Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.21748559A=CA1693661868DNAH11c.8511-21A= (n.8511-21A=)
c.8532-21A= (n.8532-21A=)
7g.21748559A>GCA573292818DNAH11c.8511-21A>G (n.8511-21A>G)
c.8532-21A>G (n.8532-21A>G)
dbSNP gnomAD v2 gnomAD v4
7g.21748560T>CCA573292819DNAH11c.8511-20T>C (n.8511-20T>C)
c.8532-20T>C (n.8532-20T>C)
dbSNP gnomAD v2 gnomAD v4
7g.21748560T=CA1693661871DNAH11c.8511-20T= (n.8511-20T=)
c.8532-20T= (n.8532-20T=)
7g.21748561G>CCA573292820DNAH11c.8511-19G>C (n.8511-19G>C)
c.8532-19G>C (n.8532-19G>C)
dbSNP gnomAD v2 gnomAD v4
7g.21748561G=CA1693661873DNAH11c.8511-19G= (n.8511-19G=)
c.8532-19G= (n.8532-19G=)
7g.21748562G=CA1693661876DNAH11c.8511-18G= (n.8511-18G=)
c.8532-18G= (n.8532-18G=)
7g.21748562G>TCA836670078DNAH11c.8511-18G>T (n.8511-18G>T)
c.8532-18G>T (n.8532-18G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.21748563G>ACA2681987040DNAH11c.8511-17G>A (n.8511-17G>A)
c.8532-17G>A (n.8532-17G>A)
gnomAD v4
7g.21748563G>TCA2681987041DNAH11c.8511-17G>T (n.8511-17G>T)
c.8532-17G>T (n.8532-17G>T)
ClinVar gnomAD v4
7g.21748565_21748566delCA2774678366DNAH11c.8511-15_8511-14del (n.8511-15_8511-14del)
c.8532-15_8532-14del (n.8532-15_8532-14del)
7g.21748564C>ACA2681987042DNAH11c.8511-16C>A (n.8511-16C>A)
c.8532-16C>A (n.8532-16C>A)
gnomAD v4
7g.21748564C=CA1693661880DNAH11c.8511-16C= (n.8511-16C=)
c.8532-16C= (n.8532-16C=)
7g.21748564C>TCA4181629DNAH11c.8511-16C>T (n.8511-16C>T)
c.8532-16C>T (n.8532-16C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748565G>ACA4181630DNAH11c.8511-15G>A (n.8511-15G>A)
c.8532-15G>A (n.8532-15G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.21748565G>CCA2578843333DNAH11c.8511-15G>C (n.8511-15G>C)
c.8532-15G>C (n.8532-15G>C)
7g.21748565G=CA1693661891DNAH11c.8511-15G= (n.8511-15G=)
c.8532-15G= (n.8532-15G=)
7g.21748565G>TCA4181631DNAH11c.8511-15G>T (n.8511-15G>T)
c.8532-15G>T (n.8532-15G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748566delCA2739266275DNAH11c.8511-14del (n.8511-14del)
c.8532-14del (n.8532-14del)
ClinVar
7g.21748566C>ACA2681987043DNAH11c.8511-14C>A (n.8511-14C>A)
c.8532-14C>A (n.8532-14C>A)
gnomAD v4
7g.21748567T>CCA2681987044DNAH11c.8511-13T>C (n.8511-13T>C)
c.8532-13T>C (n.8532-13T>C)
gnomAD v4
7g.21748568T>CCA2681987045DNAH11c.8511-12T>C (n.8511-12T>C)
c.8532-12T>C (n.8532-12T>C)
gnomAD v4
7g.21748569C>ACA2681987046DNAH11c.8511-11C>A (n.8511-11C>A)
c.8532-11C>A (n.8532-11C>A)
gnomAD v4
7g.21748569C>TCA2681987047DNAH11c.8511-11C>T (n.8511-11C>T)
c.8532-11C>T (n.8532-11C>T)
gnomAD v4
7g.21748570C>GCA2681987048DNAH11c.8511-10C>G (n.8511-10C>G)
c.8532-10C>G (n.8532-10C>G)
gnomAD v4
7g.21748570C>TCA2681987049DNAH11c.8511-10C>T (n.8511-10C>T)
c.8532-10C>T (n.8532-10C>T)
gnomAD v4
7g.21748571T>CCA155121235DNAH11c.8511-9T>C (n.8511-9T>C)
c.8532-9T>C (n.8532-9T>C)
dbSNP gnomAD v4
7g.21748571T=CA1693661897DNAH11c.8511-9T= (n.8511-9T=)
c.8532-9T= (n.8532-9T=)
7g.21748573delCA2681987050DNAH11c.8511-7del (n.8511-7del)
c.8532-7del (n.8532-7del)
gnomAD v4
7g.21748572T>CCA1693661899DNAH11c.8511-8T>C (n.8511-8T>C)
c.8532-8T>C (n.8532-8T>C)
ClinVar dbSNP
7g.21748572T=CA1693661906DNAH11c.8511-8T= (n.8511-8T=)
c.8532-8T= (n.8532-8T=)
7g.21748573T>GCA4181632DNAH11c.8511-7T>G (n.8511-7T>G)
c.8532-7T>G (n.8532-7T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748573T=CA1693661912DNAH11c.8511-7T= (n.8511-7T=)
c.8532-7T= (n.8532-7T=)
7g.21748574C>ACA2681987051DNAH11c.8511-6C>A (n.8511-6C>A)
c.8532-6C>A (n.8532-6C>A)
gnomAD v4
7g.21748575C>ACA2681987052DNAH11c.8511-5C>A (n.8511-5C>A)
c.8532-5C>A (n.8532-5C>A)
gnomAD v4
7g.21748575C=CA1693661914DNAH11c.8511-5C= (n.8511-5C=)
c.8532-5C= (n.8532-5C=)
7g.21748575C>TCA4181633DNAH11c.8511-5C>T (n.8511-5C>T)
c.8532-5C>T (n.8532-5C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748576T>CCA2681987053DNAH11c.8511-4T>C (n.8511-4T>C)
c.8532-4T>C (n.8532-4T>C)
gnomAD v4
7g.21748577C>ACA2681987054DNAH11c.8511-3C>A (n.8511-3C>A)
c.8532-3C>A (n.8532-3C>A)
gnomAD v4
7g.21748578A>CCA366955028DNAH11c.8511-2A>C (n.8511-2A>C)
c.8532-2A>C (n.8532-2A>C)
7g.21748578A>GCA366955029DNAH11c.8511-2A>G (n.8511-2A>G)
c.8532-2A>G (n.8532-2A>G)
gnomAD v4
7g.21748578A>TCA366955030DNAH11c.8511-2A>T (n.8511-2A>T)
c.8532-2A>T (n.8532-2A>T)
7g.21748579G>ACA366955031DNAH11c.8511-1G>A (n.8511-1G>A)
c.8532-1G>A (n.8532-1G>A)
7g.21748579G>CCA366955032DNAH11c.8511-1G>C (n.8511-1G>C)
c.8532-1G>C (n.8532-1G>C)
ClinVar dbSNP
7g.21748579G>TCA366955033DNAH11c.8511-1G>T (n.8511-1G>T)
c.8532-1G>T (n.8532-1G>T)
7g.21748580G>ACA453968424DNAH11c.8511G>A (p.Val2837=)
c.8532G>A (p.Val2844=)
gnomAD v4
7g.21748580G>CCA453968425DNAH11c.8511G>C (p.Val2837=)
c.8532G>C (p.Val2844=)
gnomAD v4
7g.21748580G>TCA453968426DNAH11c.8511G>T (p.Val2837=)
c.8532G>T (p.Val2844=)
7g.21748580_21748583delinsATCCGCA2695207509DNAH11c.8511_8514delinsATCCG (p.Cys2838SerfsTer?)
