Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.45645123T>A | CA1543790134 | HCN1 | c.849+62A>T (n.849+62A>T) n.77+62A>T c.*23A>T (n.*23A>T) | dbSNP |
5 | g.45645123T>C | CA2766121171 | HCN1 | c.849+62A>G (n.849+62A>G) n.77+62A>G c.*23A>G (n.*23A>G) | |
5 | g.45645123T= | CA1543790133 | HCN1 | c.849+62A= (n.849+62A=) n.77+62A= c.*23A= (n.*23A=) | |
5 | g.45645127del | CA2578305113 | HCN1 | c.849+61del (n.849+61del) n.77+61del c.*22del (n.*22del) | gnomAD v4 |
5 | g.45645125A>G | CA2504197426 | HCN1 | c.849+60T>C (n.849+60T>C) n.77+60T>C c.*21T>C (n.*21T>C) | |
5 | g.45645125_45645126insTT | CA2673782180 | HCN1 | c.849+59_849+60insAA (n.849+59_849+60insAA) n.77+59_77+60insAA c.*20_*21insAA (n.*20_*21insAA) | gnomAD v4 |
5 | g.45645127A= | CA1543790136 | HCN1 | c.849+58T= (n.849+58T=) n.77+58T= c.*19T= (n.*19T=) | |
5 | g.45645127A>C | CA559412234 | HCN1 | c.849+58T>G (n.849+58T>G) n.77+58T>G c.*19T>G (n.*19T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645127A>G | CA2673782181 | HCN1 | c.849+58T>C (n.849+58T>C) n.77+58T>C c.*19T>C (n.*19T>C) | gnomAD v4 |
5 | g.45645127A>T | CA2578305114 | HCN1 | c.849+58T>A (n.849+58T>A) n.77+58T>A c.*19T>A (n.*19T>A) | gnomAD v4 |
5 | g.45645128C>A | CA2673782182 | HCN1 | c.849+57G>T (n.849+57G>T) n.77+57G>T c.*18G>T (n.*18G>T) | gnomAD v4 |
5 | g.45645128C= | CA1543790138 | HCN1 | c.849+57G= (n.849+57G=) n.77+57G= c.*18G= (n.*18G=) | |
5 | g.45645128C>T | CA118324600 | HCN1 | c.849+57G>A (n.849+57G>A) n.77+57G>A c.*18G>A (n.*18G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645130G>T | CA2578305115 | HCN1 | c.849+55C>A (n.849+55C>A) n.77+55C>A c.*16C>A (n.*16C>A) | gnomAD v4 |
5 | g.45645131C>A | CA118324601 | HCN1 | c.849+54G>T (n.849+54G>T) n.77+54G>T c.*15G>T (n.*15G>T) | dbSNP |
5 | g.45645131C= | CA1543790141 | HCN1 | c.849+54G= (n.849+54G=) n.77+54G= c.*15G= (n.*15G=) | |
5 | g.45645131C>G | CA118324602 | HCN1 | c.849+54G>C (n.849+54G>C) n.77+54G>C c.*15G>C (n.*15G>C) | dbSNP |
5 | g.45645132C>T | CA2673782183 | HCN1 | c.849+53G>A (n.849+53G>A) n.77+53G>A c.*14G>A (n.*14G>A) | gnomAD v4 |
5 | g.45645133A= | CA1543790144 | HCN1 | c.849+52T= (n.849+52T=) n.77+52T= c.*13T= (n.*13T=) | |
5 | g.45645133A>G | CA1543790145 | HCN1 | c.849+52T>C (n.849+52T>C) n.77+52T>C c.*13T>C (n.*13T>C) | dbSNP |
5 | g.45645134T>C | CA1543790151 | HCN1 | c.849+51A>G (n.849+51A>G) n.77+51A>G c.*12A>G (n.*12A>G) | dbSNP gnomAD v4 |
5 | g.45645134T>G | CA1543790158 | HCN1 | c.849+51A>C (n.849+51A>C) n.77+51A>C c.*12A>C (n.*12A>C) | dbSNP gnomAD v4 |
5 | g.45645134T= | CA1543790154 | HCN1 | c.849+51A= (n.849+51A=) n.77+51A= c.*12A= (n.*12A=) | |
5 | g.45645134_45645135delinsTA | CA1543790148 | HCN1 | c.849+50_849+51delinsTA (n.849+50_849+51delinsTA) n.77+50_77+51delinsTA c.*11_*12delinsTA (n.*11_*12delinsTA) | |
