Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13770859C>ACA359204650DNAH5c.9495G>T (p.Gln3165His)
c.9450G>T (p.Gln3150His)
n.207G>T
c.9603G>T (p.Gln3201His)
c.8508G>T (p.Gln2836His)
c.4692G>T (p.Gln1564His)
c.4245G>T (p.Gln1415His)
c.3582G>T (p.Gln1194His)
c.8097G>T (p.Gln2699His)
5g.13770859C>GCA359204652DNAH5c.9495G>C (p.Gln3165His)
c.9450G>C (p.Gln3150His)
n.207G>C
c.9603G>C (p.Gln3201His)
c.8508G>C (p.Gln2836His)
c.4692G>C (p.Gln1564His)
c.4245G>C (p.Gln1415His)
c.3582G>C (p.Gln1194His)
c.8097G>C (p.Gln2699His)
5g.13770859C>TCA443535612DNAH5c.9495G>A (p.Gln3165=)
c.9450G>A (p.Gln3150=)
n.207G>A
c.9603G>A (p.Gln3201=)
c.8508G>A (p.Gln2836=)
c.4692G>A (p.Gln1564=)
c.4245G>A (p.Gln1415=)
c.3582G>A (p.Gln1194=)
c.8097G>A (p.Gln2699=)
5g.13770860T>ACA359204656DNAH5c.9494A>T (p.Gln3165Leu)
c.9449A>T (p.Gln3150Leu)
n.206A>T
c.9602A>T (p.Gln3201Leu)
c.8507A>T (p.Gln2836Leu)
c.4691A>T (p.Gln1564Leu)
c.4244A>T (p.Gln1415Leu)
c.3581A>T (p.Gln1194Leu)
c.8096A>T (p.Gln2699Leu)
 COSMIC
5g.13770860T>CCA359204658DNAH5c.9494A>G (p.Gln3165Arg)
c.9449A>G (p.Gln3150Arg)
n.206A>G
c.9602A>G (p.Gln3201Arg)
c.8507A>G (p.Gln2836Arg)
c.4691A>G (p.Gln1564Arg)
c.4244A>G (p.Gln1415Arg)
c.3581A>G (p.Gln1194Arg)
c.8096A>G (p.Gln2699Arg)
5g.13770860T>GCA359204662DNAH5c.9494A>C (p.Gln3165Pro)
c.9449A>C (p.Gln3150Pro)
n.206A>C
c.9602A>C (p.Gln3201Pro)
c.8507A>C (p.Gln2836Pro)
c.4691A>C (p.Gln1564Pro)
c.4244A>C (p.Gln1415Pro)
c.3581A>C (p.Gln1194Pro)
c.8096A>C (p.Gln2699Pro)
5g.13770861G>ACA359204667DNAH5c.9493C>T (p.Gln3165Ter)
c.9448C>T (p.Gln3150Ter)
n.205C>T
c.9601C>T (p.Gln3201Ter)
c.8506C>T (p.Gln2836Ter)
c.4690C>T (p.Gln1564Ter)
c.4243C>T (p.Gln1415Ter)
c.3580C>T (p.Gln1194Ter)
c.8095C>T (p.Gln2699Ter)
 COSMIC
5g.13770861G>CCA359204670DNAH5c.9493C>G (p.Gln3165Glu)
c.9448C>G (p.Gln3150Glu)
n.205C>G
c.9601C>G (p.Gln3201Glu)
c.8506C>G (p.Gln2836Glu)
c.4690C>G (p.Gln1564Glu)
c.4243C>G (p.Gln1415Glu)
c.3580C>G (p.Gln1194Glu)
c.8095C>G (p.Gln2699Glu)
5g.13770861G>TCA359204673DNAH5c.9493C>A (p.Gln3165Lys)
c.9448C>A (p.Gln3150Lys)
n.205C>A
c.9601C>A (p.Gln3201Lys)
c.8506C>A (p.Gln2836Lys)
c.4690C>A (p.Gln1564Lys)
c.4243C>A (p.Gln1415Lys)
c.3580C>A (p.Gln1194Lys)
c.8095C>A (p.Gln2699Lys)
5g.13770862A>CCA359204678DNAH5c.9492T>G (p.Phe3164Leu)
c.9447T>G (p.Phe3149Leu)
n.204T>G
c.9600T>G (p.Phe3200Leu)
c.8505T>G (p.Phe2835Leu)
c.4689T>G (p.Phe1563Leu)
c.4242T>G (p.Phe1414Leu)
c.3579T>G (p.Phe1193Leu)
c.8094T>G (p.Phe2698Leu)
5g.13770862A>GCA443535617DNAH5c.9492T>C (p.Phe3164=)
c.9447T>C (p.Phe3149=)
n.204T>C
c.9600T>C (p.Phe3200=)
c.8505T>C (p.Phe2835=)
c.4689T>C (p.Phe1563=)
c.4242T>C (p.Phe1414=)
c.3579T>C (p.Phe1193=)
c.8094T>C (p.Phe2698=)
5g.13770862A>TCA359204681DNAH5c.9492T>A (p.Phe3164Leu)
c.9447T>A (p.Phe3149Leu)
n.204T>A
c.9600T>A (p.Phe3200Leu)
c.8505T>A (p.Phe2835Leu)
c.4689T>A (p.Phe1563Leu)
c.4242T>A (p.Phe1414Leu)
c.3579T>A (p.Phe1193Leu)
c.8094T>A (p.Phe2698Leu)
5g.13770863A>CCA359204682DNAH5c.9491T>G (p.Phe3164Cys)
c.9446T>G (p.Phe3149Cys)
n.203T>G
c.9599T>G (p.Phe3200Cys)
c.8504T>G (p.Phe2835Cys)
c.4688T>G (p.Phe1563Cys)
c.4241T>G (p.Phe1414Cys)
c.3578T>G (p.Phe1193Cys)
c.8093T>G (p.Phe2698Cys)
5g.13770863A>GCA359204685DNAH5c.9491T>C (p.Phe3164Ser)
c.9446T>C (p.Phe3149Ser)
n.203T>C
c.9599T>C (p.Phe3200Ser)
c.8504T>C (p.Phe2835Ser)
c.4688T>C (p.Phe1563Ser)
c.4241T>C (p.Phe1414Ser)
c.3578T>C (p.Phe1193Ser)
c.8093T>C (p.Phe2698Ser)
5g.13770863A>TCA359204689DNAH5c.9491T>A (p.Phe3164Tyr)
c.9446T>A (p.Phe3149Tyr)
n.203T>A
c.9599T>A (p.Phe3200Tyr)
c.8504T>A (p.Phe2835Tyr)
c.4688T>A (p.Phe1563Tyr)
c.4241T>A (p.Phe1414Tyr)
c.3578T>A (p.Phe1193Tyr)
c.8093T>A (p.Phe2698Tyr)
5g.13770864A=CA1528431214DNAH5c.9490T= (p.Phe3164=)
c.9445T= (p.Phe3149=)
n.202T=
c.9598T= (p.Phe3200=)
c.8503T= (p.Phe2835=)
c.4687T= (p.Phe1563=)
c.4240T= (p.Phe1414=)
c.3577T= (p.Phe1193=)
c.8092T= (p.Phe2698=)
5g.13770864A>CCA3202536DNAH5c.9490T>G (p.Phe3164Val)
c.9445T>G (p.Phe3149Val)
n.202T>G
c.9598T>G (p.Phe3200Val)
c.8503T>G (p.Phe2835Val)
c.4687T>G (p.Phe1563Val)
c.4240T>G (p.Phe1414Val)
c.3577T>G (p.Phe1193Val)
c.8092T>G (p.Phe2698Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770864A>GCA359204699DNAH5c.9490T>C (p.Phe3164Leu)
c.9445T>C (p.Phe3149Leu)
n.202T>C
c.9598T>C (p.Phe3200Leu)
c.8503T>C (p.Phe2835Leu)
c.4687T>C (p.Phe1563Leu)
c.4240T>C (p.Phe1414Leu)
c.3577T>C (p.Phe1193Leu)
c.8092T>C (p.Phe2698Leu)
5g.13770864A>TCA359204696DNAH5c.9490T>A (p.Phe3164Ile)
c.9445T>A (p.Phe3149Ile)
n.202T>A
c.9598T>A (p.Phe3200Ile)
c.8503T>A (p.Phe2835Ile)
c.4687T>A (p.Phe1563Ile)
c.4240T>A (p.Phe1414Ile)
c.3577T>A (p.Phe1193Ile)
c.8092T>A (p.Phe2698Ile)
5g.13770865A=CA1528431215DNAH5c.9489T= (p.Tyr3163=)
c.9444T= (p.Tyr3148=)
n.201T=
c.9597T= (p.Tyr3199=)
c.8502T= (p.Tyr2834=)
c.4686T= (p.Tyr1562=)
c.4239T= (p.Tyr1413=)
c.3576T= (p.Tyr1192=)
c.8091T= (p.Tyr2697=)
5g.13770865A>CCA359204700DNAH5c.9489T>G (p.Tyr3163Ter)
c.9444T>G (p.Tyr3148Ter)
n.201T>G
c.9597T>G (p.Tyr3199Ter)
c.8502T>G (p.Tyr2834Ter)
c.4686T>G (p.Tyr1562Ter)
c.4239T>G (p.Tyr1413Ter)
c.3576T>G (p.Tyr1192Ter)
c.8091T>G (p.Tyr2697Ter)
 ClinVar
5g.13770865A>GCA113932995DNAH5c.9489T>C (p.Tyr3163=)
c.9444T>C (p.Tyr3148=)
n.201T>C
c.9597T>C (p.Tyr3199=)
c.8502T>C (p.Tyr2834=)
c.4686T>C (p.Tyr1562=)
c.4239T>C (p.Tyr1413=)
c.3576T>C (p.Tyr1192=)
c.8091T>C (p.Tyr2697=)
 ClinVar dbSNP gnomAD v4
5g.13770865A>TCA359204703DNAH5c.9489T>A (p.Tyr3163Ter)
c.9444T>A (p.Tyr3148Ter)
n.201T>A
c.9597T>A (p.Tyr3199Ter)
c.8502T>A (p.Tyr2834Ter)
c.4686T>A (p.Tyr1562Ter)
c.4239T>A (p.Tyr1413Ter)
c.3576T>A (p.Tyr1192Ter)
c.8091T>A (p.Tyr2697Ter)
5g.13770866T>ACA359204704DNAH5c.9488A>T (p.Tyr3163Phe)
c.9443A>T (p.Tyr3148Phe)
n.200A>T
c.9596A>T (p.Tyr3199Phe)
c.8501A>T (p.Tyr2834Phe)
c.4685A>T (p.Tyr1562Phe)
c.4238A>T (p.Tyr1413Phe)
c.3575A>T (p.Tyr1192Phe)
c.8090A>T (p.Tyr2697Phe)
5g.13770866T>CCA359204705DNAH5c.9488A>G (p.Tyr3163Cys)
c.9443A>G (p.Tyr3148Cys)
n.200A>G
c.9596A>G (p.Tyr3199Cys)
c.8501A>G (p.Tyr2834Cys)
c.4685A>G (p.Tyr1562Cys)
c.4238A>G (p.Tyr1413Cys)
c.3575A>G (p.Tyr1192Cys)
c.8090A>G (p.Tyr2697Cys)
5g.13770866T>GCA359204706DNAH5c.9488A>C (p.Tyr3163Ser)
c.9443A>C (p.Tyr3148Ser)
n.200A>C
c.9596A>C (p.Tyr3199Ser)
c.8501A>C (p.Tyr2834Ser)
c.4685A>C (p.Tyr1562Ser)
c.4238A>C (p.Tyr1413Ser)
c.3575A>C (p.Tyr1192Ser)
c.8090A>C (p.Tyr2697Ser)
5g.13770867A>CCA359204710DNAH5c.9487T>G (p.Tyr3163Asp)
c.9442T>G (p.Tyr3148Asp)
n.199T>G
c.9595T>G (p.Tyr3199Asp)
c.8500T>G (p.Tyr2834Asp)
c.4684T>G (p.Tyr1562Asp)
c.4237T>G (p.Tyr1413Asp)
c.3574T>G (p.Tyr1192Asp)
c.8089T>G (p.Tyr2697Asp)
5g.13770867A>GCA359204707DNAH5c.9487T>C (p.Tyr3163His)
c.9442T>C (p.Tyr3148His)
n.199T>C
c.9595T>C (p.Tyr3199His)
c.8500T>C (p.Tyr2834His)
c.4684T>C (p.Tyr1562His)
c.4237T>C (p.Tyr1413His)
c.3574T>C (p.Tyr1192His)
c.8089T>C (p.Tyr2697His)
 gnomAD v4
5g.13770867A>TCA359204708DNAH5c.9487T>A (p.Tyr3163Asn)
c.9442T>A (p.Tyr3148Asn)
n.199T>A
c.9595T>A (p.Tyr3199Asn)
c.8500T>A (p.Tyr2834Asn)
c.4684T>A (p.Tyr1562Asn)
c.4237T>A (p.Tyr1413Asn)
c.3574T>A (p.Tyr1192Asn)
c.8089T>A (p.Tyr2697Asn)
5g.13770869_13770872delCA2695204135DNAH5c.9484_9487del (p.Asp3162IlefsTer11)
c.9439_9442del (p.Asp3147IlefsTer11)
n.196_199del
c.9592_9595del (p.Asp3198IlefsTer11)
c.8497_8500del (p.Asp2833IlefsTer11)
c.4681_4684del (p.Asp1561IlefsTer11)
c.4234_4237del (p.Asp1412IlefsTer11)
c.3571_3574del (p.Asp1191IlefsTer11)
c.8086_8089del (p.Asp2696IlefsTer11)
5g.13770868A>CCA359204713DNAH5c.9486T>G (p.Asp3162Glu)
c.9441T>G (p.Asp3147Glu)
n.198T>G
c.9594T>G (p.Asp3198Glu)
c.8499T>G (p.Asp2833Glu)
c.4683T>G (p.Asp1561Glu)
c.4236T>G (p.Asp1412Glu)
c.3573T>G (p.Asp1191Glu)
c.8088T>G (p.Asp2696Glu)
5g.13770868A>GCA443535623DNAH5c.9486T>C (p.Asp3162=)
c.9441T>C (p.Asp3147=)
n.198T>C
c.9594T>C (p.Asp3198=)
c.8499T>C (p.Asp2833=)
c.4683T>C (p.Asp1561=)
c.4236T>C (p.Asp1412=)
c.3573T>C (p.Asp1191=)
c.8088T>C (p.Asp2696=)
 gnomAD v4
5g.13770868A>TCA359204715DNAH5c.9486T>A (p.Asp3162Glu)
c.9441T>A (p.Asp3147Glu)
n.198T>A
c.9594T>A (p.Asp3198Glu)
c.8499T>A (p.Asp2833Glu)
c.4683T>A (p.Asp1561Glu)
c.4236T>A (p.Asp1412Glu)
c.3573T>A (p.Asp1191Glu)
c.8088T>A (p.Asp2696Glu)
5g.13770869T>ACA359204718DNAH5c.9485A>T (p.Asp3162Val)
c.9440A>T (p.Asp3147Val)
n.197A>T
c.9593A>T (p.Asp3198Val)
c.8498A>T (p.Asp2833Val)
c.4682A>T (p.Asp1561Val)
c.4235A>T (p.Asp1412Val)
c.3572A>T (p.Asp1191Val)
c.8087A>T (p.Asp2696Val)
5g.13770869T>CCA359204722DNAH5c.9485A>G (p.Asp3162Gly)
c.9440A>G (p.Asp3147Gly)
n.197A>G
c.9593A>G (p.Asp3198Gly)
c.8498A>G (p.Asp2833Gly)
c.4682A>G (p.Asp1561Gly)
c.4235A>G (p.Asp1412Gly)
c.3572A>G (p.Asp1191Gly)
c.8087A>G (p.Asp2696Gly)
5g.13770869T>GCA359204724DNAH5c.9485A>C (p.Asp3162Ala)
c.9440A>C (p.Asp3147Ala)
n.197A>C
c.9593A>C (p.Asp3198Ala)
c.8498A>C (p.Asp2833Ala)
c.4682A>C (p.Asp1561Ala)
c.4235A>C (p.Asp1412Ala)
c.3572A>C (p.Asp1191Ala)
c.8087A>C (p.Asp2696Ala)
5g.13770870C>ACA359204728DNAH5c.9484G>T (p.Asp3162Tyr)
c.9439G>T (p.Asp3147Tyr)
n.196G>T
c.9592G>T (p.Asp3198Tyr)
c.8497G>T (p.Asp2833Tyr)
c.4681G>T (p.Asp1561Tyr)
c.4234G>T (p.Asp1412Tyr)
c.3571G>T (p.Asp1191Tyr)
c.8086G>T (p.Asp2696Tyr)
5g.13770870C=CA1528431216DNAH5c.9484G= (p.Asp3162=)
c.9439G= (p.Asp3147=)
n.196G=
c.9592G= (p.Asp3198=)
c.8497G= (p.Asp2833=)
c.4681G= (p.Asp1561=)
c.4234G= (p.Asp1412=)
c.3571G= (p.Asp1191=)
c.8086G= (p.Asp2696=)
5g.13770870C>GCA359204732DNAH5c.9484G>C (p.Asp3162His)
c.9439G>C (p.Asp3147His)
n.196G>C
c.9592G>C (p.Asp3198His)
c.8497G>C (p.Asp2833His)
c.4681G>C (p.Asp1561His)
c.4234G>C (p.Asp1412His)
c.3571G>C (p.Asp1191His)
c.8086G>C (p.Asp2696His)
 dbSNP gnomAD v4
5g.13770870C>TCA359204729DNAH5c.9484G>A (p.Asp3162Asn)
c.9439G>A (p.Asp3147Asn)
n.196G>A
c.9592G>A (p.Asp3198Asn)
c.8497G>A (p.Asp2833Asn)
c.4681G>A (p.Asp1561Asn)
c.4234G>A (p.Asp1412Asn)
c.3571G>A (p.Asp1191Asn)
c.8086G>A (p.Asp2696Asn)
5g.13770871A>CCA443535625DNAH5c.9483T>G (p.Val3161=)
c.9438T>G (p.Val3146=)
n.195T>G
c.9591T>G (p.Val3197=)
c.8496T>G (p.Val2832=)
c.4680T>G (p.Val1560=)
c.4233T>G (p.Val1411=)
c.3570T>G (p.Val1190=)
c.8085T>G (p.Val2695=)
5g.13770871A>GCA443535627DNAH5c.9483T>C (p.Val3161=)
c.9438T>C (p.Val3146=)
n.195T>C
c.9591T>C (p.Val3197=)
c.8496T>C (p.Val2832=)
c.4680T>C (p.Val1560=)
c.4233T>C (p.Val1411=)
c.3570T>C (p.Val1190=)
c.8085T>C (p.Val2695=)
5g.13770871A>TCA443535628DNAH5c.9483T>A (p.Val3161=)
c.9438T>A (p.Val3146=)
n.195T>A
c.9591T>A (p.Val3197=)
c.8496T>A (p.Val2832=)
c.4680T>A (p.Val1560=)
c.4233T>A (p.Val1411=)
c.3570T>A (p.Val1190=)
c.8085T>A (p.Val2695=)
5g.13770872A=CA1528431217DNAH5c.9482T= (p.Val3161=)
c.9437T= (p.Val3146=)
n.194T=
c.9590T= (p.Val3197=)
c.8495T= (p.Val2832=)
c.4679T= (p.Val1560=)
c.4232T= (p.Val1411=)
c.3569T= (p.Val1190=)
c.8084T= (p.Val2695=)
5g.13770872A>CCA359204736DNAH5c.9482T>G (p.Val3161Gly)
c.9437T>G (p.Val3146Gly)