c.8532_8535delinsATCCG (p.Cys2845SerfsTer?)
7g.21748581T>ACA366955034DNAH11c.8512T>A (p.Cys2838Ser)
c.8533T>A (p.Cys2845Ser)
7g.21748581T>CCA366955035DNAH11c.8512T>C (p.Cys2838Arg)
c.8533T>C (p.Cys2845Arg)
dbSNP gnomAD v3 gnomAD v4
7g.21748581T>GCA366955036DNAH11c.8512T>G (p.Cys2838Gly)
c.8533T>G (p.Cys2845Gly)
7g.21748581T=CA1693661919DNAH11c.8512T= (p.Cys2838=)
c.8533T= (p.Cys2845=)
7g.21748582G>ACA366955038DNAH11c.8513G>A (p.Cys2838Tyr)
c.8534G>A (p.Cys2845Tyr)
dbSNP gnomAD v3 gnomAD v4
7g.21748582G>CCA366955039DNAH11c.8513G>C (p.Cys2838Ser)
c.8534G>C (p.Cys2845Ser)
7g.21748582G=CA1693661925DNAH11c.8513G= (p.Cys2838=)
c.8534G= (p.Cys2845=)
7g.21748582G>TCA366955037DNAH11c.8513G>T (p.Cys2838Phe)
c.8534G>T (p.Cys2845Phe)
gnomAD v4
7g.21748583T>ACA366955040DNAH11c.8514T>A (p.Cys2838Ter)
c.8535T>A (p.Cys2845Ter)
7g.21748583T>CCA453968427DNAH11c.8514T>C (p.Cys2838=)
c.8535T>C (p.Cys2845=)
7g.21748583T>GCA366955041DNAH11c.8514T>G (p.Cys2838Trp)
c.8535T>G (p.Cys2845Trp)
7g.21748584C>ACA366955042DNAH11c.8515C>A (p.Arg2839Ser)
c.8536C>A (p.Arg2846Ser)
gnomAD v4
7g.21748584C=CA1693661935DNAH11c.8515C= (p.Arg2839=)
c.8536C= (p.Arg2846=)
7g.21748584C>GCA366955043DNAH11c.8515C>G (p.Arg2839Gly)
c.8536C>G (p.Arg2846Gly)
dbSNP gnomAD v2 gnomAD v4
7g.21748584C>TCA4181634DNAH11c.8515C>T (p.Arg2839Cys)
c.8536C>T (p.Arg2846Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.21748585G>ACA366955046DNAH11c.8516G>A (p.Arg2839His)
c.8537G>A (p.Arg2846His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.21748585G>CCA366955044DNAH11c.8516G>C (p.Arg2839Pro)
c.8537G>C (p.Arg2846Pro)
dbSNP gnomAD v3 gnomAD v4
7g.21748585G=CA1693661941DNAH11c.8516G= (p.Arg2839=)
c.8537G= (p.Arg2846=)
7g.21748585G>TCA366955045DNAH11c.8516G>T (p.Arg2839Leu)
c.8537G>T (p.Arg2846Leu)
ClinVar dbSNP gnomAD v4
7g.21748586C>ACA453968428DNAH11c.8517C>A (p.Arg2839=)
c.8538C>A (p.Arg2846=)
gnomAD v4
7g.21748586C>GCA453968429DNAH11c.8517C>G (p.Arg2839=)
c.8538C>G (p.Arg2846=)
7g.21748586C>TCA453968430DNAH11c.8517C>T (p.Arg2839=)
c.8538C>T (p.Arg2846=)
ClinVar gnomAD v4
7g.21748587A>CCA366955047DNAH11c.8518A>C (p.Ile2840Leu)
c.8539A>C (p.Ile2847Leu)
7g.21748587A>GCA366955048DNAH11c.8518A>G (p.Ile2840Val)
c.8539A>G (p.Ile2847Val)
gnomAD v4
7g.21748587A>TCA366955049DNAH11c.8518A>T (p.Ile2840Phe)
c.8539A>T (p.Ile2847Phe)
7g.21748588T>ACA366955050DNAH11c.8519T>A (p.Ile2840Asn)
c.8540T>A (p.Ile2847Asn)
gnomAD v4
7g.21748588T>CCA366955051DNAH11c.8519T>C (p.Ile2840Thr)
c.8540T>C (p.Ile2847Thr)
7g.21748588T>GCA366955052DNAH11c.8519T>G (p.Ile2840Ser)
c.8540T>G (p.Ile2847Ser)
7g.21748589C>ACA453968431DNAH11c.8520C>A (p.Ile2840=)
c.8541C>A (p.Ile2847=)
gnomAD v4
7g.21748589C>GCA366955053DNAH11c.8520C>G (p.Ile2840Met)
c.8541C>G (p.Ile2847Met)
7g.21748589C>TCA453968432DNAH11c.8520C>T (p.Ile2840=)
c.8541C>T (p.Ile2847=)
7g.21748590A=CA1693661957DNAH11c.8521A= (p.Ser2841=)
c.8542A= (p.Ser2848=)
7g.21748590A>CCA366955054DNAH11c.8521A>C (p.Ser2841Arg)
c.8542A>C (p.Ser2848Arg)
7g.21748590A>GCA4181635DNAH11c.8521A>G (p.Ser2841Gly)
c.8542A>G (p.Ser2848Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748590A>TCA366955055DNAH11c.8521A>T (p.Ser2841Cys)
c.8542A>T (p.Ser2848Cys)
7g.21748591G>ACA366955056DNAH11c.8522G>A (p.Ser2841Asn)
c.8543G>A (p.Ser2848Asn)
dbSNP gnomAD v2 gnomAD v4
7g.21748591G>CCA366955057DNAH11c.8522G>C (p.Ser2841Thr)
c.8543G>C (p.Ser2848Thr)
dbSNP
7g.21748591G=CA1693661964DNAH11c.8522G= (p.Ser2841=)
c.8543G= (p.Ser2848=)
7g.21748591G>TCA366955058DNAH11c.8522G>T (p.Ser2841Ile)
c.8543G>T (p.Ser2848Ile)
gnomAD v4
7g.21748592C>ACA366955059DNAH11c.8523C>A (p.Ser2841Arg)
