala3695Thr)
c.9988G>A (p.Ala3330Thr)
c.6172G>A (p.Ala2058Thr)
c.5725G>A (p.Ala1909Thr)
c.5062G>A (p.Ala1688Thr)
c.9577G>A (p.Ala3193Thr)
5g.13752188T>ACA443248646DNAH5c.10974A>T (p.Pro3658=)
c.10929A>T (p.Pro3643=)
c.11082A>T (p.Pro3694=)
c.9987A>T (p.Pro3329=)
c.6171A>T (p.Pro2057=)
c.5724A>T (p.Pro1908=)
c.5061A>T (p.Pro1687=)
c.9576A>T (p.Pro3192=)
5g.13752188T>CCA3202087DNAH5c.10974A>G (p.Pro3658=)
c.10929A>G (p.Pro3643=)
c.11082A>G (p.Pro3694=)
c.9987A>G (p.Pro3329=)
c.6171A>G (p.Pro2057=)
c.5724A>G (p.Pro1908=)
c.5061A>G (p.Pro1687=)
c.9576A>G (p.Pro3192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752188T>GCA443248648DNAH5c.10974A>C (p.Pro3658=)
c.10929A>C (p.Pro3643=)
c.11082A>C (p.Pro3694=)
c.9987A>C (p.Pro3329=)
c.6171A>C (p.Pro2057=)
c.5724A>C (p.Pro1908=)
c.5061A>C (p.Pro1687=)
c.9576A>C (p.Pro3192=)
5g.13752188T=CA1528422936DNAH5c.10974A= (p.Pro3658=)
c.10929A= (p.Pro3643=)
c.11082A= (p.Pro3694=)
c.9987A= (p.Pro3329=)
c.6171A= (p.Pro2057=)
c.5724A= (p.Pro1908=)
c.5061A= (p.Pro1687=)
c.9576A= (p.Pro3192=)
5g.13752189G>ACA359189953DNAH5c.10973C>T (p.Pro3658Leu)
c.10928C>T (p.Pro3643Leu)
c.11081C>T (p.Pro3694Leu)
c.9986C>T (p.Pro3329Leu)
c.6170C>T (p.Pro2057Leu)
c.5723C>T (p.Pro1908Leu)
c.5060C>T (p.Pro1687Leu)
c.9575C>T (p.Pro3192Leu)
 ClinVar
5g.13752189G>CCA359189949DNAH5c.10973C>G (p.Pro3658Arg)
c.10928C>G (p.Pro3643Arg)
c.11081C>G (p.Pro3694Arg)
c.9986C>G (p.Pro3329Arg)
c.6170C>G (p.Pro2057Arg)
c.5723C>G (p.Pro1908Arg)
c.5060C>G (p.Pro1687Arg)
c.9575C>G (p.Pro3192Arg)
 gnomAD v4
5g.13752189G>TCA359189951DNAH5c.10973C>A (p.Pro3658Gln)
c.10928C>A (p.Pro3643Gln)
c.11081C>A (p.Pro3694Gln)
c.9986C>A (p.Pro3329Gln)
c.6170C>A (p.Pro2057Gln)
c.5723C>A (p.Pro1908Gln)
c.5060C>A (p.Pro1687Gln)
c.9575C>A (p.Pro3192Gln)
5g.13752190G>ACA359189956DNAH5c.10972C>T (p.Pro3658Ser)
c.10927C>T (p.Pro3643Ser)
c.11080C>T (p.Pro3694Ser)
c.9985C>T (p.Pro3329Ser)
c.6169C>T (p.Pro2057Ser)
c.5722C>T (p.Pro1908Ser)
c.5059C>T (p.Pro1687Ser)
c.9574C>T (p.Pro3192Ser)
5g.13752190G>CCA113917715DNAH5c.10972C>G (p.Pro3658Ala)
c.10927C>G (p.Pro3643Ala)
c.11080C>G (p.Pro3694Ala)
c.9985C>G (p.Pro3329Ala)