n.194T>G
c.9590T>G (p.Val3197Gly)
c.8495T>G (p.Val2832Gly)
c.4679T>G (p.Val1560Gly)
c.4232T>G (p.Val1411Gly)
c.3569T>G (p.Val1190Gly)
c.8084T>G (p.Val2695Gly)
5g.13770872A>GCA359204738DNAH5c.9482T>C (p.Val3161Ala)
c.9437T>C (p.Val3146Ala)
n.194T>C
c.9590T>C (p.Val3197Ala)
c.8495T>C (p.Val2832Ala)
c.4679T>C (p.Val1560Ala)
c.4232T>C (p.Val1411Ala)
c.3569T>C (p.Val1190Ala)
c.8084T>C (p.Val2695Ala)
 dbSNP
5g.13770872A>TCA113933001DNAH5c.9482T>A (p.Val3161Asp)
c.9437T>A (p.Val3146Asp)
n.194T>A
c.9590T>A (p.Val3197Asp)
c.8495T>A (p.Val2832Asp)
c.4679T>A (p.Val1560Asp)
c.4232T>A (p.Val1411Asp)
c.3569T>A (p.Val1190Asp)
c.8084T>A (p.Val2695Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770873C>ACA3202537DNAH5c.9481G>T (p.Val3161Phe)
c.9436G>T (p.Val3146Phe)
n.193G>T
c.9589G>T (p.Val3197Phe)
c.8494G>T (p.Val2832Phe)
c.4678G>T (p.Val1560Phe)
c.4231G>T (p.Val1411Phe)
c.3568G>T (p.Val1190Phe)
c.8083G>T (p.Val2695Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770873C=CA1528431218DNAH5c.9481G= (p.Val3161=)
c.9436G= (p.Val3146=)
n.193G=
c.9589G= (p.Val3197=)
c.8494G= (p.Val2832=)
c.4678G= (p.Val1560=)
c.4231G= (p.Val1411=)
c.3568G= (p.Val1190=)
c.8083G= (p.Val2695=)
5g.13770873C>GCA359204742DNAH5c.9481G>C (p.Val3161Leu)
c.9436G>C (p.Val3146Leu)
n.193G>C
c.9589G>C (p.Val3197Leu)
c.8494G>C (p.Val2832Leu)
c.4678G>C (p.Val1560Leu)
c.4231G>C (p.Val1411Leu)
c.3568G>C (p.Val1190Leu)
c.8083G>C (p.Val2695Leu)
5g.13770873C>TCA359204744DNAH5c.9481G>A (p.Val3161Ile)
c.9436G>A (p.Val3146Ile)
n.193G>A
c.9589G>A (p.Val3197Ile)
c.8494G>A (p.Val2832Ile)
c.4678G>A (p.Val1560Ile)
c.4231G>A (p.Val1411Ile)
c.3568G>A (p.Val1190Ile)
c.8083G>A (p.Val2695Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.13770874A=CA1528431219DNAH5c.9480T= (p.Cys3160=)
c.9435T= (p.Cys3145=)
n.192T=
c.9588T= (p.Cys3196=)
c.8493T= (p.Cys2831=)
c.4677T= (p.Cys1559=)
c.4230T= (p.Cys1410=)
c.3567T= (p.Cys1189=)
c.8082T= (p.Cys2694=)
5g.13770874A>CCA359204749DNAH5c.9480T>G (p.Cys3160Trp)
c.9435T>G (p.Cys3145Trp)
n.192T>G
c.9588T>G (p.Cys3196Trp)
c.8493T>G (p.Cys2831Trp)
c.4677T>G (p.Cys1559Trp)
c.4230T>G (p.Cys1410Trp)
c.3567T>G (p.Cys1189Trp)
c.8082T>G (p.Cys2694Trp)
5g.13770874A>GCA443535630DNAH5c.9480T>C (p.Cys3160=)
c.9435T>C (p.Cys3145=)
n.192T>C
c.9588T>C (p.Cys3196=)
c.8493T>C (p.Cys2831=)
c.4677T>C (p.Cys1559=)
c.4230T>C (p.Cys1410=)
c.3567T>C (p.Cys1189=)
c.8082T>C (p.Cys2694=)
 gnomAD v4
5g.13770874A>TCA3202538DNAH5c.9480T>A (p.Cys3160Ter)
c.9435T>A (p.Cys3145Ter)
n.192T>A
c.9588T>A (p.Cys3196Ter)
c.8493T>A (p.Cys2831Ter)
c.4677T>A (p.Cys1559Ter)
c.4230T>A (p.Cys1410Ter)
c.3567T>A (p.Cys1189Ter)
c.8082T>A (p.Cys2694Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770875C>ACA359204755DNAH5c.9479G>T (p.Cys3160Phe)
c.9434G>T (p.Cys3145Phe)
n.191G>T
c.9587G>T (p.Cys3196Phe)
c.8492G>T (p.Cys2831Phe)
c.4676G>T (p.Cys1559Phe)
c.4229G>T (p.Cys1410Phe)
c.3566G>T (p.Cys1189Phe)
c.8081G>T (p.Cys2694Phe)
5g.13770875C>GCA359204760DNAH5c.9479G>C (p.Cys3160Ser)
c.9434G>C (p.Cys3145Ser)
n.191G>C
c.9587G>C (p.Cys3196Ser)
c.8492G>C (p.Cys2831Ser)
c.4676G>C (p.Cys1559Ser)
c.4229G>C (p.Cys1410Ser)
c.3566G>C (p.Cys1189Ser)
c.8081G>C (p.Cys2694Ser)
5g.13770875C>TCA359204764DNAH5c.9479G>A (p.Cys3160Tyr)
c.9434G>A (p.Cys3145Tyr)
n.191G>A
c.9587G>A (p.Cys3196Tyr)
c.8492G>A (p.Cys2831Tyr)
c.4676G>A (p.Cys1559Tyr)
c.4229G>A (p.Cys1410Tyr)
c.3566G>A (p.Cys1189Tyr)
c.8081G>A (p.Cys2694Tyr)
5g.13770876A=CA1528431220DNAH5c.9478T= (p.Cys3160=)
c.9433T= (p.Cys3145=)
n.190T=
c.9586T= (p.Cys3196=)
c.8491T= (p.Cys2831=)
c.4675T= (p.Cys1559=)
c.4228T= (p.Cys1410=)
c.3565T= (p.Cys1189=)
c.8080T= (p.Cys2694=)
5g.13770876A>CCA359204772DNAH5c.9478T>G (p.Cys3160Gly)
c.9433T>G (p.Cys3145Gly)
n.190T>G
c.9586T>G (p.Cys3196Gly)
c.8491T>G (p.Cys2831Gly)
c.4675T>G (p.Cys1559Gly)
c.4228T>G (p.Cys1410Gly)
c.3565T>G (p.Cys1189Gly)
c.8080T>G (p.Cys2694Gly)
5g.13770876A>GCA3202539DNAH5c.9478T>C (p.Cys3160Arg)
c.9433T>C (p.Cys3145Arg)
n.190T>C
c.9586T>C (p.Cys3196Arg)
c.8491T>C (p.Cys2831Arg)
c.4675T>C (p.Cys1559Arg)
c.4228T>C (p.Cys1410Arg)
c.3565T>C (p.Cys1189Arg)
c.8080T>C (p.Cys2694Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770876A>TCA359204767DNAH5c.9478T>A (p.Cys3160Ser)
c.9433T>A (p.Cys3145Ser)
n.190T>A
c.9586T>A (p.Cys3196Ser)
c.8491T>A (p.Cys2831Ser)
c.4675T>A (p.Cys1559Ser)
c.4228T>A (p.Cys1410Ser)
c.3565T>A (p.Cys1189Ser)
c.8080T>A (p.Cys2694Ser)
5g.13770877C>ACA359204786DNAH5c.9477G>T (p.Lys3159Asn)
c.9432G>T (p.Lys3144Asn)
n.189G>T
c.9585G>T (p.Lys3195Asn)
c.8490G>T (p.Lys2830Asn)
c.4674G>T (p.Lys1558Asn)
c.4227G>T (p.Lys1409Asn)
c.3564G>T (p.Lys1188Asn)
c.8079G>T (p.Lys2693Asn)
5g.13770877C=CA1528431221DNAH5c.9477G= (p.Lys3159=)
c.9432G= (p.Lys3144=)
n.189G=
c.9585G= (p.Lys3195=)
c.8490G= (p.Lys2830=)
c.4674G= (p.Lys1558=)
c.4227G= (p.Lys1409=)
c.3564G= (p.Lys1188=)
c.8079G= (p.Lys2693=)
5g.13770877C>GCA359204790DNAH5c.9477G>C (p.Lys3159Asn)
c.9432G>C (p.Lys3144Asn)
n.189G>C
c.9585G>C (p.Lys3195Asn)
c.8490G>C (p.Lys2830Asn)
c.4674G>C (p.Lys1558Asn)
c.4227G>C (p.Lys1409Asn)
c.3564G>C (p.Lys1188Asn)
c.8079G>C (p.Lys2693Asn)
5g.13770877C>TCA443535640DNAH5c.9477G>A (p.Lys3159=)
c.9432G>A (p.Lys3144=)
n.189G>A
c.9585G>A (p.Lys3195=)
c.8490G>A (p.Lys2830=)
c.4674G>A (p.Lys1558=)
c.4227G>A (p.Lys1409=)
c.3564G>A (p.Lys1188=)
c.8079G>A (p.Lys2693=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13770878T>ACA359204794DNAH5c.9476A>T (p.Lys3159Met)
c.9431A>T (p.Lys3144Met)
n.188A>T
c.9584A>T (p.Lys3195Met)
c.8489A>T (p.Lys2830Met)
c.4673A>T (p.Lys1558Met)
c.4226A>T (p.Lys1409Met)
c.3563A>T (p.Lys1188Met)
c.8078A>T (p.Lys2693Met)
5g.13770878T>CCA359204804DNAH5c.9476A>G (p.Lys3159Arg)
c.9431A>G (p.Lys3144Arg)
n.188A>G
c.9584A>G (p.Lys3195Arg)
c.8489A>G (p.Lys2830Arg)
c.4673A>G (p.Lys1558Arg)
c.4226A>G (p.Lys1409Arg)
c.3563A>G (p.Lys1188Arg)
c.8078A>G (p.Lys2693Arg)
5g.13770878T>GCA359204796DNAH5c.9476A>C (p.Lys3159Thr)
c.9431A>C (p.Lys3144Thr)
n.188A>C
c.9584A>C (p.Lys3195Thr)
c.8489A>C (p.Lys2830Thr)
c.4673A>C (p.Lys1558Thr)
c.4226A>C (p.Lys1409Thr)
c.3563A>C (p.Lys1188Thr)
c.8078A>C (p.Lys2693Thr)
5g.13770879T>ACA3202540DNAH5c.9475A>T (p.Lys3159Ter)
c.9430A>T (p.Lys3144Ter)
n.187A>T
c.9583A>T (p.Lys3195Ter)
c.8488A>T (p.Lys2830Ter)
c.4672A>T (p.Lys1558Ter)
c.4225A>T (p.Lys1409Ter)
c.3562A>T (p.Lys1188Ter)
c.8077A>T (p.Lys2693Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770879T>CCA359204814DNAH5c.9475A>G (p.Lys3159Glu)
c.9430A>G (p.Lys3144Glu)
n.187A>G
c.9583A>G (p.Lys3195Glu)
c.8488A>G (p.Lys2830Glu)
c.4672A>G (p.Lys1558Glu)
c.4225A>G (p.Lys1409Glu)
c.3562A>G (p.Lys1188Glu)
c.8077A>G (p.Lys2693Glu)
5g.13770879T>GCA359204811DNAH5c.9475A>C (p.Lys3159Gln)
c.9430A>C (p.Lys3144Gln)
n.187A>C
c.9583A>C (p.Lys3195Gln)
c.8488A>C (p.Lys2830Gln)
c.4672A>C (p.Lys1558Gln)
c.4225A>C (p.Lys1409Gln)
c.3562A>C (p.Lys1188Gln)
c.8077A>C (p.Lys2693Gln)
 dbSNP
5g.13770879T=CA1528431222DNAH5c.9475A= (p.Lys3159=)
c.9430A= (p.Lys3144=)
n.187A=
c.9583A= (p.Lys3195=)
c.8488A= (p.Lys2830=)
c.4672A= (p.Lys1558=)
c.4225A= (p.Lys1409=)
c.3562A= (p.Lys1188=)
c.8077A= (p.Lys2693=)
5g.13770880C>ACA359204817DNAH5c.9474G>T (p.Glu3158Asp)
c.9429G>T (p.Glu3143Asp)
n.186G>T
c.9582G>T (p.Glu3194Asp)
c.8487G>T (p.Glu2829Asp)
c.4671G>T (p.Glu1557Asp)
c.4224G>T (p.Glu1408Asp)
c.3561G>T (p.Glu1187Asp)
c.8076G>T (p.Glu2692Asp)
 COSMIC
5g.13770880C>GCA359204819DNAH5c.9474G>C (p.Glu3158Asp)
c.9429G>C (p.Glu3143Asp)
n.186G>C
c.9582G>C (p.Glu3194Asp)
c.8487G>C (p.Glu2829Asp)
c.4671G>C (p.Glu1557Asp)
c.4224G>C (p.Glu1408Asp)
c.3561G>C (p.Glu1187Asp)
c.8076G>C (p.Glu2692Asp)
5g.13770880C>TCA443535647DNAH5c.9474G>A (p.Glu3158=)
c.9429G>A (p.Glu3143=)
n.186G>A
c.9582G>A (p.Glu3194=)
c.8487G>A (p.Glu2829=)
c.4671G>A (p.Glu1557=)
c.4224G>A (p.Glu1408=)
c.3561G>A (p.Glu1187=)
c.8076G>A (p.Glu2692=)
 gnomAD v4
5g.13770881T>ACA359204822DNAH5c.9473A>T (p.Glu3158Val)
c.9428A>T (p.Glu3143Val)
n.185A>T
c.9581A>T (p.Glu3194Val)
c.8486A>T (p.Glu2829Val)
c.4670A>T (p.Glu1557Val)
c.4223A>T (p.Glu1408Val)
c.3560A>T (p.Glu1187Val)
c.8075A>T (p.Glu2692Val)
5g.13770881T>CCA359204824DNAH5c.9473A>G (p.Glu3158Gly)
c.9428A>G (p.Glu3143Gly)
n.185A>G
c.9581A>G (p.Glu3194Gly)
c.8486A>G (p.Glu2829Gly)
c.4670A>G (p.Glu1557Gly)
c.4223A>G (p.Glu1408Gly)
c.3560A>G (p.Glu1187Gly)
c.8075A>G (p.Glu2692Gly)
5g.13770881T>GCA359204825DNAH5c.9473A>C (p.Glu3158Ala)
c.9428A>C (p.Glu3143Ala)
n.185A>C
c.9581A>C (p.Glu3194Ala)
c.8486A>C (p.Glu2829Ala)
c.4670A>C (p.Glu1557Ala)
c.4223A>C (p.Glu1408Ala)
c.3560A>C (p.Glu1187Ala)
c.8075A>C (p.Glu2692Ala)
5g.13770882C>ACA359204826DNAH5c.9472G>T (p.Glu3158Ter)
c.9427G>T (p.Glu3143Ter)
n.184G>T
c.9580G>T (p.Glu3194Ter)
c.8485G>T (p.Glu2829Ter)
c.4669G>T (p.Glu1557Ter)
c.4222G>T (p.Glu1408Ter)
c.3559G>T (p.Glu1187Ter)
c.8074G>T (p.Glu2692Ter)
5g.13770882C=CA1528431223DNAH5c.9472G= (p.Glu3158=)
c.9427G= (p.Glu3143=)
n.184G=
c.9580G= (p.Glu3194=)
c.8485G= (p.Glu2829=)
c.4669G= (p.Glu1557=)
c.4222G= (p.Glu1408=)
c.3559G= (p.Glu1187=)
c.8074G= (p.Glu2692=)
5g.13770882C>GCA359204828DNAH5c.9472G>C (p.Glu3158Gln)
c.9427G>C (p.Glu3143Gln)
n.184G>C
c.9580G>C (p.Glu3194Gln)
c.8485G>C (p.Glu2829Gln)
c.4669G>C (p.Glu1557Gln)
c.4222G>C (p.Glu1408Gln)
c.3559G>C (p.Glu1187Gln)
c.8074G>C (p.Glu2692Gln)
5g.13770882C>TCA113933049DNAH5c.9472G>A (p.Glu3158Lys)
c.9427G>A (p.Glu3143Lys)
n.184G>A
c.9580G>A (p.Glu3194Lys)
c.8485G>A (p.Glu2829Lys)
c.4669G>A (p.Glu1557Lys)
c.4222G>A (p.Glu1408Lys)
c.3559G>A (p.Glu1187Lys)
c.8074G>A (p.Glu2692Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770883A>CCA443535652DNAH5c.9471T>G (p.Ala3157=)
c.9426T>G (p.Ala3142=)
n.183T>G
c.9579T>G (p.Ala3193=)
c.8484T>G (p.Ala2828=)
c.4668T>G (p.Ala1556=)
c.4221T>G (p.Ala1407=)
c.3558T>G (p.Ala1186=)
c.8073T>G (p.Ala2691=)
 gnomAD v4
5g.13770883A>GCA443535653DNAH5c.9471T>C (p.Ala3157=)
c.9426T>C (p.Ala3142=)
n.183T>C
c.9579T>C (p.Ala3193=)
c.8484T>C (p.Ala2828=)
c.4668T>C (p.Ala1556=)
c.4221T>C (p.Ala1407=)
c.3558T>C (p.Ala1186=)
c.8073T>C (p.Ala2691=)
5g.13770883A>TCA443535654DNAH5c.9471T>A (p.Ala3157=)
c.9426T>A (p.Ala3142=)
n.183T>A
c.9579T>A (p.Ala3193=)
c.8484T>A (p.Ala2828=)
c.4668T>A (p.Ala1556=)
c.4221T>A (p.Ala1407=)
c.3558T>A (p.Ala1186=)
c.8073T>A (p.Ala2691=)
5g.13770884G>ACA3202541DNAH5c.9470C>T (p.Ala3157Val)
c.9425C>T (p.Ala3142Val)
n.182C>T
c.9578C>T (p.Ala3193Val)
c.8483C>T (p.Ala2828Val)
c.4667C>T (p.Ala1556Val)
c.4220C>T (p.Ala1407Val)
c.3557C>T (p.Ala1186Val)
c.8072C>T (p.Ala2691Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770884G>CCA359204835DNAH5c.9470C>G (p.Ala3157Gly)
c.9425C>G (p.Ala3142Gly)
n.182C>G
c.9578C>G (p.Ala3193Gly)
c.8483C>G (p.Ala2828Gly)
c.4667C>G (p.Ala1556Gly)
c.4220C>G (p.Ala1407Gly)
c.3557C>G (p.Ala1186Gly)
c.8072C>G (p.Ala2691Gly)
5g.13770884G=CA1528431224DNAH5c.9470C= (p.Ala3157=)