5 | g.45645136del | CA1075717901 | HCN1 | c.849+50del (n.849+50del) n.77+50del c.*11del (n.*11del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.45645137T>C | CA3259404 | HCN1 | c.849+48A>G (n.849+48A>G) n.77+48A>G c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645137T= | CA1543790164 | HCN1 | c.849+48A= (n.849+48A=) n.77+48A= c.*9A= (n.*9A=) | |
5 | g.45645140A= | CA1543790174 | HCN1 | c.849+45T= (n.849+45T=) n.77+45T= c.*6T= (n.*6T=) | |
5 | g.45645140A>G | CA3259405 | HCN1 | c.849+45T>C (n.849+45T>C) n.77+45T>C c.*6T>C (n.*6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645141C>T | CA2673782184 | HCN1 | c.849+44G>A (n.849+44G>A) n.77+44G>A c.*5G>A (n.*5G>A) | gnomAD v4 |
5 | g.45645142A= | CA1543790179 | HCN1 | c.849+43T= (n.849+43T=) n.77+43T= c.*4T= (n.*4T=) | |
5 | g.45645142A>G | CA118324603 | HCN1 | c.849+43T>C (n.849+43T>C) n.77+43T>C c.*4T>C (n.*4T>C) | dbSNP gnomAD v4 |
5 | g.45645144T>C | CA1543790186 | HCN1 | c.849+41A>G (n.849+41A>G) n.77+41A>G c.*2A>G (n.*2A>G) | dbSNP gnomAD v4 |
5 | g.45645144T>G | CA559412235 | HCN1 | c.849+41A>C (n.849+41A>C) n.77+41A>C c.*2A>C (n.*2A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.45645144T= | CA1543790183 | HCN1 | c.849+41A= (n.849+41A=) n.77+41A= c.*2A= (n.*2A=) | |
5 | g.45645146T>C | CA2673782185 | HCN1 | c.849+39A>G (n.849+39A>G) n.77+39A>G c.888A>G (p.Ter296Trp) | gnomAD v4 |
5 | g.45645146T>G | CA811133801 | HCN1 | c.849+39A>C (n.849+39A>C) n.77+39A>C c.888A>C (p.Ter296Cys) | dbSNP |
5 | g.45645146T= | CA1543790188 | HCN1 | c.849+39A= (n.849+39A=) n.77+39A= c.888A= (p.Ter296=) | |
5 | g.45645147C>A | CA2673782186 | HCN1 | c.849+38G>T (n.849+38G>T) n.77+38G>T c.887G>T (p.Ter296Leu) | gnomAD v4 |
5 | g.45645147C= | CA1543790191 | HCN1 | c.849+38G= (n.849+38G=) n.77+38G= c.887G= (p.Ter296=) | |
5 | g.45645147C>G | CA3259406 | HCN1 | c.849+38G>C (n.849+38G>C) n.77+38G>C c.887G>C (p.Ter296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.45645148A= | CA1543790192 | HCN1 | c.849+37T= (n.849+37T=) n.77+37T= c.886T= (p.Ter296=) | |
5 | g.45645148A>G | CA1543790193 | HCN1 | c.849+37T>C (n.849+37T>C) n.77+37T>C c.886T>C (p.Ter296Arg) | dbSNP |
5 | g.45645149T>C | CA3259407 | HCN1 | c.849+36A>G (n.849+36A>G) n.77+36A>G c.885A>G (p.Ser295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645149T= | CA1543790194 | HCN1 | c.849+36A= (n.849+36A=) n.77+36A= c.885A= (p.Ser295=) | |
5 | g.45645150G>A | CA2708955787 | HCN1 | c.849+35C>T (n.849+35C>T) n.77+35C>T c.884C>T (p.Ser295Leu) | dbSNP |
5 | g.45645150G>T | CA2673782187 | HCN1 | c.849+35C>A (n.849+35C>A) n.77+35C>A c.884C>A (p.Ser295Ter) | gnomAD v4 |