c.6169C>G (p.Pro2057Ala)
c.5722C>G (p.Pro1908Ala)
c.5059C>G (p.Pro1687Ala)
c.9574C>G (p.Pro3192Ala)
 dbSNP
5g.13752190G=CA1528422937DNAH5c.10972C= (p.Pro3658=)
c.10927C= (p.Pro3643=)
c.11080C= (p.Pro3694=)
c.9985C= (p.Pro3329=)
c.6169C= (p.Pro2057=)
c.5722C= (p.Pro1908=)
c.5059C= (p.Pro1687=)
c.9574C= (p.Pro3192=)
5g.13752190G>TCA359189959DNAH5c.10972C>A (p.Pro3658Thr)
c.10927C>A (p.Pro3643Thr)
c.11080C>A (p.Pro3694Thr)
c.9985C>A (p.Pro3329Thr)
c.6169C>A (p.Pro2057Thr)
c.5722C>A (p.Pro1908Thr)
c.5059C>A (p.Pro1687Thr)
c.9574C>A (p.Pro3192Thr)
5g.13752191A>CCA359189963DNAH5c.10971T>G (p.Asp3657Glu)
c.10926T>G (p.Asp3642Glu)
c.11079T>G (p.Asp3693Glu)
c.9984T>G (p.Asp3328Glu)
c.6168T>G (p.Asp2056Glu)
c.5721T>G (p.Asp1907Glu)
c.5058T>G (p.Asp1686Glu)
c.9573T>G (p.Asp3191Glu)
5g.13752191A>GCA443248650DNAH5c.10971T>C (p.Asp3657=)
c.10926T>C (p.Asp3642=)
c.11079T>C (p.Asp3693=)
c.9984T>C (p.Asp3328=)
c.6168T>C (p.Asp2056=)
c.5721T>C (p.Asp1907=)
c.5058T>C (p.Asp1686=)
c.9573T>C (p.Asp3191=)
5g.13752191A>TCA359189965DNAH5c.10971T>A (p.Asp3657Glu)
c.10926T>A (p.Asp3642Glu)
c.11079T>A (p.Asp3693Glu)
c.9984T>A (p.Asp3328Glu)
c.6168T>A (p.Asp2056Glu)
c.5721T>A (p.Asp1907Glu)
c.5058T>A (p.Asp1686Glu)
c.9573T>A (p.Asp3191Glu)
5g.13752192T>ACA359189968DNAH5c.10970A>T (p.Asp3657Val)
c.10925A>T (p.Asp3642Val)
c.11078A>T (p.Asp3693Val)
c.9983A>T (p.Asp3328Val)
c.6167A>T (p.Asp2056Val)
c.5720A>T (p.Asp1907Val)
c.5057A>T (p.Asp1686Val)
c.9572A>T (p.Asp3191Val)
5g.13752192T>CCA359189971DNAH5c.10970A>G (p.Asp3657Gly)
c.10925A>G (p.Asp3642Gly)
c.11078A>G (p.Asp3693Gly)
c.9983A>G (p.Asp3328Gly)
c.6167A>G (p.Asp2056Gly)
c.5720A>G (p.Asp1907Gly)
c.5057A>G (p.Asp1686Gly)
c.9572A>G (p.Asp3191Gly)
5g.13752192T>GCA359189974DNAH5c.10970A>C (p.Asp3657Ala)
c.10925A>C (p.Asp3642Ala)
c.11078A>C (p.Asp3693Ala)
c.9983A>C (p.Asp3328Ala)
c.6167A>C (p.Asp2056Ala)
c.5720A>C (p.Asp1907Ala)
c.5057A>C (p.Asp1686Ala)
c.9572A>C (p.Asp3191Ala)
5g.13752193C>ACA359189976DNAH5c.10969G>T (p.Asp3657Tyr)
c.10924G>T (p.Asp3642Tyr)
c.11077G>T (p.Asp3693Tyr)
c.9982G>T (p.Asp3328Tyr)
c.6166G>T (p.Asp2056Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5056G>T (p.Asp1686Tyr)