c.9425C= (p.Ala3142=)
n.182C=
c.9578C= (p.Ala3193=)
c.8483C= (p.Ala2828=)
c.4667C= (p.Ala1556=)
c.4220C= (p.Ala1407=)
c.3557C= (p.Ala1186=)
c.8072C= (p.Ala2691=)
5g.13770884G>TCA113933058DNAH5c.9470C>A (p.Ala3157Asp)
c.9425C>A (p.Ala3142Asp)
n.182C>A
c.9578C>A (p.Ala3193Asp)
c.8483C>A (p.Ala2828Asp)
c.4667C>A (p.Ala1556Asp)
c.4220C>A (p.Ala1407Asp)
c.3557C>A (p.Ala1186Asp)
c.8072C>A (p.Ala2691Asp)
 dbSNP gnomAD v4
5g.13770885C>ACA359204836DNAH5c.9469G>T (p.Ala3157Ser)
c.9424G>T (p.Ala3142Ser)
n.181G>T
c.9577G>T (p.Ala3193Ser)
c.8482G>T (p.Ala2828Ser)
c.4666G>T (p.Ala1556Ser)
c.4219G>T (p.Ala1407Ser)
c.3556G>T (p.Ala1186Ser)
c.8071G>T (p.Ala2691Ser)
5g.13770885C>GCA359204838DNAH5c.9469G>C (p.Ala3157Pro)
c.9424G>C (p.Ala3142Pro)
n.181G>C
c.9577G>C (p.Ala3193Pro)
c.8482G>C (p.Ala2828Pro)
c.4666G>C (p.Ala1556Pro)
c.4219G>C (p.Ala1407Pro)
c.3556G>C (p.Ala1186Pro)
c.8071G>C (p.Ala2691Pro)
5g.13770885C>TCA359204837DNAH5c.9469G>A (p.Ala3157Thr)
c.9424G>A (p.Ala3142Thr)
n.181G>A
c.9577G>A (p.Ala3193Thr)
c.8482G>A (p.Ala2828Thr)
c.4666G>A (p.Ala1556Thr)
c.4219G>A (p.Ala1407Thr)
c.3556G>A (p.Ala1186Thr)
c.8071G>A (p.Ala2691Thr)
 gnomAD v4
5g.13770886C>ACA443535659DNAH5c.9468G>T (p.Val3156=)
c.9423G>T (p.Val3141=)
n.180G>T
c.9576G>T (p.Val3192=)
c.8481G>T (p.Val2827=)
c.4665G>T (p.Val1555=)
c.4218G>T (p.Val1406=)
c.3555G>T (p.Val1185=)
c.8070G>T (p.Val2690=)
5g.13770886C>GCA443535660DNAH5c.9468G>C (p.Val3156=)
c.9423G>C (p.Val3141=)
n.180G>C
c.9576G>C (p.Val3192=)
c.8481G>C (p.Val2827=)
c.4665G>C (p.Val1555=)
c.4218G>C (p.Val1406=)
c.3555G>C (p.Val1185=)
c.8070G>C (p.Val2690=)
5g.13770886C>TCA443535661DNAH5c.9468G>A (p.Val3156=)
c.9423G>A (p.Val3141=)
n.180G>A
c.9576G>A (p.Val3192=)
c.8481G>A (p.Val2827=)
c.4665G>A (p.Val1555=)
c.4218G>A (p.Val1406=)
c.3555G>A (p.Val1185=)
c.8070G>A (p.Val2690=)
 gnomAD v4
5g.13770887A=CA1528431225DNAH5c.9467T= (p.Val3156=)
c.9422T= (p.Val3141=)
n.179T=
c.9575T= (p.Val3192=)
c.8480T= (p.Val2827=)
c.4664T= (p.Val1555=)
c.4217T= (p.Val1406=)
c.3554T= (p.Val1185=)
c.8069T= (p.Val2690=)
5g.13770887A>CCA359204841DNAH5c.9467T>G (p.Val3156Gly)
c.9422T>G (p.Val3141Gly)
n.179T>G
c.9575T>G (p.Val3192Gly)
c.8480T>G (p.Val2827Gly)
c.4664T>G (p.Val1555Gly)
c.4217T>G (p.Val1406Gly)
c.3554T>G (p.Val1185Gly)
c.8069T>G (p.Val2690Gly)
5g.13770887A>GCA359204850DNAH5c.9467T>C (p.Val3156Ala)
c.9422T>C (p.Val3141Ala)
n.179T>C
c.9575T>C (p.Val3192Ala)
c.8480T>C (p.Val2827Ala)
c.4664T>C (p.Val1555Ala)
c.4217T>C (p.Val1406Ala)
c.3554T>C (p.Val1185Ala)
c.8069T>C (p.Val2690Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.13770887A>TCA359204853DNAH5c.9467T>A (p.Val3156Glu)
c.9422T>A (p.Val3141Glu)
n.179T>A
c.9575T>A (p.Val3192Glu)
c.8480T>A (p.Val2827Glu)
c.4664T>A (p.Val1555Glu)
c.4217T>A (p.Val1406Glu)
c.3554T>A (p.Val1185Glu)
c.8069T>A (p.Val2690Glu)
5g.13770888C>ACA359204858DNAH5c.9466G>T (p.Val3156Leu)
c.9421G>T (p.Val3141Leu)
n.178G>T
c.9574G>T (p.Val3192Leu)
c.8479G>T (p.Val2827Leu)
c.4663G>T (p.Val1555Leu)
c.4216G>T (p.Val1406Leu)
c.3553G>T (p.Val1185Leu)
c.8068G>T (p.Val2690Leu)
5g.13770888C>GCA359204859DNAH5c.9466G>C (p.Val3156Leu)
c.9421G>C (p.Val3141Leu)
n.178G>C
c.9574G>C (p.Val3192Leu)
c.8479G>C (p.Val2827Leu)
c.4663G>C (p.Val1555Leu)
c.4216G>C (p.Val1406Leu)
c.3553G>C (p.Val1185Leu)
c.8068G>C (p.Val2690Leu)
5g.13770888C>TCA359204861DNAH5c.9466G>A (p.Val3156Met)
c.9421G>A (p.Val3141Met)
n.178G>A
c.9574G>A (p.Val3192Met)
c.8479G>A (p.Val2827Met)
c.4663G>A (p.Val1555Met)
c.4216G>A (p.Val1406Met)
c.3553G>A (p.Val1185Met)
c.8068G>A (p.Val2690Met)
 gnomAD v4
5g.13770890_13770891delCA2580072363DNAH5c.9465_9466del (p.Val3156GlyfsTer2)
c.9420_9421del (p.Val3141GlyfsTer2)
n.177_178del
c.9573_9574del (p.Val3192GlyfsTer2)
c.8478_8479del (p.Val2827GlyfsTer2)
c.4662_4663del (p.Val1555GlyfsTer2)
c.4215_4216del (p.Val1406GlyfsTer2)
c.3552_3553del (p.Val1185GlyfsTer2)
c.8067_8068del (p.Val2690GlyfsTer2)
 ClinVar
5g.13770889C>ACA443535671DNAH5c.9465G>T (p.Gly3155=)
c.9420G>T (p.Gly3140=)
n.177G>T
c.9573G>T (p.Gly3191=)
c.8478G>T (p.Gly2826=)
c.4662G>T (p.Gly1554=)
c.4215G>T (p.Gly1405=)
c.3552G>T (p.Gly1184=)
c.8067G>T (p.Gly2689=)
 dbSNP gnomAD v3 gnomAD v4
5g.13770889C=CA1528431226DNAH5c.9465G= (p.Gly3155=)
c.9420G= (p.Gly3140=)
n.177G=
c.9573G= (p.Gly3191=)
c.8478G= (p.Gly2826=)
c.4662G= (p.Gly1554=)
c.4215G= (p.Gly1405=)
c.3552G= (p.Gly1184=)
c.8067G= (p.Gly2689=)
5g.13770889C>GCA443535669DNAH5c.9465G>C (p.Gly3155=)
c.9420G>C (p.Gly3140=)
n.177G>C
c.9573G>C (p.Gly3191=)
c.8478G>C (p.Gly2826=)
c.4662G>C (p.Gly1554=)
c.4215G>C (p.Gly1405=)
c.3552G>C (p.Gly1184=)
c.8067G>C (p.Gly2689=)
 gnomAD v4
5g.13770889C>TCA443535668DNAH5c.9465G>A (p.Gly3155=)
c.9420G>A (p.Gly3140=)
n.177G>A
c.9573G>A (p.Gly3191=)
c.8478G>A (p.Gly2826=)
c.4662G>A (p.Gly1554=)
c.4215G>A (p.Gly1405=)
c.3552G>A (p.Gly1184=)
c.8067G>A (p.Gly2689=)
 ClinVar gnomAD v4
5g.13770890C>ACA359204863DNAH5c.9464G>T (p.Gly3155Val)
c.9419G>T (p.Gly3140Val)
n.176G>T
c.9572G>T (p.Gly3191Val)
c.8477G>T (p.Gly2826Val)
c.4661G>T (p.Gly1554Val)
c.4214G>T (p.Gly1405Val)
c.3551G>T (p.Gly1184Val)
c.8066G>T (p.Gly2689Val)
 gnomAD v3 gnomAD v4
5g.13770890C>GCA359204865DNAH5c.9464G>C (p.Gly3155Ala)
c.9419G>C (p.Gly3140Ala)
n.176G>C
c.9572G>C (p.Gly3191Ala)
c.8477G>C (p.Gly2826Ala)
c.4661G>C (p.Gly1554Ala)
c.4214G>C (p.Gly1405Ala)
c.3551G>C (p.Gly1184Ala)
c.8066G>C (p.Gly2689Ala)
5g.13770890C>TCA359204870DNAH5c.9464G>A (p.Gly3155Glu)
c.9419G>A (p.Gly3140Glu)
n.176G>A
c.9572G>A (p.Gly3191Glu)
c.8477G>A (p.Gly2826Glu)
c.4661G>A (p.Gly1554Glu)
c.4214G>A (p.Gly1405Glu)
c.3551G>A (p.Gly1184Glu)
c.8066G>A (p.Gly2689Glu)
5g.13770891C>ACA359204873DNAH5c.9463G>T (p.Gly3155Trp)
c.9418G>T (p.Gly3140Trp)
n.175G>T
c.9571G>T (p.Gly3191Trp)
c.8476G>T (p.Gly2826Trp)
c.4660G>T (p.Gly1554Trp)
c.4213G>T (p.Gly1405Trp)
c.3550G>T (p.Gly1184Trp)
c.8065G>T (p.Gly2689Trp)
 COSMIC
5g.13770891C=CA1528431227DNAH5c.9463G= (p.Gly3155=)
c.9418G= (p.Gly3140=)
n.175G=
c.9571G= (p.Gly3191=)
c.8476G= (p.Gly2826=)
c.4660G= (p.Gly1554=)
c.4213G= (p.Gly1405=)
c.3550G= (p.Gly1184=)
c.8065G= (p.Gly2689=)
5g.13770891C>GCA359204877DNAH5c.9463G>C (p.Gly3155Arg)
c.9418G>C (p.Gly3140Arg)
n.175G>C
c.9571G>C (p.Gly3191Arg)
c.8476G>C (p.Gly2826Arg)
c.4660G>C (p.Gly1554Arg)
c.4213G>C (p.Gly1405Arg)
c.3550G>C (p.Gly1184Arg)
c.8065G>C (p.Gly2689Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.13770891C>TCA359204872DNAH5c.9463G>A (p.Gly3155Arg)
c.9418G>A (p.Gly3140Arg)
n.175G>A
c.9571G>A (p.Gly3191Arg)
c.8476G>A (p.Gly2826Arg)
c.4660G>A (p.Gly1554Arg)
c.4213G>A (p.Gly1405Arg)
c.3550G>A (p.Gly1184Arg)
c.8065G>A (p.Gly2689Arg)
5g.13770892A>CCA359204879DNAH5c.9462T>G (p.Asp3154Glu)
c.9417T>G (p.Asp3139Glu)
n.174T>G
c.9570T>G (p.Asp3190Glu)
c.8475T>G (p.Asp2825Glu)
c.4659T>G (p.Asp1553Glu)
c.4212T>G (p.Asp1404Glu)
c.3549T>G (p.Asp1183Glu)
c.8064T>G (p.Asp2688Glu)
5g.13770892A>GCA443535678DNAH5c.9462T>C (p.Asp3154=)
c.9417T>C (p.Asp3139=)
n.174T>C
c.9570T>C (p.Asp3190=)
c.8475T>C (p.Asp2825=)
c.4659T>C (p.Asp1553=)
c.4212T>C (p.Asp1404=)
c.3549T>C (p.Asp1183=)
c.8064T>C (p.Asp2688=)
5g.13770892A>TCA359204880DNAH5c.9462T>A (p.Asp3154Glu)
c.9417T>A (p.Asp3139Glu)
n.174T>A
c.9570T>A (p.Asp3190Glu)
c.8475T>A (p.Asp2825Glu)
c.4659T>A (p.Asp1553Glu)
c.4212T>A (p.Asp1404Glu)
c.3549T>A (p.Asp1183Glu)
c.8064T>A (p.Asp2688Glu)
5g.13770893T>ACA359204881DNAH5c.9461A>T (p.Asp3154Val)
c.9416A>T (p.Asp3139Val)
n.173A>T
c.9569A>T (p.Asp3190Val)
c.8474A>T (p.Asp2825Val)
c.4658A>T (p.Asp1553Val)
c.4211A>T (p.Asp1404Val)
c.3548A>T (p.Asp1183Val)
c.8063A>T (p.Asp2688Val)
5g.13770893T>CCA359204882DNAH5c.9461A>G (p.Asp3154Gly)
c.9416A>G (p.Asp3139Gly)
n.173A>G
c.9569A>G (p.Asp3190Gly)
c.8474A>G (p.Asp2825Gly)
c.4658A>G (p.Asp1553Gly)
c.4211A>G (p.Asp1404Gly)
c.3548A>G (p.Asp1183Gly)
c.8063A>G (p.Asp2688Gly)
5g.13770893T>GCA3202542DNAH5c.9461A>C (p.Asp3154Ala)
c.9416A>C (p.Asp3139Ala)
n.173A>C
c.9569A>C (p.Asp3190Ala)
c.8474A>C (p.Asp2825Ala)
c.4658A>C (p.Asp1553Ala)
c.4211A>C (p.Asp1404Ala)
c.3548A>C (p.Asp1183Ala)
c.8063A>C (p.Asp2688Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770893T=CA1528431228DNAH5c.9461A= (p.Asp3154=)
c.9416A= (p.Asp3139=)
n.173A=
c.9569A= (p.Asp3190=)
c.8474A= (p.Asp2825=)
c.4658A= (p.Asp1553=)
c.4211A= (p.Asp1404=)
c.3548A= (p.Asp1183=)
c.8063A= (p.Asp2688=)
5g.13770893_13770894insAGAAAAACCA2695204136DNAH5c.9460_9461insGTTTTTCT (p.Asp3154GlyfsTer23)
c.9415_9416insGTTTTTCT (p.Asp3139GlyfsTer23)
n.172_173insGTTTTTCT
c.9568_9569insGTTTTTCT (p.Asp3190GlyfsTer23)
c.8473_8474insGTTTTTCT (p.Asp2825GlyfsTer23)
c.4657_4658insGTTTTTCT (p.Asp1553GlyfsTer23)
c.4210_4211insGTTTTTCT (p.Asp1404GlyfsTer23)
c.3547_3548insGTTTTTCT (p.Asp1183GlyfsTer23)
c.8062_8063insGTTTTTCT (p.Asp2688GlyfsTer23)
5g.13770894C>ACA359204884DNAH5c.9460G>T (p.Asp3154Tyr)
c.9415G>T (p.Asp3139Tyr)
n.172G>T
c.9568G>T (p.Asp3190Tyr)
c.8473G>T (p.Asp2825Tyr)
c.4657G>T (p.Asp1553Tyr)
c.4210G>T (p.Asp1404Tyr)
c.3547G>T (p.Asp1183Tyr)
c.8062G>T (p.Asp2688Tyr)
5g.13770894C>GCA359204893DNAH5c.9460G>C (p.Asp3154His)
c.9415G>C (p.Asp3139His)
n.172G>C
c.9568G>C (p.Asp3190His)
c.8473G>C (p.Asp2825His)
c.4657G>C (p.Asp1553His)
c.4210G>C (p.Asp1404His)
c.3547G>C (p.Asp1183His)
c.8062G>C (p.Asp2688His)
5g.13770894C>TCA359204895DNAH5c.9460G>A (p.Asp3154Asn)
c.9415G>A (p.Asp3139Asn)
n.172G>A
c.9568G>A (p.Asp3190Asn)
c.8473G>A (p.Asp2825Asn)
c.4657G>A (p.Asp1553Asn)
c.4210G>A (p.Asp1404Asn)
c.3547G>A (p.Asp1183Asn)
c.8062G>A (p.Asp2688Asn)
 COSMIC
5g.13770895C>ACA359204899DNAH5c.9459G>T (p.Gln3153His)
c.9414G>T (p.Gln3138His)
n.171G>T
c.9567G>T (p.Gln3189His)
c.8472G>T (p.Gln2824His)
c.4656G>T (p.Gln1552His)
c.4209G>T (p.Gln1403His)
c.3546G>T (p.Gln1182His)
c.8061G>T (p.Gln2687His)
5g.13770895C=CA1528431229DNAH5c.9459G= (p.Gln3153=)
c.9414G= (p.Gln3138=)
n.171G=
c.9567G= (p.Gln3189=)
c.8472G= (p.Gln2824=)
c.4656G= (p.Gln1552=)
c.4209G= (p.Gln1403=)
c.3546G= (p.Gln1182=)
c.8061G= (p.Gln2687=)
5g.13770895C>GCA359204902DNAH5c.9459G>C (p.Gln3153His)
c.9414G>C (p.Gln3138His)
n.171G>C
c.9567G>C (p.Gln3189His)
c.8472G>C (p.Gln2824His)
c.4656G>C (p.Gln1552His)
c.4209G>C (p.Gln1403His)
c.3546G>C (p.Gln1182His)
c.8061G>C (p.Gln2687His)
5g.13770895C>TCA113933064DNAH5c.9459G>A (p.Gln3153=)
c.9414G>A (p.Gln3138=)
n.171G>A
c.9567G>A (p.Gln3189=)
c.8472G>A (p.Gln2824=)
c.4656G>A (p.Gln1552=)
c.4209G>A (p.Gln1403=)
c.3546G>A (p.Gln1182=)
c.8061G>A (p.Gln2687=)
 dbSNP
5g.13770896T>ACA359204907DNAH5c.9458A>T (p.Gln3153Leu)
c.9413A>T (p.Gln3138Leu)
n.170A>T
c.9566A>T (p.Gln3189Leu)
c.8471A>T (p.Gln2824Leu)
c.4655A>T (p.Gln1552Leu)
c.4208A>T (p.Gln1403Leu)
c.3545A>T (p.Gln1182Leu)
c.8060A>T (p.Gln2687Leu)
5g.13770896T>CCA359204908DNAH5c.9458A>G (p.Gln3153Arg)
c.9413A>G (p.Gln3138Arg)
n.170A>G
c.9566A>G (p.Gln3189Arg)
c.8471A>G (p.Gln2824Arg)