5 | g.45645152T>A | CA3259408 | HCN1 | c.849+33A>T (n.849+33A>T) n.77+33A>T c.882A>T (p.Ile294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645152T>C | CA2673782188 | HCN1 | c.849+33A>G (n.849+33A>G) n.77+33A>G c.882A>G (p.Ile294Met) | gnomAD v4 |
5 | g.45645152T= | CA1543790196 | HCN1 | c.849+33A= (n.849+33A=) n.77+33A= c.882A= (p.Ile294=) | |
5 | g.45645153A>T | CA2673782189 | HCN1 | c.849+32T>A (n.849+32T>A) n.77+32T>A c.881T>A (p.Ile294Lys) | gnomAD v4 |
5 | g.45645153_45645159delinsATAGATT | CA1543790199 | HCN1 | c.849+26_849+32delinsAATCTAT (n.849+26_849+32delinsAATCTAT) n.77+26_77+32delinsAATCTAT c.875_881delinsAATCTAT (p.Lys292=) | |
5 | g.45645154T>A | CA2673782190 | HCN1 | c.849+31A>T (n.849+31A>T) n.77+31A>T c.880A>T (p.Ile294Leu) | gnomAD v4 |
5 | g.45645154T>C | CA118324604 | HCN1 | c.849+31A>G (n.849+31A>G) n.77+31A>G c.880A>G (p.Ile294Val) | dbSNP gnomAD v4 |
5 | g.45645154T= | CA1543790202 | HCN1 | c.849+31A= (n.849+31A=) n.77+31A= c.880A= (p.Ile294=) | |
5 | g.45645156_45645161del | CA1075717902 | HCN1 | c.849+26_849+31del (n.849+26_849+31del) n.77+26_77+31del c.875_880del (p.Lys292_Ser293del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.45645155A>T | CA2673782191 | HCN1 | c.849+30T>A (n.849+30T>A) n.77+30T>A c.879T>A (p.Ser293=) | gnomAD v4 |
5 | g.45645156G>A | CA559412236 | HCN1 | c.849+29C>T (n.849+29C>T) n.77+29C>T c.878C>T (p.Ser293Phe) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.45645156G>C | CA3259409 | HCN1 | c.849+29C>G (n.849+29C>G) n.77+29C>G c.878C>G (p.Ser293Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645156G= | CA1543790207 | HCN1 | c.849+29C= (n.849+29C=) n.77+29C= c.878C= (p.Ser293=) | |
5 | g.45645156G>T | CA2673782192 | HCN1 | c.849+29C>A (n.849+29C>A) n.77+29C>A c.878C>A (p.Ser293Tyr) | gnomAD v4 |
5 | g.45645157A= | CA1543790211 | HCN1 | c.849+28T= (n.849+28T=) n.77+28T= c.877T= (p.Ser293=) | |
5 | g.45645157A>G | CA811133810 | HCN1 | c.849+28T>C (n.849+28T>C) n.77+28T>C c.877T>C (p.Ser293Pro) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.45645158T>C | CA2673782193 | HCN1 | c.849+27A>G (n.849+27A>G) n.77+27A>G c.876A>G (p.Lys292=) | gnomAD v4 |
5 | g.45645161A= | CA1543790214 | HCN1 | c.849+24T= (n.849+24T=) n.77+24T= c.873T= (p.Phe291=) | |
5 | g.45645161A>T | CA3259410 | HCN1 | c.849+24T>A (n.849+24T>A) n.77+24T>A c.873T>A (p.Phe291Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.45645166_45645167insAAAAAAAAAAAAA | CA2673782194 | HCN1 | c.849+24_849+25insTTTTTTTTTTTTT (n.849+24_849+25insTTTTTTTTTTTTT) n.77+24_77+25insTTTTTTTTTTTTT c.873_874insTTTTTTTTTTTTT (p.Lys292PhefsTer5) | gnomAD v4 |
5 | g.45645166del | CA2673782195 | HCN1 | c.849+24del (n.849+24del) n.77+24del c.873del (p.Phe291LeufsTer?) | gnomAD v4 |