c.8544C>A (p.Ser2848Arg)
gnomAD v4
7g.21748592C>GCA366955060DNAH11c.8523C>G (p.Ser2841Arg)
c.8544C>G (p.Ser2848Arg)
7g.21748592C>TCA453968433DNAH11c.8523C>T (p.Ser2841=)
c.8544C>T (p.Ser2848=)
gnomAD v4 COSMIC COSMIC
7g.21748593C>ACA453968434DNAH11c.8524C>A (p.Arg2842=)
c.8545C>A (p.Arg2849=)
7g.21748593C=CA1693661969DNAH11c.8524C= (p.Arg2842=)
c.8545C= (p.Arg2849=)
7g.21748593C>GCA366955061DNAH11c.8524C>G (p.Arg2842Gly)
c.8545C>G (p.Arg2849Gly)
dbSNP gnomAD v4
7g.21748593C>TCA366955062DNAH11c.8524C>T (p.Arg2842Trp)
c.8545C>T (p.Arg2849Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.21748594G>ACA4181636DNAH11c.8525G>A (p.Arg2842Gln)
c.8546G>A (p.Arg2849Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.21748594G>CCA366955063DNAH11c.8525G>C (p.Arg2842Pro)
c.8546G>C (p.Arg2849Pro)
dbSNP gnomAD v3 gnomAD v4
7g.21748594G=CA1693661981DNAH11c.8525G= (p.Arg2842=)
c.8546G= (p.Arg2849=)
7g.21748594G>TCA366955064DNAH11c.8525G>T (p.Arg2842Leu)
c.8546G>T (p.Arg2849Leu)
7g.21748595delCA2681987055DNAH11c.8526del (p.Ile2843SerfsTer?)
c.8547del (p.Ile2850SerfsTer?)
gnomAD v4
7g.21748595G>ACA453968435DNAH11c.8526G>A (p.Arg2842=)
c.8547G>A (p.Arg2849=)
gnomAD v4
7g.21748595G>CCA453968436DNAH11c.8526G>C (p.Arg2842=)
c.8547G>C (p.Arg2849=)
gnomAD v4
7g.21748595G>TCA453968437DNAH11c.8526G>T (p.Arg2842=)
c.8547G>T (p.Arg2849=)
7g.21748596A=CA1693661987DNAH11c.8527A= (p.Ile2843=)
c.8548A= (p.Ile2850=)
7g.21748596A>CCA366955065DNAH11c.8527A>C (p.Ile2843Leu)
c.8548A>C (p.Ile2850Leu)
7g.21748596A>GCA4181637DNAH11c.8527A>G (p.Ile2843Val)
c.8548A>G (p.Ile2850Val)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748596A>TCA366955066DNAH11c.8527A>T (p.Ile2843Phe)
c.8548A>T (p.Ile2850Phe)
7g.21748597T>ACA366955067DNAH11c.8528T>A (p.Ile2843Asn)
c.8549T>A (p.Ile2850Asn)
7g.21748597T>CCA366955069DNAH11c.8528T>C (p.Ile2843Thr)
c.8549T>C (p.Ile2850Thr)
7g.21748597T>GCA366955068DNAH11c.8528T>G (p.Ile2843Ser)
c.8549T>G (p.Ile2850Ser)
7g.21748598C>ACA453968438DNAH11c.8529C>A (p.Ile2843=)
c.8550C>A (p.Ile2850=)
gnomAD v4
7g.21748598C>GCA366955070DNAH11c.8529C>G (p.Ile2843Met)
c.8550C>G (p.Ile2850Met)
7g.21748598C>TCA453968439DNAH11c.8529C>T (p.Ile2843=)
c.8550C>T (p.Ile2850=)
7g.21748599T>ACA155121247DNAH11c.8530T>A (p.Leu2844Ile)
c.8551T>A (p.Leu2851Ile)
dbSNP
7g.21748599T>CCA453968440DNAH11c.8530T>C (p.Leu2844=)
c.8551T>C (p.Leu2851=)
gnomAD v4
7g.21748599T>GCA366955071DNAH11c.8530T>G (p.Leu2844Val)
c.8551T>G (p.Leu2851Val)
7g.21748599T=CA1693661992DNAH11c.8530T= (p.Leu2844=)
c.8551T= (p.Leu2851=)
7g.21748600T>ACA366955072DNAH11c.8531T>A (p.Leu2844Ter)
c.8552T>A (p.Leu2851Ter)
7g.21748600T>CCA366955073DNAH11c.8531T>C (p.Leu2844Ser)
c.8552T>C (p.Leu2851Ser)
gnomAD v4
7g.21748600T>GCA366955074DNAH11c.8531T>G (p.Leu2844Ter)
c.8552T>G (p.Leu2851Ter)
7g.21748601A>CCA366955075DNAH11c.8532A>C (p.Leu2844Phe)
c.8553A>C (p.Leu2851Phe)
7g.21748601A>GCA453968441DNAH11c.8532A>G (p.Leu2844=)
c.8553A>G (p.Leu2851=)
7g.21748601A>TCA366955076DNAH11c.8532A>T (p.Leu2844Phe)
c.8553A>T (p.Leu2851Phe)
7g.21748602C>ACA16612080DNAH11c.8533C>A (p.Arg2845=)
c.8554C>A (p.Arg2852=)
ClinVar dbSNP gnomAD v4
7g.21748602C=CA1693662011DNAH11c.8533C= (p.Arg2845=)
c.8554C= (p.Arg2852=)
7g.21748602C>GCA4181638DNAH11c.8533C>G (p.Arg2845Gly)
c.8554C>G (p.Arg2852Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748602C>TCA340592DNAH11c.8533C>T (p.Arg2845Ter)
c.8554C>T (p.Arg2852Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.21748603G>ACA4181639DNAH11c.8534G>A (p.Arg2845Gln)