c.4655A>G (p.Gln1552Arg)
c.4208A>G (p.Gln1403Arg)
c.3545A>G (p.Gln1182Arg)
c.8060A>G (p.Gln2687Arg)
5g.13770896T>GCA359204906DNAH5c.9458A>C (p.Gln3153Pro)
c.9413A>C (p.Gln3138Pro)
n.170A>C
c.9566A>C (p.Gln3189Pro)
c.8471A>C (p.Gln2824Pro)
c.4655A>C (p.Gln1552Pro)
c.4208A>C (p.Gln1403Pro)
c.3545A>C (p.Gln1182Pro)
c.8060A>C (p.Gln2687Pro)
5g.13770897G>ACA359204909DNAH5c.9457C>T (p.Gln3153Ter)
c.9412C>T (p.Gln3138Ter)
n.169C>T
c.9565C>T (p.Gln3189Ter)
c.8470C>T (p.Gln2824Ter)
c.4654C>T (p.Gln1552Ter)
c.4207C>T (p.Gln1403Ter)
c.3544C>T (p.Gln1182Ter)
c.8059C>T (p.Gln2687Ter)
5g.13770897G>CCA359204911DNAH5c.9457C>G (p.Gln3153Glu)
c.9412C>G (p.Gln3138Glu)
n.169C>G
c.9565C>G (p.Gln3189Glu)
c.8470C>G (p.Gln2824Glu)
c.4654C>G (p.Gln1552Glu)
c.4207C>G (p.Gln1403Glu)
c.3544C>G (p.Gln1182Glu)
c.8059C>G (p.Gln2687Glu)
5g.13770897G>TCA359204912DNAH5c.9457C>A (p.Gln3153Lys)
c.9412C>A (p.Gln3138Lys)
n.169C>A
c.9565C>A (p.Gln3189Lys)
c.8470C>A (p.Gln2824Lys)
c.4654C>A (p.Gln1552Lys)
c.4207C>A (p.Gln1403Lys)
c.3544C>A (p.Gln1182Lys)
c.8059C>A (p.Gln2687Lys)
5g.13770898G>ACA443535682DNAH5c.9456C>T (p.Phe3152=)
c.9411C>T (p.Phe3137=)
n.168C>T
c.9564C>T (p.Phe3188=)
c.8469C>T (p.Phe2823=)
c.4653C>T (p.Phe1551=)
c.4206C>T (p.Phe1402=)
c.3543C>T (p.Phe1181=)
c.8058C>T (p.Phe2686=)
5g.13770898G>CCA359204915DNAH5c.9456C>G (p.Phe3152Leu)
c.9411C>G (p.Phe3137Leu)
n.168C>G
c.9564C>G (p.Phe3188Leu)
c.8469C>G (p.Phe2823Leu)
c.4653C>G (p.Phe1551Leu)
c.4206C>G (p.Phe1402Leu)
c.3543C>G (p.Phe1181Leu)
c.8058C>G (p.Phe2686Leu)
5g.13770898G>TCA359204918DNAH5c.9456C>A (p.Phe3152Leu)
c.9411C>A (p.Phe3137Leu)
n.168C>A
c.9564C>A (p.Phe3188Leu)
c.8469C>A (p.Phe2823Leu)
c.4653C>A (p.Phe1551Leu)
c.4206C>A (p.Phe1402Leu)
c.3543C>A (p.Phe1181Leu)
c.8058C>A (p.Phe2686Leu)
5g.13770899A>CCA359204931DNAH5c.9455T>G (p.Phe3152Cys)
c.9410T>G (p.Phe3137Cys)
n.167T>G
c.9563T>G (p.Phe3188Cys)
c.8468T>G (p.Phe2823Cys)
c.4652T>G (p.Phe1551Cys)
c.4205T>G (p.Phe1402Cys)
c.3542T>G (p.Phe1181Cys)
c.8057T>G (p.Phe2686Cys)
5g.13770899A>GCA359204926DNAH5c.9455T>C (p.Phe3152Ser)
c.9410T>C (p.Phe3137Ser)
n.167T>C
c.9563T>C (p.Phe3188Ser)
c.8468T>C (p.Phe2823Ser)
c.4652T>C (p.Phe1551Ser)
c.4205T>C (p.Phe1402Ser)
c.3542T>C (p.Phe1181Ser)
c.8057T>C (p.Phe2686Ser)
5g.13770899A>TCA359204928DNAH5c.9455T>A (p.Phe3152Tyr)
c.9410T>A (p.Phe3137Tyr)
n.167T>A
c.9563T>A (p.Phe3188Tyr)
c.8468T>A (p.Phe2823Tyr)
c.4652T>A (p.Phe1551Tyr)
c.4205T>A (p.Phe1402Tyr)
c.3542T>A (p.Phe1181Tyr)
c.8057T>A (p.Phe2686Tyr)
5g.13770900A>CCA359204934DNAH5c.9454T>G (p.Phe3152Val)
c.9409T>G (p.Phe3137Val)
n.166T>G
c.9562T>G (p.Phe3188Val)
c.8467T>G (p.Phe2823Val)
c.4651T>G (p.Phe1551Val)
c.4204T>G (p.Phe1402Val)
c.3541T>G (p.Phe1181Val)
c.8056T>G (p.Phe2686Val)
5g.13770900A>GCA359204937DNAH5c.9454T>C (p.Phe3152Leu)
c.9409T>C (p.Phe3137Leu)
n.166T>C
c.9562T>C (p.Phe3188Leu)
c.8467T>C (p.Phe2823Leu)
c.4651T>C (p.Phe1551Leu)
c.4204T>C (p.Phe1402Leu)
c.3541T>C (p.Phe1181Leu)
c.8056T>C (p.Phe2686Leu)
5g.13770900A>TCA359204938DNAH5c.9454T>A (p.Phe3152Ile)
c.9409T>A (p.Phe3137Ile)
n.166T>A
c.9562T>A (p.Phe3188Ile)
c.8467T>A (p.Phe2823Ile)
c.4651T>A (p.Phe1551Ile)
c.4204T>A (p.Phe1402Ile)
c.3541T>A (p.Phe1181Ile)
c.8056T>A (p.Phe2686Ile)
5g.13770901G>ACA443535687DNAH5c.9453C>T (p.Ser3151=)
c.9408C>T (p.Ser3136=)
n.165C>T
c.9561C>T (p.Ser3187=)
c.8466C>T (p.Ser2822=)
c.4650C>T (p.Ser1550=)
c.4203C>T (p.Ser1401=)
c.3540C>T (p.Ser1180=)
c.8055C>T (p.Ser2685=)
 dbSNP COSMIC
5g.13770901G>CCA443535689DNAH5c.9453C>G (p.Ser3151=)
c.9408C>G (p.Ser3136=)
n.165C>G
c.9561C>G (p.Ser3187=)
c.8466C>G (p.Ser2822=)
c.4650C>G (p.Ser1550=)
c.4203C>G (p.Ser1401=)
c.3540C>G (p.Ser1180=)
c.8055C>G (p.Ser2685=)
5g.13770901G=CA1528431230DNAH5c.9453C= (p.Ser3151=)
c.9408C= (p.Ser3136=)
n.165C=
c.9561C= (p.Ser3187=)
c.8466C= (p.Ser2822=)
c.4650C= (p.Ser1550=)
c.4203C= (p.Ser1401=)
c.3540C= (p.Ser1180=)
c.8055C= (p.Ser2685=)
5g.13770901G>TCA443535690DNAH5c.9453C>A (p.Ser3151=)
c.9408C>A (p.Ser3136=)
n.165C>A
c.9561C>A (p.Ser3187=)
c.8466C>A (p.Ser2822=)
c.4650C>A (p.Ser1550=)
c.4203C>A (p.Ser1401=)
c.3540C>A (p.Ser1180=)
c.8055C>A (p.Ser2685=)
5g.13770902G>ACA359204942DNAH5c.9452C>T (p.Ser3151Phe)
c.9407C>T (p.Ser3136Phe)
n.164C>T
c.9560C>T (p.Ser3187Phe)
c.8465C>T (p.Ser2822Phe)
c.4649C>T (p.Ser1550Phe)
c.4202C>T (p.Ser1401Phe)
c.3539C>T (p.Ser1180Phe)
c.8054C>T (p.Ser2685Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770902G>CCA359204944DNAH5c.9452C>G (p.Ser3151Cys)
c.9407C>G (p.Ser3136Cys)
n.164C>G
c.9560C>G (p.Ser3187Cys)
c.8465C>G (p.Ser2822Cys)
c.4649C>G (p.Ser1550Cys)
c.4202C>G (p.Ser1401Cys)
c.3539C>G (p.Ser1180Cys)
c.8054C>G (p.Ser2685Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13770902G=CA1528431231DNAH5c.9452C= (p.Ser3151=)
c.9407C= (p.Ser3136=)
n.164C=
c.9560C= (p.Ser3187=)
c.8465C= (p.Ser2822=)
c.4649C= (p.Ser1550=)
c.4202C= (p.Ser1401=)
c.3539C= (p.Ser1180=)
c.8054C= (p.Ser2685=)
5g.13770902G>TCA359204951DNAH5c.9452C>A (p.Ser3151Tyr)
c.9407C>A (p.Ser3136Tyr)
n.164C>A
c.9560C>A (p.Ser3187Tyr)
c.8465C>A (p.Ser2822Tyr)
c.4649C>A (p.Ser1550Tyr)
c.4202C>A (p.Ser1401Tyr)
c.3539C>A (p.Ser1180Tyr)
c.8054C>A (p.Ser2685Tyr)
5g.13770903A=CA1528431232DNAH5c.9451T= (p.Ser3151=)
c.9406T= (p.Ser3136=)
n.163T=
c.9559T= (p.Ser3187=)
c.8464T= (p.Ser2822=)
c.4648T= (p.Ser1550=)
c.4201T= (p.Ser1401=)
c.3538T= (p.Ser1180=)
c.8053T= (p.Ser2685=)
5g.13770903A>CCA359204959DNAH5c.9451T>G (p.Ser3151Ala)
c.9406T>G (p.Ser3136Ala)
n.163T>G
c.9559T>G (p.Ser3187Ala)
c.8464T>G (p.Ser2822Ala)
c.4648T>G (p.Ser1550Ala)
c.4201T>G (p.Ser1401Ala)
c.3538T>G (p.Ser1180Ala)
c.8053T>G (p.Ser2685Ala)
5g.13770903A>GCA359204960DNAH5c.9451T>C (p.Ser3151Pro)
c.9406T>C (p.Ser3136Pro)
n.163T>C
c.9559T>C (p.Ser3187Pro)
c.8464T>C (p.Ser2822Pro)
c.4648T>C (p.Ser1550Pro)
c.4201T>C (p.Ser1401Pro)
c.3538T>C (p.Ser1180Pro)
c.8053T>C (p.Ser2685Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.13770903A>TCA359204953DNAH5c.9451T>A (p.Ser3151Thr)
c.9406T>A (p.Ser3136Thr)
n.163T>A
c.9559T>A (p.Ser3187Thr)
c.8464T>A (p.Ser2822Thr)
c.4648T>A (p.Ser1550Thr)
c.4201T>A (p.Ser1401Thr)
c.3538T>A (p.Ser1180Thr)
c.8053T>A (p.Ser2685Thr)
5g.13770904G>ACA443535692DNAH5c.9450C>T (p.Gly3150=)
c.9405C>T (p.Gly3135=)
n.162C>T
c.9558C>T (p.Gly3186=)
c.8463C>T (p.Gly2821=)
c.4647C>T (p.Gly1549=)
c.4200C>T (p.Gly1400=)
c.3537C>T (p.Gly1179=)
c.8052C>T (p.Gly2684=)
 ClinVar
5g.13770904G>CCA443535693DNAH5c.9450C>G (p.Gly3150=)
c.9405C>G (p.Gly3135=)
n.162C>G
c.9558C>G (p.Gly3186=)
c.8463C>G (p.Gly2821=)
c.4647C>G (p.Gly1549=)
c.4200C>G (p.Gly1400=)
c.3537C>G (p.Gly1179=)
c.8052C>G (p.Gly2684=)
5g.13770904G>TCA443535694DNAH5c.9450C>A (p.Gly3150=)
c.9405C>A (p.Gly3135=)
n.162C>A
c.9558C>A (p.Gly3186=)
c.8463C>A (p.Gly2821=)
c.4647C>A (p.Gly1549=)
c.4200C>A (p.Gly1400=)
c.3537C>A (p.Gly1179=)
c.8052C>A (p.Gly2684=)
 gnomAD v4
5g.13770904_13770905delinsGCCA1528431233DNAH5c.9449_9450delinsGC (p.Gly3150=)
c.9404_9405delinsGC (p.Gly3135=)
n.161_162delinsGC
c.9557_9558delinsGC (p.Gly3186=)
c.8462_8463delinsGC (p.Gly2821=)
c.4646_4647delinsGC (p.Gly1549=)
c.4199_4200delinsGC (p.Gly1400=)
c.3536_3537delinsGC (p.Gly1179=)
c.8051_8052delinsGC (p.Gly2684=)
5g.13770905C>ACA359204962DNAH5c.9449G>T (p.Gly3150Val)
c.9404G>T (p.Gly3135Val)
n.161G>T
c.9557G>T (p.Gly3186Val)
c.8462G>T (p.Gly2821Val)
c.4646G>T (p.Gly1549Val)
c.4199G>T (p.Gly1400Val)
c.3536G>T (p.Gly1179Val)
c.8051G>T (p.Gly2684Val)
5g.13770905C>GCA359204965DNAH5c.9449G>C (p.Gly3150Ala)
c.9404G>C (p.Gly3135Ala)
n.161G>C
c.9557G>C (p.Gly3186Ala)
c.8462G>C (p.Gly2821Ala)
c.4646G>C (p.Gly1549Ala)
c.4199G>C (p.Gly1400Ala)
c.3536G>C (p.Gly1179Ala)
c.8051G>C (p.Gly2684Ala)
5g.13770905C>TCA359204970DNAH5c.9449G>A (p.Gly3150Asp)
c.9404G>A (p.Gly3135Asp)
n.161G>A
c.9557G>A (p.Gly3186Asp)
c.8462G>A (p.Gly2821Asp)
c.4646G>A (p.Gly1549Asp)
c.4199G>A (p.Gly1400Asp)
c.3536G>A (p.Gly1179Asp)
c.8051G>A (p.Gly2684Asp)
5g.13770907delCA273615DNAH5c.9449del (p.Gly3150AlafsTer24)
c.9404del (p.Gly3135AlafsTer24)
n.161del
c.9557del (p.Gly3186AlafsTer24)
c.8462del (p.Gly2821AlafsTer24)
c.4646del (p.Gly1549AlafsTer24)
c.4199del (p.Gly1400AlafsTer24)
c.3536del (p.Gly1179AlafsTer24)
c.8051del (p.Gly2684AlafsTer24)
 ClinVar dbSNP
5g.13770906C>ACA359204974DNAH5c.9448G>T (p.Gly3150Cys)
c.9403G>T (p.Gly3135Cys)
n.160G>T
c.9556G>T (p.Gly3186Cys)
c.8461G>T (p.Gly2821Cys)
c.4645G>T (p.Gly1549Cys)
c.4198G>T (p.Gly1400Cys)
c.3535G>T (p.Gly1179Cys)
c.8050G>T (p.Gly2684Cys)
5g.13770906C>GCA359204977DNAH5c.9448G>C (p.Gly3150Arg)
c.9403G>C (p.Gly3135Arg)
n.160G>C
c.9556G>C (p.Gly3186Arg)
c.8461G>C (p.Gly2821Arg)
c.4645G>C (p.Gly1549Arg)
c.4198G>C (p.Gly1400Arg)
c.3535G>C (p.Gly1179Arg)
c.8050G>C (p.Gly2684Arg)
5g.13770906C>TCA359204980DNAH5c.9448G>A (p.Gly3150Ser)
c.9403G>A (p.Gly3135Ser)
n.160G>A
c.9556G>A (p.Gly3186Ser)
c.8461G>A (p.Gly2821Ser)
c.4645G>A (p.Gly1549Ser)
c.4198G>A (p.Gly1400Ser)
c.3535G>A (p.Gly1179Ser)
c.8050G>A (p.Gly2684Ser)
5g.13770907C>ACA359204981DNAH5c.9447G>T (p.Met3149Ile)
c.9402G>T (p.Met3134Ile)
n.159G>T
c.9555G>T (p.Met3185Ile)
c.8460G>T (p.Met2820Ile)
c.4644G>T (p.Met1548Ile)
c.4197G>T (p.Met1399Ile)
c.3534G>T (p.Met1178Ile)
c.8049G>T (p.Met2683Ile)
5g.13770907C>GCA359204983DNAH5c.9447G>C (p.Met3149Ile)
c.9402G>C (p.Met3134Ile)
n.159G>C
c.9555G>C (p.Met3185Ile)
c.8460G>C (p.Met2820Ile)
c.4644G>C (p.Met1548Ile)
c.4197G>C (p.Met1399Ile)
c.3534G>C (p.Met1178Ile)
c.8049G>C (p.Met2683Ile)
5g.13770907C>TCA359204985DNAH5c.9447G>A (p.Met3149Ile)
c.9402G>A (p.Met3134Ile)
n.159G>A
c.9555G>A (p.Met3185Ile)
c.8460G>A (p.Met2820Ile)
c.4644G>A (p.Met1548Ile)
c.4197G>A (p.Met1399Ile)
c.3534G>A (p.Met1178Ile)
c.8049G>A (p.Met2683Ile)
 gnomAD v4
5g.13770908A>CCA359204988DNAH5c.9446T>G (p.Met3149Arg)
c.9401T>G (p.Met3134Arg)
n.158T>G
c.9554T>G (p.Met3185Arg)
c.8459T>G (p.Met2820Arg)
c.4643T>G (p.Met1548Arg)
c.4196T>G (p.Met1399Arg)
c.3533T>G (p.Met1178Arg)
c.8048T>G (p.Met2683Arg)
5g.13770908A>GCA359204990DNAH5c.9446T>C (p.Met3149Thr)
c.9401T>C (p.Met3134Thr)
n.158T>C
c.9554T>C (p.Met3185Thr)
c.8459T>C (p.Met2820Thr)
c.4643T>C (p.Met1548Thr)
c.4196T>C (p.Met1399Thr)
c.3533T>C (p.Met1178Thr)
c.8048T>C (p.Met2683Thr)
5g.13770908A>TCA359204999DNAH5c.9446T>A (p.Met3149Lys)
c.9401T>A (p.Met3134Lys)
n.158T>A
c.9554T>A (p.Met3185Lys)
c.8459T>A (p.Met2820Lys)
c.4643T>A (p.Met1548Lys)
c.4196T>A (p.Met1399Lys)
c.3533T>A (p.Met1178Lys)
c.8048T>A (p.Met2683Lys)
5g.13770909T>ACA359205007DNAH5c.9445A>T (p.Met3149Leu)
c.9400A>T (p.Met3134Leu)
n.157A>T
c.9553A>T (p.Met3185Leu)
c.8458A>T (p.Met2820Leu)
c.4642A>T (p.Met1548Leu)
c.4195A>T (p.Met1399Leu)
c.3532A>T (p.Met1178Leu)
c.8047A>T (p.Met2683Leu)
 gnomAD v4
5g.13770909T>CCA359205005DNAH5c.9445A>G (p.Met3149Val)
c.9400A>G (p.Met3134Val)
n.157A>G
c.9553A>G (p.Met3185Val)
