Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13764772_13769751delinsTAACA916084225DNAH5c.9606-136_10101+1204delinsTTA
c.9561-136_10056+1204delinsTTA
n.318-136_610-1871delinsTTA
c.9714-136_10209+1204delinsTTA
c.8619-136_9114+1204delinsTTA
c.4803-136_5298+1204delinsTTA
c.4356-136_4851+1204delinsTTA
c.3693-136_4188+1204delinsTTA
c.8208-136_8703+1204delinsTTA
 ClinVar
5g.13768949_13768951delinsCATCA1528430313DNAH5c.9897+9_9897+11delinsATG (n.9897+9_9897+11delinsATG)
c.9852+9_9852+11delinsATG (n.9852+9_9852+11delinsATG)
n.609+9_609+11delinsATG
c.10005+9_10005+11delinsATG (n.10005+9_10005+11delinsATG)
c.8910+9_8910+11delinsATG (n.8910+9_8910+11delinsATG)
c.5094+9_5094+11delinsATG (n.5094+9_5094+11delinsATG)
c.4647+9_4647+11delinsATG (n.4647+9_4647+11delinsATG)
c.3984+9_3984+11delinsATG (n.3984+9_3984+11delinsATG)
c.8499+9_8499+11delinsATG (n.8499+9_8499+11delinsATG)
5g.13768950A>GCA2673269715DNAH5c.9897+10T>C (n.9897+10T>C)
c.9852+10T>C (n.9852+10T>C)
n.609+10T>C
c.10005+10T>C (n.10005+10T>C)
c.8910+10T>C (n.8910+10T>C)
c.5094+10T>C (n.5094+10T>C)
c.4647+10T>C (n.4647+10T>C)
c.3984+10T>C (n.3984+10T>C)
c.8499+10T>C (n.8499+10T>C)
 dbSNP gnomAD v4
5g.13768951_13768952delCA3202403DNAH5c.9897+9_9897+10del (n.9897+9_9897+10del)
c.9852+9_9852+10del (n.9852+9_9852+10del)
n.609+9_609+10del
c.10005+9_10005+10del (n.10005+9_10005+10del)
c.8910+9_8910+10del (n.8910+9_8910+10del)
c.5094+9_5094+10del (n.5094+9_5094+10del)
c.4647+9_4647+10del (n.4647+9_4647+10del)
c.3984+9_3984+10del (n.3984+9_3984+10del)
c.8499+9_8499+10del (n.8499+9_8499+10del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768951T>CCA113930643DNAH5c.9897+9A>G (n.9897+9A>G)
c.9852+9A>G (n.9852+9A>G)
n.609+9A>G
c.10005+9A>G (n.10005+9A>G)
c.8910+9A>G (n.8910+9A>G)
c.5094+9A>G (n.5094+9A>G)
c.4647+9A>G (n.4647+9A>G)
c.3984+9A>G (n.3984+9A>G)
c.8499+9A>G (n.8499+9A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13768951T>GCA1528430315DNAH5c.9897+9A>C (n.9897+9A>C)
c.9852+9A>C (n.9852+9A>C)
n.609+9A>C
c.10005+9A>C (n.10005+9A>C)
c.8910+9A>C (n.8910+9A>C)
c.5094+9A>C (n.5094+9A>C)
c.4647+9A>C (n.4647+9A>C)
c.3984+9A>C (n.3984+9A>C)
c.8499+9A>C (n.8499+9A>C)
 ClinVar dbSNP gnomAD v4
5g.13768951T=CA1528430314DNAH5c.9897+9A= (n.9897+9A=)
c.9852+9A= (n.9852+9A=)
n.609+9A=
c.10005+9A= (n.10005+9A=)
c.8910+9A= (n.8910+9A=)
c.5094+9A= (n.5094+9A=)
c.4647+9A= (n.4647+9A=)
c.3984+9A= (n.3984+9A=)
c.8499+9A= (n.8499+9A=)
5g.13768952A>CCA2697547056DNAH5c.9897+8T>G (n.9897+8T>G)
c.9852+8T>G (n.9852+8T>G)
n.609+8T>G
c.10005+8T>G (n.10005+8T>G)
c.8910+8T>G (n.8910+8T>G)
c.5094+8T>G (n.5094+8T>G)
c.4647+8T>G (n.4647+8T>G)
c.3984+8T>G (n.3984+8T>G)
c.8499+8T>G (n.8499+8T>G)
 ClinVar
5g.13768953G>TCA2573138450DNAH5c.9897+7C>A (n.9897+7C>A)
c.9852+7C>A (n.9852+7C>A)
n.609+7C>A
c.10005+7C>A (n.10005+7C>A)
c.8910+7C>A (n.8910+7C>A)
c.5094+7C>A (n.5094+7C>A)
c.4647+7C>A (n.4647+7C>A)
c.3984+7C>A (n.3984+7C>A)
c.8499+7C>A (n.8499+7C>A)
 ClinVar dbSNP gnomAD v4
5g.13768955T>ACA3202404DNAH5c.9897+5A>T (n.9897+5A>T)
c.9852+5A>T (n.9852+5A>T)
n.609+5A>T
c.10005+5A>T (n.10005+5A>T)
c.8910+5A>T (n.8910+5A>T)
c.5094+5A>T (n.5094+5A>T)
c.4647+5A>T (n.4647+5A>T)
c.3984+5A>T (n.3984+5A>T)
c.8499+5A>T (n.8499+5A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768955T>CCA2673269716DNAH5c.9897+5A>G (n.9897+5A>G)
c.9852+5A>G (n.9852+5A>G)
n.609+5A>G
c.10005+5A>G (n.10005+5A>G)
c.8910+5A>G (n.8910+5A>G)
c.5094+5A>G (n.5094+5A>G)
c.4647+5A>G (n.4647+5A>G)
c.3984+5A>G (n.3984+5A>G)
c.8499+5A>G (n.8499+5A>G)
 gnomAD v4
5g.13768955T>GCA557876565DNAH5c.9897+5A>C (n.9897+5A>C)
c.9852+5A>C (n.9852+5A>C)
n.609+5A>C
c.10005+5A>C (n.10005+5A>C)
c.8910+5A>C (n.8910+5A>C)
c.5094+5A>C (n.5094+5A>C)
c.4647+5A>C (n.4647+5A>C)
c.3984+5A>C (n.3984+5A>C)
c.8499+5A>C (n.8499+5A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13768955T=CA1528430316DNAH5c.9897+5A= (n.9897+5A=)
c.9852+5A= (n.9852+5A=)
n.609+5A=
c.10005+5A= (n.10005+5A=)
c.8910+5A= (n.8910+5A=)
c.5094+5A= (n.5094+5A=)
c.4647+5A= (n.4647+5A=)
c.3984+5A= (n.3984+5A=)
c.8499+5A= (n.8499+5A=)
5g.13768956G>ACA557876566DNAH5c.9897+4C>T (n.9897+4C>T)
c.9852+4C>T (n.9852+4C>T)
n.609+4C>T
c.10005+4C>T (n.10005+4C>T)
c.8910+4C>T (n.8910+4C>T)
c.5094+4C>T (n.5094+4C>T)
c.4647+4C>T (n.4647+4C>T)
c.3984+4C>T (n.3984+4C>T)
c.8499+4C>T (n.8499+4C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13768956G=CA1528430317DNAH5c.9897+4C= (n.9897+4C=)
c.9852+4C= (n.9852+4C=)
n.609+4C=
c.10005+4C= (n.10005+4C=)
c.8910+4C= (n.8910+4C=)
c.5094+4C= (n.5094+4C=)
c.4647+4C= (n.4647+4C=)
c.3984+4C= (n.3984+4C=)
c.8499+4C= (n.8499+4C=)
5g.13768957C>TCA2673269717DNAH5c.9897+3G>A (n.9897+3G>A)
c.9852+3G>A (n.9852+3G>A)
n.609+3G>A
c.10005+3G>A (n.10005+3G>A)
c.8910+3G>A (n.8910+3G>A)
c.5094+3G>A (n.5094+3G>A)
c.4647+3G>A (n.4647+3G>A)
c.3984+3G>A (n.3984+3G>A)
c.8499+3G>A (n.8499+3G>A)
 gnomAD v4
5g.13768958A>CCA359201193DNAH5c.9897+2T>G (n.9897+2T>G)
c.9852+2T>G (n.9852+2T>G)
n.609+2T>G
c.10005+2T>G (n.10005+2T>G)
c.8910+2T>G (n.8910+2T>G)
c.5094+2T>G (n.5094+2T>G)
c.4647+2T>G (n.4647+2T>G)
c.3984+2T>G (n.3984+2T>G)
c.8499+2T>G (n.8499+2T>G)
5g.13768958A>GCA359201199DNAH5c.9897+2T>C (n.9897+2T>C)
c.9852+2T>C (n.9852+2T>C)
n.609+2T>C
c.10005+2T>C (n.10005+2T>C)
c.8910+2T>C (n.8910+2T>C)
c.5094+2T>C (n.5094+2T>C)
c.4647+2T>C (n.4647+2T>C)
c.3984+2T>C (n.3984+2T>C)
c.8499+2T>C (n.8499+2T>C)
5g.13768958A>TCA359201202DNAH5c.9897+2T>A (n.9897+2T>A)
c.9852+2T>A (n.9852+2T>A)
n.609+2T>A
c.10005+2T>A (n.10005+2T>A)
c.8910+2T>A (n.8910+2T>A)
c.5094+2T>A (n.5094+2T>A)
c.4647+2T>A (n.4647+2T>A)
c.3984+2T>A (n.3984+2T>A)
c.8499+2T>A (n.8499+2T>A)
5g.13768958_13768959delinsACCA1528430318DNAH5c.9897+1_9897+2delinsGT (n.9897+1_9897+2delinsGT)
c.9852+1_9852+2delinsGT (n.9852+1_9852+2delinsGT)
n.609+1_609+2delinsGT
c.10005+1_10005+2delinsGT (n.10005+1_10005+2delinsGT)
c.8910+1_8910+2delinsGT (n.8910+1_8910+2delinsGT)
c.5094+1_5094+2delinsGT (n.5094+1_5094+2delinsGT)
c.4647+1_4647+2delinsGT (n.4647+1_4647+2delinsGT)
c.3984+1_3984+2delinsGT (n.3984+1_3984+2delinsGT)
c.8499+1_8499+2delinsGT (n.8499+1_8499+2delinsGT)
5g.13768959C>ACA359201205DNAH5c.9897+1G>T (n.9897+1G>T)
c.9852+1G>T (n.9852+1G>T)
n.609+1G>T
c.10005+1G>T (n.10005+1G>T)
c.8910+1G>T (n.8910+1G>T)
c.5094+1G>T (n.5094+1G>T)
c.4647+1G>T (n.4647+1G>T)
c.3984+1G>T (n.3984+1G>T)
c.8499+1G>T (n.8499+1G>T)
 ClinVar gnomAD v4
5g.13768959C=CA1528430319DNAH5c.9897+1G= (n.9897+1G=)
c.9852+1G= (n.9852+1G=)
n.609+1G=
c.10005+1G= (n.10005+1G=)
c.8910+1G= (n.8910+1G=)
c.5094+1G= (n.5094+1G=)
c.4647+1G= (n.4647+1G=)
c.3984+1G= (n.3984+1G=)
c.8499+1G= (n.8499+1G=)
5g.13768959C>GCA113930688DNAH5c.9897+1G>C (n.9897+1G>C)
c.9852+1G>C (n.9852+1G>C)
n.609+1G>C
c.10005+1G>C (n.10005+1G>C)
c.8910+1G>C (n.8910+1G>C)
c.5094+1G>C (n.5094+1G>C)
c.4647+1G>C (n.4647+1G>C)
c.3984+1G>C (n.3984+1G>C)
c.8499+1G>C (n.8499+1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13768959C>TCA359201211DNAH5c.9897+1G>A (n.9897+1G>A)
c.9852+1G>A (n.9852+1G>A)
n.609+1G>A
c.10005+1G>A (n.10005+1G>A)
c.8910+1G>A (n.8910+1G>A)
c.5094+1G>A (n.5094+1G>A)
c.4647+1G>A (n.4647+1G>A)
c.3984+1G>A (n.3984+1G>A)
c.8499+1G>A (n.8499+1G>A)
 ClinVar dbSNP
5g.13768960delCA557876567DNAH5c.9897+1del
c.9852+1del
n.609+1del
c.10005+1del
c.8910+1del
c.5094+1del
c.4647+1del
c.3984+1del
c.8499+1del
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13768960C>ACA359201213DNAH5c.9897G>T (p.Gln3299His)
c.9852G>T (p.Gln3284His)
n.609G>T
c.10005G>T (p.Gln3335His)
c.8910G>T (p.Gln2970His)
c.5094G>T (p.Gln1698His)
c.4647G>T (p.Gln1549His)
c.3984G>T (p.Gln1328His)
c.8499G>T (p.Gln2833His)
5g.13768960C=CA1528430320DNAH5c.9897G= (p.Gln3299=)
c.9852G= (p.Gln3284=)
n.609G=
c.10005G= (p.Gln3335=)
c.8910G= (p.Gln2970=)
c.5094G= (p.Gln1698=)
c.4647G= (p.Gln1549=)
c.3984G= (p.Gln1328=)
c.8499G= (p.Gln2833=)
5g.13768960C>GCA3202405DNAH5c.9897G>C (p.Gln3299His)
c.9852G>C (p.Gln3284His)
n.609G>C
c.10005G>C (p.Gln3335His)
c.8910G>C (p.Gln2970His)
c.5094G>C (p.Gln1698His)
c.4647G>C (p.Gln1549His)
c.3984G>C (p.Gln1328His)
c.8499G>C (p.Gln2833His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768960C>TCA443253368DNAH5c.9897G>A (p.Gln3299=)
c.9852G>A (p.Gln3284=)
n.609G>A
c.10005G>A (p.Gln3335=)
c.8910G>A (p.Gln2970=)
c.5094G>A (p.Gln1698=)
c.4647G>A (p.Gln1549=)
c.3984G>A (p.Gln1328=)
c.8499G>A (p.Gln2833=)
 gnomAD v4
5g.13768961T>ACA359201214DNAH5c.9896A>T (p.Gln3299Leu)
c.9851A>T (p.Gln3284Leu)
n.608A>T
c.10004A>T (p.Gln3335Leu)
c.8909A>T (p.Gln2970Leu)
c.5093A>T (p.Gln1698Leu)
c.4646A>T (p.Gln1549Leu)
c.3983A>T (p.Gln1328Leu)
c.8498A>T (p.Gln2833Leu)
5g.13768961T>CCA233907DNAH5c.9896A>G (p.Gln3299Arg)
c.9851A>G (p.Gln3284Arg)
n.608A>G
c.10004A>G (p.Gln3335Arg)
c.8909A>G (p.Gln2970Arg)
c.5093A>G (p.Gln1698Arg)
c.4646A>G (p.Gln1549Arg)
c.3983A>G (p.Gln1328Arg)
c.8498A>G (p.Gln2833Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13768961T>GCA359201219DNAH5c.9896A>C (p.Gln3299Pro)
c.9851A>C (p.Gln3284Pro)
n.608A>C
c.10004A>C (p.Gln3335Pro)
c.8909A>C (p.Gln2970Pro)
c.5093A>C (p.Gln1698Pro)
c.4646A>C (p.Gln1549Pro)
c.3983A>C (p.Gln1328Pro)
c.8498A>C (p.Gln2833Pro)
5g.13768961T=CA1528430321DNAH5c.9896A= (p.Gln3299=)
c.9851A= (p.Gln3284=)
n.608A=
c.10004A= (p.Gln3335=)
c.8909A= (p.Gln2970=)
c.5093A= (p.Gln1698=)
c.4646A= (p.Gln1549=)
c.3983A= (p.Gln1328=)
c.8498A= (p.Gln2833=)
5g.13768962G>ACA359201224DNAH5c.9895C>T (p.Gln3299Ter)
c.9850C>T (p.Gln3284Ter)
n.607C>T
c.10003C>T (p.Gln3335Ter)
c.8908C>T (p.Gln2970Ter)
c.5092C>T (p.Gln1698Ter)
c.4645C>T (p.Gln1549Ter)
c.3982C>T (p.Gln1328Ter)
c.8497C>T (p.Gln2833Ter)
5g.13768962G>CCA113930702DNAH5c.9895C>G (p.Gln3299Glu)
c.9850C>G (p.Gln3284Glu)
n.607C>G
c.10003C>G (p.Gln3335Glu)
c.8908C>G (p.Gln2970Glu)
c.5092C>G (p.Gln1698Glu)
c.4645C>G (p.Gln1549Glu)
c.3982C>G (p.Gln1328Glu)
c.8497C>G (p.Gln2833Glu)
 dbSNP gnomAD v4
5g.13768962G=CA1528430322DNAH5c.9895C= (p.Gln3299=)
c.9850C= (p.Gln3284=)
n.607C=
c.10003C= (p.Gln3335=)
c.8908C= (p.Gln2970=)
c.5092C= (p.Gln1698=)
c.4645C= (p.Gln1549=)
c.3982C= (p.Gln1328=)
c.8497C= (p.Gln2833=)
5g.13768962G>TCA359201228DNAH5c.9895C>A (p.Gln3299Lys)
c.9850C>A (p.Gln3284Lys)
n.607C>A
c.10003C>A (p.Gln3335Lys)
c.8908C>A (p.Gln2970Lys)
c.5092C>A (p.Gln1698Lys)
c.4645C>A (p.Gln1549Lys)
c.3982C>A (p.Gln1328Lys)
c.8497C>A (p.Gln2833Lys)
5g.13768963C>ACA3202406DNAH5c.9894G>T (p.Leu3298Phe)
c.9849G>T (p.Leu3283Phe)
n.606G>T
c.10002G>T (p.Leu3334Phe)
c.8907G>T (p.Leu2969Phe)
c.5091G>T (p.Leu1697Phe)
c.4644G>T (p.Leu1548Phe)
c.3981G>T (p.Leu1327Phe)
c.8496G>T (p.Leu2832Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768963C=CA1528430323DNAH5c.9894G= (p.Leu3298=)
c.9849G= (p.Leu3283=)
n.606G=
c.10002G= (p.Leu3334=)
c.8907G= (p.Leu2969=)
c.5091G= (p.Leu1697=)