c.8555G>A (p.Arg2852Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.21748603G>CCA366955079DNAH11c.8534G>C (p.Arg2845Pro)
c.8555G>C (p.Arg2852Pro)
7g.21748603G=CA1693662021DNAH11c.8534G= (p.Arg2845=)
c.8555G= (p.Arg2852=)
7g.21748603G>TCA366955077DNAH11c.8534G>T (p.Arg2845Leu)
c.8555G>T (p.Arg2852Leu)
7g.21748604A>CCA453968444DNAH11c.8535A>C (p.Arg2845=)
c.8556A>C (p.Arg2852=)
7g.21748604A>GCA453968443DNAH11c.8535A>G (p.Arg2845=)
c.8556A>G (p.Arg2852=)
7g.21748604A>TCA453968442DNAH11c.8535A>T (p.Arg2845=)
c.8556A>T (p.Arg2852=)
7g.21748605A=CA1693662030DNAH11c.8536A= (p.Thr2846=)
c.8557A= (p.Thr2853=)
7g.21748605A>CCA366955080DNAH11c.8536A>C (p.Thr2846Pro)
c.8557A>C (p.Thr2853Pro)
7g.21748605A>GCA366955081DNAH11c.8536A>G (p.Thr2846Ala)
c.8557A>G (p.Thr2853Ala)
gnomAD v4
7g.21748605A>TCA4181640DNAH11c.8536A>T (p.Thr2846Ser)
c.8557A>T (p.Thr2853Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748606C>ACA366955082DNAH11c.8537C>A (p.Thr2846Asn)
c.8558C>A (p.Thr2853Asn)
gnomAD v4
7g.21748606C>GCA366955083DNAH11c.8537C>G (p.Thr2846Ser)
c.8558C>G (p.Thr2853Ser)
gnomAD v4
7g.21748606C>TCA366955084DNAH11c.8537C>T (p.Thr2846Ile)
c.8558C>T (p.Thr2853Ile)
gnomAD v4
7g.21748607C>ACA453968447DNAH11c.8538C>A (p.Thr2846=)
c.8559C>A (p.Thr2853=)
gnomAD v4
7g.21748607C>GCA453968446DNAH11c.8538C>G (p.Thr2846=)
c.8559C>G (p.Thr2853=)
7g.21748607C>TCA453968445DNAH11c.8538C>T (p.Thr2846=)
c.8559C>T (p.Thr2853=)
gnomAD v4
7g.21748608C>ACA366955085DNAH11c.8539C>A (p.Pro2847Thr)
c.8560C>A (p.Pro2854Thr)
gnomAD v4
7g.21748608C=CA1693662035DNAH11c.8539C= (p.Pro2847=)
c.8560C= (p.Pro2854=)
7g.21748608C>GCA366955086DNAH11c.8539C>G (p.Pro2847Ala)
c.8560C>G (p.Pro2854Ala)
ClinVar gnomAD v4
7g.21748608C>TCA366955087DNAH11c.8539C>T (p.Pro2847Ser)
c.8560C>T (p.Pro2854Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.21748609C>ACA366955088DNAH11c.8540C>A (p.Pro2847His)
c.8561C>A (p.Pro2854His)
gnomAD v4
7g.21748609C>GCA366955089DNAH11c.8540C>G (p.Pro2847Arg)
c.8561C>G (p.Pro2854Arg)
7g.21748609C>TCA366955090DNAH11c.8540C>T (p.Pro2847Leu)
c.8561C>T (p.Pro2854Leu)
7g.21748610T>ACA453968448DNAH11c.8541T>A (p.Pro2847=)
c.8562T>A (p.Pro2854=)
7g.21748610T>CCA453968450DNAH11c.8541T>C (p.Pro2847=)
c.8562T>C (p.Pro2854=)
7g.21748610T>GCA453968449DNAH11c.8541T>G (p.Pro2847=)
c.8562T>G (p.Pro2854=)
gnomAD v4
7g.21748611C>ACA366955092DNAH11c.8542C>A (p.Gln2848Lys)
c.8563C>A (p.Gln2855Lys)
7g.21748611C>GCA366955093DNAH11c.8542C>G (p.Gln2848Glu)
c.8563C>G (p.Gln2855Glu)
7g.21748611C>TCA366955091DNAH11c.8542C>T (p.Gln2848Ter)
c.8563C>T (p.Gln2855Ter)
7g.21748612A>CCA366955094DNAH11c.8543A>C (p.Gln2848Pro)
c.8564A>C (p.Gln2855Pro)
7g.21748612A>GCA366955095DNAH11c.8543A>G (p.Gln2848Arg)
c.8564A>G (p.Gln2855Arg)
7g.21748612A>TCA366955096DNAH11c.8543A>T (p.Gln2848Leu)
c.8564A>T (p.Gln2855Leu)
COSMIC COSMIC
7g.21748613G>ACA453968451DNAH11c.8544G>A (p.Gln2848=)
c.8565G>A (p.Gln2855=)
7g.21748613G>CCA366955097DNAH11c.8544G>C (p.Gln2848His)
c.8565G>C (p.Gln2855His)
gnomAD v4 COSMIC COSMIC
7g.21748613G>TCA366955098DNAH11c.8544G>T (p.Gln2848His)
c.8565G>T (p.Gln2855His)
7g.21748614G>ACA366955100DNAH11c.8545G>A (p.Gly2849Ser)
c.8566G>A (p.Gly2856Ser)
gnomAD v4
7g.21748614G>CCA366955099DNAH11c.8545G>C (p.Gly2849Arg)
c.8566G>C (p.Gly2856Arg)
7g.21748614G=CA1693662038DNAH11c.8545G= (p.Gly2849=)
c.8566G= (p.Gly2856=)
7g.21748614G>TCA4181641DNAH11c.8545G>T (p.Gly2849Cys)
c.8566G>T (p.Gly2856Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748615G>ACA366955101DNAH11c.8546G>A (p.Gly2849Asp)
c.8567G>A (p.Gly2856Asp)
gnomAD v4
7g.21748615G>CCA366955102DNAH11c.8546G>C (p.Gly2849Ala)
c.8567G>C (p.Gly2856Ala)