5 | g.45645162A= | CA1543790217 | HCN1 | c.849+23T= (n.849+23T=) n.77+23T= c.872T= (p.Phe291=) | |
5 | g.45645162A>G | CA3259411 | HCN1 | c.849+23T>C (n.849+23T>C) n.77+23T>C c.872T>C (p.Phe291Ser) | dbSNP ExAC gnomAD v2 |
5 | g.45645169_45645174del | CA2580613559 | HCN1 | c.849+18_849+23del (n.849+18_849+23del) n.77+18_77+23del c.867_872del (p.Phe290_Phe291del) | ClinVar |
5 | g.45645165A>T | CA2673782196 | HCN1 | c.849+20T>A (n.849+20T>A) n.77+20T>A c.869T>A (p.Phe290Tyr) | gnomAD v4 |
5 | g.45645167G>A | CA2673782197 | HCN1 | c.849+18C>T (n.849+18C>T) n.77+18C>T c.867C>T (p.Phe289=) | gnomAD v4 |
5 | g.45645172dup | CA2673782198 | HCN1 | c.849+17dup (n.849+17dup) n.77+17dup c.866dup (p.Phe290LeufsTer3) | gnomAD v4 |
5 | g.45645172del | CA2673782199 | HCN1 | c.849+17del (n.849+17del) n.77+17del c.866del (p.Phe289SerfsTer?) | gnomAD v4 |
5 | g.45645170A>G | CA2673782200 | HCN1 | c.849+15T>C (n.849+15T>C) n.77+15T>C c.864T>C (p.Phe288=) | ClinVar gnomAD v4 |
5 | g.45645172A>C | CA2739274737 | HCN1 | c.849+13T>G (n.849+13T>G) n.77+13T>G c.862T>G (p.Phe288Val) | ClinVar |
5 | g.45645172A>G | CA2673782201 | HCN1 | c.849+13T>C (n.849+13T>C) n.77+13T>C c.862T>C (p.Phe288Leu) | gnomAD v4 |
5 | g.45645173G>T | CA2555342911 | HCN1 | c.849+12C>A (n.849+12C>A) n.77+12C>A c.861C>A (p.Ile287=) | gnomAD v4 |
5 | g.45645174A= | CA1543790218 | HCN1 | c.849+11T= (n.849+11T=) n.77+11T= c.860T= (p.Ile287=) | |
5 | g.45645174A>T | CA1543790219 | HCN1 | c.849+11T>A (n.849+11T>A) n.77+11T>A c.860T>A (p.Ile287Asn) | ClinVar dbSNP |
5 | g.45645176G>A | CA2673782202 | HCN1 | c.849+9C>T (n.849+9C>T) n.77+9C>T c.858C>T (p.Cys286=) | gnomAD v4 |
5 | g.45645176G>T | CA2673782203 | HCN1 | c.849+9C>A (n.849+9C>A) n.77+9C>A c.858C>A (p.Cys286Ter) | gnomAD v4 |
5 | g.45645177C= | CA1543790220 | HCN1 | c.849+8G= (n.849+8G=) n.77+8G= c.857G= (p.Cys286=) | |
5 | g.45645177C>T | CA3259412 | HCN1 | c.849+8G>A (n.849+8G>A) n.77+8G>A c.857G>A (p.Cys286Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.45645178A>G | CA2673782204 | HCN1 | c.849+7T>C (n.849+7T>C) n.77+7T>C c.856T>C (p.Cys286Arg) | gnomAD v4 |
5 | g.45645178A>T | CA2842482539 | HCN1 | c.849+7T>A (n.849+7T>A) n.77+7T>A c.856T>A (p.Cys286Ser) | |
5 | g.45645179T>C | CA811133817 | HCN1 | c.849+6A>G (n.849+6A>G) n.77+6A>G c.855A>G (p.Arg285=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.45645179T= | CA1543790223 | HCN1 | c.849+6A= (n.849+6A=) n.77+6A= c.855A= (p.Arg285=) | |
5 | g.45645180C>T | CA2708955811 | HCN1 | c.849+5G>A (n.849+5G>A) n.77+5G>A c.854G>A (p.Arg285Lys) | dbSNP |
5 | g.45645182T>G | CA2673782205 | HCN1 | c.849+3A>C (n.849+3A>C) n.77+3A>C c.852A>C (p.Val284=) | gnomAD v4 |
5 | g.45645183A>C | CA359706970 | HCN1 | c.849+2T>G (n.849+2T>G) n.77+2T>G c.851T>G (p.Val284Gly) | |