c.4644G= (p.Leu1548=)
c.3981G= (p.Leu1327=)
c.8496G= (p.Leu2832=)
5g.13768963C>GCA359201229DNAH5c.9894G>C (p.Leu3298Phe)
c.9849G>C (p.Leu3283Phe)
n.606G>C
c.10002G>C (p.Leu3334Phe)
c.8907G>C (p.Leu2969Phe)
c.5091G>C (p.Leu1697Phe)
c.4644G>C (p.Leu1548Phe)
c.3981G>C (p.Leu1327Phe)
c.8496G>C (p.Leu2832Phe)
5g.13768963C>TCA443253405DNAH5c.9894G>A (p.Leu3298=)
c.9849G>A (p.Leu3283=)
n.606G>A
c.10002G>A (p.Leu3334=)
c.8907G>A (p.Leu2969=)
c.5091G>A (p.Leu1697=)
c.4644G>A (p.Leu1548=)
c.3981G>A (p.Leu1327=)
c.8496G>A (p.Leu2832=)
5g.13768964A>CCA359201230DNAH5c.9893T>G (p.Leu3298Trp)
c.9848T>G (p.Leu3283Trp)
n.605T>G
c.10001T>G (p.Leu3334Trp)
c.8906T>G (p.Leu2969Trp)
c.5090T>G (p.Leu1697Trp)
c.4643T>G (p.Leu1548Trp)
c.3980T>G (p.Leu1327Trp)
c.8495T>G (p.Leu2832Trp)
 gnomAD v4
5g.13768964A>GCA359201233DNAH5c.9893T>C (p.Leu3298Ser)
c.9848T>C (p.Leu3283Ser)
n.605T>C
c.10001T>C (p.Leu3334Ser)
c.8906T>C (p.Leu2969Ser)
c.5090T>C (p.Leu1697Ser)
c.4643T>C (p.Leu1548Ser)
c.3980T>C (p.Leu1327Ser)
c.8495T>C (p.Leu2832Ser)
 gnomAD v4
5g.13768964A>TCA359201235DNAH5c.9893T>A (p.Leu3298Ter)
c.9848T>A (p.Leu3283Ter)
n.605T>A
c.10001T>A (p.Leu3334Ter)
c.8906T>A (p.Leu2969Ter)
c.5090T>A (p.Leu1697Ter)
c.4643T>A (p.Leu1548Ter)
c.3980T>A (p.Leu1327Ter)
c.8495T>A (p.Leu2832Ter)
5g.13768965A=CA1528430324DNAH5c.9892T= (p.Leu3298=)
c.9847T= (p.Leu3283=)
n.604T=
c.10000T= (p.Leu3334=)
c.8905T= (p.Leu2969=)
c.5089T= (p.Leu1697=)
c.4642T= (p.Leu1548=)
c.3979T= (p.Leu1327=)
c.8494T= (p.Leu2832=)
5g.13768965A>CCA359201236DNAH5c.9892T>G (p.Leu3298Val)
c.9847T>G (p.Leu3283Val)
n.604T>G
c.10000T>G (p.Leu3334Val)
c.8905T>G (p.Leu2969Val)
c.5089T>G (p.Leu1697Val)
c.4642T>G (p.Leu1548Val)
c.3979T>G (p.Leu1327Val)
c.8494T>G (p.Leu2832Val)
5g.13768965A>GCA3202407DNAH5c.9892T>C (p.Leu3298=)
c.9847T>C (p.Leu3283=)
n.604T>C
c.10000T>C (p.Leu3334=)
c.8905T>C (p.Leu2969=)
c.5089T>C (p.Leu1697=)
c.4642T>C (p.Leu1548=)
c.3979T>C (p.Leu1327=)
c.8494T>C (p.Leu2832=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13768965A>TCA359201237DNAH5c.9892T>A (p.Leu3298Met)
c.9847T>A (p.Leu3283Met)
n.604T>A
c.10000T>A (p.Leu3334Met)
c.8905T>A (p.Leu2969Met)
c.5089T>A (p.Leu1697Met)
c.4642T>A (p.Leu1548Met)
c.3979T>A (p.Leu1327Met)
c.8494T>A (p.Leu2832Met)
5g.13768966T>ACA443253432DNAH5c.9891A>T (p.Ala3297=)
c.9846A>T (p.Ala3282=)
n.603A>T
c.9999A>T (p.Ala3333=)
c.8904A>T (p.Ala2968=)
c.5088A>T (p.Ala1696=)
c.4641A>T (p.Ala1547=)
c.3978A>T (p.Ala1326=)
c.8493A>T (p.Ala2831=)
5g.13768966T>CCA336950DNAH5c.9891A>G (p.Ala3297=)
c.9846A>G (p.Ala3282=)
n.603A>G
c.9999A>G (p.Ala3333=)
c.8904A>G (p.Ala2968=)
c.5088A>G (p.Ala1696=)
c.4641A>G (p.Ala1547=)
c.3978A>G (p.Ala1326=)
c.8493A>G (p.Ala2831=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13768966T>GCA443253427DNAH5c.9891A>C (p.Ala3297=)
c.9846A>C (p.Ala3282=)
n.603A>C
c.9999A>C (p.Ala3333=)
c.8904A>C (p.Ala2968=)
c.5088A>C (p.Ala1696=)
c.4641A>C (p.Ala1547=)
c.3978A>C (p.Ala1326=)
c.8493A>C (p.Ala2831=)
5g.13768966T=CA1528430325DNAH5c.9891A= (p.Ala3297=)
c.9846A= (p.Ala3282=)
n.603A=
c.9999A= (p.Ala3333=)
c.8904A= (p.Ala2968=)
c.5088A= (p.Ala1696=)
c.4641A= (p.Ala1547=)
c.3978A= (p.Ala1326=)
c.8493A= (p.Ala2831=)
5g.13768967G>ACA359201241DNAH5c.9890C>T (p.Ala3297Val)
c.9845C>T (p.Ala3282Val)
n.602C>T
c.9998C>T (p.Ala3333Val)
c.8903C>T (p.Ala2968Val)
c.5087C>T (p.Ala1696Val)
c.4640C>T (p.Ala1547Val)
c.3977C>T (p.Ala1326Val)
c.8492C>T (p.Ala2831Val)
 ClinVar gnomAD v4
5g.13768967G>CCA359201242DNAH5c.9890C>G (p.Ala3297Gly)
c.9845C>G (p.Ala3282Gly)
n.602C>G
c.9998C>G (p.Ala3333Gly)
c.8903C>G (p.Ala2968Gly)
c.5087C>G (p.Ala1696Gly)
c.4640C>G (p.Ala1547Gly)
c.3977C>G (p.Ala1326Gly)
c.8492C>G (p.Ala2831Gly)
5g.13768967G>TCA359201243DNAH5c.9890C>A (p.Ala3297Glu)
c.9845C>A (p.Ala3282Glu)
n.602C>A
c.9998C>A (p.Ala3333Glu)
c.8903C>A (p.Ala2968Glu)
c.5087C>A (p.Ala1696Glu)
c.4640C>A (p.Ala1547Glu)
c.3977C>A (p.Ala1326Glu)
c.8492C>A (p.Ala2831Glu)
5g.13768968C>ACA359201244DNAH5c.9889G>T (p.Ala3297Ser)
c.9844G>T (p.Ala3282Ser)
n.601G>T
c.9997G>T (p.Ala3333Ser)
c.8902G>T (p.Ala2968Ser)
c.5086G>T (p.Ala1696Ser)
c.4639G>T (p.Ala1547Ser)
c.3976G>T (p.Ala1326Ser)
c.8491G>T (p.Ala2831Ser)
5g.13768968C=CA1528430326DNAH5c.9889G= (p.Ala3297=)
c.9844G= (p.Ala3282=)
n.601G=
c.9997G= (p.Ala3333=)
c.8902G= (p.Ala2968=)
c.5086G= (p.Ala1696=)
c.4639G= (p.Ala1547=)
c.3976G= (p.Ala1326=)
c.8491G= (p.Ala2831=)
5g.13768968C>GCA359201245DNAH5c.9889G>C (p.Ala3297Pro)
c.9844G>C (p.Ala3282Pro)
n.601G>C
c.9997G>C (p.Ala3333Pro)
c.8902G>C (p.Ala2968Pro)
c.5086G>C (p.Ala1696Pro)
c.4639G>C (p.Ala1547Pro)
c.3976G>C (p.Ala1326Pro)
c.8491G>C (p.Ala2831Pro)
5g.13768968C>TCA359201248DNAH5c.9889G>A (p.Ala3297Thr)
c.9844G>A (p.Ala3282Thr)
n.601G>A
c.9997G>A (p.Ala3333Thr)
c.8902G>A (p.Ala2968Thr)
c.5086G>A (p.Ala1696Thr)
c.4639G>A (p.Ala1547Thr)
c.3976G>A (p.Ala1326Thr)
c.8491G>A (p.Ala2831Thr)
 dbSNP
5g.13768969A=CA1528430327DNAH5c.9888T= (p.Ala3296=)
c.9843T= (p.Ala3281=)
n.600T=
c.9996T= (p.Ala3332=)
c.8901T= (p.Ala2967=)
c.5085T= (p.Ala1695=)
c.4638T= (p.Ala1546=)
c.3975T= (p.Ala1325=)
c.8490T= (p.Ala2830=)
5g.13768969A>CCA443253457DNAH5c.9888T>G (p.Ala3296=)
c.9843T>G (p.Ala3281=)
n.600T>G
c.9996T>G (p.Ala3332=)
c.8901T>G (p.Ala2967=)
c.5085T>G (p.Ala1695=)
c.4638T>G (p.Ala1546=)
c.3975T>G (p.Ala1325=)
c.8490T>G (p.Ala2830=)
5g.13768969A>GCA443253464DNAH5c.9888T>C (p.Ala3296=)
c.9843T>C (p.Ala3281=)
n.600T>C
c.9996T>C (p.Ala3332=)
c.8901T>C (p.Ala2967=)
c.5085T>C (p.Ala1695=)
c.4638T>C (p.Ala1546=)
c.3975T>C (p.Ala1325=)
c.8490T>C (p.Ala2830=)
5g.13768969A>TCA443253465DNAH5c.9888T>A (p.Ala3296=)
c.9843T>A (p.Ala3281=)
n.600T>A
c.9996T>A (p.Ala3332=)
c.8901T>A (p.Ala2967=)
c.5085T>A (p.Ala1695=)
c.4638T>A (p.Ala1546=)
c.3975T>A (p.Ala1325=)
c.8490T>A (p.Ala2830=)
 dbSNP
5g.13768970G>ACA359201254DNAH5c.9887C>T (p.Ala3296Val)
c.9842C>T (p.Ala3281Val)
n.599C>T
c.9995C>T (p.Ala3332Val)
c.8900C>T (p.Ala2967Val)
c.5084C>T (p.Ala1695Val)
c.4637C>T (p.Ala1546Val)
c.3974C>T (p.Ala1325Val)
c.8489C>T (p.Ala2830Val)
 gnomAD v4
5g.13768970G>CCA3202408DNAH5c.9887C>G (p.Ala3296Gly)
c.9842C>G (p.Ala3281Gly)
n.599C>G
c.9995C>G (p.Ala3332Gly)
c.8900C>G (p.Ala2967Gly)
c.5084C>G (p.Ala1695Gly)
c.4637C>G (p.Ala1546Gly)
c.3974C>G (p.Ala1325Gly)
c.8489C>G (p.Ala2830Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768970G=CA1528430328DNAH5c.9887C= (p.Ala3296=)
c.9842C= (p.Ala3281=)
n.599C=
c.9995C= (p.Ala3332=)
c.8900C= (p.Ala2967=)
c.5084C= (p.Ala1695=)
c.4637C= (p.Ala1546=)
c.3974C= (p.Ala1325=)
c.8489C= (p.Ala2830=)
5g.13768970G>TCA359201262DNAH5c.9887C>A (p.Ala3296Asp)
c.9842C>A (p.Ala3281Asp)
n.599C>A
c.9995C>A (p.Ala3332Asp)
c.8900C>A (p.Ala2967Asp)
c.5084C>A (p.Ala1695Asp)
c.4637C>A (p.Ala1546Asp)
c.3974C>A (p.Ala1325Asp)
c.8489C>A (p.Ala2830Asp)
5g.13768971C>ACA359201271DNAH5c.9886G>T (p.Ala3296Ser)
c.9841G>T (p.Ala3281Ser)
n.598G>T
c.9994G>T (p.Ala3332Ser)
c.8899G>T (p.Ala2967Ser)
c.5083G>T (p.Ala1695Ser)
c.4636G>T (p.Ala1546Ser)
c.3973G>T (p.Ala1325Ser)
c.8488G>T (p.Ala2830Ser)
5g.13768971C>GCA359201275DNAH5c.9886G>C (p.Ala3296Pro)
c.9841G>C (p.Ala3281Pro)
n.598G>C
c.9994G>C (p.Ala3332Pro)
c.8899G>C (p.Ala2967Pro)
c.5083G>C (p.Ala1695Pro)
c.4636G>C (p.Ala1546Pro)
c.3973G>C (p.Ala1325Pro)
c.8488G>C (p.Ala2830Pro)
 gnomAD v4
5g.13768971C>TCA359201282DNAH5c.9886G>A (p.Ala3296Thr)
c.9841G>A (p.Ala3281Thr)
n.598G>A
c.9994G>A (p.Ala3332Thr)
c.8899G>A (p.Ala2967Thr)
c.5083G>A (p.Ala1695Thr)
c.4636G>A (p.Ala1546Thr)
c.3973G>A (p.Ala1325Thr)
c.8488G>A (p.Ala2830Thr)
5g.13768972T>ACA359201286DNAH5c.9885A>T (p.Glu3295Asp)
c.9840A>T (p.Glu3280Asp)
n.597A>T
c.9993A>T (p.Glu3331Asp)
c.8898A>T (p.Glu2966Asp)
c.5082A>T (p.Glu1694Asp)
c.4635A>T (p.Glu1545Asp)
c.3972A>T (p.Glu1324Asp)
c.8487A>T (p.Glu2829Asp)
5g.13768972T>CCA443253471DNAH5c.9885A>G (p.Glu3295=)
c.9840A>G (p.Glu3280=)
n.597A>G
c.9993A>G (p.Glu3331=)
c.8898A>G (p.Glu2966=)
c.5082A>G (p.Glu1694=)
c.4635A>G (p.Glu1545=)
c.3972A>G (p.Glu1324=)
c.8487A>G (p.Glu2829=)
5g.13768972T>GCA359201288DNAH5c.9885A>C (p.Glu3295Asp)
c.9840A>C (p.Glu3280Asp)
n.597A>C
c.9993A>C (p.Glu3331Asp)
c.8898A>C (p.Glu2966Asp)
c.5082A>C (p.Glu1694Asp)
c.4635A>C (p.Glu1545Asp)
c.3972A>C (p.Glu1324Asp)
c.8487A>C (p.Glu2829Asp)
5g.13768973T>ACA359201296DNAH5c.9884A>T (p.Glu3295Val)
c.9839A>T (p.Glu3280Val)
n.596A>T
c.9992A>T (p.Glu3331Val)
c.8897A>T (p.Glu2966Val)
c.5081A>T (p.Glu1694Val)
c.4634A>T (p.Glu1545Val)
c.3971A>T (p.Glu1324Val)
c.8486A>T (p.Glu2829Val)
5g.13768973T>CCA3202409DNAH5c.9884A>G (p.Glu3295Gly)
c.9839A>G (p.Glu3280Gly)
n.596A>G
c.9992A>G (p.Glu3331Gly)
c.8897A>G (p.Glu2966Gly)
c.5081A>G (p.Glu1694Gly)
c.4634A>G (p.Glu1545Gly)
c.3971A>G (p.Glu1324Gly)
c.8486A>G (p.Glu2829Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13768973T>GCA359201291DNAH5c.9884A>C (p.Glu3295Ala)
c.9839A>C (p.Glu3280Ala)
n.596A>C
c.9992A>C (p.Glu3331Ala)
c.8897A>C (p.Glu2966Ala)
c.5081A>C (p.Glu1694Ala)
c.4634A>C (p.Glu1545Ala)
c.3971A>C (p.Glu1324Ala)
c.8486A>C (p.Glu2829Ala)
5g.13768973T=CA1528430329DNAH5c.9884A= (p.Glu3295=)
c.9839A= (p.Glu3280=)
n.596A=
c.9992A= (p.Glu3331=)
c.8897A= (p.Glu2966=)
c.5081A= (p.Glu1694=)
c.4634A= (p.Glu1545=)
c.3971A= (p.Glu1324=)
c.8486A= (p.Glu2829=)
5g.13768974C>ACA359201300DNAH5c.9883G>T (p.Glu3295Ter)
c.9838G>T (p.Glu3280Ter)
n.595G>T
c.9991G>T (p.Glu3331Ter)
c.8896G>T (p.Glu2966Ter)
c.5080G>T (p.Glu1694Ter)
c.4633G>T (p.Glu1545Ter)
c.3970G>T (p.Glu1324Ter)
c.8485G>T (p.Glu2829Ter)
5g.13768974C=CA1528430330DNAH5c.9883G= (p.Glu3295=)
c.9838G= (p.Glu3280=)
n.595G=
c.9991G= (p.Glu3331=)
c.8896G= (p.Glu2966=)
c.5080G= (p.Glu1694=)
c.4633G= (p.Glu1545=)
c.3970G= (p.Glu1324=)
c.8485G= (p.Glu2829=)
5g.13768974C>GCA359201299DNAH5c.9883G>C (p.Glu3295Gln)
c.9838G>C (p.Glu3280Gln)
n.595G>C
c.9991G>C (p.Glu3331Gln)
c.8896G>C (p.Glu2966Gln)
c.5080G>C (p.Glu1694Gln)
c.4633G>C (p.Glu1545Gln)
c.3970G>C (p.Glu1324Gln)
c.8485G>C (p.Glu2829Gln)
5g.13768974C>TCA359201303DNAH5c.9883G>A (p.Glu3295Lys)
c.9838G>A (p.Glu3280Lys)
n.595G>A
c.9991G>A (p.Glu3331Lys)
c.8896G>A (p.Glu2966Lys)
c.5080G>A (p.Glu1694Lys)
c.4633G>A (p.Glu1545Lys)
c.3970G>A (p.Glu1324Lys)
c.8485G>A (p.Glu2829Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.13768975T>ACA443253504DNAH5c.9882A>T (p.Ala3294=)
c.9837A>T (p.Ala3279=)
n.594A>T
c.9990A>T (p.Ala3330=)
c.8895A>T (p.Ala2965=)
c.5079A>T (p.Ala1693=)
c.4632A>T (p.Ala1544=)
c.3969A>T (p.Ala1323=)
c.8484A>T (p.Ala2828=)
5g.13768975T>CCA443253507DNAH5c.9882A>G (p.Ala3294=)
c.9837A>G (p.Ala3279=)
n.594A>G
c.9990A>G (p.Ala3330=)
c.8895A>G (p.Ala2965=)
c.5079A>G (p.Ala1693=)
c.4632A>G (p.Ala1544=)
c.3969A>G (p.Ala1323=)
c.8484A>G (p.Ala2828=)
 dbSNP
5g.13768975T>GCA443253510DNAH5c.9882A>C (p.Ala3294=)
c.9837A>C (p.Ala3279=)
n.594A>C
c.9990A>C (p.Ala3330=)