c.9571G>T (p.Asp3191Tyr)
5g.13752193C>GCA359189978DNAH5c.10969G>C (p.Asp3657His)
c.10924G>C (p.Asp3642His)
c.11077G>C (p.Asp3693His)
c.9982G>C (p.Asp3328His)
c.6166G>C (p.Asp2056His)
c.5719G>C (p.Asp1907His)
c.5056G>C (p.Asp1686His)
c.9571G>C (p.Asp3191His)
5g.13752193C>TCA359189980DNAH5c.10969G>A (p.Asp3657Asn)
c.10924G>A (p.Asp3642Asn)
c.11077G>A (p.Asp3693Asn)
c.9982G>A (p.Asp3328Asn)
c.6166G>A (p.Asp2056Asn)
c.5719G>A (p.Asp1907Asn)
c.5056G>A (p.Asp1686Asn)
c.9571G>A (p.Asp3191Asn)
5g.13752194T>ACA443248655DNAH5c.10968A>T (p.Leu3656=)
c.10923A>T (p.Leu3641=)
c.11076A>T (p.Leu3692=)
c.9981A>T (p.Leu3327=)
c.6165A>T (p.Leu2055=)
c.5718A>T (p.Leu1906=)
c.5055A>T (p.Leu1685=)
c.9570A>T (p.Leu3190=)
 gnomAD v4
5g.13752194T>CCA3202088DNAH5c.10968A>G (p.Leu3656=)
c.10923A>G (p.Leu3641=)
c.11076A>G (p.Leu3692=)
c.9981A>G (p.Leu3327=)
c.6165A>G (p.Leu2055=)
c.5718A>G (p.Leu1906=)
c.5055A>G (p.Leu1685=)
c.9570A>G (p.Leu3190=)
 dbSNP ExAC gnomAD v4
5g.13752194T>GCA443248658DNAH5c.10968A>C (p.Leu3656=)
c.10923A>C (p.Leu3641=)
c.11076A>C (p.Leu3692=)
c.9981A>C (p.Leu3327=)
c.6165A>C (p.Leu2055=)
c.5718A>C (p.Leu1906=)
c.5055A>C (p.Leu1685=)
c.9570A>C (p.Leu3190=)
5g.13752194T=CA1528422938DNAH5c.10968A= (p.Leu3656=)
c.10923A= (p.Leu3641=)
c.11076A= (p.Leu3692=)
c.9981A= (p.Leu3327=)
c.6165A= (p.Leu2055=)
c.5718A= (p.Leu1906=)
c.5055A= (p.Leu1685=)
c.9570A= (p.Leu3190=)
5g.13752195A>CCA359189988DNAH5c.10967T>G (p.Leu3656Arg)
c.10922T>G (p.Leu3641Arg)
c.11075T>G (p.Leu3692Arg)
c.9980T>G (p.Leu3327Arg)
c.6164T>G (p.Leu2055Arg)
c.5717T>G (p.Leu1906Arg)
c.5054T>G (p.Leu1685Arg)
c.9569T>G (p.Leu3190Arg)
5g.13752195A>GCA359189986DNAH5c.10967T>C (p.Leu3656Pro)
c.10922T>C (p.Leu3641Pro)
c.11075T>C (p.Leu3692Pro)
c.9980T>C (p.Leu3327Pro)
c.6164T>C (p.Leu2055Pro)
c.5717T>C (p.Leu1906Pro)
c.5054T>C (p.Leu1685Pro)
c.9569T>C (p.Leu3190Pro)
5g.13752195A>TCA359189983DNAH5c.10967T>A (p.Leu3656Gln)
c.10922T>A (p.Leu3641Gln)
c.11075T>A (p.Leu3692Gln)
c.9980T>A (p.Leu3327Gln)
c.6164T>A (p.Leu2055Gln)
c.5717T>A (p.Leu1906Gln)
c.5054T>A (p.Leu1685Gln)
c.9569T>A (p.Leu3190Gln)