5 | g.45645183A>G | CA359706968 | HCN1 | c.849+2T>C (n.849+2T>C) n.77+2T>C c.851T>C (p.Val284Ala) | |
5 | g.45645183A>T | CA359706969 | HCN1 | c.849+2T>A (n.849+2T>A) n.77+2T>A c.851T>A (p.Val284Glu) | |
5 | g.45645184C>A | CA359706971 | HCN1 | c.849+1G>T (n.849+1G>T) n.77+1G>T c.850G>T (p.Val284Leu) | gnomAD v3 gnomAD v4 |
5 | g.45645184C>G | CA359706972 | HCN1 | c.849+1G>C (n.849+1G>C) n.77+1G>C c.850G>C (p.Val284Leu) | |
5 | g.45645184C>T | CA359706973 | HCN1 | c.849+1G>A (n.849+1G>A) n.77+1G>A c.850G>A (p.Val284Ile) | |
5 | g.45645185C>A | CA359706974 | HCN1 | c.849G>T (p.Glu283Asp) n.77G>T | |
5 | g.45645185C>G | CA359706975 | HCN1 | c.849G>C (p.Glu283Asp) n.77G>C | |
5 | g.45645185C>T | CA444260171 | HCN1 | c.849G>A (p.Glu283=) n.77G>A | |
5 | g.45645187_45645188del | CA2673782206 | HCN1 | c.848_849del (p.Glu283AspfsTer7) n.76_77del c.848_849del (p.Glu283GlyfsTer9) | gnomAD v4 |
5 | g.45645186T>A | CA359706976 | HCN1 | c.848A>T (p.Glu283Val) n.76A>T | |
5 | g.45645186T>C | CA359706977 | HCN1 | c.848A>G (p.Glu283Gly) n.76A>G | |
5 | g.45645186T>G | CA359706978 | HCN1 | c.848A>C (p.Glu283Ala) n.76A>C | |
5 | g.45645187C>A | CA359706979 | HCN1 | c.847G>T (p.Glu283Ter) n.75G>T | |
5 | g.45645187C>G | CA359706980 | HCN1 | c.847G>C (p.Glu283Gln) n.75G>C | |
5 | g.45645187C>T | CA359706981 | HCN1 | c.847G>A (p.Glu283Lys) n.75G>A | COSMIC |
5 | g.45645188T>A | CA359706982 | HCN1 | c.846A>T (p.Glu282Asp) n.74A>T | |
5 | g.45645188T>C | CA444260181 | HCN1 | c.846A>G (p.Glu282=) n.74A>G | gnomAD v4 |
5 | g.45645188T>G | CA359706983 | HCN1 | c.846A>C (p.Glu282Asp) n.74A>C | |
5 | g.45645189T>A | CA359706986 | HCN1 | c.845A>T (p.Glu282Val) n.73A>T | |
5 | g.45645189T>C | CA359706984 | HCN1 | c.845A>G (p.Glu282Gly) n.73A>G | |
5 | g.45645189T>G | CA359706985 | HCN1 | c.845A>C (p.Glu282Ala) n.73A>C | |
5 | g.45645190C>A | CA359706987 | HCN1 | c.844G>T (p.Glu282Ter) n.72G>T | |
5 | g.45645190C>G | CA359706988 | HCN1 | c.844G>C (p.Glu282Gln) n.72G>C | |
5 | g.45645190C>T | CA359706989 | HCN1 | c.844G>A (p.Glu282Lys) n.72G>A | ClinVar COSMIC |
5 | g.45645191C>A | CA359706990 | HCN1 | c.843G>T (p.Trp281Cys) n.71G>T | |
5 | g.45645191C= | CA1543790224 | HCN1 | c.843G= (p.Trp281=) n.71G= | |
5 | g.45645191C>G | CA359706991 | HCN1 | c.843G>C (p.Trp281Cys) n.71G>C | |
5 | g.45645191C>T | CA3259413 | HCN1 | c.843G>A (p.Trp281Ter) n.71G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.45645192C>A | CA359706994 | HCN1 | c.842G>T (p.Trp281Leu) n.70G>T | COSMIC |
5 | g.45645192C>G | CA359706992 | HCN1 | c.842G>C (p.Trp281Ser) n.70G>C | |
5 | g.45645192C>T | CA359706993 | HCN1 | c.842G>A (p.Trp281Ter) n.70G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.45645193A= | CA1543790227 | HCN1 | c.841T= (p.Trp281=) n.69T= | |