c.8458A>G (p.Met2820Val)
c.4642A>G (p.Met1548Val)
c.4195A>G (p.Met1399Val)
c.3532A>G (p.Met1178Val)
c.8047A>G (p.Met2683Val)
5g.13770909T>GCA359205002DNAH5c.9445A>C (p.Met3149Leu)
c.9400A>C (p.Met3134Leu)
n.157A>C
c.9553A>C (p.Met3185Leu)
c.8458A>C (p.Met2820Leu)
c.4642A>C (p.Met1548Leu)
c.4195A>C (p.Met1399Leu)
c.3532A>C (p.Met1178Leu)
c.8047A>C (p.Met2683Leu)
5g.13770910G>ACA3202543DNAH5c.9444C>T (p.Cys3148=)
c.9399C>T (p.Cys3133=)
n.156C>T
c.9552C>T (p.Cys3184=)
c.8457C>T (p.Cys2819=)
c.4641C>T (p.Cys1547=)
c.4194C>T (p.Cys1398=)
c.3531C>T (p.Cys1177=)
c.8046C>T (p.Cys2682=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770910G>CCA359205015DNAH5c.9444C>G (p.Cys3148Trp)
c.9399C>G (p.Cys3133Trp)
n.156C>G
c.9552C>G (p.Cys3184Trp)
c.8457C>G (p.Cys2819Trp)
c.4641C>G (p.Cys1547Trp)
c.4194C>G (p.Cys1398Trp)
c.3531C>G (p.Cys1177Trp)
c.8046C>G (p.Cys2682Trp)
 gnomAD v4
5g.13770910G=CA1528431234DNAH5c.9444C= (p.Cys3148=)
c.9399C= (p.Cys3133=)
n.156C=
c.9552C= (p.Cys3184=)
c.8457C= (p.Cys2819=)
c.4641C= (p.Cys1547=)
c.4194C= (p.Cys1398=)
c.3531C= (p.Cys1177=)
c.8046C= (p.Cys2682=)
5g.13770910G>TCA359205019DNAH5c.9444C>A (p.Cys3148Ter)
c.9399C>A (p.Cys3133Ter)
n.156C>A
c.9552C>A (p.Cys3184Ter)
c.8457C>A (p.Cys2819Ter)
c.4641C>A (p.Cys1547Ter)
c.4194C>A (p.Cys1398Ter)
c.3531C>A (p.Cys1177Ter)
c.8046C>A (p.Cys2682Ter)
5g.13770911C>ACA359205020DNAH5c.9443G>T (p.Cys3148Phe)
c.9398G>T (p.Cys3133Phe)
n.155G>T
c.9551G>T (p.Cys3184Phe)
c.8456G>T (p.Cys2819Phe)
c.4640G>T (p.Cys1547Phe)
c.4193G>T (p.Cys1398Phe)
c.3530G>T (p.Cys1177Phe)
c.8045G>T (p.Cys2682Phe)
 gnomAD v4
5g.13770911C>GCA359205023DNAH5c.9443G>C (p.Cys3148Ser)
c.9398G>C (p.Cys3133Ser)
n.155G>C
c.9551G>C (p.Cys3184Ser)
c.8456G>C (p.Cys2819Ser)
c.4640G>C (p.Cys1547Ser)
c.4193G>C (p.Cys1398Ser)
c.3530G>C (p.Cys1177Ser)
c.8045G>C (p.Cys2682Ser)
5g.13770911C>TCA359205026DNAH5c.9443G>A (p.Cys3148Tyr)
c.9398G>A (p.Cys3133Tyr)
n.155G>A
c.9551G>A (p.Cys3184Tyr)
c.8456G>A (p.Cys2819Tyr)
c.4640G>A (p.Cys1547Tyr)
c.4193G>A (p.Cys1398Tyr)
c.3530G>A (p.Cys1177Tyr)
c.8045G>A (p.Cys2682Tyr)
5g.13770912A>CCA359205027DNAH5c.9442T>G (p.Cys3148Gly)
c.9397T>G (p.Cys3133Gly)
n.154T>G
c.9550T>G (p.Cys3184Gly)
c.8455T>G (p.Cys2819Gly)
c.4639T>G (p.Cys1547Gly)
c.4192T>G (p.Cys1398Gly)
c.3529T>G (p.Cys1177Gly)
c.8044T>G (p.Cys2682Gly)
5g.13770912A>GCA359205028DNAH5c.9442T>C (p.Cys3148Arg)
c.9397T>C (p.Cys3133Arg)
n.154T>C
c.9550T>C (p.Cys3184Arg)
c.8455T>C (p.Cys2819Arg)
c.4639T>C (p.Cys1547Arg)
c.4192T>C (p.Cys1398Arg)
c.3529T>C (p.Cys1177Arg)
c.8044T>C (p.Cys2682Arg)
5g.13770912A>TCA359205030DNAH5c.9442T>A (p.Cys3148Ser)
c.9397T>A (p.Cys3133Ser)
n.154T>A
c.9550T>A (p.Cys3184Ser)
c.8455T>A (p.Cys2819Ser)
c.4639T>A (p.Cys1547Ser)
c.4192T>A (p.Cys1398Ser)
c.3529T>A (p.Cys1177Ser)
c.8044T>A (p.Cys2682Ser)
5g.13770913T>ACA359205032DNAH5c.9441A>T (p.Gln3147His)
c.9396A>T (p.Gln3132His)
n.153A>T
c.9549A>T (p.Gln3183His)
c.8454A>T (p.Gln2818His)
c.4638A>T (p.Gln1546His)
c.4191A>T (p.Gln1397His)
c.3528A>T (p.Gln1176His)
c.8043A>T (p.Gln2681His)
5g.13770913T>CCA443535710DNAH5c.9441A>G (p.Gln3147=)
c.9396A>G (p.Gln3132=)
n.153A>G
c.9549A>G (p.Gln3183=)
c.8454A>G (p.Gln2818=)
c.4638A>G (p.Gln1546=)
c.4191A>G (p.Gln1397=)
c.3528A>G (p.Gln1176=)
c.8043A>G (p.Gln2681=)
 gnomAD v4
5g.13770913T>GCA359205034DNAH5c.9441A>C (p.Gln3147His)
c.9396A>C (p.Gln3132His)
n.153A>C
c.9549A>C (p.Gln3183His)
c.8454A>C (p.Gln2818His)
c.4638A>C (p.Gln1546His)
c.4191A>C (p.Gln1397His)
c.3528A>C (p.Gln1176His)
c.8043A>C (p.Gln2681His)
5g.13770914T>ACA359205037DNAH5c.9440A>T (p.Gln3147Leu)
c.9395A>T (p.Gln3132Leu)
n.152A>T
c.9548A>T (p.Gln3183Leu)
c.8453A>T (p.Gln2818Leu)
c.4637A>T (p.Gln1546Leu)
c.4190A>T (p.Gln1397Leu)
c.3527A>T (p.Gln1176Leu)
c.8042A>T (p.Gln2681Leu)
5g.13770914T>CCA359205038DNAH5c.9440A>G (p.Gln3147Arg)
c.9395A>G (p.Gln3132Arg)
n.152A>G
c.9548A>G (p.Gln3183Arg)
c.8453A>G (p.Gln2818Arg)
c.4637A>G (p.Gln1546Arg)
c.4190A>G (p.Gln1397Arg)
c.3527A>G (p.Gln1176Arg)
c.8042A>G (p.Gln2681Arg)
5g.13770914T>GCA359205041DNAH5c.9440A>C (p.Gln3147Pro)
c.9395A>C (p.Gln3132Pro)
n.152A>C
c.9548A>C (p.Gln3183Pro)
c.8453A>C (p.Gln2818Pro)
c.4637A>C (p.Gln1546Pro)
c.4190A>C (p.Gln1397Pro)
c.3527A>C (p.Gln1176Pro)
c.8042A>C (p.Gln2681Pro)
5g.13770915G>ACA359205047DNAH5c.9439C>T (p.Gln3147Ter)
c.9394C>T (p.Gln3132Ter)
n.151C>T
c.9547C>T (p.Gln3183Ter)
c.8452C>T (p.Gln2818Ter)
c.4636C>T (p.Gln1546Ter)
c.4189C>T (p.Gln1397Ter)
c.3526C>T (p.Gln1176Ter)
c.8041C>T (p.Gln2681Ter)
 COSMIC
5g.13770915G>CCA359205054DNAH5c.9439C>G (p.Gln3147Glu)
c.9394C>G (p.Gln3132Glu)
n.151C>G
c.9547C>G (p.Gln3183Glu)
c.8452C>G (p.Gln2818Glu)
c.4636C>G (p.Gln1546Glu)
c.4189C>G (p.Gln1397Glu)
c.3526C>G (p.Gln1176Glu)
c.8041C>G (p.Gln2681Glu)
5g.13770915G>TCA359205044DNAH5c.9439C>A (p.Gln3147Lys)
c.9394C>A (p.Gln3132Lys)
n.151C>A
c.9547C>A (p.Gln3183Lys)
c.8452C>A (p.Gln2818Lys)
c.4636C>A (p.Gln1546Lys)
c.4189C>A (p.Gln1397Lys)
c.3526C>A (p.Gln1176Lys)
c.8041C>A (p.Gln2681Lys)
5g.13770916G>ACA443535719DNAH5c.9438C>T (p.Val3146=)
c.9393C>T (p.Val3131=)
n.150C>T
c.9546C>T (p.Val3182=)
c.8451C>T (p.Val2817=)
c.4635C>T (p.Val1545=)
c.4188C>T (p.Val1396=)
c.3525C>T (p.Val1175=)
c.8040C>T (p.Val2680=)
5g.13770916G>CCA443535720DNAH5c.9438C>G (p.Val3146=)
c.9393C>G (p.Val3131=)
n.150C>G
c.9546C>G (p.Val3182=)
c.8451C>G (p.Val2817=)
c.4635C>G (p.Val1545=)
c.4188C>G (p.Val1396=)
c.3525C>G (p.Val1175=)
c.8040C>G (p.Val2680=)
5g.13770916G>TCA443535721DNAH5c.9438C>A (p.Val3146=)
c.9393C>A (p.Val3131=)
n.150C>A
c.9546C>A (p.Val3182=)
c.8451C>A (p.Val2817=)
c.4635C>A (p.Val1545=)
c.4188C>A (p.Val1396=)
c.3525C>A (p.Val1175=)
c.8040C>A (p.Val2680=)
5g.13770917A=CA1528431235DNAH5c.9437T= (p.Val3146=)
c.9392T= (p.Val3131=)
n.149T=
c.9545T= (p.Val3182=)
c.8450T= (p.Val2817=)
c.4634T= (p.Val1545=)
c.4187T= (p.Val1396=)
c.3524T= (p.Val1175=)
c.8039T= (p.Val2680=)
5g.13770917A>CCA359205057DNAH5c.9437T>G (p.Val3146Gly)
c.9392T>G (p.Val3131Gly)
n.149T>G
c.9545T>G (p.Val3182Gly)
c.8450T>G (p.Val2817Gly)
c.4634T>G (p.Val1545Gly)
c.4187T>G (p.Val1396Gly)
c.3524T>G (p.Val1175Gly)
c.8039T>G (p.Val2680Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.13770917A>GCA359205069DNAH5c.9437T>C (p.Val3146Ala)
c.9392T>C (p.Val3131Ala)
n.149T>C
c.9545T>C (p.Val3182Ala)
c.8450T>C (p.Val2817Ala)
c.4634T>C (p.Val1545Ala)
c.4187T>C (p.Val1396Ala)
c.3524T>C (p.Val1175Ala)
c.8039T>C (p.Val2680Ala)
5g.13770917A>TCA359205073DNAH5c.9437T>A (p.Val3146Asp)
c.9392T>A (p.Val3131Asp)
n.149T>A
c.9545T>A (p.Val3182Asp)
c.8450T>A (p.Val2817Asp)
c.4634T>A (p.Val1545Asp)
c.4187T>A (p.Val1396Asp)
c.3524T>A (p.Val1175Asp)
c.8039T>A (p.Val2680Asp)
5g.13770918C>ACA359205077DNAH5c.9436G>T (p.Val3146Phe)
c.9391G>T (p.Val3131Phe)
n.148G>T
c.9544G>T (p.Val3182Phe)
c.8449G>T (p.Val2817Phe)
c.4633G>T (p.Val1545Phe)
c.4186G>T (p.Val1396Phe)
c.3523G>T (p.Val1175Phe)
c.8038G>T (p.Val2680Phe)
5g.13770918C>GCA359205079DNAH5c.9436G>C (p.Val3146Leu)
c.9391G>C (p.Val3131Leu)
n.148G>C
c.9544G>C (p.Val3182Leu)
c.8449G>C (p.Val2817Leu)
c.4633G>C (p.Val1545Leu)
c.4186G>C (p.Val1396Leu)
c.3523G>C (p.Val1175Leu)
c.8038G>C (p.Val2680Leu)
5g.13770918C>TCA359205081DNAH5c.9436G>A (p.Val3146Ile)
c.9391G>A (p.Val3131Ile)
n.148G>A
c.9544G>A (p.Val3182Ile)
c.8449G>A (p.Val2817Ile)
c.4633G>A (p.Val1545Ile)
c.4186G>A (p.Val1396Ile)
c.3523G>A (p.Val1175Ile)
c.8038G>A (p.Val2680Ile)
 COSMIC
5g.13770919C>ACA443535731DNAH5c.9435G>T (p.Val3145=)
c.9390G>T (p.Val3130=)
n.147G>T
c.9543G>T (p.Val3181=)
c.8448G>T (p.Val2816=)
c.4632G>T (p.Val1544=)
c.4185G>T (p.Val1395=)
c.3522G>T (p.Val1174=)
c.8037G>T (p.Val2679=)
5g.13770919C>GCA443535734DNAH5c.9435G>C (p.Val3145=)
c.9390G>C (p.Val3130=)
n.147G>C
c.9543G>C (p.Val3181=)
c.8448G>C (p.Val2816=)
c.4632G>C (p.Val1544=)
c.4185G>C (p.Val1395=)
c.3522G>C (p.Val1174=)
c.8037G>C (p.Val2679=)
5g.13770919C>TCA443535737DNAH5c.9435G>A (p.Val3145=)
c.9390G>A (p.Val3130=)
n.147G>A
c.9543G>A (p.Val3181=)
c.8448G>A (p.Val2816=)
c.4632G>A (p.Val1544=)
c.4185G>A (p.Val1395=)
c.3522G>A (p.Val1174=)
c.8037G>A (p.Val2679=)
5g.13770920A>CCA359205092DNAH5c.9434T>G (p.Val3145Gly)
c.9389T>G (p.Val3130Gly)
n.146T>G
c.9542T>G (p.Val3181Gly)
c.8447T>G (p.Val2816Gly)
c.4631T>G (p.Val1544Gly)
c.4184T>G (p.Val1395Gly)
c.3521T>G (p.Val1174Gly)
c.8036T>G (p.Val2679Gly)
5g.13770920A>GCA359205086DNAH5c.9434T>C (p.Val3145Ala)
c.9389T>C (p.Val3130Ala)
n.146T>C
c.9542T>C (p.Val3181Ala)
c.8447T>C (p.Val2816Ala)
c.4631T>C (p.Val1544Ala)
c.4184T>C (p.Val1395Ala)
c.3521T>C (p.Val1174Ala)
c.8036T>C (p.Val2679Ala)
5g.13770920A>TCA359205088DNAH5c.9434T>A (p.Val3145Glu)
c.9389T>A (p.Val3130Glu)
n.146T>A
c.9542T>A (p.Val3181Glu)
c.8447T>A (p.Val2816Glu)
c.4631T>A (p.Val1544Glu)
c.4184T>A (p.Val1395Glu)
c.3521T>A (p.Val1174Glu)
c.8036T>A (p.Val2679Glu)
5g.13770921C>ACA359205095DNAH5c.9433G>T (p.Val3145Leu)
c.9388G>T (p.Val3130Leu)
n.145G>T
c.9541G>T (p.Val3181Leu)
c.8446G>T (p.Val2816Leu)
c.4630G>T (p.Val1544Leu)
c.4183G>T (p.Val1395Leu)
c.3520G>T (p.Val1174Leu)
c.8035G>T (p.Val2679Leu)
5g.13770921C>GCA359205100DNAH5c.9433G>C (p.Val3145Leu)
c.9388G>C (p.Val3130Leu)
n.145G>C
c.9541G>C (p.Val3181Leu)
c.8446G>C (p.Val2816Leu)
c.4630G>C (p.Val1544Leu)
c.4183G>C (p.Val1395Leu)
c.3520G>C (p.Val1174Leu)
c.8035G>C (p.Val2679Leu)
5g.13770921C>TCA359205102DNAH5c.9433G>A (p.Val3145Met)
c.9388G>A (p.Val3130Met)
n.145G>A
c.9541G>A (p.Val3181Met)
c.8446G>A (p.Val2816Met)
c.4630G>A (p.Val1544Met)
c.4183G>A (p.Val1395Met)
c.3520G>A (p.Val1174Met)
c.8035G>A (p.Val2679Met)
5g.13770922C>ACA359205105DNAH5c.9432G>T (p.Glu3144Asp)
c.9387G>T (p.Glu3129Asp)
n.144G>T
c.9540G>T (p.Glu3180Asp)
c.8445G>T (p.Glu2815Asp)
c.4629G>T (p.Glu1543Asp)
c.4182G>T (p.Glu1394Asp)
c.3519G>T (p.Glu1173Asp)
c.8034G>T (p.Glu2678Asp)
5g.13770922C=CA1528431236DNAH5c.9432G= (p.Glu3144=)
c.9387G= (p.Glu3129=)
n.144G=
c.9540G= (p.Glu3180=)
c.8445G= (p.Glu2815=)
c.4629G= (p.Glu1543=)
c.4182G= (p.Glu1394=)
c.3519G= (p.Glu1173=)
c.8034G= (p.Glu2678=)
5g.13770922C>GCA359205107DNAH5c.9432G>C (p.Glu3144Asp)
c.9387G>C (p.Glu3129Asp)
n.144G>C
c.9540G>C (p.Glu3180Asp)
c.8445G>C (p.Glu2815Asp)
c.4629G>C (p.Glu1543Asp)
c.4182G>C (p.Glu1394Asp)
c.3519G>C (p.Glu1173Asp)
c.8034G>C (p.Glu2678Asp)
5g.13770922C>TCA443535753DNAH5c.9432G>A (p.Glu3144=)
c.9387G>A (p.Glu3129=)
n.144G>A
c.9540G>A (p.Glu3180=)
c.8445G>A (p.Glu2815=)
c.4629G>A (p.Glu1543=)
c.4182G>A (p.Glu1394=)
c.3519G>A (p.Glu1173=)
c.8034G>A (p.Glu2678=)
 ClinVar dbSNP gnomAD v4
5g.13770923T>ACA359205110DNAH5c.9431A>T (p.Glu3144Val)
c.9386A>T (p.Glu3129Val)
n.143A>T
c.9539A>T (p.Glu3180Val)
c.8444A>T (p.Glu2815Val)
c.4628A>T (p.Glu1543Val)
c.4181A>T (p.Glu1394Val)
c.3518A>T (p.Glu1173Val)
c.8033A>T (p.Glu2678Val)
5g.13770923T>CCA359205114DNAH5c.9431A>G (p.Glu3144Gly)
c.9386A>G (p.Glu3129Gly)
n.143A>G