c.8895A>C (p.Ala2965=)
c.5079A>C (p.Ala1693=)
c.4632A>C (p.Ala1544=)
c.3969A>C (p.Ala1323=)
c.8484A>C (p.Ala2828=)
 ClinVar dbSNP gnomAD v4
5g.13768975T=CA1528430331DNAH5c.9882A= (p.Ala3294=)
c.9837A= (p.Ala3279=)
n.594A=
c.9990A= (p.Ala3330=)
c.8895A= (p.Ala2965=)
c.5079A= (p.Ala1693=)
c.4632A= (p.Ala1544=)
c.3969A= (p.Ala1323=)
c.8484A= (p.Ala2828=)
5g.13768976G>ACA359201304DNAH5c.9881C>T (p.Ala3294Val)
c.9836C>T (p.Ala3279Val)
n.593C>T
c.9989C>T (p.Ala3330Val)
c.8894C>T (p.Ala2965Val)
c.5078C>T (p.Ala1693Val)
c.4631C>T (p.Ala1544Val)
c.3968C>T (p.Ala1323Val)
c.8483C>T (p.Ala2828Val)
5g.13768976G>CCA359201306DNAH5c.9881C>G (p.Ala3294Gly)
c.9836C>G (p.Ala3279Gly)
n.593C>G
c.9989C>G (p.Ala3330Gly)
c.8894C>G (p.Ala2965Gly)
c.5078C>G (p.Ala1693Gly)
c.4631C>G (p.Ala1544Gly)
c.3968C>G (p.Ala1323Gly)
c.8483C>G (p.Ala2828Gly)
 gnomAD v4
5g.13768976G>TCA359201305DNAH5c.9881C>A (p.Ala3294Glu)
c.9836C>A (p.Ala3279Glu)
n.593C>A
c.9989C>A (p.Ala3330Glu)
c.8894C>A (p.Ala2965Glu)
c.5078C>A (p.Ala1693Glu)
c.4631C>A (p.Ala1544Glu)
c.3968C>A (p.Ala1323Glu)
c.8483C>A (p.Ala2828Glu)
5g.13768977C>ACA359201307DNAH5c.9880G>T (p.Ala3294Ser)
c.9835G>T (p.Ala3279Ser)
n.592G>T
c.9988G>T (p.Ala3330Ser)
c.8893G>T (p.Ala2965Ser)
c.5077G>T (p.Ala1693Ser)
c.4630G>T (p.Ala1544Ser)
c.3967G>T (p.Ala1323Ser)
c.8482G>T (p.Ala2828Ser)
5g.13768977C=CA1528430332DNAH5c.9880G= (p.Ala3294=)
c.9835G= (p.Ala3279=)
n.592G=
c.9988G= (p.Ala3330=)
c.8893G= (p.Ala2965=)
c.5077G= (p.Ala1693=)
c.4630G= (p.Ala1544=)
c.3967G= (p.Ala1323=)
c.8482G= (p.Ala2828=)
5g.13768977C>GCA359201310DNAH5c.9880G>C (p.Ala3294Pro)
c.9835G>C (p.Ala3279Pro)
n.592G>C
c.9988G>C (p.Ala3330Pro)
c.8893G>C (p.Ala2965Pro)
c.5077G>C (p.Ala1693Pro)
c.4630G>C (p.Ala1544Pro)
c.3967G>C (p.Ala1323Pro)
c.8482G>C (p.Ala2828Pro)
5g.13768977C>TCA113930739DNAH5c.9880G>A (p.Ala3294Thr)
c.9835G>A (p.Ala3279Thr)
n.592G>A
c.9988G>A (p.Ala3330Thr)
c.8893G>A (p.Ala2965Thr)
c.5077G>A (p.Ala1693Thr)
c.4630G>A (p.Ala1544Thr)
c.3967G>A (p.Ala1323Thr)
c.8482G>A (p.Ala2828Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13768978C>ACA359201323DNAH5c.9879G>T (p.Glu3293Asp)
c.9834G>T (p.Glu3278Asp)
n.591G>T
c.9987G>T (p.Glu3329Asp)
c.8892G>T (p.Glu2964Asp)
c.5076G>T (p.Glu1692Asp)
c.4629G>T (p.Glu1543Asp)
c.3966G>T (p.Glu1322Asp)
c.8481G>T (p.Glu2827Asp)
5g.13768978C=CA1528430333DNAH5c.9879G= (p.Glu3293=)
c.9834G= (p.Glu3278=)
n.591G=
c.9987G= (p.Glu3329=)
c.8892G= (p.Glu2964=)
c.5076G= (p.Glu1692=)
c.4629G= (p.Glu1543=)
c.3966G= (p.Glu1322=)
c.8481G= (p.Glu2827=)
5g.13768978C>GCA359201327DNAH5c.9879G>C (p.Glu3293Asp)
c.9834G>C (p.Glu3278Asp)
n.591G>C
c.9987G>C (p.Glu3329Asp)
c.8892G>C (p.Glu2964Asp)
c.5076G>C (p.Glu1692Asp)
c.4629G>C (p.Glu1543Asp)
c.3966G>C (p.Glu1322Asp)
c.8481G>C (p.Glu2827Asp)
5g.13768978C>TCA3202410DNAH5c.9879G>A (p.Glu3293=)
c.9834G>A (p.Glu3278=)
n.591G>A
c.9987G>A (p.Glu3329=)
c.8892G>A (p.Glu2964=)
c.5076G>A (p.Glu1692=)
c.4629G>A (p.Glu1543=)
c.3966G>A (p.Glu1322=)
c.8481G>A (p.Glu2827=)
 ClinVar dbSNP ExAC gnomAD v4
5g.13768979T>ACA359201330DNAH5c.9878A>T (p.Glu3293Val)
c.9833A>T (p.Glu3278Val)
n.590A>T
c.9986A>T (p.Glu3329Val)
c.8891A>T (p.Glu2964Val)
c.5075A>T (p.Glu1692Val)
c.4628A>T (p.Glu1543Val)
c.3965A>T (p.Glu1322Val)
c.8480A>T (p.Glu2827Val)
 gnomAD v4
5g.13768979T>CCA3202411DNAH5c.9878A>G (p.Glu3293Gly)
c.9833A>G (p.Glu3278Gly)
n.590A>G
c.9986A>G (p.Glu3329Gly)
c.8891A>G (p.Glu2964Gly)
c.5075A>G (p.Glu1692Gly)
c.4628A>G (p.Glu1543Gly)
c.3965A>G (p.Glu1322Gly)
c.8480A>G (p.Glu2827Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768979T>GCA3202412DNAH5c.9878A>C (p.Glu3293Ala)
c.9833A>C (p.Glu3278Ala)
n.590A>C
c.9986A>C (p.Glu3329Ala)
c.8891A>C (p.Glu2964Ala)
c.5075A>C (p.Glu1692Ala)
c.4628A>C (p.Glu1543Ala)
c.3965A>C (p.Glu1322Ala)
c.8480A>C (p.Glu2827Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13768979T=CA1528430334DNAH5c.9878A= (p.Glu3293=)
c.9833A= (p.Glu3278=)
n.590A=
c.9986A= (p.Glu3329=)
c.8891A= (p.Glu2964=)
c.5075A= (p.Glu1692=)
c.4628A= (p.Glu1543=)
c.3965A= (p.Glu1322=)
c.8480A= (p.Glu2827=)
5g.13768980C>ACA359201339DNAH5c.9877G>T (p.Glu3293Ter)
c.9832G>T (p.Glu3278Ter)
n.589G>T
c.9985G>T (p.Glu3329Ter)
c.8890G>T (p.Glu2964Ter)
c.5074G>T (p.Glu1692Ter)
c.4627G>T (p.Glu1543Ter)
c.3964G>T (p.Glu1322Ter)
c.8479G>T (p.Glu2827Ter)
 ClinVar dbSNP
5g.13768980C>GCA359201340DNAH5c.9877G>C (p.Glu3293Gln)
c.9832G>C (p.Glu3278Gln)
n.589G>C
c.9985G>C (p.Glu3329Gln)
c.8890G>C (p.Glu2964Gln)
c.5074G>C (p.Glu1692Gln)
c.4627G>C (p.Glu1543Gln)
c.3964G>C (p.Glu1322Gln)
c.8479G>C (p.Glu2827Gln)
5g.13768980C>TCA359201341DNAH5c.9877G>A (p.Glu3293Lys)
c.9832G>A (p.Glu3278Lys)
n.589G>A
c.9985G>A (p.Glu3329Lys)
c.8890G>A (p.Glu2964Lys)
c.5074G>A (p.Glu1692Lys)
c.4627G>A (p.Glu1543Lys)
c.3964G>A (p.Glu1322Lys)
c.8479G>A (p.Glu2827Lys)
5g.13768980_13768981delinsCTCA1528430335DNAH5c.9876_9877delinsAG (p.Glu3292=)
c.9831_9832delinsAG (p.Glu3277=)
n.588_589delinsAG
c.9984_9985delinsAG (p.Glu3328=)
c.8889_8890delinsAG (p.Glu2963=)
c.5073_5074delinsAG (p.Glu1691=)
c.4626_4627delinsAG (p.Glu1542=)
c.3963_3964delinsAG (p.Glu1321=)
c.8478_8479delinsAG (p.Glu2826=)
5g.13768981T>ACA359201349DNAH5c.9876A>T (p.Glu3292Asp)
c.9831A>T (p.Glu3277Asp)
n.588A>T
c.9984A>T (p.Glu3328Asp)
c.8889A>T (p.Glu2963Asp)
c.5073A>T (p.Glu1691Asp)
c.4626A>T (p.Glu1542Asp)
c.3963A>T (p.Glu1321Asp)
c.8478A>T (p.Glu2826Asp)
5g.13768981T>CCA443253537DNAH5c.9876A>G (p.Glu3292=)
c.9831A>G (p.Glu3277=)
n.588A>G
c.9984A>G (p.Glu3328=)
c.8889A>G (p.Glu2963=)
c.5073A>G (p.Glu1691=)
c.4626A>G (p.Glu1542=)
c.3963A>G (p.Glu1321=)
c.8478A>G (p.Glu2826=)
5g.13768981T>GCA359201343DNAH5c.9876A>C (p.Glu3292Asp)
c.9831A>C (p.Glu3277Asp)
n.588A>C
c.9984A>C (p.Glu3328Asp)
c.8889A>C (p.Glu2963Asp)
c.5073A>C (p.Glu1691Asp)
c.4626A>C (p.Glu1542Asp)
c.3963A>C (p.Glu1321Asp)
c.8478A>C (p.Glu2826Asp)
5g.13768982delCA3202413DNAH5c.9876del (p.Glu3293ArgfsTer?)
c.9831del (p.Glu3278ArgfsTer?)
n.588del
c.9984del (p.Glu3329ArgfsTer?)
c.8889del (p.Glu2964ArgfsTer?)
c.5073del (p.Glu1692ArgfsTer?)
c.4626del (p.Glu1543ArgfsTer?)
c.3963del (p.Glu1322ArgfsTer?)
c.8478del (p.Glu2827ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768982T>ACA359201362DNAH5c.9875A>T (p.Glu3292Val)
c.9830A>T (p.Glu3277Val)
n.587A>T
c.9983A>T (p.Glu3328Val)
c.8888A>T (p.Glu2963Val)
c.5072A>T (p.Glu1691Val)
c.4625A>T (p.Glu1542Val)
c.3962A>T (p.Glu1321Val)
c.8477A>T (p.Glu2826Val)
5g.13768982T>CCA359201363DNAH5c.9875A>G (p.Glu3292Gly)
c.9830A>G (p.Glu3277Gly)
n.587A>G
c.9983A>G (p.Glu3328Gly)
c.8888A>G (p.Glu2963Gly)
c.5072A>G (p.Glu1691Gly)
c.4625A>G (p.Glu1542Gly)
c.3962A>G (p.Glu1321Gly)
c.8477A>G (p.Glu2826Gly)
5g.13768982T>GCA359201365DNAH5c.9875A>C (p.Glu3292Ala)
c.9830A>C (p.Glu3277Ala)
n.587A>C
c.9983A>C (p.Glu3328Ala)
c.8888A>C (p.Glu2963Ala)
c.5072A>C (p.Glu1691Ala)
c.4625A>C (p.Glu1542Ala)
c.3962A>C (p.Glu1321Ala)
c.8477A>C (p.Glu2826Ala)
5g.13768983C>ACA359201371DNAH5c.9874G>T (p.Glu3292Ter)
c.9829G>T (p.Glu3277Ter)
n.586G>T
c.9982G>T (p.Glu3328Ter)
c.8887G>T (p.Glu2963Ter)
c.5071G>T (p.Glu1691Ter)
c.4624G>T (p.Glu1542Ter)
c.3961G>T (p.Glu1321Ter)
c.8476G>T (p.Glu2826Ter)
5g.13768983C>GCA359201374DNAH5c.9874G>C (p.Glu3292Gln)
c.9829G>C (p.Glu3277Gln)
n.586G>C
c.9982G>C (p.Glu3328Gln)
c.8887G>C (p.Glu2963Gln)
c.5071G>C (p.Glu1691Gln)
c.4624G>C (p.Glu1542Gln)
c.3961G>C (p.Glu1321Gln)
c.8476G>C (p.Glu2826Gln)
 gnomAD v4
5g.13768983C>TCA359201377DNAH5c.9874G>A (p.Glu3292Lys)
c.9829G>A (p.Glu3277Lys)
n.586G>A
c.9982G>A (p.Glu3328Lys)
c.8887G>A (p.Glu2963Lys)
c.5071G>A (p.Glu1691Lys)
c.4624G>A (p.Glu1542Lys)
c.3961G>A (p.Glu1321Lys)
c.8476G>A (p.Glu2826Lys)
5g.13768984T>ACA359201382DNAH5c.9873A>T (p.Leu3291Phe)
c.9828A>T (p.Leu3276Phe)
n.585A>T
c.9981A>T (p.Leu3327Phe)
c.8886A>T (p.Leu2962Phe)
c.5070A>T (p.Leu1690Phe)
c.4623A>T (p.Leu1541Phe)
c.3960A>T (p.Leu1320Phe)
c.8475A>T (p.Leu2825Phe)
5g.13768984T>CCA443253553DNAH5c.9873A>G (p.Leu3291=)
c.9828A>G (p.Leu3276=)
n.585A>G
c.9981A>G (p.Leu3327=)
c.8886A>G (p.Leu2962=)
c.5070A>G (p.Leu1690=)
c.4623A>G (p.Leu1541=)
c.3960A>G (p.Leu1320=)
c.8475A>G (p.Leu2825=)
5g.13768984T>GCA359201388DNAH5c.9873A>C (p.Leu3291Phe)
c.9828A>C (p.Leu3276Phe)
n.585A>C
c.9981A>C (p.Leu3327Phe)
c.8886A>C (p.Leu2962Phe)
c.5070A>C (p.Leu1690Phe)
c.4623A>C (p.Leu1541Phe)
c.3960A>C (p.Leu1320Phe)
c.8475A>C (p.Leu2825Phe)
5g.13768985A>CCA359201391DNAH5c.9872T>G (p.Leu3291Ter)
c.9827T>G (p.Leu3276Ter)
n.584T>G
c.9980T>G (p.Leu3327Ter)
c.8885T>G (p.Leu2962Ter)
c.5069T>G (p.Leu1690Ter)
c.4622T>G (p.Leu1541Ter)
c.3959T>G (p.Leu1320Ter)
c.8474T>G (p.Leu2825Ter)
 gnomAD v4
5g.13768985A>GCA359201393DNAH5c.9872T>C (p.Leu3291Ser)
c.9827T>C (p.Leu3276Ser)
n.584T>C
c.9980T>C (p.Leu3327Ser)
c.8885T>C (p.Leu2962Ser)
c.5069T>C (p.Leu1690Ser)
c.4622T>C (p.Leu1541Ser)
c.3959T>C (p.Leu1320Ser)
c.8474T>C (p.Leu2825Ser)
5g.13768985A>TCA359201395DNAH5c.9872T>A (p.Leu3291Ter)
c.9827T>A (p.Leu3276Ter)
n.584T>A
c.9980T>A (p.Leu3327Ter)
c.8885T>A (p.Leu2962Ter)
c.5069T>A (p.Leu1690Ter)
c.4622T>A (p.Leu1541Ter)
c.3959T>A (p.Leu1320Ter)
c.8474T>A (p.Leu2825Ter)
5g.13768986A=CA1528430336DNAH5c.9871T= (p.Leu3291=)
c.9826T= (p.Leu3276=)
n.583T=
c.9979T= (p.Leu3327=)
c.8884T= (p.Leu2962=)
c.5068T= (p.Leu1690=)
c.4621T= (p.Leu1541=)
c.3958T= (p.Leu1320=)
c.8473T= (p.Leu2825=)
5g.13768986A>CCA359201397DNAH5c.9871T>G (p.Leu3291Val)
c.9826T>G (p.Leu3276Val)
n.583T>G
c.9979T>G (p.Leu3327Val)
c.8884T>G (p.Leu2962Val)
c.5068T>G (p.Leu1690Val)
c.4621T>G (p.Leu1541Val)
c.3958T>G (p.Leu1320Val)
c.8473T>G (p.Leu2825Val)
 dbSNP gnomAD v3 gnomAD v4
5g.13768986A>GCA443253568DNAH5c.9871T>C (p.Leu3291=)
c.9826T>C (p.Leu3276=)
n.583T>C
c.9979T>C (p.Leu3327=)
c.8884T>C (p.Leu2962=)
c.5068T>C (p.Leu1690=)
c.4621T>C (p.Leu1541=)
c.3958T>C (p.Leu1320=)
c.8473T>C (p.Leu2825=)
 ClinVar dbSNP
5g.13768986A>TCA359201398DNAH5c.9871T>A (p.Leu3291Ile)
c.9826T>A (p.Leu3276Ile)
n.583T>A
c.9979T>A (p.Leu3327Ile)
c.8884T>A (p.Leu2962Ile)
c.5068T>A (p.Leu1690Ile)
c.4621T>A (p.Leu1541Ile)
c.3958T>A (p.Leu1320Ile)
c.8473T>A (p.Leu2825Ile)
5g.13768987A=CA1528430337DNAH5c.9870T= (p.Ala3290=)
c.9825T= (p.Ala3275=)
n.582T=
c.9978T= (p.Ala3326=)
c.8883T= (p.Ala2961=)
c.5067T= (p.Ala1689=)
c.4620T= (p.Ala1540=)
c.3957T= (p.Ala1319=)
c.8472T= (p.Ala2824=)
5g.13768987A>CCA443253594DNAH5c.9870T>G (p.Ala3290=)
c.9825T>G (p.Ala3275=)
n.582T>G
c.9978T>G (p.Ala3326=)
c.8883T>G (p.Ala2961=)
c.5067T>G (p.Ala1689=)
c.4620T>G (p.Ala1540=)
c.3957T>G (p.Ala1319=)
c.8472T>G (p.Ala2824=)
5g.13768987A>GCA443253595DNAH5c.9870T>C (p.Ala3290=)
c.9825T>C (p.Ala3275=)
n.582T>C
c.9978T>C (p.Ala3326=)
c.8883T>C (p.Ala2961=)
c.5067T>C (p.Ala1689=)
c.4620T>C (p.Ala1540=)
c.3957T>C (p.Ala1319=)
c.8472T>C (p.Ala2824=)
5g.13768987A>TCA443253591DNAH5c.9870T>A (p.Ala3290=)