5g.13752196G>ACA443248662DNAH5c.10966C>T (p.Leu3656=)
c.10921C>T (p.Leu3641=)
c.11074C>T (p.Leu3692=)
c.9979C>T (p.Leu3327=)
c.6163C>T (p.Leu2055=)
c.5716C>T (p.Leu1906=)
c.5053C>T (p.Leu1685=)
c.9568C>T (p.Leu3190=)
5g.13752196G>CCA359189991DNAH5c.10966C>G (p.Leu3656Val)
c.10921C>G (p.Leu3641Val)
c.11074C>G (p.Leu3692Val)
c.9979C>G (p.Leu3327Val)
c.6163C>G (p.Leu2055Val)
c.5716C>G (p.Leu1906Val)
c.5053C>G (p.Leu1685Val)
c.9568C>G (p.Leu3190Val)
5g.13752196G>TCA359189994DNAH5c.10966C>A (p.Leu3656Ile)
c.10921C>A (p.Leu3641Ile)
c.11074C>A (p.Leu3692Ile)
c.9979C>A (p.Leu3327Ile)
c.6163C>A (p.Leu2055Ile)
c.5716C>A (p.Leu1906Ile)
c.5053C>A (p.Leu1685Ile)
c.9568C>A (p.Leu3190Ile)
5g.13752197T>ACA359189997DNAH5c.10965A>T (p.Glu3655Asp)
c.10920A>T (p.Glu3640Asp)
c.11073A>T (p.Glu3691Asp)
c.9978A>T (p.Glu3326Asp)
c.6162A>T (p.Glu2054Asp)
c.5715A>T (p.Glu1905Asp)
c.5052A>T (p.Glu1684Asp)
c.9567A>T (p.Glu3189Asp)
5g.13752197T>CCA443248666DNAH5c.10965A>G (p.Glu3655=)
c.10920A>G (p.Glu3640=)
c.11073A>G (p.Glu3691=)
c.9978A>G (p.Glu3326=)
c.6162A>G (p.Glu2054=)
c.5715A>G (p.Glu1905=)
c.5052A>G (p.Glu1684=)
c.9567A>G (p.Glu3189=)
 gnomAD v4
5g.13752197T>GCA359189999DNAH5c.10965A>C (p.Glu3655Asp)
c.10920A>C (p.Glu3640Asp)
c.11073A>C (p.Glu3691Asp)
c.9978A>C (p.Glu3326Asp)
c.6162A>C (p.Glu2054Asp)
c.5715A>C (p.Glu1905Asp)
c.5052A>C (p.Glu1684Asp)
c.9567A>C (p.Glu3189Asp)
5g.13752198T>ACA359190002DNAH5c.10964A>T (p.Glu3655Val)
c.10919A>T (p.Glu3640Val)
c.11072A>T (p.Glu3691Val)
c.9977A>T (p.Glu3326Val)
c.6161A>T (p.Glu2054Val)
c.5714A>T (p.Glu1905Val)
c.5051A>T (p.Glu1684Val)
c.9566A>T (p.Glu3189Val)
5g.13752198T>CCA359190005DNAH5c.10964A>G (p.Glu3655Gly)
c.10919A>G (p.Glu3640Gly)
c.11072A>G (p.Glu3691Gly)
c.9977A>G (p.Glu3326Gly)
c.6161A>G (p.Glu2054Gly)
c.5714A>G (p.Glu1905Gly)
c.5051A>G (p.Glu1684Gly)
c.9566A>G (p.Glu3189Gly)
5g.13752198T>GCA359190007DNAH5c.10964A>C (p.Glu3655Ala)
c.10919A>C (p.Glu3640Ala)
c.11072A>C (p.Glu3691Ala)
c.9977A>C (p.Glu3326Ala)
c.6161A>C (p.Glu2054Ala)
c.5714A>C (p.Glu1905Ala)
c.5051A>C (p.Glu1684Ala)
c.9566A>C (p.Glu3189Ala)
5g.13752199C>ACA359190011DNAH5c.10963G>T (p.Glu3655Ter)