c.9539A>G (p.Glu3180Gly)
c.8444A>G (p.Glu2815Gly)
c.4628A>G (p.Glu1543Gly)
c.4181A>G (p.Glu1394Gly)
c.3518A>G (p.Glu1173Gly)
c.8033A>G (p.Glu2678Gly)
5g.13770923T>GCA359205112DNAH5c.9431A>C (p.Glu3144Ala)
c.9386A>C (p.Glu3129Ala)
n.143A>C
c.9539A>C (p.Glu3180Ala)
c.8444A>C (p.Glu2815Ala)
c.4628A>C (p.Glu1543Ala)
c.4181A>C (p.Glu1394Ala)
c.3518A>C (p.Glu1173Ala)
c.8033A>C (p.Glu2678Ala)
5g.13770924C>ACA359205117DNAH5c.9430G>T (p.Glu3144Ter)
c.9385G>T (p.Glu3129Ter)
n.142G>T
c.9538G>T (p.Glu3180Ter)
c.8443G>T (p.Glu2815Ter)
c.4627G>T (p.Glu1543Ter)
c.4180G>T (p.Glu1394Ter)
c.3517G>T (p.Glu1173Ter)
c.8032G>T (p.Glu2678Ter)
5g.13770924C>GCA359205120DNAH5c.9430G>C (p.Glu3144Gln)
c.9385G>C (p.Glu3129Gln)
n.142G>C
c.9538G>C (p.Glu3180Gln)
c.8443G>C (p.Glu2815Gln)
c.4627G>C (p.Glu1543Gln)
c.4180G>C (p.Glu1394Gln)
c.3517G>C (p.Glu1173Gln)
c.8032G>C (p.Glu2678Gln)
 dbSNP
5g.13770924C>TCA359205123DNAH5c.9430G>A (p.Glu3144Lys)
c.9385G>A (p.Glu3129Lys)
n.142G>A
c.9538G>A (p.Glu3180Lys)
c.8443G>A (p.Glu2815Lys)
c.4627G>A (p.Glu1543Lys)
c.4180G>A (p.Glu1394Lys)
c.3517G>A (p.Glu1173Lys)
c.8032G>A (p.Glu2678Lys)
 COSMIC
5g.13770925C>ACA3202544DNAH5c.9429G>T (p.Lys3143Asn)
c.9384G>T (p.Lys3128Asn)
n.141G>T
c.9537G>T (p.Lys3179Asn)
c.8442G>T (p.Lys2814Asn)
c.4626G>T (p.Lys1542Asn)
c.4179G>T (p.Lys1393Asn)
c.3516G>T (p.Lys1172Asn)
c.8031G>T (p.Lys2677Asn)
 dbSNP ExAC gnomAD v2
5g.13770925C=CA1528431237DNAH5c.9429G= (p.Lys3143=)
c.9384G= (p.Lys3128=)
n.141G=
c.9537G= (p.Lys3179=)
c.8442G= (p.Lys2814=)
c.4626G= (p.Lys1542=)
c.4179G= (p.Lys1393=)
c.3516G= (p.Lys1172=)
c.8031G= (p.Lys2677=)
5g.13770925C>GCA359205127DNAH5c.9429G>C (p.Lys3143Asn)
c.9384G>C (p.Lys3128Asn)
n.141G>C
c.9537G>C (p.Lys3179Asn)
c.8442G>C (p.Lys2814Asn)
c.4626G>C (p.Lys1542Asn)
c.4179G>C (p.Lys1393Asn)
c.3516G>C (p.Lys1172Asn)
c.8031G>C (p.Lys2677Asn)
5g.13770925C>TCA443535768DNAH5c.9429G>A (p.Lys3143=)
c.9384G>A (p.Lys3128=)
n.141G>A
c.9537G>A (p.Lys3179=)
c.8442G>A (p.Lys2814=)
c.4626G>A (p.Lys1542=)
c.4179G>A (p.Lys1393=)
c.3516G>A (p.Lys1172=)
c.8031G>A (p.Lys2677=)
 gnomAD v4
5g.13770926T>ACA359205131DNAH5c.9428A>T (p.Lys3143Met)
c.9383A>T (p.Lys3128Met)
n.140A>T
c.9536A>T (p.Lys3179Met)
c.8441A>T (p.Lys2814Met)
c.4625A>T (p.Lys1542Met)
c.4178A>T (p.Lys1393Met)
c.3515A>T (p.Lys1172Met)
c.8030A>T (p.Lys2677Met)
5g.13770926T>CCA359205133DNAH5c.9428A>G (p.Lys3143Arg)
c.9383A>G (p.Lys3128Arg)
n.140A>G
c.9536A>G (p.Lys3179Arg)
c.8441A>G (p.Lys2814Arg)
c.4625A>G (p.Lys1542Arg)
c.4178A>G (p.Lys1393Arg)
c.3515A>G (p.Lys1172Arg)
c.8030A>G (p.Lys2677Arg)
5g.13770926T>GCA359205136DNAH5c.9428A>C (p.Lys3143Thr)
c.9383A>C (p.Lys3128Thr)
n.140A>C
c.9536A>C (p.Lys3179Thr)
c.8441A>C (p.Lys2814Thr)
c.4625A>C (p.Lys1542Thr)
c.4178A>C (p.Lys1393Thr)
c.3515A>C (p.Lys1172Thr)
c.8030A>C (p.Lys2677Thr)
5g.13770927T>ACA3202545DNAH5c.9427A>T (p.Lys3143Ter)
c.9382A>T (p.Lys3128Ter)
n.139A>T
c.9535A>T (p.Lys3179Ter)
c.8440A>T (p.Lys2814Ter)
c.4624A>T (p.Lys1542Ter)
c.4177A>T (p.Lys1393Ter)
c.3514A>T (p.Lys1172Ter)
c.8029A>T (p.Lys2677Ter)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.13770927T>CCA359205139DNAH5c.9427A>G (p.Lys3143Glu)
c.9382A>G (p.Lys3128Glu)
n.139A>G
c.9535A>G (p.Lys3179Glu)
c.8440A>G (p.Lys2814Glu)
c.4624A>G (p.Lys1542Glu)
c.4177A>G (p.Lys1393Glu)
c.3514A>G (p.Lys1172Glu)
c.8029A>G (p.Lys2677Glu)
 dbSNP gnomAD v4
5g.13770927T>GCA359205141DNAH5c.9427A>C (p.Lys3143Gln)
c.9382A>C (p.Lys3128Gln)
n.139A>C
c.9535A>C (p.Lys3179Gln)
c.8440A>C (p.Lys2814Gln)
c.4624A>C (p.Lys1542Gln)
c.4177A>C (p.Lys1393Gln)
c.3514A>C (p.Lys1172Gln)
c.8029A>C (p.Lys2677Gln)
5g.13770927T=CA1528431238DNAH5c.9427A= (p.Lys3143=)
c.9382A= (p.Lys3128=)
n.139A=
c.9535A= (p.Lys3179=)
c.8440A= (p.Lys2814=)
c.4624A= (p.Lys1542=)
c.4177A= (p.Lys1393=)
c.3514A= (p.Lys1172=)
c.8029A= (p.Lys2677=)
5g.13770928C>ACA359205143DNAH5c.9426G>T (p.Lys3142Asn)
c.9381G>T (p.Lys3127Asn)
n.138G>T
c.9534G>T (p.Lys3178Asn)
c.8439G>T (p.Lys2813Asn)
c.4623G>T (p.Lys1541Asn)
c.4176G>T (p.Lys1392Asn)
c.3513G>T (p.Lys1171Asn)
c.8028G>T (p.Lys2676Asn)
5g.13770928C>GCA359205146DNAH5c.9426G>C (p.Lys3142Asn)
c.9381G>C (p.Lys3127Asn)
n.138G>C
c.9534G>C (p.Lys3178Asn)
c.8439G>C (p.Lys2813Asn)
c.4623G>C (p.Lys1541Asn)
c.4176G>C (p.Lys1392Asn)
c.3513G>C (p.Lys1171Asn)
c.8028G>C (p.Lys2676Asn)
5g.13770928C>TCA443535425DNAH5c.9426G>A (p.Lys3142=)
c.9381G>A (p.Lys3127=)
n.138G>A
c.9534G>A (p.Lys3178=)
c.8439G>A (p.Lys2813=)
c.4623G>A (p.Lys1541=)
c.4176G>A (p.Lys1392=)
c.3513G>A (p.Lys1171=)
c.8028G>A (p.Lys2676=)
5g.13770929T>ACA359205148DNAH5c.9425A>T (p.Lys3142Met)
c.9380A>T (p.Lys3127Met)
n.137A>T
c.9533A>T (p.Lys3178Met)
c.8438A>T (p.Lys2813Met)
c.4622A>T (p.Lys1541Met)
c.4175A>T (p.Lys1392Met)
c.3512A>T (p.Lys1171Met)
c.8027A>T (p.Lys2676Met)
5g.13770929T>CCA359205153DNAH5c.9425A>G (p.Lys3142Arg)
c.9380A>G (p.Lys3127Arg)
n.137A>G
c.9533A>G (p.Lys3178Arg)
c.8438A>G (p.Lys2813Arg)
c.4622A>G (p.Lys1541Arg)
c.4175A>G (p.Lys1392Arg)
c.3512A>G (p.Lys1171Arg)
c.8027A>G (p.Lys2676Arg)
5g.13770929T>GCA359205150DNAH5c.9425A>C (p.Lys3142Thr)
c.9380A>C (p.Lys3127Thr)
n.137A>C
c.9533A>C (p.Lys3178Thr)
c.8438A>C (p.Lys2813Thr)
c.4622A>C (p.Lys1541Thr)
c.4175A>C (p.Lys1392Thr)
c.3512A>C (p.Lys1171Thr)
c.8027A>C (p.Lys2676Thr)
 COSMIC
5g.13770930T>ACA359205156DNAH5c.9424A>T (p.Lys3142Ter)
c.9379A>T (p.Lys3127Ter)
n.136A>T
c.9532A>T (p.Lys3178Ter)
c.8437A>T (p.Lys2813Ter)
c.4621A>T (p.Lys1541Ter)
c.4174A>T (p.Lys1392Ter)
c.3511A>T (p.Lys1171Ter)
c.8026A>T (p.Lys2676Ter)
5g.13770930T>CCA359205159DNAH5c.9424A>G (p.Lys3142Glu)
c.9379A>G (p.Lys3127Glu)
n.136A>G
c.9532A>G (p.Lys3178Glu)
c.8437A>G (p.Lys2813Glu)
c.4621A>G (p.Lys1541Glu)
c.4174A>G (p.Lys1392Glu)
c.3511A>G (p.Lys1171Glu)
c.8026A>G (p.Lys2676Glu)
 dbSNP gnomAD v4
5g.13770930T>GCA359205157DNAH5c.9424A>C (p.Lys3142Gln)
c.9379A>C (p.Lys3127Gln)
n.136A>C
c.9532A>C (p.Lys3178Gln)
c.8437A>C (p.Lys2813Gln)
c.4621A>C (p.Lys1541Gln)
c.4174A>C (p.Lys1392Gln)
c.3511A>C (p.Lys1171Gln)
c.8026A>C (p.Lys2676Gln)
5g.13770930T=CA1528431239DNAH5c.9424A= (p.Lys3142=)
c.9379A= (p.Lys3127=)
n.136A=
c.9532A= (p.Lys3178=)
c.8437A= (p.Lys2813=)
c.4621A= (p.Lys1541=)
c.4174A= (p.Lys1392=)
c.3511A= (p.Lys1171=)
c.8026A= (p.Lys2676=)
5g.13770931G>ACA443535427DNAH5c.9423C>T (p.Ile3141=)
c.9378C>T (p.Ile3126=)
n.135C>T
c.9531C>T (p.Ile3177=)
c.8436C>T (p.Ile2812=)
c.4620C>T (p.Ile1540=)
c.4173C>T (p.Ile1391=)
c.3510C>T (p.Ile1170=)
c.8025C>T (p.Ile2675=)
5g.13770931G>CCA359205162DNAH5c.9423C>G (p.Ile3141Met)
c.9378C>G (p.Ile3126Met)
n.135C>G
c.9531C>G (p.Ile3177Met)
c.8436C>G (p.Ile2812Met)
c.4620C>G (p.Ile1540Met)
c.4173C>G (p.Ile1391Met)
c.3510C>G (p.Ile1170Met)
c.8025C>G (p.Ile2675Met)
5g.13770931G>TCA443535426DNAH5c.9423C>A (p.Ile3141=)
c.9378C>A (p.Ile3126=)
n.135C>A
c.9531C>A (p.Ile3177=)
c.8436C>A (p.Ile2812=)
c.4620C>A (p.Ile1540=)
c.4173C>A (p.Ile1391=)
c.3510C>A (p.Ile1170=)
c.8025C>A (p.Ile2675=)
 ClinVar dbSNP
5g.13770932A>CCA359205164DNAH5c.9422T>G (p.Ile3141Ser)
c.9377T>G (p.Ile3126Ser)
n.134T>G
c.9530T>G (p.Ile3177Ser)
c.8435T>G (p.Ile2812Ser)
c.4619T>G (p.Ile1540Ser)
c.4172T>G (p.Ile1391Ser)
c.3509T>G (p.Ile1170Ser)
c.8024T>G (p.Ile2675Ser)
5g.13770932A>GCA359205168DNAH5c.9422T>C (p.Ile3141Thr)
c.9377T>C (p.Ile3126Thr)
n.134T>C
c.9530T>C (p.Ile3177Thr)
c.8435T>C (p.Ile2812Thr)
c.4619T>C (p.Ile1540Thr)
c.4172T>C (p.Ile1391Thr)
c.3509T>C (p.Ile1170Thr)
c.8024T>C (p.Ile2675Thr)
5g.13770932A>TCA359205171DNAH5c.9422T>A (p.Ile3141Asn)
c.9377T>A (p.Ile3126Asn)
n.134T>A
c.9530T>A (p.Ile3177Asn)
c.8435T>A (p.Ile2812Asn)
c.4619T>A (p.Ile1540Asn)
c.4172T>A (p.Ile1391Asn)
c.3509T>A (p.Ile1170Asn)
c.8024T>A (p.Ile2675Asn)
5g.13770933T>ACA359205174DNAH5c.9421A>T (p.Ile3141Phe)
c.9376A>T (p.Ile3126Phe)
n.133A>T
c.9529A>T (p.Ile3177Phe)
c.8434A>T (p.Ile2812Phe)
c.4618A>T (p.Ile1540Phe)
c.4171A>T (p.Ile1391Phe)
c.3508A>T (p.Ile1170Phe)
c.8023A>T (p.Ile2675Phe)
5g.13770933T>CCA3202546DNAH5c.9421A>G (p.Ile3141Val)
c.9376A>G (p.Ile3126Val)
n.133A>G
c.9529A>G (p.Ile3177Val)
c.8434A>G (p.Ile2812Val)
c.4618A>G (p.Ile1540Val)
c.4171A>G (p.Ile1391Val)
c.3508A>G (p.Ile1170Val)
c.8023A>G (p.Ile2675Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770933T>GCA359205182DNAH5c.9421A>C (p.Ile3141Leu)
c.9376A>C (p.Ile3126Leu)
n.133A>C
c.9529A>C (p.Ile3177Leu)
c.8434A>C (p.Ile2812Leu)
c.4618A>C (p.Ile1540Leu)
c.4171A>C (p.Ile1391Leu)
c.3508A>C (p.Ile1170Leu)
c.8023A>C (p.Ile2675Leu)
5g.13770933T=CA1528431240DNAH5c.9421A= (p.Ile3141=)
c.9376A= (p.Ile3126=)
n.133A=
c.9529A= (p.Ile3177=)
c.8434A= (p.Ile2812=)
c.4618A= (p.Ile1540=)
c.4171A= (p.Ile1391=)
c.3508A= (p.Ile1170=)
c.8023A= (p.Ile2675=)
5g.13770934T>ACA359205184DNAH5c.9420A>T (p.Glu3140Asp)
c.9375A>T (p.Glu3125Asp)
n.132A>T
c.9528A>T (p.Glu3176Asp)
c.8433A>T (p.Glu2811Asp)
c.4617A>T (p.Glu1539Asp)
c.4170A>T (p.Glu1390Asp)
c.3507A>T (p.Glu1169Asp)
c.8022A>T (p.Glu2674Asp)
5g.13770934T>CCA443535428DNAH5c.9420A>G (p.Glu3140=)
c.9375A>G (p.Glu3125=)
n.132A>G
c.9528A>G (p.Glu3176=)
c.8433A>G (p.Glu2811=)
c.4617A>G (p.Glu1539=)
c.4170A>G (p.Glu1390=)
c.3507A>G (p.Glu1169=)
c.8022A>G (p.Glu2674=)
 ClinVar gnomAD v4
5g.13770934T>GCA359205187DNAH5c.9420A>C (p.Glu3140Asp)
c.9375A>C (p.Glu3125Asp)
n.132A>C
c.9528A>C (p.Glu3176Asp)
c.8433A>C (p.Glu2811Asp)
c.4617A>C (p.Glu1539Asp)
c.4170A>C (p.Glu1390Asp)
c.3507A>C (p.Glu1169Asp)
c.8022A>C (p.Glu2674Asp)
5g.13770935T>ACA359205189DNAH5c.9419A>T (p.Glu3140Val)
c.9374A>T (p.Glu3125Val)
n.131A>T
c.9527A>T (p.Glu3176Val)
c.8432A>T (p.Glu2811Val)
c.4616A>T (p.Glu1539Val)
c.4169A>T (p.Glu1390Val)
c.3506A>T (p.Glu1169Val)
c.8021A>T (p.Glu2674Val)
5g.13770935T>CCA359205191DNAH5c.9419A>G (p.Glu3140Gly)
c.9374A>G (p.Glu3125Gly)
n.131A>G
c.9527A>G (p.Glu3176Gly)
c.8432A>G (p.Glu2811Gly)
c.4616A>G (p.Glu1539Gly)
c.4169A>G (p.Glu1390Gly)
c.3506A>G (p.Glu1169Gly)
c.8021A>G (p.Glu2674Gly)
5g.13770935T>GCA359205193DNAH5c.9419A>C (p.Glu3140Ala)
c.9374A>C (p.Glu3125Ala)
n.131A>C
c.9527A>C (p.Glu3176Ala)
c.8432A>C (p.Glu2811Ala)
c.4616A>C (p.Glu1539Ala)
c.4169A>C (p.Glu1390Ala)
c.3506A>C (p.Glu1169Ala)
c.8021A>C (p.Glu2674Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.13770935T=CA1528431241DNAH5c.9419A= (p.Glu3140=)
c.9374A= (p.Glu3125=)
n.131A=
c.9527A= (p.Glu3176=)
c.8432A= (p.Glu2811=)
c.4616A= (p.Glu1539=)
c.4169A= (p.Glu1390=)
c.3506A= (p.Glu1169=)
c.8021A= (p.Glu2674=)
5g.13770936C>ACA359205195DNAH5c.9418G>T (p.Glu3140Ter)
c.9373G>T (p.Glu3125Ter)
n.130G>T
c.9526G>T (p.Glu3176Ter)
c.8431G>T (p.Glu2811Ter)
c.4615G>T (p.Glu1539Ter)
c.4168G>T (p.Glu1390Ter)
c.3505G>T (p.Glu1169Ter)
c.8020G>T (p.Glu2674Ter)
5g.13770936C=CA1528431242DNAH5c.9418G= (p.Glu3140=)
c.9373G= (p.Glu3125=)
n.130G=
c.9526G= (p.Glu3176=)
c.8431G= (p.Glu2811=)
c.4615G= (p.Glu1539=)
c.4168G= (p.Glu1390=)
c.3505G= (p.Glu1169=)