c.9825T>A (p.Ala3275=)
n.582T>A
c.9978T>A (p.Ala3326=)
c.8883T>A (p.Ala2961=)
c.5067T>A (p.Ala1689=)
c.4620T>A (p.Ala1540=)
c.3957T>A (p.Ala1319=)
c.8472T>A (p.Ala2824=)
 dbSNP
5g.13768988G>ACA359201403DNAH5c.9869C>T (p.Ala3290Val)
c.9824C>T (p.Ala3275Val)
n.581C>T
c.9977C>T (p.Ala3326Val)
c.8882C>T (p.Ala2961Val)
c.5066C>T (p.Ala1689Val)
c.4619C>T (p.Ala1540Val)
c.3956C>T (p.Ala1319Val)
c.8471C>T (p.Ala2824Val)
5g.13768988G>CCA359201407DNAH5c.9869C>G (p.Ala3290Gly)
c.9824C>G (p.Ala3275Gly)
n.581C>G
c.9977C>G (p.Ala3326Gly)
c.8882C>G (p.Ala2961Gly)
c.5066C>G (p.Ala1689Gly)
c.4619C>G (p.Ala1540Gly)
c.3956C>G (p.Ala1319Gly)
c.8471C>G (p.Ala2824Gly)
 dbSNP
5g.13768988G=CA1528430338DNAH5c.9869C= (p.Ala3290=)
c.9824C= (p.Ala3275=)
n.581C=
c.9977C= (p.Ala3326=)
c.8882C= (p.Ala2961=)
c.5066C= (p.Ala1689=)
c.4619C= (p.Ala1540=)
c.3956C= (p.Ala1319=)
c.8471C= (p.Ala2824=)
5g.13768988G>TCA359201417DNAH5c.9869C>A (p.Ala3290Asp)
c.9824C>A (p.Ala3275Asp)
n.581C>A
c.9977C>A (p.Ala3326Asp)
c.8882C>A (p.Ala2961Asp)
c.5066C>A (p.Ala1689Asp)
c.4619C>A (p.Ala1540Asp)
c.3956C>A (p.Ala1319Asp)
c.8471C>A (p.Ala2824Asp)
5g.13768989C>ACA359201420DNAH5c.9868G>T (p.Ala3290Ser)
c.9823G>T (p.Ala3275Ser)
n.580G>T
c.9976G>T (p.Ala3326Ser)
c.8881G>T (p.Ala2961Ser)
c.5065G>T (p.Ala1689Ser)
c.4618G>T (p.Ala1540Ser)
c.3955G>T (p.Ala1319Ser)
c.8470G>T (p.Ala2824Ser)
5g.13768989C>GCA359201421DNAH5c.9868G>C (p.Ala3290Pro)
c.9823G>C (p.Ala3275Pro)
n.580G>C
c.9976G>C (p.Ala3326Pro)
c.8881G>C (p.Ala2961Pro)
c.5065G>C (p.Ala1689Pro)
c.4618G>C (p.Ala1540Pro)
c.3955G>C (p.Ala1319Pro)
c.8470G>C (p.Ala2824Pro)
5g.13768989C>TCA359201423DNAH5c.9868G>A (p.Ala3290Thr)
c.9823G>A (p.Ala3275Thr)
n.580G>A
c.9976G>A (p.Ala3326Thr)
c.8881G>A (p.Ala2961Thr)
c.5065G>A (p.Ala1689Thr)
c.4618G>A (p.Ala1540Thr)
c.3955G>A (p.Ala1319Thr)
c.8470G>A (p.Ala2824Thr)
 gnomAD v4
5g.13768989_13768990delinsCTCA1528430339DNAH5c.9867_9868delinsAG (p.Pro3289=)
c.9822_9823delinsAG (p.Pro3274=)
n.579_580delinsAG
c.9975_9976delinsAG (p.Pro3325=)
c.8880_8881delinsAG (p.Pro2960=)
c.5064_5065delinsAG (p.Pro1688=)
c.4617_4618delinsAG (p.Pro1539=)
c.3954_3955delinsAG (p.Pro1318=)
c.8469_8470delinsAG (p.Pro2823=)
5g.13768990delCA1073407715DNAH5c.9867del (p.Ala3290LeufsTer2)
c.9822del (p.Ala3275LeufsTer2)
n.579del
c.9975del (p.Ala3326LeufsTer2)
c.8880del (p.Ala2961LeufsTer2)
c.5064del (p.Ala1689LeufsTer2)
c.4617del (p.Ala1540LeufsTer2)
c.3954del (p.Ala1319LeufsTer2)
c.8469del (p.Ala2824LeufsTer2)
 dbSNP gnomAD v3 gnomAD v4
5g.13768990T>ACA443253608DNAH5c.9867A>T (p.Pro3289=)
c.9822A>T (p.Pro3274=)
n.579A>T
c.9975A>T (p.Pro3325=)
c.8880A>T (p.Pro2960=)
c.5064A>T (p.Pro1688=)
c.4617A>T (p.Pro1539=)
c.3954A>T (p.Pro1318=)
c.8469A>T (p.Pro2823=)
5g.13768990T>CCA443253612DNAH5c.9867A>G (p.Pro3289=)
c.9822A>G (p.Pro3274=)
n.579A>G
c.9975A>G (p.Pro3325=)
c.8880A>G (p.Pro2960=)
c.5064A>G (p.Pro1688=)
c.4617A>G (p.Pro1539=)
c.3954A>G (p.Pro1318=)
c.8469A>G (p.Pro2823=)
 gnomAD v4
5g.13768990T>GCA443253614DNAH5c.9867A>C (p.Pro3289=)
c.9822A>C (p.Pro3274=)
n.579A>C
c.9975A>C (p.Pro3325=)
c.8880A>C (p.Pro2960=)
c.5064A>C (p.Pro1688=)
c.4617A>C (p.Pro1539=)
c.3954A>C (p.Pro1318=)
c.8469A>C (p.Pro2823=)
5g.13768991G>ACA359201425DNAH5c.9866C>T (p.Pro3289Leu)
c.9821C>T (p.Pro3274Leu)
n.578C>T
c.9974C>T (p.Pro3325Leu)
c.8879C>T (p.Pro2960Leu)
c.5063C>T (p.Pro1688Leu)
c.4616C>T (p.Pro1539Leu)
c.3953C>T (p.Pro1318Leu)
c.8468C>T (p.Pro2823Leu)
5g.13768991G>CCA359201428DNAH5c.9866C>G (p.Pro3289Arg)
c.9821C>G (p.Pro3274Arg)
n.578C>G
c.9974C>G (p.Pro3325Arg)
c.8879C>G (p.Pro2960Arg)
c.5063C>G (p.Pro1688Arg)
c.4616C>G (p.Pro1539Arg)
c.3953C>G (p.Pro1318Arg)
c.8468C>G (p.Pro2823Arg)
5g.13768991G>TCA359201433DNAH5c.9866C>A (p.Pro3289Gln)
c.9821C>A (p.Pro3274Gln)
n.578C>A
c.9974C>A (p.Pro3325Gln)
c.8879C>A (p.Pro2960Gln)
c.5063C>A (p.Pro1688Gln)
c.4616C>A (p.Pro1539Gln)
c.3953C>A (p.Pro1318Gln)
c.8468C>A (p.Pro2823Gln)
5g.13768992G>ACA359201437DNAH5c.9865C>T (p.Pro3289Ser)
c.9820C>T (p.Pro3274Ser)
n.577C>T
c.9973C>T (p.Pro3325Ser)
c.8878C>T (p.Pro2960Ser)
c.5062C>T (p.Pro1688Ser)
c.4615C>T (p.Pro1539Ser)
c.3952C>T (p.Pro1318Ser)
c.8467C>T (p.Pro2823Ser)
 COSMIC
5g.13768992G>CCA359201447DNAH5c.9865C>G (p.Pro3289Ala)
c.9820C>G (p.Pro3274Ala)
n.577C>G
c.9973C>G (p.Pro3325Ala)
c.8878C>G (p.Pro2960Ala)
c.5062C>G (p.Pro1688Ala)
c.4615C>G (p.Pro1539Ala)
c.3952C>G (p.Pro1318Ala)
c.8467C>G (p.Pro2823Ala)
5g.13768992G>TCA359201452DNAH5c.9865C>A (p.Pro3289Thr)
c.9820C>A (p.Pro3274Thr)
n.577C>A
c.9973C>A (p.Pro3325Thr)
c.8878C>A (p.Pro2960Thr)
c.5062C>A (p.Pro1688Thr)
c.4615C>A (p.Pro1539Thr)
c.3952C>A (p.Pro1318Thr)
c.8467C>A (p.Pro2823Thr)
5g.13768993T>ACA359201460DNAH5c.9864A>T (p.Lys3288Asn)
c.9819A>T (p.Lys3273Asn)
n.576A>T
c.9972A>T (p.Lys3324Asn)
c.8877A>T (p.Lys2959Asn)
c.5061A>T (p.Lys1687Asn)
c.4614A>T (p.Lys1538Asn)
c.3951A>T (p.Lys1317Asn)
c.8466A>T (p.Lys2822Asn)
5g.13768993T>CCA3202414DNAH5c.9864A>G (p.Lys3288=)
c.9819A>G (p.Lys3273=)
n.576A>G
c.9972A>G (p.Lys3324=)
c.8877A>G (p.Lys2959=)
c.5061A>G (p.Lys1687=)
c.4614A>G (p.Lys1538=)
c.3951A>G (p.Lys1317=)
c.8466A>G (p.Lys2822=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768993T>GCA359201457DNAH5c.9864A>C (p.Lys3288Asn)
c.9819A>C (p.Lys3273Asn)
n.576A>C
c.9972A>C (p.Lys3324Asn)
c.8877A>C (p.Lys2959Asn)
c.5061A>C (p.Lys1687Asn)
c.4614A>C (p.Lys1538Asn)
c.3951A>C (p.Lys1317Asn)
c.8466A>C (p.Lys2822Asn)
5g.13768993T=CA1528430340DNAH5c.9864A= (p.Lys3288=)
c.9819A= (p.Lys3273=)
n.576A=
c.9972A= (p.Lys3324=)
c.8877A= (p.Lys2959=)
c.5061A= (p.Lys1687=)
c.4614A= (p.Lys1538=)
c.3951A= (p.Lys1317=)
c.8466A= (p.Lys2822=)
5g.13768996dupCA2695204134DNAH5c.9864dup (p.Pro3289ThrfsTer?)
c.9819dup (p.Pro3274ThrfsTer?)
n.576dup
c.9972dup (p.Pro3325ThrfsTer?)
c.8877dup (p.Pro2960ThrfsTer?)
c.5061dup (p.Pro1688ThrfsTer?)
c.4614dup (p.Pro1539ThrfsTer?)
c.3951dup (p.Pro1318ThrfsTer?)
c.8466dup (p.Pro2823ThrfsTer?)
5g.13768994T>ACA359201462DNAH5c.9863A>T (p.Lys3288Ile)
c.9818A>T (p.Lys3273Ile)
n.575A>T
c.9971A>T (p.Lys3324Ile)
c.8876A>T (p.Lys2959Ile)
c.5060A>T (p.Lys1687Ile)
c.4613A>T (p.Lys1538Ile)
c.3950A>T (p.Lys1317Ile)
c.8465A>T (p.Lys2822Ile)
5g.13768994T>CCA359201463DNAH5c.9863A>G (p.Lys3288Arg)
c.9818A>G (p.Lys3273Arg)
n.575A>G
c.9971A>G (p.Lys3324Arg)
c.8876A>G (p.Lys2959Arg)
c.5060A>G (p.Lys1687Arg)
c.4613A>G (p.Lys1538Arg)
c.3950A>G (p.Lys1317Arg)
c.8465A>G (p.Lys2822Arg)
5g.13768994T>GCA359201465DNAH5c.9863A>C (p.Lys3288Thr)
c.9818A>C (p.Lys3273Thr)
n.575A>C
c.9971A>C (p.Lys3324Thr)
c.8876A>C (p.Lys2959Thr)
c.5060A>C (p.Lys1687Thr)
c.4613A>C (p.Lys1538Thr)
c.3950A>C (p.Lys1317Thr)
c.8465A>C (p.Lys2822Thr)
5g.13768995T>ACA359201470DNAH5c.9862A>T (p.Lys3288Ter)
c.9817A>T (p.Lys3273Ter)
n.574A>T
c.9970A>T (p.Lys3324Ter)
c.8875A>T (p.Lys2959Ter)
c.5059A>T (p.Lys1687Ter)
c.4612A>T (p.Lys1538Ter)
c.3949A>T (p.Lys1317Ter)
c.8464A>T (p.Lys2822Ter)
5g.13768995T>CCA359201477DNAH5c.9862A>G (p.Lys3288Glu)
c.9817A>G (p.Lys3273Glu)
n.574A>G
c.9970A>G (p.Lys3324Glu)
c.8875A>G (p.Lys2959Glu)
c.5059A>G (p.Lys1687Glu)
c.4612A>G (p.Lys1538Glu)
c.3949A>G (p.Lys1317Glu)
c.8464A>G (p.Lys2822Glu)
5g.13768995T>GCA359201483DNAH5c.9862A>C (p.Lys3288Gln)
c.9817A>C (p.Lys3273Gln)
n.574A>C
c.9970A>C (p.Lys3324Gln)
c.8875A>C (p.Lys2959Gln)
c.5059A>C (p.Lys1687Gln)
c.4612A>C (p.Lys1538Gln)
c.3949A>C (p.Lys1317Gln)
c.8464A>C (p.Lys2822Gln)
5g.13768996T>ACA443253660DNAH5c.9861A>T (p.Ala3287=)
c.9816A>T (p.Ala3272=)
n.573A>T
c.9969A>T (p.Ala3323=)
c.8874A>T (p.Ala2958=)
c.5058A>T (p.Ala1686=)
c.4611A>T (p.Ala1537=)
c.3948A>T (p.Ala1316=)
c.8463A>T (p.Ala2821=)
5g.13768996T>CCA443253661DNAH5c.9861A>G (p.Ala3287=)
c.9816A>G (p.Ala3272=)
n.573A>G
c.9969A>G (p.Ala3323=)
c.8874A>G (p.Ala2958=)
c.5058A>G (p.Ala1686=)
c.4611A>G (p.Ala1537=)
c.3948A>G (p.Ala1316=)
c.8463A>G (p.Ala2821=)
5g.13768996T>GCA443253662DNAH5c.9861A>C (p.Ala3287=)
c.9816A>C (p.Ala3272=)
n.573A>C
c.9969A>C (p.Ala3323=)
c.8874A>C (p.Ala2958=)
c.5058A>C (p.Ala1686=)
c.4611A>C (p.Ala1537=)
c.3948A>C (p.Ala1316=)
c.8463A>C (p.Ala2821=)
5g.13769000_13769002delCA2673269718DNAH5c.9859_9861del (p.Ala3287del)
c.9814_9816del (p.Ala3272del)
n.571_573del
c.9967_9969del (p.Ala3323del)
c.8872_8874del (p.Ala2958del)
c.5056_5058del (p.Ala1686del)
c.4609_4611del (p.Ala1537del)
c.3946_3948del (p.Ala1316del)
c.8461_8463del (p.Ala2821del)
 gnomAD v4
5g.13768997G>ACA359201497DNAH5c.9860C>T (p.Ala3287Val)
c.9815C>T (p.Ala3272Val)
n.572C>T
c.9968C>T (p.Ala3323Val)
c.8873C>T (p.Ala2958Val)
c.5057C>T (p.Ala1686Val)
c.4610C>T (p.Ala1537Val)
c.3947C>T (p.Ala1316Val)
c.8462C>T (p.Ala2821Val)
 gnomAD v4
5g.13768997G>CCA359201500DNAH5c.9860C>G (p.Ala3287Gly)
c.9815C>G (p.Ala3272Gly)
n.572C>G
c.9968C>G (p.Ala3323Gly)
c.8873C>G (p.Ala2958Gly)
c.5057C>G (p.Ala1686Gly)
c.4610C>G (p.Ala1537Gly)
c.3947C>G (p.Ala1316Gly)
c.8462C>G (p.Ala2821Gly)
 gnomAD v4
5g.13768997G>TCA359201501DNAH5c.9860C>A (p.Ala3287Glu)
c.9815C>A (p.Ala3272Glu)
n.572C>A
c.9968C>A (p.Ala3323Glu)
c.8873C>A (p.Ala2958Glu)
c.5057C>A (p.Ala1686Glu)
c.4610C>A (p.Ala1537Glu)
c.3947C>A (p.Ala1316Glu)
c.8462C>A (p.Ala2821Glu)
 gnomAD v4
5g.13768998C>ACA359201504DNAH5c.9859G>T (p.Ala3287Ser)
c.9814G>T (p.Ala3272Ser)
n.571G>T
c.9967G>T (p.Ala3323Ser)
c.8872G>T (p.Ala2958Ser)
c.5056G>T (p.Ala1686Ser)
c.4609G>T (p.Ala1537Ser)
c.3946G>T (p.Ala1316Ser)
c.8461G>T (p.Ala2821Ser)
5g.13768998C=CA1528430341DNAH5c.9859G= (p.Ala3287=)
c.9814G= (p.Ala3272=)
n.571G=
c.9967G= (p.Ala3323=)
c.8872G= (p.Ala2958=)
c.5056G= (p.Ala1686=)
c.4609G= (p.Ala1537=)
c.3946G= (p.Ala1316=)
c.8461G= (p.Ala2821=)
5g.13768998C>GCA359201506DNAH5c.9859G>C (p.Ala3287Pro)
c.9814G>C (p.Ala3272Pro)
n.571G>C
c.9967G>C (p.Ala3323Pro)
c.8872G>C (p.Ala2958Pro)
c.5056G>C (p.Ala1686Pro)
c.4609G>C (p.Ala1537Pro)
c.3946G>C (p.Ala1316Pro)
c.8461G>C (p.Ala2821Pro)
5g.13768998C>TCA3202415DNAH5c.9859G>A (p.Ala3287Thr)
c.9814G>A (p.Ala3272Thr)
n.571G>A
c.9967G>A (p.Ala3323Thr)
c.8872G>A (p.Ala2958Thr)
c.5056G>A (p.Ala1686Thr)
c.4609G>A (p.Ala1537Thr)
c.3946G>A (p.Ala1316Thr)
c.8461G>A (p.Ala2821Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13768999T>ACA443253677DNAH5c.9858A>T (p.Ala3286=)
c.9813A>T (p.Ala3271=)
n.570A>T
c.9966A>T (p.Ala3322=)
c.8871A>T (p.Ala2957=)
c.5055A>T (p.Ala1685=)
c.4608A>T (p.Ala1536=)
c.3945A>T (p.Ala1315=)
c.8460A>T (p.Ala2820=)
5g.13768999T>CCA443253682DNAH5c.9858A>G (p.Ala3286=)
c.9813A>G (p.Ala3271=)
n.570A>G
c.9966A>G (p.Ala3322=)
c.8871A>G (p.Ala2957=)
c.5055A>G (p.Ala1685=)
c.4608A>G (p.Ala1536=)
c.3945A>G (p.Ala1315=)
c.8460A>G (p.Ala2820=)
 gnomAD v4
5g.13768999T>GCA443253679DNAH5c.9858A>C (p.Ala3286=)
c.9813A>C (p.Ala3271=)
n.570A>C
c.9966A>C (p.Ala3322=)
c.8871A>C (p.Ala2957=)
c.5055A>C (p.Ala1685=)
c.4608A>C (p.Ala1536=)
c.3945A>C (p.Ala1315=)