c.10918G>T (p.Glu3640Ter)
c.11071G>T (p.Glu3691Ter)
c.9976G>T (p.Glu3326Ter)
c.6160G>T (p.Glu2054Ter)
c.5713G>T (p.Glu1905Ter)
c.5050G>T (p.Glu1684Ter)
c.9565G>T (p.Glu3189Ter)
 ClinVar
5g.13752199C>GCA359190014DNAH5c.10963G>C (p.Glu3655Gln)
c.10918G>C (p.Glu3640Gln)
c.11071G>C (p.Glu3691Gln)
c.9976G>C (p.Glu3326Gln)
c.6160G>C (p.Glu2054Gln)
c.5713G>C (p.Glu1905Gln)
c.5050G>C (p.Glu1684Gln)
c.9565G>C (p.Glu3189Gln)
5g.13752199C>TCA359190016DNAH5c.10963G>A (p.Glu3655Lys)
c.10918G>A (p.Glu3640Lys)
c.11071G>A (p.Glu3691Lys)
c.9976G>A (p.Glu3326Lys)
c.6160G>A (p.Glu2054Lys)
c.5713G>A (p.Glu1905Lys)
c.5050G>A (p.Glu1684Lys)
c.9565G>A (p.Glu3189Lys)
 COSMIC
5g.13752200C>ACA359190029DNAH5c.10962G>T (p.Glu3654Asp)
c.10917G>T (p.Glu3639Asp)
c.11070G>T (p.Glu3690Asp)
c.9975G>T (p.Glu3325Asp)
c.6159G>T (p.Glu2053Asp)
c.5712G>T (p.Glu1904Asp)
c.5049G>T (p.Glu1683Asp)
c.9564G>T (p.Glu3188Asp)
5g.13752200C=CA1528422939DNAH5c.10962G= (p.Glu3654=)
c.10917G= (p.Glu3639=)
c.11070G= (p.Glu3690=)
c.9975G= (p.Glu3325=)
c.6159G= (p.Glu2053=)
c.5712G= (p.Glu1904=)
c.5049G= (p.Glu1683=)
c.9564G= (p.Glu3188=)
5g.13752200C>GCA359190032DNAH5c.10962G>C (p.Glu3654Asp)
c.10917G>C (p.Glu3639Asp)
c.11070G>C (p.Glu3690Asp)
c.9975G>C (p.Glu3325Asp)
c.6159G>C (p.Glu2053Asp)
c.5712G>C (p.Glu1904Asp)
c.5049G>C (p.Glu1683Asp)
c.9564G>C (p.Glu3188Asp)
5g.13752200C>TCA443248670DNAH5c.10962G>A (p.Glu3654=)
c.10917G>A (p.Glu3639=)
c.11070G>A (p.Glu3690=)
c.9975G>A (p.Glu3325=)
c.6159G>A (p.Glu2053=)
c.5712G>A (p.Glu1904=)
c.5049G>A (p.Glu1683=)
c.9564G>A (p.Glu3188=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752201T>ACA359190036DNAH5c.10961A>T (p.Glu3654Val)
c.10916A>T (p.Glu3639Val)
c.11069A>T (p.Glu3690Val)
c.9974A>T (p.Glu3325Val)
c.6158A>T (p.Glu2053Val)
c.5711A>T (p.Glu1904Val)
c.5048A>T (p.Glu1683Val)
c.9563A>T (p.Glu3188Val)
5g.13752201T>CCA359190038DNAH5c.10961A>G (p.Glu3654Gly)
c.10916A>G (p.Glu3639Gly)
c.11069A>G (p.Glu3690Gly)
c.9974A>G (p.Glu3325Gly)
c.6158A>G (p.Glu2053Gly)
c.5711A>G (p.Glu1904Gly)
c.5048A>G (p.Glu1683Gly)
c.9563A>G (p.Glu3188Gly)
5g.13752201T>GCA359190040DNAH5c.10961A>C (p.Glu3654Ala)