c.8020G= (p.Glu2674=)
5g.13770936C>GCA3202547DNAH5c.9418G>C (p.Glu3140Gln)
c.9373G>C (p.Glu3125Gln)
n.130G>C
c.9526G>C (p.Glu3176Gln)
c.8431G>C (p.Glu2811Gln)
c.4615G>C (p.Glu1539Gln)
c.4168G>C (p.Glu1390Gln)
c.3505G>C (p.Glu1169Gln)
c.8020G>C (p.Glu2674Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770936C>TCA359205199DNAH5c.9418G>A (p.Glu3140Lys)
c.9373G>A (p.Glu3125Lys)
n.130G>A
c.9526G>A (p.Glu3176Lys)
c.8431G>A (p.Glu2811Lys)
c.4615G>A (p.Glu1539Lys)
c.4168G>A (p.Glu1390Lys)
c.3505G>A (p.Glu1169Lys)
c.8020G>A (p.Glu2674Lys)
 gnomAD v4 COSMIC
5g.13770937C>ACA359205209DNAH5c.9417G>T (p.Leu3139Phe)
c.9372G>T (p.Leu3124Phe)
n.129G>T
c.9525G>T (p.Leu3175Phe)
c.8430G>T (p.Leu2810Phe)
c.4614G>T (p.Leu1538Phe)
c.4167G>T (p.Leu1389Phe)
c.3504G>T (p.Leu1168Phe)
c.8019G>T (p.Leu2673Phe)
5g.13770937C>GCA359205212DNAH5c.9417G>C (p.Leu3139Phe)
c.9372G>C (p.Leu3124Phe)
n.129G>C
c.9525G>C (p.Leu3175Phe)
c.8430G>C (p.Leu2810Phe)
c.4614G>C (p.Leu1538Phe)
c.4167G>C (p.Leu1389Phe)
c.3504G>C (p.Leu1168Phe)
c.8019G>C (p.Leu2673Phe)
5g.13770937C>TCA443535429DNAH5c.9417G>A (p.Leu3139=)
c.9372G>A (p.Leu3124=)
n.129G>A
c.9525G>A (p.Leu3175=)
c.8430G>A (p.Leu2810=)
c.4614G>A (p.Leu1538=)
c.4167G>A (p.Leu1389=)
c.3504G>A (p.Leu1168=)
c.8019G>A (p.Leu2673=)
5g.13770938A>CCA359205216DNAH5c.9416T>G (p.Leu3139Trp)
c.9371T>G (p.Leu3124Trp)
n.128T>G
c.9524T>G (p.Leu3175Trp)
c.8429T>G (p.Leu2810Trp)
c.4613T>G (p.Leu1538Trp)
c.4166T>G (p.Leu1389Trp)
c.3503T>G (p.Leu1168Trp)
c.8018T>G (p.Leu2673Trp)
5g.13770938A>GCA359205219DNAH5c.9416T>C (p.Leu3139Ser)
c.9371T>C (p.Leu3124Ser)
n.128T>C
c.9524T>C (p.Leu3175Ser)
c.8429T>C (p.Leu2810Ser)
c.4613T>C (p.Leu1538Ser)
c.4166T>C (p.Leu1389Ser)
c.3503T>C (p.Leu1168Ser)
c.8018T>C (p.Leu2673Ser)
5g.13770938A>TCA359205221DNAH5c.9416T>A (p.Leu3139Ter)
c.9371T>A (p.Leu3124Ter)
n.128T>A
c.9524T>A (p.Leu3175Ter)
c.8429T>A (p.Leu2810Ter)
c.4613T>A (p.Leu1538Ter)
c.4166T>A (p.Leu1389Ter)
c.3503T>A (p.Leu1168Ter)
c.8018T>A (p.Leu2673Ter)
5g.13770939A>CCA359205224DNAH5c.9415T>G (p.Leu3139Val)
c.9370T>G (p.Leu3124Val)
n.127T>G
c.9523T>G (p.Leu3175Val)
c.8428T>G (p.Leu2810Val)
c.4612T>G (p.Leu1538Val)
c.4165T>G (p.Leu1389Val)
c.3502T>G (p.Leu1168Val)
c.8017T>G (p.Leu2673Val)
5g.13770939A>GCA443535430DNAH5c.9415T>C (p.Leu3139=)
c.9370T>C (p.Leu3124=)
n.127T>C
c.9523T>C (p.Leu3175=)
c.8428T>C (p.Leu2810=)
c.4612T>C (p.Leu1538=)
c.4165T>C (p.Leu1389=)
c.3502T>C (p.Leu1168=)
c.8017T>C (p.Leu2673=)
5g.13770939A>TCA359205227DNAH5c.9415T>A (p.Leu3139Met)
c.9370T>A (p.Leu3124Met)
n.127T>A
c.9523T>A (p.Leu3175Met)
c.8428T>A (p.Leu2810Met)
c.4612T>A (p.Leu1538Met)
c.4165T>A (p.Leu1389Met)
c.3502T>A (p.Leu1168Met)
c.8017T>A (p.Leu2673Met)
5g.13770940A>CCA359205230DNAH5c.9414T>G (p.Ser3138Arg)
c.9369T>G (p.Ser3123Arg)
n.126T>G
c.9522T>G (p.Ser3174Arg)
c.8427T>G (p.Ser2809Arg)
c.4611T>G (p.Ser1537Arg)
c.4164T>G (p.Ser1388Arg)
c.3501T>G (p.Ser1167Arg)
c.8016T>G (p.Ser2672Arg)
5g.13770940A>GCA443535431DNAH5c.9414T>C (p.Ser3138=)
c.9369T>C (p.Ser3123=)
n.126T>C
c.9522T>C (p.Ser3174=)
c.8427T>C (p.Ser2809=)
c.4611T>C (p.Ser1537=)
c.4164T>C (p.Ser1388=)
c.3501T>C (p.Ser1167=)
c.8016T>C (p.Ser2672=)
5g.13770940A>TCA359205232DNAH5c.9414T>A (p.Ser3138Arg)
c.9369T>A (p.Ser3123Arg)
n.126T>A
c.9522T>A (p.Ser3174Arg)
c.8427T>A (p.Ser2809Arg)
c.4611T>A (p.Ser1537Arg)
c.4164T>A (p.Ser1388Arg)
c.3501T>A (p.Ser1167Arg)
c.8016T>A (p.Ser2672Arg)
5g.13770941C>ACA359205237DNAH5c.9413G>T (p.Ser3138Ile)
c.9368G>T (p.Ser3123Ile)
n.125G>T
c.9521G>T (p.Ser3174Ile)
c.8426G>T (p.Ser2809Ile)
c.4610G>T (p.Ser1537Ile)
c.4163G>T (p.Ser1388Ile)
c.3500G>T (p.Ser1167Ile)
c.8015G>T (p.Ser2672Ile)
5g.13770941C>GCA359205239DNAH5c.9413G>C (p.Ser3138Thr)
c.9368G>C (p.Ser3123Thr)
n.125G>C
c.9521G>C (p.Ser3174Thr)
c.8426G>C (p.Ser2809Thr)
c.4610G>C (p.Ser1537Thr)
c.4163G>C (p.Ser1388Thr)
c.3500G>C (p.Ser1167Thr)
c.8015G>C (p.Ser2672Thr)
5g.13770941C>TCA359205235DNAH5c.9413G>A (p.Ser3138Asn)
c.9368G>A (p.Ser3123Asn)
n.125G>A
c.9521G>A (p.Ser3174Asn)
c.8426G>A (p.Ser2809Asn)
c.4610G>A (p.Ser1537Asn)
c.4163G>A (p.Ser1388Asn)
c.3500G>A (p.Ser1167Asn)
c.8015G>A (p.Ser2672Asn)
 COSMIC
5g.13770942T>ACA359205241DNAH5c.9412A>T (p.Ser3138Cys)
c.9367A>T (p.Ser3123Cys)
n.124A>T
c.9520A>T (p.Ser3174Cys)
c.8425A>T (p.Ser2809Cys)
c.4609A>T (p.Ser1537Cys)
c.4162A>T (p.Ser1388Cys)
c.3499A>T (p.Ser1167Cys)
c.8014A>T (p.Ser2672Cys)
5g.13770942T>CCA359205243DNAH5c.9412A>G (p.Ser3138Gly)
c.9367A>G (p.Ser3123Gly)
n.124A>G
c.9520A>G (p.Ser3174Gly)
c.8425A>G (p.Ser2809Gly)
c.4609A>G (p.Ser1537Gly)
c.4162A>G (p.Ser1388Gly)
c.3499A>G (p.Ser1167Gly)
c.8014A>G (p.Ser2672Gly)
 gnomAD v4
5g.13770942T>GCA359205245DNAH5c.9412A>C (p.Ser3138Arg)
c.9367A>C (p.Ser3123Arg)
n.124A>C
c.9520A>C (p.Ser3174Arg)
c.8425A>C (p.Ser2809Arg)
c.4609A>C (p.Ser1537Arg)
c.4162A>C (p.Ser1388Arg)
c.3499A>C (p.Ser1167Arg)
c.8014A>C (p.Ser2672Arg)
5g.13770943G>ACA443535432DNAH5c.9411C>T (p.Cys3137=)
c.9366C>T (p.Cys3122=)
n.123C>T
c.9519C>T (p.Cys3173=)
c.8424C>T (p.Cys2808=)
c.4608C>T (p.Cys1536=)
c.4161C>T (p.Cys1387=)
c.3498C>T (p.Cys1166=)
c.8013C>T (p.Cys2671=)
 ClinVar gnomAD v4
5g.13770943G>CCA359205248DNAH5c.9411C>G (p.Cys3137Trp)
c.9366C>G (p.Cys3122Trp)
n.123C>G
c.9519C>G (p.Cys3173Trp)
c.8424C>G (p.Cys2808Trp)
c.4608C>G (p.Cys1536Trp)
c.4161C>G (p.Cys1387Trp)
c.3498C>G (p.Cys1166Trp)
c.8013C>G (p.Cys2671Trp)
5g.13770943G>TCA359205251DNAH5c.9411C>A (p.Cys3137Ter)
c.9366C>A (p.Cys3122Ter)
n.123C>A
c.9519C>A (p.Cys3173Ter)
c.8424C>A (p.Cys2808Ter)
c.4608C>A (p.Cys1536Ter)
c.4161C>A (p.Cys1387Ter)
c.3498C>A (p.Cys1166Ter)
c.8013C>A (p.Cys2671Ter)
5g.13770944C>ACA3202549DNAH5c.9410G>T (p.Cys3137Phe)
c.9365G>T (p.Cys3122Phe)
n.122G>T
c.9518G>T (p.Cys3173Phe)
c.8423G>T (p.Cys2808Phe)
c.4607G>T (p.Cys1536Phe)
c.4160G>T (p.Cys1387Phe)
c.3497G>T (p.Cys1166Phe)
c.8012G>T (p.Cys2671Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770944C=CA1528431243DNAH5c.9410G= (p.Cys3137=)
c.9365G= (p.Cys3122=)
n.122G=
c.9518G= (p.Cys3173=)
c.8423G= (p.Cys2808=)
c.4607G= (p.Cys1536=)
c.4160G= (p.Cys1387=)
c.3497G= (p.Cys1166=)
c.8012G= (p.Cys2671=)
5g.13770944C>GCA359205256DNAH5c.9410G>C (p.Cys3137Ser)
c.9365G>C (p.Cys3122Ser)
n.122G>C
c.9518G>C (p.Cys3173Ser)
c.8423G>C (p.Cys2808Ser)
c.4607G>C (p.Cys1536Ser)
c.4160G>C (p.Cys1387Ser)
c.3497G>C (p.Cys1166Ser)
c.8012G>C (p.Cys2671Ser)
5g.13770944C>TCA3202548DNAH5c.9410G>A (p.Cys3137Tyr)
c.9365G>A (p.Cys3122Tyr)
n.122G>A
c.9518G>A (p.Cys3173Tyr)
c.8423G>A (p.Cys2808Tyr)
c.4607G>A (p.Cys1536Tyr)
c.4160G>A (p.Cys1387Tyr)
c.3497G>A (p.Cys1166Tyr)
c.8012G>A (p.Cys2671Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770945A>CCA359205261DNAH5c.9409T>G (p.Cys3137Gly)
c.9364T>G (p.Cys3122Gly)
n.121T>G
c.9517T>G (p.Cys3173Gly)
c.8422T>G (p.Cys2808Gly)
c.4606T>G (p.Cys1536Gly)
c.4159T>G (p.Cys1387Gly)
c.3496T>G (p.Cys1166Gly)
c.8011T>G (p.Cys2671Gly)
5g.13770945A>GCA359205264DNAH5c.9409T>C (p.Cys3137Arg)
c.9364T>C (p.Cys3122Arg)
n.121T>C
c.9517T>C (p.Cys3173Arg)
c.8422T>C (p.Cys2808Arg)
c.4606T>C (p.Cys1536Arg)
c.4159T>C (p.Cys1387Arg)
c.3496T>C (p.Cys1166Arg)
c.8011T>C (p.Cys2671Arg)
 gnomAD v4
5g.13770945A>TCA359205265DNAH5c.9409T>A (p.Cys3137Ser)
c.9364T>A (p.Cys3122Ser)
n.121T>A
c.9517T>A (p.Cys3173Ser)
c.8422T>A (p.Cys2808Ser)
c.4606T>A (p.Cys1536Ser)
c.4159T>A (p.Cys1387Ser)
c.3496T>A (p.Cys1166Ser)
c.8011T>A (p.Cys2671Ser)
5g.13770946G>ACA443535433DNAH5c.9408C>T (p.Asp3136=)
c.9363C>T (p.Asp3121=)
n.120C>T
c.9516C>T (p.Asp3172=)
c.8421C>T (p.Asp2807=)
c.4605C>T (p.Asp1535=)
c.4158C>T (p.Asp1386=)
c.3495C>T (p.Asp1165=)
c.8010C>T (p.Asp2670=)
 dbSNP gnomAD v2 gnomAD v4
5g.13770946G>CCA359205267DNAH5c.9408C>G (p.Asp3136Glu)
c.9363C>G (p.Asp3121Glu)
n.120C>G
c.9516C>G (p.Asp3172Glu)
c.8421C>G (p.Asp2807Glu)
c.4605C>G (p.Asp1535Glu)
c.4158C>G (p.Asp1386Glu)
c.3495C>G (p.Asp1165Glu)
c.8010C>G (p.Asp2670Glu)
5g.13770946G=CA1528431244DNAH5c.9408C= (p.Asp3136=)
c.9363C= (p.Asp3121=)
n.120C=
c.9516C= (p.Asp3172=)
c.8421C= (p.Asp2807=)
c.4605C= (p.Asp1535=)
c.4158C= (p.Asp1386=)
c.3495C= (p.Asp1165=)
c.8010C= (p.Asp2670=)
5g.13770946G>TCA359205270DNAH5c.9408C>A (p.Asp3136Glu)
c.9363C>A (p.Asp3121Glu)
n.120C>A
c.9516C>A (p.Asp3172Glu)
c.8421C>A (p.Asp2807Glu)
c.4605C>A (p.Asp1535Glu)
c.4158C>A (p.Asp1386Glu)
c.3495C>A (p.Asp1165Glu)
c.8010C>A (p.Asp2670Glu)
5g.13770947T>ACA359205279DNAH5c.9407A>T (p.Asp3136Val)
c.9362A>T (p.Asp3121Val)
n.119A>T
c.9515A>T (p.Asp3172Val)
c.8420A>T (p.Asp2807Val)
c.4604A>T (p.Asp1535Val)
c.4157A>T (p.Asp1386Val)
c.3494A>T (p.Asp1165Val)
c.8009A>T (p.Asp2670Val)
5g.13770947T>CCA359205276DNAH5c.9407A>G (p.Asp3136Gly)
c.9362A>G (p.Asp3121Gly)
n.119A>G
c.9515A>G (p.Asp3172Gly)
c.8420A>G (p.Asp2807Gly)
c.4604A>G (p.Asp1535Gly)
c.4157A>G (p.Asp1386Gly)
c.3494A>G (p.Asp1165Gly)
c.8009A>G (p.Asp2670Gly)
 gnomAD v4
5g.13770947T>GCA3202550DNAH5c.9407A>C (p.Asp3136Ala)
c.9362A>C (p.Asp3121Ala)
n.119A>C
c.9515A>C (p.Asp3172Ala)
c.8420A>C (p.Asp2807Ala)
c.4604A>C (p.Asp1535Ala)
c.4157A>C (p.Asp1386Ala)
c.3494A>C (p.Asp1165Ala)
c.8009A>C (p.Asp2670Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770947T=CA1528431245DNAH5c.9407A= (p.Asp3136=)
c.9362A= (p.Asp3121=)
n.119A=
c.9515A= (p.Asp3172=)
c.8420A= (p.Asp2807=)
c.4604A= (p.Asp1535=)
c.4157A= (p.Asp1386=)
c.3494A= (p.Asp1165=)
c.8009A= (p.Asp2670=)
5g.13770948C>ACA359205283DNAH5c.9406G>T (p.Asp3136Tyr)
c.9361G>T (p.Asp3121Tyr)
n.118G>T
c.9514G>T (p.Asp3172Tyr)
c.8419G>T (p.Asp2807Tyr)
c.4603G>T (p.Asp1535Tyr)
c.4156G>T (p.Asp1386Tyr)
c.3493G>T (p.Asp1165Tyr)
c.8008G>T (p.Asp2670Tyr)
5g.13770948C>GCA359205284DNAH5c.9406G>C (p.Asp3136His)
c.9361G>C (p.Asp3121His)
n.118G>C
c.9514G>C (p.Asp3172His)
c.8419G>C (p.Asp2807His)
c.4603G>C (p.Asp1535His)
c.4156G>C (p.Asp1386His)
c.3493G>C (p.Asp1165His)
c.8008G>C (p.Asp2670His)
5g.13770948C>TCA359205286DNAH5c.9406G>A (p.Asp3136Asn)
c.9361G>A (p.Asp3121Asn)
n.118G>A
c.9514G>A (p.Asp3172Asn)
c.8419G>A (p.Asp2807Asn)
c.4603G>A (p.Asp1535Asn)
c.4156G>A (p.Asp1386Asn)
c.3493G>A (p.Asp1165Asn)
c.8008G>A (p.Asp2670Asn)
5g.13770949A>CCA359205287DNAH5c.9405T>G (p.Ile3135Met)
c.9360T>G (p.Ile3120Met)
n.117T>G
c.9513T>G (p.Ile3171Met)
c.8418T>G (p.Ile2806Met)
c.4602T>G (p.Ile1534Met)
c.4155T>G (p.Ile1385Met)
c.3492T>G (p.Ile1164Met)
c.8007T>G (p.Ile2669Met)
5g.13770949A>GCA443535436DNAH5c.9405T>C (p.Ile3135=)
c.9360T>C (p.Ile3120=)
n.117T>C
c.9513T>C (p.Ile3171=)
c.8418T>C (p.Ile2806=)
c.4602T>C (p.Ile1534=)
c.4155T>C (p.Ile1385=)
c.3492T>C (p.Ile1164=)
c.8007T>C (p.Ile2669=)
5g.13770949A>TCA443535437DNAH5c.9405T>A (p.Ile3135=)
c.9360T>A (p.Ile3120=)
n.117T>A
c.9513T>A (p.Ile3171=)
c.8418T>A (p.Ile2806=)
c.4602T>A (p.Ile1534=)
c.4155T>A (p.Ile1385=)
c.3492T>A (p.Ile1164=)
c.8007T>A (p.Ile2669=)
5g.13770950delCA2673268303DNAH5c.9405del (p.Ile3135MetfsTer?)