5 | g.45645193A>C | CA359706995 | HCN1 | c.841T>G (p.Trp281Gly) n.69T>G | |
5 | g.45645193A>G | CA359706996 | HCN1 | c.841T>C (p.Trp281Arg) n.69T>C | |
5 | g.45645193A>T | CA3259414 | HCN1 | c.841T>A (p.Trp281Arg) n.69T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.45645194T>A | CA359706997 | HCN1 | c.840A>T (p.Gln280His) n.68A>T | |
5 | g.45645194T>C | CA444260197 | HCN1 | c.840A>G (p.Gln280=) n.68A>G | ClinVar gnomAD v4 |
5 | g.45645194T>G | CA359706998 | HCN1 | c.840A>C (p.Gln280His) n.68A>C | |
5 | g.45645195T>A | CA359707001 | HCN1 | c.839A>T (p.Gln280Leu) n.67A>T | |
5 | g.45645195T>C | CA359706999 | HCN1 | c.839A>G (p.Gln280Arg) n.67A>G | |
5 | g.45645195T>G | CA359707000 | HCN1 | c.839A>C (p.Gln280Pro) n.67A>C | |
5 | g.45645196G>A | CA359707002 | HCN1 | c.838C>T (p.Gln280Ter) n.66C>T | |
5 | g.45645196G>C | CA359707003 | HCN1 | c.838C>G (p.Gln280Glu) n.66C>G | |
5 | g.45645196G>T | CA359707004 | HCN1 | c.838C>A (p.Gln280Lys) n.66C>A | |
5 | g.45645197A>C | CA359707005 | HCN1 | c.837T>G (p.His279Gln) n.65T>G | |
5 | g.45645197A>G | CA444260208 | HCN1 | c.837T>C (p.His279=) n.65T>C | |
5 | g.45645197A>T | CA359707006 | HCN1 | c.837T>A (p.His279Gln) n.65T>A | gnomAD v4 |
5 | g.45645203_45645206dup | CA2673782207 | HCN1 | c.834_837dup (p.Gln280ThrfsTer12) n.62_65dup c.834_837dup (p.Gln280ThrfsTer14) | gnomAD v4 |
5 | g.45645198T>A | CA359707007 | HCN1 | c.836A>T (p.His279Leu) n.64A>T | |
5 | g.45645198T>C | CA359707008 | HCN1 | c.836A>G (p.His279Arg) n.64A>G | |
5 | g.45645198T>G | CA359707009 | HCN1 | c.836A>C (p.His279Pro) n.64A>C | |
5 | g.45645199G>A | CA163275 | HCN1 | c.835C>T (p.His279Tyr) n.63C>T | ClinVar dbSNP COSMIC |
5 | g.45645199G>C | CA359707010 | HCN1 | c.835C>G (p.His279Asp) n.63C>G | |
5 | g.45645199G= | CA1543790241 | HCN1 | c.835C= (p.His279=) n.63C= | |
5 | g.45645199G>T | CA359707011 | HCN1 | c.835C>A (p.His279Asn) n.63C>A | |
5 | g.45645200T>A | CA444260217 | HCN1 | c.834A>T (p.Ile278=) n.62A>T | |
5 | g.45645200T>C | CA359707012 | HCN1 | c.834A>G (p.Ile278Met) n.62A>G | |
5 | g.45645200T>G | CA444260220 | HCN1 | c.834A>C (p.Ile278=) n.62A>C | |
5 | g.45645200dup | CA2578305116 | HCN1 | c.834dup (p.His279ThrfsTer12) n.62dup c.834dup (p.His279ThrfsTer14) | |
5 | g.45645201A>C | CA359707013 | HCN1 | c.833T>G (p.Ile278Arg) n.61T>G | |
5 | g.45645201A>G | CA359707015 | HCN1 | c.833T>C (p.Ile278Thr) n.61T>C | |
5 | g.45645201A>T | CA359707014 | HCN1 | c.833T>A (p.Ile278Lys) n.61T>A | |
5 | g.45645202T>A | CA359707016 | HCN1 | c.832A>T (p.Ile278Leu) n.60A>T | |
5 | g.45645202T>C | CA359707018 | HCN1 | c.832A>G (p.Ile278Val) n.60A>G | ClinVar |