c.8460A>C (p.Ala2820=)
5g.13769000G>ACA113930771DNAH5c.9857C>T (p.Ala3286Val)
c.9812C>T (p.Ala3271Val)
n.569C>T
c.9965C>T (p.Ala3322Val)
c.8870C>T (p.Ala2957Val)
c.5054C>T (p.Ala1685Val)
c.4607C>T (p.Ala1536Val)
c.3944C>T (p.Ala1315Val)
c.8459C>T (p.Ala2820Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13769000G>CCA359201512DNAH5c.9857C>G (p.Ala3286Gly)
c.9812C>G (p.Ala3271Gly)
n.569C>G
c.9965C>G (p.Ala3322Gly)
c.8870C>G (p.Ala2957Gly)
c.5054C>G (p.Ala1685Gly)
c.4607C>G (p.Ala1536Gly)
c.3944C>G (p.Ala1315Gly)
c.8459C>G (p.Ala2820Gly)
5g.13769000G=CA1528430342DNAH5c.9857C= (p.Ala3286=)
c.9812C= (p.Ala3271=)
n.569C=
c.9965C= (p.Ala3322=)
c.8870C= (p.Ala2957=)
c.5054C= (p.Ala1685=)
c.4607C= (p.Ala1536=)
c.3944C= (p.Ala1315=)
c.8459C= (p.Ala2820=)
5g.13769000G>TCA359201507DNAH5c.9857C>A (p.Ala3286Glu)
c.9812C>A (p.Ala3271Glu)
n.569C>A
c.9965C>A (p.Ala3322Glu)
c.8870C>A (p.Ala2957Glu)
c.5054C>A (p.Ala1685Glu)
c.4607C>A (p.Ala1536Glu)
c.3944C>A (p.Ala1315Glu)
c.8459C>A (p.Ala2820Glu)
5g.13769001C>ACA359201524DNAH5c.9856G>T (p.Ala3286Ser)
c.9811G>T (p.Ala3271Ser)
n.568G>T
c.9964G>T (p.Ala3322Ser)
c.8869G>T (p.Ala2957Ser)
c.5053G>T (p.Ala1685Ser)
c.4606G>T (p.Ala1536Ser)
c.3943G>T (p.Ala1315Ser)
c.8458G>T (p.Ala2820Ser)
 dbSNP
5g.13769001C=CA1528430343DNAH5c.9856G= (p.Ala3286=)
c.9811G= (p.Ala3271=)
n.568G=
c.9964G= (p.Ala3322=)
c.8869G= (p.Ala2957=)
c.5053G= (p.Ala1685=)
c.4606G= (p.Ala1536=)
c.3943G= (p.Ala1315=)
c.8458G= (p.Ala2820=)
5g.13769001C>GCA359201519DNAH5c.9856G>C (p.Ala3286Pro)
c.9811G>C (p.Ala3271Pro)
n.568G>C
c.9964G>C (p.Ala3322Pro)
c.8869G>C (p.Ala2957Pro)
c.5053G>C (p.Ala1685Pro)
c.4606G>C (p.Ala1536Pro)
c.3943G>C (p.Ala1315Pro)
c.8458G>C (p.Ala2820Pro)
5g.13769001C>TCA3202416DNAH5c.9856G>A (p.Ala3286Thr)
c.9811G>A (p.Ala3271Thr)
n.568G>A
c.9964G>A (p.Ala3322Thr)
c.8869G>A (p.Ala2957Thr)
c.5053G>A (p.Ala1685Thr)
c.4606G>A (p.Ala1536Thr)
c.3943G>A (p.Ala1315Thr)
c.8458G>A (p.Ala2820Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13769002T>ACA359201526DNAH5c.9855A>T (p.Glu3285Asp)
c.9810A>T (p.Glu3270Asp)
n.567A>T
c.9963A>T (p.Glu3321Asp)
c.8868A>T (p.Glu2956Asp)
c.5052A>T (p.Glu1684Asp)
c.4605A>T (p.Glu1535Asp)
c.3942A>T (p.Glu1314Asp)
c.8457A>T (p.Glu2819Asp)
5g.13769002T>CCA443253694DNAH5c.9855A>G (p.Glu3285=)
c.9810A>G (p.Glu3270=)
n.567A>G
c.9963A>G (p.Glu3321=)
c.8868A>G (p.Glu2956=)
c.5052A>G (p.Glu1684=)
c.4605A>G (p.Glu1535=)
c.3942A>G (p.Glu1314=)
c.8457A>G (p.Glu2819=)
 dbSNP gnomAD v3 gnomAD v4
5g.13769002T>GCA359201542DNAH5c.9855A>C (p.Glu3285Asp)
c.9810A>C (p.Glu3270Asp)
n.567A>C
c.9963A>C (p.Glu3321Asp)
c.8868A>C (p.Glu2956Asp)
c.5052A>C (p.Glu1684Asp)
c.4605A>C (p.Glu1535Asp)
c.3942A>C (p.Glu1314Asp)
c.8457A>C (p.Glu2819Asp)
5g.13769002T=CA1528430344DNAH5c.9855A= (p.Glu3285=)
c.9810A= (p.Glu3270=)
n.567A=
c.9963A= (p.Glu3321=)
c.8868A= (p.Glu2956=)
c.5052A= (p.Glu1684=)
c.4605A= (p.Glu1535=)
c.3942A= (p.Glu1314=)
c.8457A= (p.Glu2819=)
5g.13769003T>ACA359201546DNAH5c.9854A>T (p.Glu3285Val)
c.9809A>T (p.Glu3270Val)
n.566A>T
c.9962A>T (p.Glu3321Val)
c.8867A>T (p.Glu2956Val)
c.5051A>T (p.Glu1684Val)
c.4604A>T (p.Glu1535Val)
c.3941A>T (p.Glu1314Val)
c.8456A>T (p.Glu2819Val)
5g.13769003T>CCA359201549DNAH5c.9854A>G (p.Glu3285Gly)
c.9809A>G (p.Glu3270Gly)
n.566A>G
c.9962A>G (p.Glu3321Gly)
c.8867A>G (p.Glu2956Gly)
c.5051A>G (p.Glu1684Gly)
c.4604A>G (p.Glu1535Gly)
c.3941A>G (p.Glu1314Gly)
c.8456A>G (p.Glu2819Gly)
5g.13769003T>GCA359201555DNAH5c.9854A>C (p.Glu3285Ala)
c.9809A>C (p.Glu3270Ala)
n.566A>C
c.9962A>C (p.Glu3321Ala)
c.8867A>C (p.Glu2956Ala)
c.5051A>C (p.Glu1684Ala)
c.4604A>C (p.Glu1535Ala)
c.3941A>C (p.Glu1314Ala)
c.8456A>C (p.Glu2819Ala)
5g.13769004C>ACA359201562DNAH5c.9853G>T (p.Glu3285Ter)
c.9808G>T (p.Glu3270Ter)
n.565G>T
c.9961G>T (p.Glu3321Ter)
c.8866G>T (p.Glu2956Ter)
c.5050G>T (p.Glu1684Ter)
c.4603G>T (p.Glu1535Ter)
c.3940G>T (p.Glu1314Ter)
c.8455G>T (p.Glu2819Ter)
5g.13769004C>GCA359201566DNAH5c.9853G>C (p.Glu3285Gln)
c.9808G>C (p.Glu3270Gln)
n.565G>C
c.9961G>C (p.Glu3321Gln)
c.8866G>C (p.Glu2956Gln)
c.5050G>C (p.Glu1684Gln)
c.4603G>C (p.Glu1535Gln)
c.3940G>C (p.Glu1314Gln)
c.8455G>C (p.Glu2819Gln)
5g.13769004C>TCA359201568DNAH5c.9853G>A (p.Glu3285Lys)
c.9808G>A (p.Glu3270Lys)
n.565G>A
c.9961G>A (p.Glu3321Lys)
c.8866G>A (p.Glu2956Lys)
c.5050G>A (p.Glu1684Lys)
c.4603G>A (p.Glu1535Lys)
c.3940G>A (p.Glu1314Lys)
c.8455G>A (p.Glu2819Lys)
 COSMIC
5g.13769005C>ACA443253709DNAH5c.9852G>T (p.Leu3284=)
c.9807G>T (p.Leu3269=)
n.564G>T
c.9960G>T (p.Leu3320=)
c.8865G>T (p.Leu2955=)
c.5049G>T (p.Leu1683=)
c.4602G>T (p.Leu1534=)
c.3939G>T (p.Leu1313=)
c.8454G>T (p.Leu2818=)
 COSMIC
5g.13769005C=CA1528430345DNAH5c.9852G= (p.Leu3284=)
c.9807G= (p.Leu3269=)
n.564G=
c.9960G= (p.Leu3320=)
c.8865G= (p.Leu2955=)
c.5049G= (p.Leu1683=)
c.4602G= (p.Leu1534=)
c.3939G= (p.Leu1313=)
c.8454G= (p.Leu2818=)
5g.13769005C>GCA443253710DNAH5c.9852G>C (p.Leu3284=)
c.9807G>C (p.Leu3269=)
n.564G>C
c.9960G>C (p.Leu3320=)
c.8865G>C (p.Leu2955=)
c.5049G>C (p.Leu1683=)
c.4602G>C (p.Leu1534=)
c.3939G>C (p.Leu1313=)
c.8454G>C (p.Leu2818=)
5g.13769005C>TCA443253711DNAH5c.9852G>A (p.Leu3284=)
c.9807G>A (p.Leu3269=)
n.564G>A
c.9960G>A (p.Leu3320=)
c.8865G>A (p.Leu2955=)
c.5049G>A (p.Leu1683=)
c.4602G>A (p.Leu1534=)
c.3939G>A (p.Leu1313=)
c.8454G>A (p.Leu2818=)
 dbSNP gnomAD v3 gnomAD v4
5g.13769006A=CA1528430346DNAH5c.9851T= (p.Leu3284=)
c.9806T= (p.Leu3269=)
n.563T=
c.9959T= (p.Leu3320=)
c.8864T= (p.Leu2955=)
c.5048T= (p.Leu1683=)
c.4601T= (p.Leu1534=)
c.3938T= (p.Leu1313=)
c.8453T= (p.Leu2818=)
5g.13769006A>CCA359201571DNAH5c.9851T>G (p.Leu3284Arg)
c.9806T>G (p.Leu3269Arg)
n.563T>G
c.9959T>G (p.Leu3320Arg)
c.8864T>G (p.Leu2955Arg)
c.5048T>G (p.Leu1683Arg)
c.4601T>G (p.Leu1534Arg)
c.3938T>G (p.Leu1313Arg)
c.8453T>G (p.Leu2818Arg)
5g.13769006A>GCA3202417DNAH5c.9851T>C (p.Leu3284Pro)
c.9806T>C (p.Leu3269Pro)
n.563T>C
c.9959T>C (p.Leu3320Pro)
c.8864T>C (p.Leu2955Pro)
c.5048T>C (p.Leu1683Pro)
c.4601T>C (p.Leu1534Pro)
c.3938T>C (p.Leu1313Pro)
c.8453T>C (p.Leu2818Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13769006A>TCA359201573DNAH5c.9851T>A (p.Leu3284Gln)
c.9806T>A (p.Leu3269Gln)
n.563T>A
c.9959T>A (p.Leu3320Gln)
c.8864T>A (p.Leu2955Gln)
c.5048T>A (p.Leu1683Gln)
c.4601T>A (p.Leu1534Gln)
c.3938T>A (p.Leu1313Gln)
c.8453T>A (p.Leu2818Gln)
5g.13769007G>ACA443253718DNAH5c.9850C>T (p.Leu3284=)
c.9805C>T (p.Leu3269=)
n.562C>T
c.9958C>T (p.Leu3320=)
c.8863C>T (p.Leu2955=)
c.5047C>T (p.Leu1683=)
c.4600C>T (p.Leu1534=)
c.3937C>T (p.Leu1313=)
c.8452C>T (p.Leu2818=)
5g.13769007G>CCA359201576DNAH5c.9850C>G (p.Leu3284Val)
c.9805C>G (p.Leu3269Val)
n.562C>G
c.9958C>G (p.Leu3320Val)
c.8863C>G (p.Leu2955Val)
c.5047C>G (p.Leu1683Val)
c.4600C>G (p.Leu1534Val)
c.3937C>G (p.Leu1313Val)
c.8452C>G (p.Leu2818Val)
5g.13769007G=CA1528430347DNAH5c.9850C= (p.Leu3284=)
c.9805C= (p.Leu3269=)
n.562C=
c.9958C= (p.Leu3320=)
c.8863C= (p.Leu2955=)
c.5047C= (p.Leu1683=)
c.4600C= (p.Leu1534=)
c.3937C= (p.Leu1313=)
c.8452C= (p.Leu2818=)
5g.13769007G>TCA359201574DNAH5c.9850C>A (p.Leu3284Met)
c.9805C>A (p.Leu3269Met)
n.562C>A
c.9958C>A (p.Leu3320Met)
c.8863C>A (p.Leu2955Met)
c.5047C>A (p.Leu1683Met)
c.4600C>A (p.Leu1534Met)
c.3937C>A (p.Leu1313Met)
c.8452C>A (p.Leu2818Met)
 ClinVar dbSNP gnomAD v4
5g.13769008T>ACA359201579DNAH5c.9849A>T (p.Lys3283Asn)
c.9804A>T (p.Lys3268Asn)
n.561A>T
c.9957A>T (p.Lys3319Asn)
c.8862A>T (p.Lys2954Asn)
c.5046A>T (p.Lys1682Asn)
c.4599A>T (p.Lys1533Asn)
c.3936A>T (p.Lys1312Asn)
c.8451A>T (p.Lys2817Asn)
5g.13769008T>CCA443253724DNAH5c.9849A>G (p.Lys3283=)
c.9804A>G (p.Lys3268=)
n.561A>G
c.9957A>G (p.Lys3319=)
c.8862A>G (p.Lys2954=)
c.5046A>G (p.Lys1682=)
c.4599A>G (p.Lys1533=)
c.3936A>G (p.Lys1312=)
c.8451A>G (p.Lys2817=)
 ClinVar
5g.13769008T>GCA359201585DNAH5c.9849A>C (p.Lys3283Asn)
c.9804A>C (p.Lys3268Asn)
n.561A>C
c.9957A>C (p.Lys3319Asn)
c.8862A>C (p.Lys2954Asn)
c.5046A>C (p.Lys1682Asn)
c.4599A>C (p.Lys1533Asn)
c.3936A>C (p.Lys1312Asn)
c.8451A>C (p.Lys2817Asn)
5g.13769009T>ACA359201588DNAH5c.9848A>T (p.Lys3283Ile)
c.9803A>T (p.Lys3268Ile)
n.560A>T
c.9956A>T (p.Lys3319Ile)
c.8861A>T (p.Lys2954Ile)
c.5045A>T (p.Lys1682Ile)
c.4598A>T (p.Lys1533Ile)
c.3935A>T (p.Lys1312Ile)
c.8450A>T (p.Lys2817Ile)
5g.13769009T>CCA359201591DNAH5c.9848A>G (p.Lys3283Arg)
c.9803A>G (p.Lys3268Arg)
n.560A>G
c.9956A>G (p.Lys3319Arg)
c.8861A>G (p.Lys2954Arg)
c.5045A>G (p.Lys1682Arg)
c.4598A>G (p.Lys1533Arg)
c.3935A>G (p.Lys1312Arg)
c.8450A>G (p.Lys2817Arg)
5g.13769009T>GCA359201596DNAH5c.9848A>C (p.Lys3283Thr)
c.9803A>C (p.Lys3268Thr)
n.560A>C
c.9956A>C (p.Lys3319Thr)
c.8861A>C (p.Lys2954Thr)
c.5045A>C (p.Lys1682Thr)
c.4598A>C (p.Lys1533Thr)
c.3935A>C (p.Lys1312Thr)
c.8450A>C (p.Lys2817Thr)
5g.13769010T>ACA359201599DNAH5c.9847A>T (p.Lys3283Ter)
c.9802A>T (p.Lys3268Ter)
n.559A>T
c.9955A>T (p.Lys3319Ter)
c.8860A>T (p.Lys2954Ter)
c.5044A>T (p.Lys1682Ter)
c.4597A>T (p.Lys1533Ter)
c.3934A>T (p.Lys1312Ter)
c.8449A>T (p.Lys2817Ter)
5g.13769010T>CCA359201603DNAH5c.9847A>G (p.Lys3283Glu)
c.9802A>G (p.Lys3268Glu)
n.559A>G
c.9955A>G (p.Lys3319Glu)
c.8860A>G (p.Lys2954Glu)
c.5044A>G (p.Lys1682Glu)
c.4597A>G (p.Lys1533Glu)
c.3934A>G (p.Lys1312Glu)
c.8449A>G (p.Lys2817Glu)
5g.13769010T>GCA359201606DNAH5c.9847A>C (p.Lys3283Gln)
c.9802A>C (p.Lys3268Gln)
n.559A>C
c.9955A>C (p.Lys3319Gln)
c.8860A>C (p.Lys2954Gln)
c.5044A>C (p.Lys1682Gln)
c.4597A>C (p.Lys1533Gln)
c.3934A>C (p.Lys1312Gln)
c.8449A>C (p.Lys2817Gln)
5g.13769011T>ACA359201612DNAH5c.9846A>T (p.Glu3282Asp)
c.9801A>T (p.Glu3267Asp)
n.558A>T
c.9954A>T (p.Glu3318Asp)
c.8859A>T (p.Glu2953Asp)
c.5043A>T (p.Glu1681Asp)
c.4596A>T (p.Glu1532Asp)
c.3933A>T (p.Glu1311Asp)
c.8448A>T (p.Glu2816Asp)
5g.13769011T>CCA443253739DNAH5c.9846A>G (p.Glu3282=)
c.9801A>G (p.Glu3267=)
n.558A>G
c.9954A>G (p.Glu3318=)
c.8859A>G (p.Glu2953=)
c.5043A>G (p.Glu1681=)
c.4596A>G (p.Glu1532=)
c.3933A>G (p.Glu1311=)
c.8448A>G (p.Glu2816=)
 gnomAD v4
5g.13769011T>GCA359201616DNAH5c.9846A>C (p.Glu3282Asp)
c.9801A>C (p.Glu3267Asp)
n.558A>C
c.9954A>C (p.Glu3318Asp)
c.8859A>C (p.Glu2953Asp)
c.5043A>C (p.Glu1681Asp)
c.4596A>C (p.Glu1532Asp)
c.3933A>C (p.Glu1311Asp)
c.8448A>C (p.Glu2816Asp)
5g.13769012T>ACA359201620DNAH5c.9845A>T (p.Glu3282Val)
c.9800A>T (p.Glu3267Val)
n.557A>T
c.9953A>T (p.Glu3318Val)
c.8858A>T (p.Glu2953Val)
c.5042A>T (p.Glu1681Val)
c.4595A>T (p.Glu1532Val)
c.3932A>T (p.Glu1311Val)
c.8447A>T (p.Glu2816Val)
5g.13769012T>CCA359201625DNAH5c.9845A>G (p.Glu3282Gly)
c.9800A>G (p.Glu3267Gly)
n.557A>G
c.9953A>G (p.Glu3318Gly)
c.8858A>G (p.Glu2953Gly)
c.5042A>G (p.Glu1681Gly)
c.4595A>G (p.Glu1532Gly)
c.3932A>G (p.Glu1311Gly)
c.8447A>G (p.Glu2816Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13769012T>GCA359201627DNAH5c.9845A>C (p.Glu3282Ala)
c.9800A>C (p.Glu3267Ala)