c.9360del (p.Ile3120MetfsTer?)
n.117del
c.9513del (p.Ile3171MetfsTer?)
c.8418del (p.Ile2806MetfsTer?)
c.4602del (p.Ile1534MetfsTer?)
c.4155del (p.Ile1385MetfsTer?)
c.3492del (p.Ile1164MetfsTer?)
c.8007del (p.Ile2669MetfsTer?)
 gnomAD v4
5g.13770949_13770953delinsAATATCA1528431246DNAH5c.9401_9405delinsATATT (p.Asp3134=)
c.9356_9360delinsATATT (p.Asp3119=)
n.113_117delinsATATT
c.9509_9513delinsATATT (p.Asp3170=)
c.8414_8418delinsATATT (p.Asp2805=)
c.4598_4602delinsATATT (p.Asp1533=)
c.4151_4155delinsATATT (p.Asp1384=)
c.3488_3492delinsATATT (p.Asp1163=)
c.8003_8007delinsATATT (p.Asp2668=)
5g.13770950A=CA1528431248DNAH5c.9404T= (p.Ile3135=)
c.9359T= (p.Ile3120=)
n.116T=
c.9512T= (p.Ile3171=)
c.8417T= (p.Ile2806=)
c.4601T= (p.Ile1534=)
c.4154T= (p.Ile1385=)
c.3491T= (p.Ile1164=)
c.8006T= (p.Ile2669=)
5g.13770950A>CCA359205289DNAH5c.9404T>G (p.Ile3135Ser)
c.9359T>G (p.Ile3120Ser)
n.116T>G
c.9512T>G (p.Ile3171Ser)
c.8417T>G (p.Ile2806Ser)
c.4601T>G (p.Ile1534Ser)
c.4154T>G (p.Ile1385Ser)
c.3491T>G (p.Ile1164Ser)
c.8006T>G (p.Ile2669Ser)
5g.13770950A>GCA3202551DNAH5c.9404T>C (p.Ile3135Thr)
c.9359T>C (p.Ile3120Thr)
n.116T>C
c.9512T>C (p.Ile3171Thr)
c.8417T>C (p.Ile2806Thr)
c.4601T>C (p.Ile1534Thr)
c.4154T>C (p.Ile1385Thr)
c.3491T>C (p.Ile1164Thr)
c.8006T>C (p.Ile2669Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770950A>TCA359205292DNAH5c.9404T>A (p.Ile3135Asn)
c.9359T>A (p.Ile3120Asn)
n.116T>A
c.9512T>A (p.Ile3171Asn)
c.8417T>A (p.Ile2806Asn)
c.4601T>A (p.Ile1534Asn)
c.4154T>A (p.Ile1385Asn)
c.3491T>A (p.Ile1164Asn)
c.8006T>A (p.Ile2669Asn)
5g.13770950_13770953delCA1528431247DNAH5c.9401_9404del (p.Asp3134ValfsTer?)
c.9356_9359del (p.Asp3119ValfsTer?)
n.113_116del
c.9509_9512del (p.Asp3170ValfsTer?)
c.8414_8417del (p.Asp2805ValfsTer?)
c.4598_4601del (p.Asp1533ValfsTer?)
c.4151_4154del (p.Asp1384ValfsTer?)
c.3488_3491del (p.Asp1163ValfsTer?)
c.8003_8006del (p.Asp2668ValfsTer?)
 dbSNP
5g.13770951T>ACA359205294DNAH5c.9403A>T (p.Ile3135Phe)
c.9358A>T (p.Ile3120Phe)
n.115A>T
c.9511A>T (p.Ile3171Phe)
c.8416A>T (p.Ile2806Phe)
c.4600A>T (p.Ile1534Phe)
c.4153A>T (p.Ile1385Phe)
c.3490A>T (p.Ile1164Phe)
c.8005A>T (p.Ile2669Phe)
5g.13770951T>CCA359205295DNAH5c.9403A>G (p.Ile3135Val)
c.9358A>G (p.Ile3120Val)
n.115A>G
c.9511A>G (p.Ile3171Val)
c.8416A>G (p.Ile2806Val)
c.4600A>G (p.Ile1534Val)
c.4153A>G (p.Ile1385Val)
c.3490A>G (p.Ile1164Val)
c.8005A>G (p.Ile2669Val)
 dbSNP
5g.13770951T>GCA359205297DNAH5c.9403A>C (p.Ile3135Leu)
c.9358A>C (p.Ile3120Leu)
n.115A>C
c.9511A>C (p.Ile3171Leu)
c.8416A>C (p.Ile2806Leu)
c.4600A>C (p.Ile1534Leu)
c.4153A>C (p.Ile1385Leu)
c.3490A>C (p.Ile1164Leu)
c.8005A>C (p.Ile2669Leu)
5g.13770951T=CA1528431249DNAH5c.9403A= (p.Ile3135=)
c.9358A= (p.Ile3120=)
n.115A=
c.9511A= (p.Ile3171=)
c.8416A= (p.Ile2806=)
c.4600A= (p.Ile1534=)
c.4153A= (p.Ile1385=)
c.3490A= (p.Ile1164=)
c.8005A= (p.Ile2669=)
5g.13770952A>CCA359205298DNAH5c.9402T>G (p.Asp3134Glu)
c.9357T>G (p.Asp3119Glu)
n.114T>G
c.9510T>G (p.Asp3170Glu)
c.8415T>G (p.Asp2805Glu)
c.4599T>G (p.Asp1533Glu)
c.4152T>G (p.Asp1384Glu)
c.3489T>G (p.Asp1163Glu)
c.8004T>G (p.Asp2668Glu)
5g.13770952A>GCA443535439DNAH5c.9402T>C (p.Asp3134=)
c.9357T>C (p.Asp3119=)
n.114T>C
c.9510T>C (p.Asp3170=)
c.8415T>C (p.Asp2805=)
c.4599T>C (p.Asp1533=)
c.4152T>C (p.Asp1384=)
c.3489T>C (p.Asp1163=)
c.8004T>C (p.Asp2668=)
 ClinVar gnomAD v4
5g.13770952A>TCA359205299DNAH5c.9402T>A (p.Asp3134Glu)
c.9357T>A (p.Asp3119Glu)
n.114T>A
c.9510T>A (p.Asp3170Glu)
c.8415T>A (p.Asp2805Glu)
c.4599T>A (p.Asp1533Glu)
c.4152T>A (p.Asp1384Glu)
c.3489T>A (p.Asp1163Glu)
c.8004T>A (p.Asp2668Glu)
5g.13770954_13770956delCA2673268304DNAH5c.9400_9402del (p.Asp3134del)
c.9355_9357del (p.Asp3119del)
n.112_114del
c.9508_9510del (p.Asp3170del)
c.8413_8415del (p.Asp2805del)
c.4597_4599del (p.Asp1533del)
c.4150_4152del (p.Asp1384del)
c.3487_3489del (p.Asp1163del)
c.8002_8004del (p.Asp2668del)
 gnomAD v4
5g.13770953T>ACA359205304DNAH5c.9401A>T (p.Asp3134Val)
c.9356A>T (p.Asp3119Val)
n.113A>T
c.9509A>T (p.Asp3170Val)
c.8414A>T (p.Asp2805Val)
c.4598A>T (p.Asp1533Val)
c.4151A>T (p.Asp1384Val)
c.3488A>T (p.Asp1163Val)
c.8003A>T (p.Asp2668Val)
5g.13770953T>CCA3202552DNAH5c.9401A>G (p.Asp3134Gly)
c.9356A>G (p.Asp3119Gly)
n.113A>G
c.9509A>G (p.Asp3170Gly)
c.8414A>G (p.Asp2805Gly)
c.4598A>G (p.Asp1533Gly)
c.4151A>G (p.Asp1384Gly)
c.3488A>G (p.Asp1163Gly)
c.8003A>G (p.Asp2668Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770953T>GCA359205301DNAH5c.9401A>C (p.Asp3134Ala)
c.9356A>C (p.Asp3119Ala)
n.113A>C
c.9509A>C (p.Asp3170Ala)
c.8414A>C (p.Asp2805Ala)
c.4598A>C (p.Asp1533Ala)
c.4151A>C (p.Asp1384Ala)
c.3488A>C (p.Asp1163Ala)
c.8003A>C (p.Asp2668Ala)
5g.13770953T=CA1528431250DNAH5c.9401A= (p.Asp3134=)
c.9356A= (p.Asp3119=)
n.113A=
c.9509A= (p.Asp3170=)
c.8414A= (p.Asp2805=)
c.4598A= (p.Asp1533=)
c.4151A= (p.Asp1384=)
c.3488A= (p.Asp1163=)
c.8003A= (p.Asp2668=)
5g.13770954C>ACA359205306DNAH5c.9400G>T (p.Asp3134Tyr)
c.9355G>T (p.Asp3119Tyr)
n.112G>T
c.9508G>T (p.Asp3170Tyr)
c.8413G>T (p.Asp2805Tyr)
c.4597G>T (p.Asp1533Tyr)
c.4150G>T (p.Asp1384Tyr)
c.3487G>T (p.Asp1163Tyr)
c.8002G>T (p.Asp2668Tyr)
5g.13770954C=CA1528431251DNAH5c.9400G= (p.Asp3134=)
c.9355G= (p.Asp3119=)
n.112G=
c.9508G= (p.Asp3170=)
c.8413G= (p.Asp2805=)
c.4597G= (p.Asp1533=)
c.4150G= (p.Asp1384=)
c.3487G= (p.Asp1163=)
c.8002G= (p.Asp2668=)
5g.13770954C>GCA359205309DNAH5c.9400G>C (p.Asp3134His)
c.9355G>C (p.Asp3119His)
n.112G>C
c.9508G>C (p.Asp3170His)
c.8413G>C (p.Asp2805His)
c.4597G>C (p.Asp1533His)
c.4150G>C (p.Asp1384His)
c.3487G>C (p.Asp1163His)
c.8002G>C (p.Asp2668His)
5g.13770954C>TCA113933116DNAH5c.9400G>A (p.Asp3134Asn)
c.9355G>A (p.Asp3119Asn)
n.112G>A
c.9508G>A (p.Asp3170Asn)
c.8413G>A (p.Asp2805Asn)
c.4597G>A (p.Asp1533Asn)
c.4150G>A (p.Asp1384Asn)
c.3487G>A (p.Asp1163Asn)
c.8002G>A (p.Asp2668Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770955A=CA1528431252DNAH5c.9399T= (p.Tyr3133=)
c.9354T= (p.Tyr3118=)
n.111T=
c.9507T= (p.Tyr3169=)
c.8412T= (p.Tyr2804=)
c.4596T= (p.Tyr1532=)
c.4149T= (p.Tyr1383=)
c.3486T= (p.Tyr1162=)
c.8001T= (p.Tyr2667=)
5g.13770955A>CCA359205311DNAH5c.9399T>G (p.Tyr3133Ter)
c.9354T>G (p.Tyr3118Ter)
n.111T>G
c.9507T>G (p.Tyr3169Ter)
c.8412T>G (p.Tyr2804Ter)
c.4596T>G (p.Tyr1532Ter)
c.4149T>G (p.Tyr1383Ter)
c.3486T>G (p.Tyr1162Ter)
c.8001T>G (p.Tyr2667Ter)
5g.13770955A>GCA443535440DNAH5c.9399T>C (p.Tyr3133=)
c.9354T>C (p.Tyr3118=)
n.111T>C
c.9507T>C (p.Tyr3169=)
c.8412T>C (p.Tyr2804=)
c.4596T>C (p.Tyr1532=)
c.4149T>C (p.Tyr1383=)
c.3486T>C (p.Tyr1162=)
c.8001T>C (p.Tyr2667=)
 dbSNP gnomAD v4
5g.13770955A>TCA359205312DNAH5c.9399T>A (p.Tyr3133Ter)
c.9354T>A (p.Tyr3118Ter)
n.111T>A
c.9507T>A (p.Tyr3169Ter)
c.8412T>A (p.Tyr2804Ter)
c.4596T>A (p.Tyr1532Ter)
c.4149T>A (p.Tyr1383Ter)
c.3486T>A (p.Tyr1162Ter)
c.8001T>A (p.Tyr2667Ter)
 ClinVar dbSNP gnomAD v4
5g.13770956T>ACA359205315DNAH5c.9398A>T (p.Tyr3133Phe)
c.9353A>T (p.Tyr3118Phe)
n.110A>T
c.9506A>T (p.Tyr3169Phe)
c.8411A>T (p.Tyr2804Phe)
c.4595A>T (p.Tyr1532Phe)
c.4148A>T (p.Tyr1383Phe)
c.3485A>T (p.Tyr1162Phe)
c.8000A>T (p.Tyr2667Phe)
5g.13770956T>CCA359205316DNAH5c.9398A>G (p.Tyr3133Cys)
c.9353A>G (p.Tyr3118Cys)
n.110A>G
c.9506A>G (p.Tyr3169Cys)
c.8411A>G (p.Tyr2804Cys)
c.4595A>G (p.Tyr1532Cys)
c.4148A>G (p.Tyr1383Cys)
c.3485A>G (p.Tyr1162Cys)
c.8000A>G (p.Tyr2667Cys)
 dbSNP gnomAD v3 gnomAD v4
5g.13770956T>GCA359205319DNAH5c.9398A>C (p.Tyr3133Ser)
c.9353A>C (p.Tyr3118Ser)
n.110A>C
c.9506A>C (p.Tyr3169Ser)
c.8411A>C (p.Tyr2804Ser)
c.4595A>C (p.Tyr1532Ser)
c.4148A>C (p.Tyr1383Ser)
c.3485A>C (p.Tyr1162Ser)
c.8000A>C (p.Tyr2667Ser)
5g.13770956T=CA1528431253DNAH5c.9398A= (p.Tyr3133=)
c.9353A= (p.Tyr3118=)
n.110A=
c.9506A= (p.Tyr3169=)
c.8411A= (p.Tyr2804=)
c.4595A= (p.Tyr1532=)
c.4148A= (p.Tyr1383=)
c.3485A= (p.Tyr1162=)
c.8000A= (p.Tyr2667=)
5g.13770957A>CCA359205325DNAH5c.9397T>G (p.Tyr3133Asp)
c.9352T>G (p.Tyr3118Asp)
n.109T>G
c.9505T>G (p.Tyr3169Asp)
c.8410T>G (p.Tyr2804Asp)
c.4594T>G (p.Tyr1532Asp)
c.4147T>G (p.Tyr1383Asp)
c.3484T>G (p.Tyr1162Asp)
c.7999T>G (p.Tyr2667Asp)
5g.13770957A>GCA359205326DNAH5c.9397T>C (p.Tyr3133His)
c.9352T>C (p.Tyr3118His)
n.109T>C
c.9505T>C (p.Tyr3169His)
c.8410T>C (p.Tyr2804His)
c.4594T>C (p.Tyr1532His)
c.4147T>C (p.Tyr1383His)
c.3484T>C (p.Tyr1162His)
c.7999T>C (p.Tyr2667His)
5g.13770957A>TCA359205327DNAH5c.9397T>A (p.Tyr3133Asn)
c.9352T>A (p.Tyr3118Asn)
n.109T>A
c.9505T>A (p.Tyr3169Asn)
c.8410T>A (p.Tyr2804Asn)
c.4594T>A (p.Tyr1532Asn)
c.4147T>A (p.Tyr1383Asn)
c.3484T>A (p.Tyr1162Asn)
c.7999T>A (p.Tyr2667Asn)
5g.13770958G>ACA443535444DNAH5c.9396C>T (p.Ser3132=)
c.9351C>T (p.Ser3117=)
n.108C>T
c.9504C>T (p.Ser3168=)
c.8409C>T (p.Ser2803=)
c.4593C>T (p.Ser1531=)
c.4146C>T (p.Ser1382=)
c.3483C>T (p.Ser1161=)
c.7998C>T (p.Ser2666=)
5g.13770958G>CCA443535446DNAH5c.9396C>G (p.Ser3132=)
c.9351C>G (p.Ser3117=)
n.108C>G
c.9504C>G (p.Ser3168=)
c.8409C>G (p.Ser2803=)
c.4593C>G (p.Ser1531=)
c.4146C>G (p.Ser1382=)
c.3483C>G (p.Ser1161=)
c.7998C>G (p.Ser2666=)
5g.13770958G>TCA443535445DNAH5c.9396C>A (p.Ser3132=)
c.9351C>A (p.Ser3117=)
n.108C>A
c.9504C>A (p.Ser3168=)
c.8409C>A (p.Ser2803=)
c.4593C>A (p.Ser1531=)
c.4146C>A (p.Ser1382=)
c.3483C>A (p.Ser1161=)
c.7998C>A (p.Ser2666=)
5g.13770959G>ACA359205330DNAH5c.9395C>T (p.Ser3132Phe)
c.9350C>T (p.Ser3117Phe)
n.107C>T
c.9503C>T (p.Ser3168Phe)
c.8408C>T (p.Ser2803Phe)
c.4592C>T (p.Ser1531Phe)
c.4145C>T (p.Ser1382Phe)
c.3482C>T (p.Ser1161Phe)
c.7997C>T (p.Ser2666Phe)
 COSMIC
5g.13770959G>CCA359205331DNAH5c.9395C>G (p.Ser3132Cys)
c.9350C>G (p.Ser3117Cys)
n.107C>G
c.9503C>G (p.Ser3168Cys)
c.8408C>G (p.Ser2803Cys)
c.4592C>G (p.Ser1531Cys)
c.4145C>G (p.Ser1382Cys)
c.3482C>G (p.Ser1161Cys)
c.7997C>G (p.Ser2666Cys)
5g.13770959G>TCA359205332DNAH5c.9395C>A (p.Ser3132Tyr)
c.9350C>A (p.Ser3117Tyr)
n.107C>A
c.9503C>A (p.Ser3168Tyr)
c.8408C>A (p.Ser2803Tyr)
c.4592C>A (p.Ser1531Tyr)
c.4145C>A (p.Ser1382Tyr)
c.3482C>A (p.Ser1161Tyr)
c.7997C>A (p.Ser2666Tyr)

Number of alleles fetched