5 | g.45645202T>G | CA359707017 | HCN1 | c.832A>C (p.Ile278Leu) n.60A>C | |
5 | g.45645203G>A | CA444260227 | HCN1 | c.831C>T (p.Tyr277=) n.59C>T | gnomAD v4 |
5 | g.45645203G>C | CA359707019 | HCN1 | c.831C>G (p.Tyr277Ter) n.59C>G | ClinVar dbSNP |
5 | g.45645203G= | CA1543790247 | HCN1 | c.831C= (p.Tyr277=) n.59C= | |
5 | g.45645203G>T | CA359707020 | HCN1 | c.831C>A (p.Tyr277Ter) n.59C>A | |
5 | g.45645204T>A | CA359707021 | HCN1 | c.830A>T (p.Tyr277Phe) n.58A>T | |
5 | g.45645204T>C | CA359707022 | HCN1 | c.830A>G (p.Tyr277Cys) n.58A>G | |
5 | g.45645204T>G | CA359707023 | HCN1 | c.830A>C (p.Tyr277Ser) n.58A>C | |
5 | g.45645205A>C | CA359707024 | HCN1 | c.829T>G (p.Tyr277Asp) n.57T>G | |
5 | g.45645205A>G | CA359707025 | HCN1 | c.829T>C (p.Tyr277His) n.57T>C | gnomAD v4 |
5 | g.45645205A>T | CA359707026 | HCN1 | c.829T>A (p.Tyr277Asn) n.57T>A | |
5 | g.45645206T>A | CA359707027 | HCN1 | c.828A>T (p.Arg276Ser) n.56A>T | dbSNP |
5 | g.45645206T>C | CA444260239 | HCN1 | c.828A>G (p.Arg276=) n.56A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.45645206T>G | CA359707028 | HCN1 | c.828A>C (p.Arg276Ser) n.56A>C | |
5 | g.45645206T= | CA1543790255 | HCN1 | c.828A= (p.Arg276=) n.56A= | |
5 | g.45645207C>A | CA359707031 | HCN1 | c.827G>T (p.Arg276Ile) n.55G>T | |
5 | g.45645207C>G | CA359707030 | HCN1 | c.827G>C (p.Arg276Thr) n.55G>C | |
5 | g.45645207C>T | CA359707029 | HCN1 | c.827G>A (p.Arg276Lys) n.55G>A | |
5 | g.45645208T>A | CA359707032 | HCN1 | c.826A>T (p.Arg276Ter) n.54A>T | |
5 | g.45645208T>C | CA359707033 | HCN1 | c.826A>G (p.Arg276Gly) n.54A>G | COSMIC |
5 | g.45645208T>G | CA444260245 | HCN1 | c.826A>C (p.Arg276=) n.54A>C | ClinVar |
5 | g.45645211_45645214del | CA2739274738 | HCN1 | c.823_826del (p.Ile275AspfsTer12) n.51_54del c.823_826del (p.Ile275AspfsTer9) | ClinVar |
5 | g.45645209A>C | CA359707034 | HCN1 | c.825T>G (p.Ile275Met) n.53T>G | |
5 | g.45645209A>G | CA444260248 | HCN1 | c.825T>C (p.Ile275=) n.53T>C | |
5 | g.45645209A>T | CA444260249 | HCN1 | c.825T>A (p.Ile275=) n.53T>A | |
5 | g.45645210A>C | CA359707035 | HCN1 | c.824T>G (p.Ile275Ser) n.52T>G | |
5 | g.45645210A>G | CA359707036 | HCN1 | c.824T>C (p.Ile275Thr) n.52T>C | |
5 | g.45645210A>T | CA359707037 | HCN1 | c.824T>A (p.Ile275Asn) n.52T>A | |
5 | g.45645211T>A | CA359707038 | HCN1 | c.823A>T (p.Ile275Phe) n.51A>T | |
5 | g.45645211T>C | CA359707039 | HCN1 | c.823A>G (p.Ile275Val) n.51A>G | |
5 | g.45645211T>G | CA359707040 | HCN1 | c.823A>C (p.Ile275Leu) n.51A>C | |
5 | g.45645212T>A | CA359707041 | HCN1 | c.822A>T (p.Leu274Phe) n.50A>T | |
5 | g.45645212T>C | CA444260258 | HCN1 | c.822A>G (p.Leu274=) n.50A>G | gnomAD v4 |
5 | g.45645212T>G | CA359707042 | HCN1 | c.822A>C (p.Leu274Phe) n.50A>C | |