7g.21748615G>TCA366955103DNAH11c.8546G>T (p.Gly2849Val)
c.8567G>T (p.Gly2856Val)
7g.21748616C>ACA453968452DNAH11c.8547C>A (p.Gly2849=)
c.8568C>A (p.Gly2856=)
dbSNP
7g.21748616C=CA1693662041DNAH11c.8547C= (p.Gly2849=)
c.8568C= (p.Gly2856=)
7g.21748616C>GCA453968453DNAH11c.8547C>G (p.Gly2849=)
c.8568C>G (p.Gly2856=)
7g.21748616C>TCA453968454DNAH11c.8547C>T (p.Gly2849=)
c.8568C>T (p.Gly2856=)
7g.21748617T>ACA366955104DNAH11c.8548T>A (p.Cys2850Ser)
c.8569T>A (p.Cys2857Ser)
7g.21748617T>CCA366955105DNAH11c.8548T>C (p.Cys2850Arg)
c.8569T>C (p.Cys2857Arg)
7g.21748617T>GCA366955106DNAH11c.8548T>G (p.Cys2850Gly)
c.8569T>G (p.Cys2857Gly)
7g.21748618G>ACA4181642DNAH11c.8549G>A (p.Cys2850Tyr)
c.8570G>A (p.Cys2857Tyr)
dbSNP ExAC gnomAD v2
7g.21748618G>CCA366955108DNAH11c.8549G>C (p.Cys2850Ser)
c.8570G>C (p.Cys2857Ser)
7g.21748618G=CA1693662044DNAH11c.8549G= (p.Cys2850=)
c.8570G= (p.Cys2857=)
7g.21748618G>TCA366955107DNAH11c.8549G>T (p.Cys2850Phe)
c.8570G>T (p.Cys2857Phe)
7g.21748619T>ACA366955109DNAH11c.8550T>A (p.Cys2850Ter)
c.8571T>A (p.Cys2857Ter)
7g.21748619T>CCA155121256DNAH11c.8550T>C (p.Cys2850=)
c.8571T>C (p.Cys2857=)
dbSNP gnomAD v2 gnomAD v4
7g.21748619T>GCA366955110DNAH11c.8550T>G (p.Cys2850Trp)
c.8571T>G (p.Cys2857Trp)
7g.21748619T=CA1693662047DNAH11c.8550T= (p.Cys2850=)
c.8571T= (p.Cys2857=)
7g.21748620_21748622delCA2578843334DNAH11c.8551_8553del (p.Ala2851del)
c.8572_8574del (p.Ala2858del)
7g.21748620G>ACA366955111DNAH11c.8551G>A (p.Ala2851Thr)
c.8572G>A (p.Ala2858Thr)
gnomAD v4 COSMIC COSMIC
7g.21748620G>CCA366955112DNAH11c.8551G>C (p.Ala2851Pro)
c.8572G>C (p.Ala2858Pro)
dbSNP gnomAD v3 gnomAD v4
7g.21748620G=CA1693662051DNAH11c.8551G= (p.Ala2851=)
c.8572G= (p.Ala2858=)
7g.21748620G>TCA366955113DNAH11c.8551G>T (p.Ala2851Ser)
c.8572G>T (p.Ala2858Ser)
7g.21748621C>ACA366955114DNAH11c.8552C>A (p.Ala2851Asp)
c.8573C>A (p.Ala2858Asp)
7g.21748621C=CA1693662059DNAH11c.8552C= (p.Ala2851=)
c.8573C= (p.Ala2858=)
7g.21748621C>GCA4181643DNAH11c.8552C>G (p.Ala2851Gly)
c.8573C>G (p.Ala2858Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748621C>TCA366955115DNAH11c.8552C>T (p.Ala2851Val)
c.8573C>T (p.Ala2858Val)
dbSNP gnomAD v2 gnomAD v4
7g.21748622T>ACA453968457DNAH11c.8553T>A (p.Ala2851=)
c.8574T>A (p.Ala2858=)
7g.21748622T>CCA453968458DNAH11c.8553T>C (p.Ala2851=)
c.8574T>C (p.Ala2858=)
7g.21748622T>GCA453968460DNAH11c.8553T>G (p.Ala2851=)
c.8574T>G (p.Ala2858=)
ClinVar dbSNP
7g.21748623C>ACA366955116DNAH11c.8554C>A (p.Leu2852Ile)
c.8575C>A (p.Leu2859Ile)
7g.21748623C=CA1693662065DNAH11c.8554C= (p.Leu2852=)
c.8575C= (p.Leu2859=)
7g.21748623C>GCA366955117DNAH11c.8554C>G (p.Leu2852Val)
c.8575C>G (p.Leu2859Val)
ClinVar dbSNP
7g.21748623C>TCA366955118DNAH11c.8554C>T (p.Leu2852Phe)
c.8575C>T (p.Leu2859Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.21748624T>ACA4181644DNAH11c.8555T>A (p.Leu2852His)
c.8576T>A (p.Leu2859His)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748624T>CCA366955119DNAH11c.8555T>C (p.Leu2852Pro)
c.8576T>C (p.Leu2859Pro)
dbSNP gnomAD v2 gnomAD v4
7g.21748624T>GCA366955120DNAH11c.8555T>G (p.Leu2852Arg)
c.8576T>G (p.Leu2859Arg)
7g.21748624T=CA1693662073DNAH11c.8555T= (p.Leu2852=)
c.8576T= (p.Leu2859=)
7g.21748625C>ACA453968465DNAH11c.8556C>A (p.Leu2852=)
c.8577C>A (p.Leu2859=)
7g.21748625C>GCA453968467DNAH11c.8556C>G (p.Leu2852=)
c.8577C>G (p.Leu2859=)
7g.21748625C>TCA453968463DNAH11c.8556C>T (p.Leu2852=)
c.8577C>T (p.Leu2859=)
7g.21748626T>ACA366955122DNAH11c.8557T>A (p.Leu2853Met)
c.8578T>A (p.Leu2860Met)
7g.21748626T>CCA453968469DNAH11c.8557T>C (p.Leu2853=)
c.8578T>C (p.Leu2860=)