c.10916A>C (p.Glu3639Ala)
c.11069A>C (p.Glu3690Ala)
c.9974A>C (p.Glu3325Ala)
c.6158A>C (p.Glu2053Ala)
c.5711A>C (p.Glu1904Ala)
c.5048A>C (p.Glu1683Ala)
c.9563A>C (p.Glu3188Ala)
5g.13752202C>ACA359190045DNAH5c.10960G>T (p.Glu3654Ter)
c.10915G>T (p.Glu3639Ter)
c.11068G>T (p.Glu3690Ter)
c.9973G>T (p.Glu3325Ter)
c.6157G>T (p.Glu2053Ter)
c.5710G>T (p.Glu1904Ter)
c.5047G>T (p.Glu1683Ter)
c.9562G>T (p.Glu3188Ter)
5g.13752202C=CA1528422940DNAH5c.10960G= (p.Glu3654=)
c.10915G= (p.Glu3639=)
c.11068G= (p.Glu3690=)
c.9973G= (p.Glu3325=)
c.6157G= (p.Glu2053=)
c.5710G= (p.Glu1904=)
c.5047G= (p.Glu1683=)
c.9562G= (p.Glu3188=)
5g.13752202C>GCA3202089DNAH5c.10960G>C (p.Glu3654Gln)
c.10915G>C (p.Glu3639Gln)
c.11068G>C (p.Glu3690Gln)
c.9973G>C (p.Glu3325Gln)
c.6157G>C (p.Glu2053Gln)
c.5710G>C (p.Glu1904Gln)
c.5047G>C (p.Glu1683Gln)
c.9562G>C (p.Glu3188Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752202C>TCA359190043DNAH5c.10960G>A (p.Glu3654Lys)
c.10915G>A (p.Glu3639Lys)
c.11068G>A (p.Glu3690Lys)
c.9973G>A (p.Glu3325Lys)
c.6157G>A (p.Glu2053Lys)
c.5710G>A (p.Glu1904Lys)
c.5047G>A (p.Glu1683Lys)
c.9562G>A (p.Glu3188Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.13752203delCA913108275DNAH5c.10959del (p.Glu3654ArgfsTer3)
c.10914del (p.Glu3639ArgfsTer3)
c.11067del (p.Glu3690ArgfsTer3)
c.9972del (p.Glu3325ArgfsTer3)
c.6156del (p.Glu2053ArgfsTer3)
c.5709del (p.Glu1904ArgfsTer3)
c.5046del (p.Glu1683ArgfsTer3)
c.9561del (p.Glu3188ArgfsTer3)
5g.13752203T>ACA443248674DNAH5c.10959A>T (p.Gly3653=)
c.10914A>T (p.Gly3638=)
c.11067A>T (p.Gly3689=)
c.9972A>T (p.Gly3324=)
c.6156A>T (p.Gly2052=)
c.5709A>T (p.Gly1903=)
c.5046A>T (p.Gly1682=)
c.9561A>T (p.Gly3187=)
5g.13752203T>CCA443248675DNAH5c.10959A>G (p.Gly3653=)
c.10914A>G (p.Gly3638=)
c.11067A>G (p.Gly3689=)
c.9972A>G (p.Gly3324=)
c.6156A>G (p.Gly2052=)
c.5709A>G (p.Gly1903=)
c.5046A>G (p.Gly1682=)
c.9561A>G (p.Gly3187=)
5g.13752203T>GCA443248676DNAH5c.10959A>C (p.Gly3653=)
c.10914A>C (p.Gly3638=)
c.11067A>C (p.Gly3689=)
c.9972A>C (p.Gly3324=)
c.6156A>C (p.Gly2052=)
c.5709A>C (p.Gly1903=)
c.5046A>C (p.Gly1682=)
c.9561A>C (p.Gly3187=)

Number of alleles fetched