5 | g.45645213A>C | CA359707044 | HCN1 | c.821T>G (p.Leu274Ter) n.49T>G | |
5 | g.45645213A>G | CA359707045 | HCN1 | c.821T>C (p.Leu274Ser) n.49T>C | COSMIC |
5 | g.45645213A>T | CA359707043 | HCN1 | c.821T>A (p.Leu274Ter) n.49T>A | |
5 | g.45645214A>C | CA359707046 | HCN1 | c.820T>G (p.Leu274Val) n.48T>G | |
5 | g.45645214A>G | CA444260265 | HCN1 | c.820T>C (p.Leu274=) n.48T>C | |
5 | g.45645214A>T | CA359707047 | HCN1 | c.820T>A (p.Leu274Ile) n.48T>A | |
5 | g.45645215C>A | CA359707048 | HCN1 | c.819G>T (p.Arg273Ser) n.47G>T | COSMIC |
5 | g.45645215C>G | CA359707049 | HCN1 | c.819G>C (p.Arg273Ser) n.47G>C | |
5 | g.45645215C>T | CA444260268 | HCN1 | c.819G>A (p.Arg273=) n.47G>A | |
5 | g.45645216C>A | CA359707050 | HCN1 | c.818G>T (p.Arg273Met) n.46G>T | |
5 | g.45645216C= | CA1543790266 | HCN1 | c.818G= (p.Arg273=) n.46G= | |
5 | g.45645216C>G | CA359707051 | HCN1 | c.818G>C (p.Arg273Thr) n.46G>C | |
5 | g.45645216C>T | CA118324605 | HCN1 | c.818G>A (p.Arg273Lys) n.46G>A | dbSNP COSMIC |
5 | g.45645217T>A | CA359707052 | HCN1 | c.817A>T (p.Arg273Trp) n.45A>T | |
5 | g.45645217T>C | CA359707053 | HCN1 | c.817A>G (p.Arg273Gly) n.45A>G | |
5 | g.45645217T>G | CA444260275 | HCN1 | c.817A>C (p.Arg273=) n.45A>C | |
5 | g.45645218T>A | CA444260277 | HCN1 | c.816A>T (p.Ser272=) n.44A>T | |
5 | g.45645218T>C | CA444260279 | HCN1 | c.816A>G (p.Ser272=) n.44A>G | |
5 | g.45645218T>G | CA444260280 | HCN1 | c.816A>C (p.Ser272=) n.44A>C | dbSNP |
5 | g.45645218T= | CA1543790270 | HCN1 | c.816A= (p.Ser272=) n.44A= | |
5 | g.45645219G>A | CA359707054 | HCN1 | c.815C>T (p.Ser272Leu) n.43C>T | |
5 | g.45645219G>C | CA359707055 | HCN1 | c.815C>G (p.Ser272Ter) n.43C>G | |
5 | g.45645219G>T | CA359707056 | HCN1 | c.815C>A (p.Ser272Ter) n.43C>A | |
5 | g.45645220A= | CA1543790275 | HCN1 | c.814T= (p.Ser272=) n.42T= | |
5 | g.45645220A>C | CA359707058 | HCN1 | c.814T>G (p.Ser272Ala) n.42T>G | |
5 | g.45645220A>G | CA163273 | HCN1 | c.814T>C (p.Ser272Pro) n.42T>C | ClinVar dbSNP |
5 | g.45645220A>T | CA359707057 | HCN1 | c.814T>A (p.Ser272Thr) n.42T>A | |
5 | g.45645221A>C | CA444260289 | HCN1 | c.813T>G (p.Leu271=) n.41T>G | |
5 | g.45645221A>G | CA444260291 | HCN1 | c.813T>C (p.Leu271=) n.41T>C | |
5 | g.45645221A>T | CA444260292 | HCN1 | c.813T>A (p.Leu271=) n.41T>A | |
5 | g.45645222A>C | CA359707059 | HCN1 | c.812T>G (p.Leu271Arg) n.40T>G | |
5 | g.45645222A>G | CA359707060 | HCN1 | c.812T>C (p.Leu271Pro) n.40T>C | |
5 | g.45645222A>T | CA359707061 | HCN1 | c.812T>A (p.Leu271His) n.40T>A | |
5 | g.45645223G>A | CA359707062 | HCN1 | c.811C>T (p.Leu271Phe) n.39C>T | |
5 | g.45645223G>C | CA359707063 | HCN1 | c.811C>G (p.Leu271Val) n.39C>G | |
5 | g.45645223G>T | CA359707064 | HCN1 | c.811C>A (p.Leu271Ile) n.39C>A |