dbSNP gnomAD v2 gnomAD v4
7g.21748626T>GCA366955121DNAH11c.8557T>G (p.Leu2853Val)
c.8578T>G (p.Leu2860Val)
7g.21748626T=CA1693662076DNAH11c.8557T= (p.Leu2853=)
c.8578T= (p.Leu2860=)
7g.21748627T>ACA366955123DNAH11c.8558T>A (p.Leu2853Ter)
c.8579T>A (p.Leu2860Ter)
7g.21748627T>CCA155121273DNAH11c.8558T>C (p.Leu2853Ser)
c.8579T>C (p.Leu2860Ser)
ClinVar dbSNP gnomAD v4
7g.21748627T>GCA366955124DNAH11c.8558T>G (p.Leu2853Trp)
c.8579T>G (p.Leu2860Trp)
ClinVar dbSNP
7g.21748627T=CA1693662079DNAH11c.8558T= (p.Leu2853=)
c.8579T= (p.Leu2860=)
7g.21748628G>ACA453968470DNAH11c.8559G>A (p.Leu2853=)
c.8580G>A (p.Leu2860=)
ClinVar
7g.21748628G>CCA366955125DNAH11c.8559G>C (p.Leu2853Phe)
c.8580G>C (p.Leu2860Phe)
7g.21748628G>TCA366955126DNAH11c.8559G>T (p.Leu2853Phe)
c.8580G>T (p.Leu2860Phe)
COSMIC
7g.21748629G>ACA366955129DNAH11c.8560G>A (p.Val2854Ile)
c.8581G>A (p.Val2861Ile)
7g.21748629G>CCA366955128DNAH11c.8560G>C (p.Val2854Leu)
c.8581G>C (p.Val2861Leu)
7g.21748629G=CA1693662085DNAH11c.8560G= (p.Val2854=)
c.8581G= (p.Val2861=)
7g.21748629G>TCA366955127DNAH11c.8560G>T (p.Val2854Phe)
c.8581G>T (p.Val2861Phe)
ClinVar dbSNP
7g.21748630T>ACA366955130DNAH11c.8561T>A (p.Val2854Asp)
c.8582T>A (p.Val2861Asp)
7g.21748630T>CCA366955131DNAH11c.8561T>C (p.Val2854Ala)
c.8582T>C (p.Val2861Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.21748630T>GCA366955132DNAH11c.8561T>G (p.Val2854Gly)
c.8582T>G (p.Val2861Gly)
7g.21748630T=CA1693662094DNAH11c.8561T= (p.Val2854=)
c.8582T= (p.Val2861=)
7g.21748631T>ACA453968473DNAH11c.8562T>A (p.Val2854=)
c.8583T>A (p.Val2861=)
7g.21748631T>CCA453968476DNAH11c.8562T>C (p.Val2854=)
c.8583T>C (p.Val2861=)
7g.21748631T>GCA453968475DNAH11c.8562T>G (p.Val2854=)
c.8583T>G (p.Val2861=)
7g.21748632G>ACA16612081DNAH11c.8563G>A (p.Gly2855Arg)
c.8584G>A (p.Gly2862Arg)
ClinVar dbSNP
7g.21748632G>CCA366955133DNAH11c.8563G>C (p.Gly2855Arg)
c.8584G>C (p.Gly2862Arg)
7g.21748632G=CA1693662097DNAH11c.8563G= (p.Gly2855=)
c.8584G= (p.Gly2862=)
7g.21748632G>TCA366955134DNAH11c.8563G>T (p.Gly2855Ter)
c.8584G>T (p.Gly2862Ter)
7g.21748633G>ACA366955135DNAH11c.8564G>A (p.Gly2855Glu)
c.8585G>A (p.Gly2862Glu)
gnomAD v4
7g.21748633G>CCA366955137DNAH11c.8564G>C (p.Gly2855Ala)
c.8585G>C (p.Gly2862Ala)
7g.21748633G>TCA366955136DNAH11c.8564G>T (p.Gly2855Val)
c.8585G>T (p.Gly2862Val)
7g.21748634A>CCA453968478DNAH11c.8565A>C (p.Gly2855=)
c.8586A>C (p.Gly2862=)
7g.21748634A>GCA453968479DNAH11c.8565A>G (p.Gly2855=)
c.8586A>G (p.Gly2862=)
7g.21748634A>TCA453968480DNAH11c.8565A>T (p.Gly2855=)
c.8586A>T (p.Gly2862=)
7g.21748635G>ACA366955138DNAH11c.8566G>A (p.Val2856Ile)
c.8587G>A (p.Val2863Ile)
7g.21748635G>CCA366955139DNAH11c.8566G>C (p.Val2856Leu)
c.8587G>C (p.Val2863Leu)
dbSNP gnomAD v2 gnomAD v4
7g.21748635G=CA1693662098DNAH11c.8566G= (p.Val2856=)
c.8587G= (p.Val2863=)
7g.21748635G>TCA366955140DNAH11c.8566G>T (p.Val2856Phe)
c.8587G>T (p.Val2863Phe)
7g.21748636T>ACA366955141DNAH11c.8567T>A (p.Val2856Asp)
c.8588T>A (p.Val2863Asp)
ClinVar
7g.21748636T>CCA4181645DNAH11c.8567T>C (p.Val2856Ala)
c.8588T>C (p.Val2863Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748636T>GCA366955142DNAH11c.8567T>G (p.Val2856Gly)
c.8588T>G (p.Val2863Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.21748636T=CA1693662099DNAH11c.8567T= (p.Val2856=)
c.8588T= (p.Val2863=)
7g.21748637T>ACA453968483DNAH11c.8568T>A (p.Val2856=)
c.8589T>A (p.Val2863=)
7g.21748637T>CCA453968484DNAH11c.8568T>C (p.Val2856=)
c.8589T>C (p.Val2863=)
7g.21748637T>GCA453968485DNAH11c.8568T>G (p.Val2856=)
c.8589T>G (p.Val2863=)
7g.21748638G>ACA366955144DNAH11c.8569G>A (p.Gly2857Arg)