n.557A>C
c.9953A>C (p.Glu3318Ala)
c.8858A>C (p.Glu2953Ala)
c.5042A>C (p.Glu1681Ala)
c.4595A>C (p.Glu1532Ala)
c.3932A>C (p.Glu1311Ala)
c.8447A>C (p.Glu2816Ala)
5g.13769012T=CA1528430348DNAH5c.9845A= (p.Glu3282=)
c.9800A= (p.Glu3267=)
n.557A=
c.9953A= (p.Glu3318=)
c.8858A= (p.Glu2953=)
c.5042A= (p.Glu1681=)
c.4595A= (p.Glu1532=)
c.3932A= (p.Glu1311=)
c.8447A= (p.Glu2816=)
5g.13769013C>ACA359201640DNAH5c.9844G>T (p.Glu3282Ter)
c.9799G>T (p.Glu3267Ter)
n.556G>T
c.9952G>T (p.Glu3318Ter)
c.8857G>T (p.Glu2953Ter)
c.5041G>T (p.Glu1681Ter)
c.4594G>T (p.Glu1532Ter)
c.3931G>T (p.Glu1311Ter)
c.8446G>T (p.Glu2816Ter)
5g.13769013C>GCA359201636DNAH5c.9844G>C (p.Glu3282Gln)
c.9799G>C (p.Glu3267Gln)
n.556G>C
c.9952G>C (p.Glu3318Gln)
c.8857G>C (p.Glu2953Gln)
c.5041G>C (p.Glu1681Gln)
c.4594G>C (p.Glu1532Gln)
c.3931G>C (p.Glu1311Gln)
c.8446G>C (p.Glu2816Gln)
5g.13769013C>TCA359201630DNAH5c.9844G>A (p.Glu3282Lys)
c.9799G>A (p.Glu3267Lys)
n.556G>A
c.9952G>A (p.Glu3318Lys)
c.8857G>A (p.Glu2953Lys)
c.5041G>A (p.Glu1681Lys)
c.4594G>A (p.Glu1532Lys)
c.3931G>A (p.Glu1311Lys)
c.8446G>A (p.Glu2816Lys)
 COSMIC
5g.13769014T>ACA359201655DNAH5c.9843A>T (p.Glu3281Asp)
c.9798A>T (p.Glu3266Asp)
n.555A>T
c.9951A>T (p.Glu3317Asp)
c.8856A>T (p.Glu2952Asp)
c.5040A>T (p.Glu1680Asp)
c.4593A>T (p.Glu1531Asp)
c.3930A>T (p.Glu1310Asp)
c.8445A>T (p.Glu2815Asp)
5g.13769014T>CCA443253767DNAH5c.9843A>G (p.Glu3281=)
c.9798A>G (p.Glu3266=)
n.555A>G
c.9951A>G (p.Glu3317=)
c.8856A>G (p.Glu2952=)
c.5040A>G (p.Glu1680=)
c.4593A>G (p.Glu1531=)
c.3930A>G (p.Glu1310=)
c.8445A>G (p.Glu2815=)
5g.13769014T>GCA359201663DNAH5c.9843A>C (p.Glu3281Asp)
c.9798A>C (p.Glu3266Asp)
n.555A>C
c.9951A>C (p.Glu3317Asp)
c.8856A>C (p.Glu2952Asp)
c.5040A>C (p.Glu1680Asp)
c.4593A>C (p.Glu1531Asp)
c.3930A>C (p.Glu1310Asp)
c.8445A>C (p.Glu2815Asp)
5g.13769015T>ACA359201669DNAH5c.9842A>T (p.Glu3281Val)
c.9797A>T (p.Glu3266Val)
n.554A>T
c.9950A>T (p.Glu3317Val)
c.8855A>T (p.Glu2952Val)
c.5039A>T (p.Glu1680Val)
c.4592A>T (p.Glu1531Val)
c.3929A>T (p.Glu1310Val)
c.8444A>T (p.Glu2815Val)
5g.13769015T>CCA359201671DNAH5c.9842A>G (p.Glu3281Gly)
c.9797A>G (p.Glu3266Gly)
n.554A>G
c.9950A>G (p.Glu3317Gly)
c.8855A>G (p.Glu2952Gly)
c.5039A>G (p.Glu1680Gly)
c.4592A>G (p.Glu1531Gly)
c.3929A>G (p.Glu1310Gly)
c.8444A>G (p.Glu2815Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13769015T>GCA359201674DNAH5c.9842A>C (p.Glu3281Ala)
c.9797A>C (p.Glu3266Ala)
n.554A>C
c.9950A>C (p.Glu3317Ala)
c.8855A>C (p.Glu2952Ala)
c.5039A>C (p.Glu1680Ala)
c.4592A>C (p.Glu1531Ala)
c.3929A>C (p.Glu1310Ala)
c.8444A>C (p.Glu2815Ala)
5g.13769015T=CA1528430349DNAH5c.9842A= (p.Glu3281=)
c.9797A= (p.Glu3266=)
n.554A=
c.9950A= (p.Glu3317=)
c.8855A= (p.Glu2952=)
c.5039A= (p.Glu1680=)
c.4592A= (p.Glu1531=)
c.3929A= (p.Glu1310=)
c.8444A= (p.Glu2815=)
5g.13769016C>ACA359201679DNAH5c.9841G>T (p.Glu3281Ter)
c.9796G>T (p.Glu3266Ter)
n.553G>T
c.9949G>T (p.Glu3317Ter)
c.8854G>T (p.Glu2952Ter)
c.5038G>T (p.Glu1680Ter)
c.4591G>T (p.Glu1531Ter)
c.3928G>T (p.Glu1310Ter)
c.8443G>T (p.Glu2815Ter)
5g.13769016C=CA1528430350DNAH5c.9841G= (p.Glu3281=)
c.9796G= (p.Glu3266=)
n.553G=
c.9949G= (p.Glu3317=)
c.8854G= (p.Glu2952=)
c.5038G= (p.Glu1680=)
c.4591G= (p.Glu1531=)
c.3928G= (p.Glu1310=)
c.8443G= (p.Glu2815=)
5g.13769016C>GCA359201681DNAH5c.9841G>C (p.Glu3281Gln)
c.9796G>C (p.Glu3266Gln)
n.553G>C
c.9949G>C (p.Glu3317Gln)
c.8854G>C (p.Glu2952Gln)
c.5038G>C (p.Glu1680Gln)
c.4591G>C (p.Glu1531Gln)
c.3928G>C (p.Glu1310Gln)
c.8443G>C (p.Glu2815Gln)
5g.13769016C>TCA359201685DNAH5c.9841G>A (p.Glu3281Lys)
c.9796G>A (p.Glu3266Lys)
n.553G>A
c.9949G>A (p.Glu3317Lys)
c.8854G>A (p.Glu2952Lys)
c.5038G>A (p.Glu1680Lys)
c.4591G>A (p.Glu1531Lys)
c.3928G>A (p.Glu1310Lys)
c.8443G>A (p.Glu2815Lys)
 dbSNP COSMIC
5g.13769017A=CA1528430351DNAH5c.9840T= (p.Ala3280=)
c.9795T= (p.Ala3265=)
n.552T=
c.9948T= (p.Ala3316=)
c.8853T= (p.Ala2951=)
c.5037T= (p.Ala1679=)
c.4590T= (p.Ala1530=)
c.3927T= (p.Ala1309=)
c.8442T= (p.Ala2814=)
5g.13769017A>CCA443253776DNAH5c.9840T>G (p.Ala3280=)
c.9795T>G (p.Ala3265=)
n.552T>G
c.9948T>G (p.Ala3316=)
c.8853T>G (p.Ala2951=)
c.5037T>G (p.Ala1679=)
c.4590T>G (p.Ala1530=)
c.3927T>G (p.Ala1309=)
c.8442T>G (p.Ala2814=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13769017A>GCA443253778DNAH5c.9840T>C (p.Ala3280=)
c.9795T>C (p.Ala3265=)
n.552T>C
c.9948T>C (p.Ala3316=)
c.8853T>C (p.Ala2951=)
c.5037T>C (p.Ala1679=)
c.4590T>C (p.Ala1530=)
c.3927T>C (p.Ala1309=)
c.8442T>C (p.Ala2814=)
 ClinVar dbSNP
5g.13769017A>TCA443253779DNAH5c.9840T>A (p.Ala3280=)
c.9795T>A (p.Ala3265=)
n.552T>A
c.9948T>A (p.Ala3316=)
c.8853T>A (p.Ala2951=)
c.5037T>A (p.Ala1679=)
c.4590T>A (p.Ala1530=)
c.3927T>A (p.Ala1309=)
c.8442T>A (p.Ala2814=)
5g.13769018G>ACA359201690DNAH5c.9839C>T (p.Ala3280Val)
c.9794C>T (p.Ala3265Val)
n.551C>T
c.9947C>T (p.Ala3316Val)
c.8852C>T (p.Ala2951Val)
c.5036C>T (p.Ala1679Val)
c.4589C>T (p.Ala1530Val)
c.3926C>T (p.Ala1309Val)
c.8441C>T (p.Ala2814Val)
5g.13769018G>CCA359201692DNAH5c.9839C>G (p.Ala3280Gly)
c.9794C>G (p.Ala3265Gly)
n.551C>G
c.9947C>G (p.Ala3316Gly)
c.8852C>G (p.Ala2951Gly)
c.5036C>G (p.Ala1679Gly)
c.4589C>G (p.Ala1530Gly)
c.3926C>G (p.Ala1309Gly)
c.8441C>G (p.Ala2814Gly)
5g.13769018G>TCA359201694DNAH5c.9839C>A (p.Ala3280Asp)
c.9794C>A (p.Ala3265Asp)
n.551C>A
c.9947C>A (p.Ala3316Asp)
c.8852C>A (p.Ala2951Asp)
c.5036C>A (p.Ala1679Asp)
c.4589C>A (p.Ala1530Asp)
c.3926C>A (p.Ala1309Asp)
c.8441C>A (p.Ala2814Asp)
5g.13769019C>ACA3202418DNAH5c.9838G>T (p.Ala3280Ser)
c.9793G>T (p.Ala3265Ser)
n.550G>T
c.9946G>T (p.Ala3316Ser)
c.8851G>T (p.Ala2951Ser)
c.5035G>T (p.Ala1679Ser)
c.4588G>T (p.Ala1530Ser)
c.3925G>T (p.Ala1309Ser)
c.8440G>T (p.Ala2814Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13769019C=CA1528430352DNAH5c.9838G= (p.Ala3280=)
c.9793G= (p.Ala3265=)
n.550G=
c.9946G= (p.Ala3316=)
c.8851G= (p.Ala2951=)
c.5035G= (p.Ala1679=)
c.4588G= (p.Ala1530=)
c.3925G= (p.Ala1309=)
c.8440G= (p.Ala2814=)
5g.13769019C>GCA359201699DNAH5c.9838G>C (p.Ala3280Pro)
c.9793G>C (p.Ala3265Pro)
n.550G>C
c.9946G>C (p.Ala3316Pro)
c.8851G>C (p.Ala2951Pro)
c.5035G>C (p.Ala1679Pro)
c.4588G>C (p.Ala1530Pro)
c.3925G>C (p.Ala1309Pro)
c.8440G>C (p.Ala2814Pro)
5g.13769019C>TCA359201700DNAH5c.9838G>A (p.Ala3280Thr)
c.9793G>A (p.Ala3265Thr)
n.550G>A
c.9946G>A (p.Ala3316Thr)
c.8851G>A (p.Ala2951Thr)
c.5035G>A (p.Ala1679Thr)
c.4588G>A (p.Ala1530Thr)
c.3925G>A (p.Ala1309Thr)
c.8440G>A (p.Ala2814Thr)
 gnomAD v4
5g.13769020A=CA1528430353DNAH5c.9837T= (p.Ile3279=)
c.9792T= (p.Ile3264=)
n.549T=
c.9945T= (p.Ile3315=)
c.8850T= (p.Ile2950=)
c.5034T= (p.Ile1678=)
c.4587T= (p.Ile1529=)
c.3924T= (p.Ile1308=)
c.8439T= (p.Ile2813=)
5g.13769020A>CCA359201701DNAH5c.9837T>G (p.Ile3279Met)
c.9792T>G (p.Ile3264Met)
n.549T>G
c.9945T>G (p.Ile3315Met)
c.8850T>G (p.Ile2950Met)
c.5034T>G (p.Ile1678Met)
c.4587T>G (p.Ile1529Met)
c.3924T>G (p.Ile1308Met)
c.8439T>G (p.Ile2813Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13769020A>GCA113930782DNAH5c.9837T>C (p.Ile3279=)
c.9792T>C (p.Ile3264=)
n.549T>C
c.9945T>C (p.Ile3315=)
c.8850T>C (p.Ile2950=)
c.5034T>C (p.Ile1678=)
c.4587T>C (p.Ile1529=)
c.3924T>C (p.Ile1308=)
c.8439T>C (p.Ile2813=)
 dbSNP
5g.13769020A>TCA443253781DNAH5c.9837T>A (p.Ile3279=)
c.9792T>A (p.Ile3264=)
n.549T>A
c.9945T>A (p.Ile3315=)
c.8850T>A (p.Ile2950=)
c.5034T>A (p.Ile1678=)
c.4587T>A (p.Ile1529=)
c.3924T>A (p.Ile1308=)
c.8439T>A (p.Ile2813=)
5g.13769021A=CA1528430354DNAH5c.9836T= (p.Ile3279=)
c.9791T= (p.Ile3264=)
n.548T=
c.9944T= (p.Ile3315=)
c.8849T= (p.Ile2950=)
c.5033T= (p.Ile1678=)
c.4586T= (p.Ile1529=)
c.3923T= (p.Ile1308=)
c.8438T= (p.Ile2813=)
5g.13769021A>CCA359201704DNAH5c.9836T>G (p.Ile3279Ser)
c.9791T>G (p.Ile3264Ser)
n.548T>G
c.9944T>G (p.Ile3315Ser)
c.8849T>G (p.Ile2950Ser)
c.5033T>G (p.Ile1678Ser)
c.4586T>G (p.Ile1529Ser)
c.3923T>G (p.Ile1308Ser)
c.8438T>G (p.Ile2813Ser)
5g.13769021A>GCA3202419DNAH5c.9836T>C (p.Ile3279Thr)
c.9791T>C (p.Ile3264Thr)
n.548T>C
c.9944T>C (p.Ile3315Thr)
c.8849T>C (p.Ile2950Thr)
c.5033T>C (p.Ile1678Thr)
c.4586T>C (p.Ile1529Thr)
c.3923T>C (p.Ile1308Thr)
c.8438T>C (p.Ile2813Thr)
 dbSNP ExAC gnomAD v2
5g.13769021A>TCA359201710DNAH5c.9836T>A (p.Ile3279Asn)
c.9791T>A (p.Ile3264Asn)
n.548T>A
c.9944T>A (p.Ile3315Asn)
c.8849T>A (p.Ile2950Asn)
c.5033T>A (p.Ile1678Asn)
c.4586T>A (p.Ile1529Asn)
c.3923T>A (p.Ile1308Asn)
c.8438T>A (p.Ile2813Asn)
5g.13769022T>ACA359201719DNAH5c.9835A>T (p.Ile3279Phe)
c.9790A>T (p.Ile3264Phe)
n.547A>T
c.9943A>T (p.Ile3315Phe)
c.8848A>T (p.Ile2950Phe)
c.5032A>T (p.Ile1678Phe)
c.4585A>T (p.Ile1529Phe)
c.3922A>T (p.Ile1308Phe)
c.8437A>T (p.Ile2813Phe)
5g.13769022T>CCA3202420DNAH5c.9835A>G (p.Ile3279Val)
c.9790A>G (p.Ile3264Val)
n.547A>G
c.9943A>G (p.Ile3315Val)
c.8848A>G (p.Ile2950Val)
c.5032A>G (p.Ile1678Val)
c.4585A>G (p.Ile1529Val)
c.3922A>G (p.Ile1308Val)
c.8437A>G (p.Ile2813Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13769022T>GCA359201722DNAH5c.9835A>C (p.Ile3279Leu)
c.9790A>C (p.Ile3264Leu)
n.547A>C
c.9943A>C (p.Ile3315Leu)
c.8848A>C (p.Ile2950Leu)
c.5032A>C (p.Ile1678Leu)
c.4585A>C (p.Ile1529Leu)
c.3922A>C (p.Ile1308Leu)
c.8437A>C (p.Ile2813Leu)
5g.13769022T=CA1528430355DNAH5c.9835A= (p.Ile3279=)
c.9790A= (p.Ile3264=)
n.547A=
c.9943A= (p.Ile3315=)
c.8848A= (p.Ile2950=)
c.5032A= (p.Ile1678=)
c.4585A= (p.Ile1529=)
c.3922A= (p.Ile1308=)
c.8437A= (p.Ile2813=)
5g.13769023G>ACA443253783DNAH5c.9834C>T (p.Ala3278=)
c.9789C>T (p.Ala3263=)
n.546C>T
c.9942C>T (p.Ala3314=)
c.8847C>T (p.Ala2949=)
c.5031C>T (p.Ala1677=)
c.4584C>T (p.Ala1528=)
c.3921C>T (p.Ala1307=)
c.8436C>T (p.Ala2812=)
5g.13769023G>CCA443253784DNAH5c.9834C>G (p.Ala3278=)
c.9789C>G (p.Ala3263=)
n.546C>G
c.9942C>G (p.Ala3314=)
c.8847C>G (p.Ala2949=)
c.5031C>G (p.Ala1677=)
c.4584C>G (p.Ala1528=)
c.3921C>G (p.Ala1307=)
c.8436C>G (p.Ala2812=)
5g.13769023G>TCA443253785DNAH5c.9834C>A (p.Ala3278=)
c.9789C>A (p.Ala3263=)
n.546C>A
c.9942C>A (p.Ala3314=)
c.8847C>A (p.Ala2949=)
c.5031C>A (p.Ala1677=)
c.4584C>A (p.Ala1528=)
c.3921C>A (p.Ala1307=)
c.8436C>A (p.Ala2812=)
5g.13769024G>ACA359201728DNAH5c.9833C>T (p.Ala3278Val)
c.9788C>T (p.Ala3263Val)
n.545C>T
c.9941C>T (p.Ala3314Val)
c.8846C>T (p.Ala2949Val)
c.5030C>T (p.Ala1677Val)
c.4583C>T (p.Ala1528Val)
c.3920C>T (p.Ala1307Val)
c.8435C>T (p.Ala2812Val)
 COSMIC
5g.13769024G>CCA359201730DNAH5c.9833C>G (p.Ala3278Gly)
c.9788C>G (p.Ala3263Gly)
n.545C>G
c.9941C>G (p.Ala3314Gly)
c.8846C>G (p.Ala2949Gly)
c.5030C>G (p.Ala1677Gly)
c.4583C>G (p.Ala1528Gly)
c.3920C>G (p.Ala1307Gly)
c.8435C>G (p.Ala2812Gly)
5g.13769024G>TCA359201746DNAH5c.9833C>A (p.Ala3278Asp)
c.9788C>A (p.Ala3263Asp)
n.545C>A
c.9941C>A (p.Ala3314Asp)
c.8846C>A (p.Ala2949Asp)
c.5030C>A (p.Ala1677Asp)
c.4583C>A (p.Ala1528Asp)
c.3920C>A (p.Ala1307Asp)
c.8435C>A (p.Ala2812Asp)
5g.13769025C>ACA359201748DNAH5c.9832G>T (p.Ala3278Ser)
c.9787G>T (p.Ala3263Ser)
n.544G>T
c.9940G>T (p.Ala3314Ser)
c.8845G>T (p.Ala2949Ser)
c.5029G>T (p.Ala1677Ser)
c.4582G>T (p.Ala1528Ser)
c.3919G>T (p.Ala1307Ser)
c.8434G>T (p.Ala2812Ser)
5g.13769025C>GCA359201750DNAH5c.9832G>C (p.Ala3278Pro)
c.9787G>C (p.Ala3263Pro)
n.544G>C
c.9940G>C (p.Ala3314Pro)
c.8845G>C (p.Ala2949Pro)
c.5029G>C (p.Ala1677Pro)
c.4582G>C (p.Ala1528Pro)
c.3919G>C (p.Ala1307Pro)
c.8434G>C (p.Ala2812Pro)
5g.13769025C>TCA359201758DNAH5c.9832G>A (p.Ala3278Thr)
c.9787G>A (p.Ala3263Thr)
n.544G>A
c.9940G>A (p.Ala3314Thr)
c.8845G>A (p.Ala2949Thr)
c.5029G>A (p.Ala1677Thr)
c.4582G>A (p.Ala1528Thr)
c.3919G>A (p.Ala1307Thr)
c.8434G>A (p.Ala2812Thr)
 COSMIC
5g.13769026T>ACA359201761DNAH5c.9831A>T (p.Lys3277Asn)
c.9786A>T (p.Lys3262Asn)
n.543A>T
c.9939A>T (p.Lys3313Asn)
c.8844A>T (p.Lys2948Asn)
c.5028A>T (p.Lys1676Asn)
c.4581A>T (p.Lys1527Asn)
c.3918A>T (p.Lys1306Asn)
c.8433A>T (p.Lys2811Asn)
5g.13769026T>CCA443253787DNAH5c.9831A>G (p.Lys3277=)
c.9786A>G (p.Lys3262=)
n.543A>G
c.9939A>G (p.Lys3313=)
c.8844A>G (p.Lys2948=)
c.5028A>G (p.Lys1676=)
c.4581A>G (p.Lys1527=)
c.3918A>G (p.Lys1306=)
c.8433A>G (p.Lys2811=)
 ClinVar
5g.13769026T>GCA359201764DNAH5c.9831A>C (p.Lys3277Asn)
c.9786A>C (p.Lys3262Asn)
n.543A>C
c.9939A>C (p.Lys3313Asn)
c.8844A>C (p.Lys2948Asn)
c.5028A>C (p.Lys1676Asn)
c.4581A>C (p.Lys1527Asn)
c.3918A>C (p.Lys1306Asn)
c.8433A>C (p.Lys2811Asn)
5g.13769027T>ACA359201767DNAH5c.9830A>T (p.Lys3277Ile)
c.9785A>T (p.Lys3262Ile)
n.542A>T
c.9938A>T (p.Lys3313Ile)
c.8843A>T (p.Lys2948Ile)
c.5027A>T (p.Lys1676Ile)
c.4580A>T (p.Lys1527Ile)
c.3917A>T (p.Lys1306Ile)
c.8432A>T (p.Lys2811Ile)
5g.13769027T>CCA359201770DNAH5c.9830A>G (p.Lys3277Arg)
c.9785A>G (p.Lys3262Arg)
n.542A>G
c.9938A>G (p.Lys3313Arg)
c.8843A>G (p.Lys2948Arg)
c.5027A>G (p.Lys1676Arg)
c.4580A>G (p.Lys1527Arg)
c.3917A>G (p.Lys1306Arg)
c.8432A>G (p.Lys2811Arg)
5g.13769027T>GCA359201766DNAH5c.9830A>C (p.Lys3277Thr)
c.9785A>C (p.Lys3262Thr)
n.542A>C
c.9938A>C (p.Lys3313Thr)
c.8843A>C (p.Lys2948Thr)
c.5027A>C (p.Lys1676Thr)
c.4580A>C (p.Lys1527Thr)
c.3917A>C (p.Lys1306Thr)
c.8432A>C (p.Lys2811Thr)
5g.13769028T>ACA359201772DNAH5c.9829A>T (p.Lys3277Ter)
c.9784A>T (p.Lys3262Ter)
n.541A>T
c.9937A>T (p.Lys3313Ter)
c.8842A>T (p.Lys2948Ter)
c.5026A>T (p.Lys1676Ter)
c.4579A>T (p.Lys1527Ter)
c.3916A>T (p.Lys1306Ter)
c.8431A>T (p.Lys2811Ter)
5g.13769028T>CCA359201774DNAH5c.9829A>G (p.Lys3277Glu)
c.9784A>G (p.Lys3262Glu)
n.541A>G
c.9937A>G (p.Lys3313Glu)
c.8842A>G (p.Lys2948Glu)
c.5026A>G (p.Lys1676Glu)
c.4579A>G (p.Lys1527Glu)
c.3916A>G (p.Lys1306Glu)
c.8431A>G (p.Lys2811Glu)
5g.13769028T>GCA359201775DNAH5c.9829A>C (p.Lys3277Gln)
c.9784A>C (p.Lys3262Gln)
n.541A>C
c.9937A>C (p.Lys3313Gln)
c.8842A>C (p.Lys2948Gln)
c.5026A>C (p.Lys1676Gln)
c.4579A>C (p.Lys1527Gln)
c.3916A>C (p.Lys1306Gln)
c.8431A>C (p.Lys2811Gln)
 gnomAD v4
5g.13769029G>ACA443253789DNAH5c.9828C>T (p.Asp3276=)
c.9783C>T (p.Asp3261=)
n.540C>T
c.9936C>T (p.Asp3312=)
c.8841C>T (p.Asp2947=)
c.5025C>T (p.Asp1675=)
c.4578C>T (p.Asp1526=)
c.3915C>T (p.Asp1305=)
c.8430C>T (p.Asp2810=)
5g.13769029G>CCA359201780DNAH5c.9828C>G (p.Asp3276Glu)
c.9783C>G (p.Asp3261Glu)
n.540C>G
c.9936C>G (p.Asp3312Glu)
c.8841C>G (p.Asp2947Glu)
c.5025C>G (p.Asp1675Glu)
c.4578C>G (p.Asp1526Glu)
c.3915C>G (p.Asp1305Glu)
c.8430C>G (p.Asp2810Glu)
5g.13769029G>TCA359201781DNAH5c.9828C>A (p.Asp3276Glu)
c.9783C>A (p.Asp3261Glu)
n.540C>A
c.9936C>A (p.Asp3312Glu)
c.8841C>A (p.Asp2947Glu)
c.5025C>A (p.Asp1675Glu)
c.4578C>A (p.Asp1526Glu)
c.3915C>A (p.Asp1305Glu)
c.8430C>A (p.Asp2810Glu)
5g.13769030T>ACA359201785DNAH5c.9827A>T (p.Asp3276Val)
c.9782A>T (p.Asp3261Val)
n.539A>T
c.9935A>T (p.Asp3312Val)
c.8840A>T (p.Asp2947Val)
c.5024A>T (p.Asp1675Val)
c.4577A>T (p.Asp1526Val)
c.3914A>T (p.Asp1305Val)
c.8429A>T (p.Asp2810Val)
5g.13769030T>CCA359201787DNAH5c.9827A>G (p.Asp3276Gly)
c.9782A>G (p.Asp3261Gly)
n.539A>G
c.9935A>G (p.Asp3312Gly)
c.8840A>G (p.Asp2947Gly)
c.5024A>G (p.Asp1675Gly)
c.4577A>G (p.Asp1526Gly)
c.3914A>G (p.Asp1305Gly)
c.8429A>G (p.Asp2810Gly)
5g.13769030T>GCA359201791DNAH5c.9827A>C (p.Asp3276Ala)
c.9782A>C (p.Asp3261Ala)
n.539A>C
c.9935A>C (p.Asp3312Ala)
c.8840A>C (p.Asp2947Ala)
c.5024A>C (p.Asp1675Ala)
c.4577A>C (p.Asp1526Ala)
c.3914A>C (p.Asp1305Ala)
c.8429A>C (p.Asp2810Ala)
5g.13769031C>ACA359201794DNAH5c.9826G>T (p.Asp3276Tyr)
c.9781G>T (p.Asp3261Tyr)
n.538G>T
c.9934G>T (p.Asp3312Tyr)
c.8839G>T (p.Asp2947Tyr)
c.5023G>T (p.Asp1675Tyr)
c.4576G>T (p.Asp1526Tyr)
c.3913G>T (p.Asp1305Tyr)
c.8428G>T (p.Asp2810Tyr)
5g.13769031C>GCA359201797DNAH5c.9826G>C (p.Asp3276His)
c.9781G>C (p.Asp3261His)
n.538G>C
c.9934G>C (p.Asp3312His)
c.8839G>C (p.Asp2947His)
c.5023G>C (p.Asp1675His)
c.4576G>C (p.Asp1526His)
c.3913G>C (p.Asp1305His)
c.8428G>C (p.Asp2810His)
5g.13769031C>TCA359201795DNAH5c.9826G>A (p.Asp3276Asn)
c.9781G>A (p.Asp3261Asn)
n.538G>A
c.9934G>A (p.Asp3312Asn)
c.8839G>A (p.Asp2947Asn)
c.5023G>A (p.Asp1675Asn)
c.4576G>A (p.Asp1526Asn)
c.3913G>A (p.Asp1305Asn)
c.8428G>A (p.Asp2810Asn)
5g.13769032T>ACA359201799DNAH5c.9825A>T (p.Lys3275Asn)
c.9780A>T (p.Lys3260Asn)
n.537A>T
c.9933A>T (p.Lys3311Asn)
c.8838A>T (p.Lys2946Asn)
c.5022A>T (p.Lys1674Asn)
c.4575A>T (p.Lys1525Asn)
c.3912A>T (p.Lys1304Asn)
c.8427A>T (p.Lys2809Asn)
5g.13769032T>CCA443253795DNAH5c.9825A>G (p.Lys3275=)
c.9780A>G (p.Lys3260=)
n.537A>G
c.9933A>G (p.Lys3311=)
c.8838A>G (p.Lys2946=)
c.5022A>G (p.Lys1674=)
c.4575A>G (p.Lys1525=)
c.3912A>G (p.Lys1304=)
c.8427A>G (p.Lys2809=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13769032T>GCA359201803DNAH5c.9825A>C (p.Lys3275Asn)
c.9780A>C (p.Lys3260Asn)
n.537A>C
c.9933A>C (p.Lys3311Asn)
c.8838A>C (p.Lys2946Asn)
c.5022A>C (p.Lys1674Asn)
c.4575A>C (p.Lys1525Asn)
c.3912A>C (p.Lys1304Asn)
c.8427A>C (p.Lys2809Asn)
5g.13769032T=CA1528430356DNAH5c.9825A= (p.Lys3275=)
c.9780A= (p.Lys3260=)
n.537A=
c.9933A= (p.Lys3311=)
c.8838A= (p.Lys2946=)
c.5022A= (p.Lys1674=)
c.4575A= (p.Lys1525=)
c.3912A= (p.Lys1304=)
c.8427A= (p.Lys2809=)
5g.13769033T>ACA359201807DNAH5c.9824A>T (p.Lys3275Ile)
c.9779A>T (p.Lys3260Ile)
n.536A>T
c.9932A>T (p.Lys3311Ile)
c.8837A>T (p.Lys2946Ile)
c.5021A>T (p.Lys1674Ile)
c.4574A>T (p.Lys1525Ile)
c.3911A>T (p.Lys1304Ile)
c.8426A>T (p.Lys2809Ile)
5g.13769033T>CCA359201809DNAH5c.9824A>G (p.Lys3275Arg)
c.9779A>G (p.Lys3260Arg)
n.536A>G
c.9932A>G (p.Lys3311Arg)
c.8837A>G (p.Lys2946Arg)
c.5021A>G (p.Lys1674Arg)
c.4574A>G (p.Lys1525Arg)
c.3911A>G (p.Lys1304Arg)
c.8426A>G (p.Lys2809Arg)
5g.13769033T>GCA359201814DNAH5c.9824A>C (p.Lys3275Thr)
c.9779A>C (p.Lys3260Thr)
n.536A>C
c.9932A>C (p.Lys3311Thr)
c.8837A>C (p.Lys2946Thr)
c.5021A>C (p.Lys1674Thr)
c.4574A>C (p.Lys1525Thr)
c.3911A>C (p.Lys1304Thr)
c.8426A>C (p.Lys2809Thr)
 dbSNP gnomAD v2
5g.13769033T=CA1528430357DNAH5c.9824A= (p.Lys3275=)
c.9779A= (p.Lys3260=)
n.536A=
c.9932A= (p.Lys3311=)
c.8837A= (p.Lys2946=)
c.5021A= (p.Lys1674=)
c.4574A= (p.Lys1525=)
c.3911A= (p.Lys1304=)
c.8426A= (p.Lys2809=)
5g.13769034T>ACA359201820DNAH5c.9823A>T (p.Lys3275Ter)
c.9778A>T (p.Lys3260Ter)
n.535A>T
c.9931A>T (p.Lys3311Ter)
c.8836A>T (p.Lys2946Ter)
c.5020A>T (p.Lys1674Ter)
c.4573A>T (p.Lys1525Ter)
c.3910A>T (p.Lys1304Ter)
c.8425A>T (p.Lys2809Ter)
5g.13769034T>CCA359201830DNAH5c.9823A>G (p.Lys3275Glu)
c.9778A>G (p.Lys3260Glu)
n.535A>G
c.9931A>G (p.Lys3311Glu)
c.8836A>G (p.Lys2946Glu)
c.5020A>G (p.Lys1674Glu)
c.4573A>G (p.Lys1525Glu)
c.3910A>G (p.Lys1304Glu)
c.8425A>G (p.Lys2809Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13769034T>GCA359201828DNAH5c.9823A>C (p.Lys3275Gln)
c.9778A>C (p.Lys3260Gln)
n.535A>C
c.9931A>C (p.Lys3311Gln)
c.8836A>C (p.Lys2946Gln)
c.5020A>C (p.Lys1674Gln)
c.4573A>C (p.Lys1525Gln)
c.3910A>C (p.Lys1304Gln)
c.8425A>C (p.Lys2809Gln)
 dbSNP gnomAD v2 gnomAD v4
5g.13769034T=CA1528430358DNAH5c.9823A= (p.Lys3275=)
c.9778A= (p.Lys3260=)
n.535A=
c.9931A= (p.Lys3311=)
c.8836A= (p.Lys2946=)
c.5020A= (p.Lys1674=)
c.4573A= (p.Lys1525=)
c.3910A= (p.Lys1304=)
c.8425A= (p.Lys2809=)
5g.13769035A>CCA443253803DNAH5c.9822T>G (p.Ser3274=)
c.9777T>G (p.Ser3259=)
n.534T>G
c.9930T>G (p.Ser3310=)
c.8835T>G (p.Ser2945=)
c.5019T>G (p.Ser1673=)
c.4572T>G (p.Ser1524=)
c.3909T>G (p.Ser1303=)
c.8424T>G (p.Ser2808=)
 COSMIC
5g.13769035A>GCA443253805DNAH5c.9822T>C (p.Ser3274=)
c.9777T>C (p.Ser3259=)
n.534T>C
c.9930T>C (p.Ser3310=)
c.8835T>C (p.Ser2945=)
c.5019T>C (p.Ser1673=)
c.4572T>C (p.Ser1524=)
c.3909T>C (p.Ser1303=)
c.8424T>C (p.Ser2808=)
5g.13769035A>TCA443253808DNAH5c.9822T>A (p.Ser3274=)
c.9777T>A (p.Ser3259=)
n.534T>A
c.9930T>A (p.Ser3310=)
c.8835T>A (p.Ser2945=)
c.5019T>A (p.Ser1673=)
c.4572T>A (p.Ser1524=)
c.3909T>A (p.Ser1303=)
c.8424T>A (p.Ser2808=)
5g.13769036G>ACA359201833DNAH5c.9821C>T (p.Ser3274Phe)
c.9776C>T (p.Ser3259Phe)
n.533C>T
c.9929C>T (p.Ser3310Phe)
c.8834C>T (p.Ser2945Phe)
c.5018C>T (p.Ser1673Phe)
c.4571C>T (p.Ser1524Phe)
c.3908C>T (p.Ser1303Phe)
c.8423C>T (p.Ser2808Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.13769036G>CCA359201834DNAH5c.9821C>G (p.Ser3274Cys)
c.9776C>G (p.Ser3259Cys)
n.533C>G
c.9929C>G (p.Ser3310Cys)
c.8834C>G (p.Ser2945Cys)
c.5018C>G (p.Ser1673Cys)
c.4571C>G (p.Ser1524Cys)
c.3908C>G (p.Ser1303Cys)
c.8423C>G (p.Ser2808Cys)
 gnomAD v4 COSMIC
5g.13769036G=CA1528430359DNAH5c.9821C= (p.Ser3274=)
c.9776C= (p.Ser3259=)
n.533C=
c.9929C= (p.Ser3310=)
c.8834C= (p.Ser2945=)
c.5018C= (p.Ser1673=)
c.4571C= (p.Ser1524=)
c.3908C= (p.Ser1303=)
c.8423C= (p.Ser2808=)
5g.13769036G>TCA359201835DNAH5c.9821C>A (p.Ser3274Tyr)
c.9776C>A (p.Ser3259Tyr)
n.533C>A
c.9929C>A (p.Ser3310Tyr)
c.8834C>A (p.Ser2945Tyr)
c.5018C>A (p.Ser1673Tyr)
c.4571C>A (p.Ser1524Tyr)
c.3908C>A (p.Ser1303Tyr)
c.8423C>A (p.Ser2808Tyr)
5g.13769037A>CCA359201836DNAH5c.9820T>G (p.Ser3274Ala)
c.9775T>G (p.Ser3259Ala)
n.532T>G
c.9928T>G (p.Ser3310Ala)
c.8833T>G (p.Ser2945Ala)
c.5017T>G (p.Ser1673Ala)
c.4570T>G (p.Ser1524Ala)
c.3907T>G (p.Ser1303Ala)
c.8422T>G (p.Ser2808Ala)
5g.13769037A>GCA359201837DNAH5c.9820T>C (p.Ser3274Pro)
c.9775T>C (p.Ser3259Pro)
n.532T>C
c.9928T>C (p.Ser3310Pro)
c.8833T>C (p.Ser2945Pro)
c.5017T>C (p.Ser1673Pro)
c.4570T>C (p.Ser1524Pro)
c.3907T>C (p.Ser1303Pro)
c.8422T>C (p.Ser2808Pro)
5g.13769037A>TCA359201840DNAH5c.9820T>A (p.Ser3274Thr)
c.9775T>A (p.Ser3259Thr)
n.532T>A
c.9928T>A (p.Ser3310Thr)
c.8833T>A (p.Ser2945Thr)
c.5017T>A (p.Ser1673Thr)
c.4570T>A (p.Ser1524Thr)
c.3907T>A (p.Ser1303Thr)
c.8422T>A (p.Ser2808Thr)
5g.13769038G>ACA113930787DNAH5c.9819C>T (p.Ile3273=)
c.9774C>T (p.Ile3258=)
n.531C>T
c.9927C>T (p.Ile3309=)
c.8832C>T (p.Ile2944=)
c.5016C>T (p.Ile1672=)
c.4569C>T (p.Ile1523=)
c.3906C>T (p.Ile1302=)
c.8421C>T (p.Ile2807=)
 dbSNP
5g.13769038G>CCA359201848DNAH5c.9819C>G (p.Ile3273Met)
c.9774C>G (p.Ile3258Met)
n.531C>G