c.8590G>A (p.Gly2864Arg)
gnomAD v4
7g.21748638G>CCA366955145DNAH11c.8569G>C (p.Gly2857Arg)
c.8590G>C (p.Gly2864Arg)
7g.21748638G>TCA366955146DNAH11c.8569G>T (p.Gly2857Trp)
c.8590G>T (p.Gly2864Trp)
7g.21748639G>ACA366955148DNAH11c.8570G>A (p.Gly2857Glu)
c.8591G>A (p.Gly2864Glu)
7g.21748639G>CCA4181646DNAH11c.8570G>C (p.Gly2857Ala)
c.8591G>C (p.Gly2864Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748639G=CA1693662100DNAH11c.8570G= (p.Gly2857=)
c.8591G= (p.Gly2864=)
7g.21748639G>TCA366955150DNAH11c.8570G>T (p.Gly2857Val)
c.8591G>T (p.Gly2864Val)
7g.21748640G>ACA453968488DNAH11c.8571G>A (p.Gly2857=)
c.8592G>A (p.Gly2864=)
7g.21748640G>CCA453968489DNAH11c.8571G>C (p.Gly2857=)
c.8592G>C (p.Gly2864=)
7g.21748640G>TCA453968490DNAH11c.8571G>T (p.Gly2857=)
c.8592G>T (p.Gly2864=)
7g.21748641G>ACA4181647DNAH11c.8572G>A (p.Gly2858Ser)
c.8593G>A (p.Gly2865Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748641G>CCA366955154DNAH11c.8572G>C (p.Gly2858Arg)
c.8593G>C (p.Gly2865Arg)
7g.21748641G=CA1693662101DNAH11c.8572G= (p.Gly2858=)
c.8593G= (p.Gly2865=)
7g.21748641G>TCA366955152DNAH11c.8572G>T (p.Gly2858Cys)
c.8593G>T (p.Gly2865Cys)
7g.21748642G>ACA4181649DNAH11c.8573G>A (p.Gly2858Asp)
c.8594G>A (p.Gly2865Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.21748642G>CCA366955159DNAH11c.8573G>C (p.Gly2858Ala)
c.8594G>C (p.Gly2865Ala)
gnomAD v4
7g.21748642G=CA1693662102DNAH11c.8573G= (p.Gly2858=)
c.8594G= (p.Gly2865=)
7g.21748642G>TCA4181648DNAH11c.8573G>T (p.Gly2858Val)
c.8594G>T (p.Gly2865Val)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748643C>ACA453968491DNAH11c.8574C>A (p.Gly2858=)
c.8595C>A (p.Gly2865=)
7g.21748643C>GCA453968493DNAH11c.8574C>G (p.Gly2858=)
c.8595C>G (p.Gly2865=)
7g.21748643C>TCA453968494DNAH11c.8574C>T (p.Gly2858=)
c.8595C>T (p.Gly2865=)
COSMIC COSMIC
7g.21748644A>CCA366955160DNAH11c.8575A>C (p.Ser2859Arg)
c.8596A>C (p.Ser2866Arg)
7g.21748644A>GCA366955161DNAH11c.8575A>G (p.Ser2859Gly)
c.8596A>G (p.Ser2866Gly)
gnomAD v4
7g.21748644A>TCA366955163DNAH11c.8575A>T (p.Ser2859Cys)
c.8596A>T (p.Ser2866Cys)
7g.21748645G>ACA366955165DNAH11c.8576G>A (p.Ser2859Asn)
c.8597G>A (p.Ser2866Asn)
7g.21748645G>CCA366955167DNAH11c.8576G>C (p.Ser2859Thr)
c.8597G>C (p.Ser2866Thr)
gnomAD v4
7g.21748645G=CA1693662103DNAH11c.8576G= (p.Ser2859=)
c.8597G= (p.Ser2866=)
7g.21748645G>TCA4181650DNAH11c.8576G>T (p.Ser2859Ile)
c.8597G>T (p.Ser2866Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748646T>ACA366955171DNAH11c.8577T>A (p.Ser2859Arg)
c.8598T>A (p.Ser2866Arg)
7g.21748646T>CCA4181651DNAH11c.8577T>C (p.Ser2859=)
c.8598T>C (p.Ser2866=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748646T>GCA366955174DNAH11c.8577T>G (p.Ser2859Arg)
c.8598T>G (p.Ser2866Arg)
7g.21748646T=CA1693662104DNAH11c.8577T= (p.Ser2859=)
c.8598T= (p.Ser2866=)
7g.21748647G>ACA4181652DNAH11c.8578G>A (p.Gly2860Ser)
c.8599G>A (p.Gly2867Ser)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.21748647G>CCA366955177DNAH11c.8578G>C (p.Gly2860Arg)
c.8599G>C (p.Gly2867Arg)
7g.21748647G=CA1693662105DNAH11c.8578G= (p.Gly2860=)
c.8599G= (p.Gly2867=)
7g.21748647G>TCA366955176DNAH11c.8578G>T (p.Gly2860Cys)
c.8599G>T (p.Gly2867Cys)
7g.21748648G>ACA4181653DNAH11c.8579G>A (p.Gly2860Asp)
c.8600G>A (p.Gly2867Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748648G>CCA366955180DNAH11c.8579G>C (p.Gly2860Ala)
c.8600G>C (p.Gly2867Ala)
7g.21748648G=CA1693662106DNAH11c.8579G= (p.Gly2860=)
c.8600G= (p.Gly2867=)
7g.21748648G>TCA366955179DNAH11c.8579G>T (p.Gly2860Val)
c.8600G>T (p.Gly2867Val)
ClinVar gnomAD v4