c.9927C>G (p.Ile3309Met)
c.8832C>G (p.Ile2944Met)
c.5016C>G (p.Ile1672Met)
c.4569C>G (p.Ile1523Met)
c.3906C>G (p.Ile1302Met)
c.8421C>G (p.Ile2807Met)
5g.13769038G=CA1528430360DNAH5c.9819C= (p.Ile3273=)
c.9774C= (p.Ile3258=)
n.531C=
c.9927C= (p.Ile3309=)
c.8832C= (p.Ile2944=)
c.5016C= (p.Ile1672=)
c.4569C= (p.Ile1523=)
c.3906C= (p.Ile1302=)
c.8421C= (p.Ile2807=)
5g.13769038G>TCA443253814DNAH5c.9819C>A (p.Ile3273=)
c.9774C>A (p.Ile3258=)
n.531C>A
c.9927C>A (p.Ile3309=)
c.8832C>A (p.Ile2944=)
c.5016C>A (p.Ile1672=)
c.4569C>A (p.Ile1523=)
c.3906C>A (p.Ile1302=)
c.8421C>A (p.Ile2807=)
5g.13769039A>CCA359201851DNAH5c.9818T>G (p.Ile3273Ser)
c.9773T>G (p.Ile3258Ser)
n.530T>G
c.9926T>G (p.Ile3309Ser)
c.8831T>G (p.Ile2944Ser)
c.5015T>G (p.Ile1672Ser)
c.4568T>G (p.Ile1523Ser)
c.3905T>G (p.Ile1302Ser)
c.8420T>G (p.Ile2807Ser)
5g.13769039A>GCA359201852DNAH5c.9818T>C (p.Ile3273Thr)
c.9773T>C (p.Ile3258Thr)
n.530T>C
c.9926T>C (p.Ile3309Thr)
c.8831T>C (p.Ile2944Thr)
c.5015T>C (p.Ile1672Thr)
c.4568T>C (p.Ile1523Thr)
c.3905T>C (p.Ile1302Thr)
c.8420T>C (p.Ile2807Thr)
5g.13769039A>TCA359201853DNAH5c.9818T>A (p.Ile3273Asn)
c.9773T>A (p.Ile3258Asn)
n.530T>A
c.9926T>A (p.Ile3309Asn)
c.8831T>A (p.Ile2944Asn)
c.5015T>A (p.Ile1672Asn)
c.4568T>A (p.Ile1523Asn)
c.3905T>A (p.Ile1302Asn)
c.8420T>A (p.Ile2807Asn)
5g.13769040T>ACA359201854DNAH5c.9817A>T (p.Ile3273Phe)
c.9772A>T (p.Ile3258Phe)
n.529A>T
c.9925A>T (p.Ile3309Phe)
c.8830A>T (p.Ile2944Phe)
c.5014A>T (p.Ile1672Phe)
c.4567A>T (p.Ile1523Phe)
c.3904A>T (p.Ile1302Phe)
c.8419A>T (p.Ile2807Phe)
5g.13769040T>CCA359201855DNAH5c.9817A>G (p.Ile3273Val)
c.9772A>G (p.Ile3258Val)
n.529A>G
c.9925A>G (p.Ile3309Val)
c.8830A>G (p.Ile2944Val)
c.5014A>G (p.Ile1672Val)
c.4567A>G (p.Ile1523Val)
c.3904A>G (p.Ile1302Val)
c.8419A>G (p.Ile2807Val)
 dbSNP gnomAD v2 gnomAD v4
5g.13769040T>GCA359201856DNAH5c.9817A>C (p.Ile3273Leu)
c.9772A>C (p.Ile3258Leu)
n.529A>C
c.9925A>C (p.Ile3309Leu)
c.8830A>C (p.Ile2944Leu)
c.5014A>C (p.Ile1672Leu)
c.4567A>C (p.Ile1523Leu)
c.3904A>C (p.Ile1302Leu)
c.8419A>C (p.Ile2807Leu)
5g.13769040T=CA1528430361DNAH5c.9817A= (p.Ile3273=)
c.9772A= (p.Ile3258=)
n.529A=
c.9925A= (p.Ile3309=)
c.8830A= (p.Ile2944=)
c.5014A= (p.Ile1672=)
c.4567A= (p.Ile1523=)
c.3904A= (p.Ile1302=)
c.8419A= (p.Ile2807=)
5g.13769041G>ACA3202421DNAH5c.9816C>T (p.Ser3272=)
c.9771C>T (p.Ser3257=)
n.528C>T
c.9924C>T (p.Ser3308=)
c.8829C>T (p.Ser2943=)
c.5013C>T (p.Ser1671=)
c.4566C>T (p.Ser1522=)
c.3903C>T (p.Ser1301=)
c.8418C>T (p.Ser2806=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13769041G>CCA359201863DNAH5c.9816C>G (p.Ser3272Arg)
c.9771C>G (p.Ser3257Arg)
n.528C>G
c.9924C>G (p.Ser3308Arg)
c.8829C>G (p.Ser2943Arg)
c.5013C>G (p.Ser1671Arg)
c.4566C>G (p.Ser1522Arg)
c.3903C>G (p.Ser1301Arg)
c.8418C>G (p.Ser2806Arg)
5g.13769041G=CA1528430362DNAH5c.9816C= (p.Ser3272=)
c.9771C= (p.Ser3257=)
n.528C=
c.9924C= (p.Ser3308=)
c.8829C= (p.Ser2943=)
c.5013C= (p.Ser1671=)
c.4566C= (p.Ser1522=)
c.3903C= (p.Ser1301=)
c.8418C= (p.Ser2806=)
5g.13769041G>TCA359201862DNAH5c.9816C>A (p.Ser3272Arg)
c.9771C>A (p.Ser3257Arg)
n.528C>A
c.9924C>A (p.Ser3308Arg)
c.8829C>A (p.Ser2943Arg)
c.5013C>A (p.Ser1671Arg)
c.4566C>A (p.Ser1522Arg)
c.3903C>A (p.Ser1301Arg)
c.8418C>A (p.Ser2806Arg)
5g.13769042C>ACA359201867DNAH5c.9815G>T (p.Ser3272Ile)
c.9770G>T (p.Ser3257Ile)
n.527G>T
c.9923G>T (p.Ser3308Ile)
c.8828G>T (p.Ser2943Ile)
c.5012G>T (p.Ser1671Ile)
c.4565G>T (p.Ser1522Ile)
c.3902G>T (p.Ser1301Ile)
c.8417G>T (p.Ser2806Ile)
5g.13769042C=CA1528430363DNAH5c.9815G= (p.Ser3272=)
c.9770G= (p.Ser3257=)
n.527G=
c.9923G= (p.Ser3308=)
c.8828G= (p.Ser2943=)
c.5012G= (p.Ser1671=)
c.4565G= (p.Ser1522=)
c.3902G= (p.Ser1301=)
c.8417G= (p.Ser2806=)
5g.13769042C>GCA359201869DNAH5c.9815G>C (p.Ser3272Thr)
c.9770G>C (p.Ser3257Thr)
n.527G>C
c.9923G>C (p.Ser3308Thr)
c.8828G>C (p.Ser2943Thr)
c.5012G>C (p.Ser1671Thr)
c.4565G>C (p.Ser1522Thr)
c.3902G>C (p.Ser1301Thr)
c.8417G>C (p.Ser2806Thr)
5g.13769042C>TCA3202422DNAH5c.9815G>A (p.Ser3272Asn)
c.9770G>A (p.Ser3257Asn)
n.527G>A
c.9923G>A (p.Ser3308Asn)
c.8828G>A (p.Ser2943Asn)
c.5012G>A (p.Ser1671Asn)
c.4565G>A (p.Ser1522Asn)
c.3902G>A (p.Ser1301Asn)
c.8417G>A (p.Ser2806Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13769043T>ACA359201875DNAH5c.9814A>T (p.Ser3272Cys)
c.9769A>T (p.Ser3257Cys)
n.526A>T
c.9922A>T (p.Ser3308Cys)
c.8827A>T (p.Ser2943Cys)
c.5011A>T (p.Ser1671Cys)
c.4564A>T (p.Ser1522Cys)
c.3901A>T (p.Ser1301Cys)
c.8416A>T (p.Ser2806Cys)
 gnomAD v4
5g.13769043T>CCA359201876DNAH5c.9814A>G (p.Ser3272Gly)
c.9769A>G (p.Ser3257Gly)
n.526A>G
c.9922A>G (p.Ser3308Gly)
c.8827A>G (p.Ser2943Gly)
c.5011A>G (p.Ser1671Gly)
c.4564A>G (p.Ser1522Gly)
c.3901A>G (p.Ser1301Gly)
c.8416A>G (p.Ser2806Gly)
 gnomAD v4
5g.13769043T>GCA359201877DNAH5c.9814A>C (p.Ser3272Arg)
c.9769A>C (p.Ser3257Arg)
n.526A>C
c.9922A>C (p.Ser3308Arg)
c.8827A>C (p.Ser2943Arg)
c.5011A>C (p.Ser1671Arg)
c.4564A>C (p.Ser1522Arg)
c.3901A>C (p.Ser1301Arg)
c.8416A>C (p.Ser2806Arg)
5g.13769044G>ACA443253824DNAH5c.9813C>T (p.Asp3271=)
c.9768C>T (p.Asp3256=)
n.525C>T
c.9921C>T (p.Asp3307=)
c.8826C>T (p.Asp2942=)
c.5010C>T (p.Asp1670=)
c.4563C>T (p.Asp1521=)
c.3900C>T (p.Asp1300=)
c.8415C>T (p.Asp2805=)
 dbSNP gnomAD v4
5g.13769044G>CCA359201878DNAH5c.9813C>G (p.Asp3271Glu)
c.9768C>G (p.Asp3256Glu)
n.525C>G
c.9921C>G (p.Asp3307Glu)
c.8826C>G (p.Asp2942Glu)
c.5010C>G (p.Asp1670Glu)
c.4563C>G (p.Asp1521Glu)
c.3900C>G (p.Asp1300Glu)
c.8415C>G (p.Asp2805Glu)
5g.13769044G=CA1528430364DNAH5c.9813C= (p.Asp3271=)
c.9768C= (p.Asp3256=)
n.525C=
c.9921C= (p.Asp3307=)
c.8826C= (p.Asp2942=)
c.5010C= (p.Asp1670=)
c.4563C= (p.Asp1521=)
c.3900C= (p.Asp1300=)
c.8415C= (p.Asp2805=)
5g.13769044G>TCA359201880DNAH5c.9813C>A (p.Asp3271Glu)
c.9768C>A (p.Asp3256Glu)
n.525C>A
c.9921C>A (p.Asp3307Glu)
c.8826C>A (p.Asp2942Glu)
c.5010C>A (p.Asp1670Glu)
c.4563C>A (p.Asp1521Glu)
c.3900C>A (p.Asp1300Glu)
c.8415C>A (p.Asp2805Glu)
 gnomAD v4
5g.13769045T>ACA359201888DNAH5c.9812A>T (p.Asp3271Val)
c.9767A>T (p.Asp3256Val)
n.524A>T
c.9920A>T (p.Asp3307Val)
c.8825A>T (p.Asp2942Val)
c.5009A>T (p.Asp1670Val)
c.4562A>T (p.Asp1521Val)
c.3899A>T (p.Asp1300Val)
c.8414A>T (p.Asp2805Val)
 gnomAD v4
5g.13769045T>CCA359201890DNAH5c.9812A>G (p.Asp3271Gly)
c.9767A>G (p.Asp3256Gly)
n.524A>G
c.9920A>G (p.Asp3307Gly)
c.8825A>G (p.Asp2942Gly)
c.5009A>G (p.Asp1670Gly)
c.4562A>G (p.Asp1521Gly)
c.3899A>G (p.Asp1300Gly)
c.8414A>G (p.Asp2805Gly)
5g.13769045T>GCA359201899DNAH5c.9812A>C (p.Asp3271Ala)
c.9767A>C (p.Asp3256Ala)
n.524A>C
c.9920A>C (p.Asp3307Ala)
c.8825A>C (p.Asp2942Ala)
c.5009A>C (p.Asp1670Ala)
c.4562A>C (p.Asp1521Ala)
c.3899A>C (p.Asp1300Ala)
c.8414A>C (p.Asp2805Ala)
5g.13769046C>ACA359201905DNAH5c.9811G>T (p.Asp3271Tyr)
c.9766G>T (p.Asp3256Tyr)
n.523G>T
c.9919G>T (p.Asp3307Tyr)
c.8824G>T (p.Asp2942Tyr)
c.5008G>T (p.Asp1670Tyr)
c.4561G>T (p.Asp1521Tyr)
c.3898G>T (p.Asp1300Tyr)
c.8413G>T (p.Asp2805Tyr)
5g.13769046C>GCA359201908DNAH5c.9811G>C (p.Asp3271His)
c.9766G>C (p.Asp3256His)
n.523G>C
c.9919G>C (p.Asp3307His)
c.8824G>C (p.Asp2942His)
c.5008G>C (p.Asp1670His)
c.4561G>C (p.Asp1521His)
c.3898G>C (p.Asp1300His)
c.8413G>C (p.Asp2805His)
5g.13769046C>TCA359201912DNAH5c.9811G>A (p.Asp3271Asn)
c.9766G>A (p.Asp3256Asn)
n.523G>A
c.9919G>A (p.Asp3307Asn)
c.8824G>A (p.Asp2942Asn)
c.5008G>A (p.Asp1670Asn)
c.4561G>A (p.Asp1521Asn)
c.3898G>A (p.Asp1300Asn)
c.8413G>A (p.Asp2805Asn)
5g.13769047C>ACA3202423DNAH5c.9810G>T (p.Val3270=)
c.9765G>T (p.Val3255=)
n.522G>T
c.9918G>T (p.Val3306=)
c.8823G>T (p.Val2941=)
c.5007G>T (p.Val1669=)
c.4560G>T (p.Val1520=)
c.3897G>T (p.Val1299=)
c.8412G>T (p.Val2804=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13769047C=CA1528430365DNAH5c.9810G= (p.Val3270=)
c.9765G= (p.Val3255=)
n.522G=
c.9918G= (p.Val3306=)
c.8823G= (p.Val2941=)
c.5007G= (p.Val1669=)
c.4560G= (p.Val1520=)
c.3897G= (p.Val1299=)
c.8412G= (p.Val2804=)
5g.13769047C>GCA443253828DNAH5c.9810G>C (p.Val3270=)
c.9765G>C (p.Val3255=)
n.522G>C
c.9918G>C (p.Val3306=)
c.8823G>C (p.Val2941=)
c.5007G>C (p.Val1669=)
c.4560G>C (p.Val1520=)
c.3897G>C (p.Val1299=)
c.8412G>C (p.Val2804=)
5g.13769047C>TCA443253830DNAH5c.9810G>A (p.Val3270=)
c.9765G>A (p.Val3255=)
n.522G>A
c.9918G>A (p.Val3306=)
c.8823G>A (p.Val2941=)
c.5007G>A (p.Val1669=)
c.4560G>A (p.Val1520=)
c.3897G>A (p.Val1299=)
c.8412G>A (p.Val2804=)
 ClinVar dbSNP
5g.13769048A=CA1528430366DNAH5c.9809T= (p.Val3270=)
c.9764T= (p.Val3255=)
n.521T=
c.9917T= (p.Val3306=)
c.8822T= (p.Val2941=)
c.5006T= (p.Val1669=)
c.4559T= (p.Val1520=)
c.3896T= (p.Val1299=)
c.8411T= (p.Val2804=)
5g.13769048A>CCA359201915DNAH5c.9809T>G (p.Val3270Gly)
c.9764T>G (p.Val3255Gly)
n.521T>G
c.9917T>G (p.Val3306Gly)
c.8822T>G (p.Val2941Gly)
c.5006T>G (p.Val1669Gly)
c.4559T>G (p.Val1520Gly)
c.3896T>G (p.Val1299Gly)
c.8411T>G (p.Val2804Gly)
5g.13769048A>GCA113930819DNAH5c.9809T>C (p.Val3270Ala)
c.9764T>C (p.Val3255Ala)
n.521T>C
c.9917T>C (p.Val3306Ala)
c.8822T>C (p.Val2941Ala)
c.5006T>C (p.Val1669Ala)
c.4559T>C (p.Val1520Ala)
c.3896T>C (p.Val1299Ala)
c.8411T>C (p.Val2804Ala)
 dbSNP gnomAD v4
5g.13769048A>TCA359201920DNAH5c.9809T>A (p.Val3270Glu)
c.9764T>A (p.Val3255Glu)
n.521T>A
c.9917T>A (p.Val3306Glu)
c.8822T>A (p.Val2941Glu)
c.5006T>A (p.Val1669Glu)
c.4559T>A (p.Val1520Glu)
c.3896T>A (p.Val1299Glu)
c.8411T>A (p.Val2804Glu)
5g.13769049C>ACA359201922DNAH5c.9808G>T (p.Val3270Leu)
c.9763G>T (p.Val3255Leu)
n.520G>T
c.9916G>T (p.Val3306Leu)
c.8821G>T (p.Val2941Leu)
c.5005G>T (p.Val1669Leu)
c.4558G>T (p.Val1520Leu)
c.3895G>T (p.Val1299Leu)
c.8410G>T (p.Val2804Leu)
5g.13769049C>GCA359201924DNAH5c.9808G>C (p.Val3270Leu)
c.9763G>C (p.Val3255Leu)
n.520G>C
c.9916G>C (p.Val3306Leu)
c.8821G>C (p.Val2941Leu)
c.5005G>C (p.Val1669Leu)
c.4558G>C (p.Val1520Leu)
c.3895G>C (p.Val1299Leu)
c.8410G>C (p.Val2804Leu)
5g.13769049C>TCA359201925DNAH5c.9808G>A (p.Val3270Met)
c.9763G>A (p.Val3255Met)
n.520G>A
c.9916G>A (p.Val3306Met)
c.8821G>A (p.Val2941Met)
c.5005G>A (p.Val1669Met)
c.4558G>A (p.Val1520Met)
c.3895G>A (p.Val1299Met)
c.8410G>A (p.Val2804Met)
 gnomAD v4
5g.13769050A>CCA359201927DNAH5c.9807T>G (p.Ile3269Met)
c.9762T>G (p.Ile3254Met)
n.519T>G
c.9915T>G (p.Ile3305Met)
c.8820T>G (p.Ile2940Met)
c.5004T>G (p.Ile1668Met)
c.4557T>G (p.Ile1519Met)
c.3894T>G (p.Ile1298Met)
c.8409T>G (p.Ile2803Met)
5g.13769050A>GCA443253834DNAH5c.9807T>C (p.Ile3269=)
c.9762T>C (p.Ile3254=)
n.519T>C
c.9915T>C (p.Ile3305=)
c.8820T>C (p.Ile2940=)
c.5004T>C (p.Ile1668=)
c.4557T>C (p.Ile1519=)
c.3894T>C (p.Ile1298=)
c.8409T>C (p.Ile2803=)
5g.13769050A>TCA443253833DNAH5c.9807T>A (p.Ile3269=)
c.9762T>A (p.Ile3254=)
n.519T>A
c.9915T>A (p.Ile3305=)
c.8820T>A (p.Ile2940=)
c.5004T>A (p.Ile1668=)
c.4557T>A (p.Ile1519=)
c.3894T>A (p.Ile1298=)
c.8409T>A (p.Ile2803=)

Number of alleles fetched