7g.21748648_21748651delinsACAGCA16612218DNAH11c.8579_8582delinsACAG (p.Gly2860_Lys2861delinsAspArg)
c.8600_8603delinsACAG (p.Gly2867_Lys2868delinsAspArg)
ClinVar dbSNP
7g.21748648_21748651delinsGCAACA1693662107DNAH11c.8579_8582delinsGCAA (p.Gly2860=)
c.8600_8603delinsGCAA (p.Gly2867=)
7g.21748649C>ACA453968498DNAH11c.8580C>A (p.Gly2860=)
c.8601C>A (p.Gly2867=)
7g.21748649C=CA1693662108DNAH11c.8580C= (p.Gly2860=)
c.8601C= (p.Gly2867=)
7g.21748649C>GCA155121328DNAH11c.8580C>G (p.Gly2860=)
c.8601C>G (p.Gly2867=)
dbSNP gnomAD v3 gnomAD v4
7g.21748649C>TCA4181654DNAH11c.8580C>T (p.Gly2860=)
c.8601C>T (p.Gly2867=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748650A>CCA366955181DNAH11c.8581A>C (p.Lys2861Gln)
c.8602A>C (p.Lys2868Gln)
7g.21748650A>GCA366955182DNAH11c.8581A>G (p.Lys2861Glu)
c.8602A>G (p.Lys2868Glu)
7g.21748650A>TCA366955183DNAH11c.8581A>T (p.Lys2861Ter)
c.8602A>T (p.Lys2868Ter)
gnomAD v4
7g.21748651A>CCA366955185DNAH11c.8582A>C (p.Lys2861Thr)
c.8603A>C (p.Lys2868Thr)
7g.21748651A>GCA366955190DNAH11c.8582A>G (p.Lys2861Arg)
c.8603A>G (p.Lys2868Arg)
7g.21748651A>TCA366955193DNAH11c.8582A>T (p.Lys2861Met)
c.8603A>T (p.Lys2868Met)
7g.21748652G>ACA453968503DNAH11c.8583G>A (p.Lys2861=)
c.8604G>A (p.Lys2868=)
gnomAD v4
7g.21748652G>CCA366955197DNAH11c.8583G>C (p.Lys2861Asn)
c.8604G>C (p.Lys2868Asn)
7g.21748652G>TCA366955201DNAH11c.8583G>T (p.Lys2861Asn)
c.8604G>T (p.Lys2868Asn)
7g.21748653C>ACA366955204DNAH11c.8584C>A (p.Gln2862Lys)
c.8605C>A (p.Gln2869Lys)
7g.21748653C>GCA366955205DNAH11c.8584C>G (p.Gln2862Glu)
c.8605C>G (p.Gln2869Glu)
7g.21748653C>TCA366955207DNAH11c.8584C>T (p.Gln2862Ter)
c.8605C>T (p.Gln2869Ter)
7g.21748654A>CCA366955209DNAH11c.8585A>C (p.Gln2862Pro)
c.8606A>C (p.Gln2869Pro)
7g.21748654A>GCA366955213DNAH11c.8585A>G (p.Gln2862Arg)
c.8606A>G (p.Gln2869Arg)
7g.21748654A>TCA366955211DNAH11c.8585A>T (p.Gln2862Leu)
c.8606A>T (p.Gln2869Leu)
7g.21748655G>ACA453968507DNAH11c.8586G>A (p.Gln2862=)
c.8607G>A (p.Gln2869=)
7g.21748655G>CCA366955216DNAH11c.8586G>C (p.Gln2862His)
c.8607G>C (p.Gln2869His)
dbSNP
7g.21748655G=CA1693662109DNAH11c.8586G= (p.Gln2862=)
c.8607G= (p.Gln2869=)
7g.21748655G>TCA366955218DNAH11c.8586G>T (p.Gln2862His)
c.8607G>T (p.Gln2869His)
7g.21748656A=CA1693662110DNAH11c.8587A= (p.Ser2863=)
c.8608A= (p.Ser2870=)
7g.21748656A>CCA366955221DNAH11c.8587A>C (p.Ser2863Arg)
c.8608A>C (p.Ser2870Arg)
7g.21748656A>GCA366955223DNAH11c.8587A>G (p.Ser2863Gly)
c.8608A>G (p.Ser2870Gly)
dbSNP
7g.21748656A>TCA366955224DNAH11c.8587A>T (p.Ser2863Cys)
c.8608A>T (p.Ser2870Cys)
7g.21748657G>ACA366955227DNAH11c.8588G>A (p.Ser2863Asn)
c.8609G>A (p.Ser2870Asn)
7g.21748657G>CCA4181655DNAH11c.8588G>C (p.Ser2863Thr)
c.8609G>C (p.Ser2870Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.21748657G=CA1693662111DNAH11c.8588G= (p.Ser2863=)
c.8609G= (p.Ser2870=)
7g.21748657G>TCA366955229DNAH11c.8588G>T (p.Ser2863Ile)
c.8609G>T (p.Ser2870Ile)
7g.21748658C>ACA366955231DNAH11c.8589C>A (p.Ser2863Arg)
c.8610C>A (p.Ser2870Arg)
dbSNP gnomAD v3 gnomAD v4
7g.21748658C=CA1693662112DNAH11c.8589C= (p.Ser2863=)
c.8610C= (p.Ser2870=)
7g.21748658C>GCA4181656DNAH11c.8589C>G (p.Ser2863Arg)
c.8610C>G (p.Ser2870Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21748658C>TCA453968513DNAH11c.8589C>T (p.Ser2863=)
c.8610C>T (p.Ser2870=)
dbSNP gnomAD v2 gnomAD v4
7g.21748659T>ACA366955232DNAH11c.8590T>A (p.Leu2864Met)
c.8611T>A (p.Leu2871Met)
7g.21748659T>CCA453968514DNAH11c.8590T>C (p.Leu2864=)
c.8611T>C (p.Leu2871=)
7g.21748659T>GCA366955233DNAH11c.8590T>G (p.Leu2864Val)
c.8611T>G (p.Leu2871Val)

Number of alleles fetched