UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60741597T>A | CA371296128 | CHD7 | n.678T>A c.165T>A (p.His55Gln) | |
| 8 | g.60741597T>C | CA461102992 | CHD7 | n.678T>C c.165T>C (p.His55=) | ClinVar |
| 8 | g.60741597T>G | CA371296124 | CHD7 | n.678T>G c.165T>G (p.His55Gln) | |
| 8 | g.60741598C>A | CA371296130 | CHD7 | n.679C>A c.166C>A (p.His56Asn) | |
| 8 | g.60741598C= | CA1788094565 | CHD7 | n.679C= c.166C= (p.His56=) | |
| 8 | g.60741598C>G | CA371296132 | CHD7 | n.679C>G c.166C>G (p.His56Asp) | |
| 8 | g.60741598C>T | CA371296135 | CHD7 | n.679C>T c.166C>T (p.His56Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741599A>C | CA371296137 | CHD7 | n.680A>C c.167A>C (p.His56Pro) | |
| 8 | g.60741599A>G | CA371296139 | CHD7 | n.680A>G c.167A>G (p.His56Arg) | gnomAD v4 |
| 8 | g.60741599A>T | CA371296140 | CHD7 | n.680A>T c.167A>T (p.His56Leu) | |
| 8 | g.60741600T>A | CA371296141 | CHD7 | n.681T>A c.168T>A (p.His56Gln) | |
| 8 | g.60741600T>C | CA177312439 | CHD7 | n.681T>C c.168T>C (p.His56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741600T>G | CA371296143 | CHD7 | n.681T>G c.168T>G (p.His56Gln) | |
| 8 | g.60741600T= | CA1788094569 | CHD7 | n.681T= c.168T= (p.His56=) | |
| 8 | g.60741600_60741609del | CA2695209542 | CHD7 | n.681_690del c.168_177del (p.His56GlnfsTer8) | |
| 8 | g.60741601C>A | CA371296149 | CHD7 | n.682C>A c.169C>A (p.Pro57Thr) | |
| 8 | g.60741601C>G | CA371296151 | CHD7 | n.682C>G c.169C>G (p.Pro57Ala) | |
| 8 | g.60741601C>T | CA371296153 | CHD7 | n.682C>T c.169C>T (p.Pro57Ser) | |
| 8 | g.60741602_60741603insCCC | CA2568224014 | CHD7 | n.683_684insCCC c.170_171insCCC (p.Pro57_Ser58insPro) | |
| 8 | g.60741602C>A | CA371296167 | CHD7 | n.683C>A c.170C>A (p.Pro57His) | |
| 8 | g.60741602C>G | CA371296163 | CHD7 | n.683C>G c.170C>G (p.Pro57Arg) | |
| 8 | g.60741602C>T | CA371296161 | CHD7 | n.683C>T c.170C>T (p.Pro57Leu) | |
| 8 | g.60741603T>A | CA461103003 | CHD7 | n.684T>A c.171T>A (p.Pro57=) | |
| 8 | g.60741603T>C | CA461103004 | CHD7 | n.684T>C c.171T>C (p.Pro57=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741603T>G | CA461103005 | CHD7 | n.684T>G c.171T>G (p.Pro57=) | |
| 8 | g.60741603T= | CA1788094572 | CHD7 | n.684T= c.171T= (p.Pro57=) | |
| 8 | g.60741604T>A | CA371296168 | CHD7 | n.685T>A c.172T>A (p.Ser58Thr) | |
| 8 | g.60741604T>C | CA371296169 | CHD7 | n.685T>C c.172T>C (p.Ser58Pro) | |
| 8 | g.60741604T>G | CA371296172 | CHD7 | n.685T>G c.172T>G (p.Ser58Ala) | |
| 8 | g.60741605C>A | CA371296174 | CHD7 | n.686C>A c.173C>A (p.Ser58Ter) | |
| 8 | g.60741605C>G | CA371296178 | CHD7 | n.686C>G c.173C>G (p.Ser58Ter) | |
| 8 | g.60741605C>T | CA371296180 | CHD7 | n.686C>T c.173C>T (p.Ser58Leu) | |
| 8 | g.60741606A= | CA1788094575 | CHD7 | n.687A= c.174A= (p.Ser58=) | |
| 8 | g.60741606A>C | CA461103010 | CHD7 | n.687A>C c.174A>C (p.Ser58=) | |
| 8 | g.60741606A>G | CA461103011 | CHD7 | n.687A>G c.174A>G (p.Ser58=) | dbSNP |
| 8 | g.60741606A>T | CA461103012 | CHD7 | n.687A>T c.174A>T (p.Ser58=) | |
| 8 | g.60741607A>C | CA371296183 | CHD7 | n.688A>C c.175A>C (p.Thr59Pro) | |
| 8 | g.60741607A>G | CA371296188 | CHD7 | n.688A>G c.175A>G (p.Thr59Ala) | gnomAD v4 |
| 8 | g.60741607A>T | CA371296191 | CHD7 | n.688A>T c.175A>T (p.Thr59Ser) | |
| 8 | g.60741608C>A | CA371296195 | CHD7 | n.689C>A c.176C>A (p.Thr59Asn) | |
| 8 | g.60741608C= | CA1788094583 | CHD7 | n.689C= c.176C= (p.Thr59=) | |
| 8 | g.60741608C>G | CA4759270 | CHD7 | n.689C>G c.176C>G (p.Thr59Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741608C>T | CA371296204 | CHD7 | n.689C>T c.176C>T (p.Thr59Ile) | |
| 8 | g.60741609T>A | CA461103013 | CHD7 | n.690T>A c.177T>A (p.Thr59=) | |
| 8 | g.60741609T>C | CA461103014 | CHD7 | n.690T>C c.177T>C (p.Thr59=) | |
| 8 | g.60741609T>G | CA461103015 | CHD7 | n.690T>G c.177T>G (p.Thr59=) | |
| 8 | g.60741610A>C | CA371296211 | CHD7 | n.691A>C c.178A>C (p.Asn60His) | |
| 8 | g.60741610A>G | CA371296209 | CHD7 | n.691A>G c.178A>G (p.Asn60Asp) | gnomAD v4 |
| 8 | g.60741610A>T | CA371296206 | CHD7 | n.691A>T c.178A>T (p.Asn60Tyr) | |
| 8 | g.60741611A= | CA1788094584 | CHD7 | n.692A= c.179A= (p.Asn60=) | |
| 8 | g.60741611A>C | CA371296212 | CHD7 | n.692A>C c.179A>C (p.Asn60Thr) | |
| 8 | g.60741611A>G | CA4759271 | CHD7 | n.692A>G c.179A>G (p.Asn60Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741611A>T | CA371296213 | CHD7 | n.692A>T c.179A>T (p.Asn60Ile) | |
| 8 | g.60741612T>A | CA371296215 | CHD7 | n.693T>A c.180T>A (p.Asn60Lys) | |
| 8 | g.60741612T>C | CA461103020 | CHD7 | n.693T>C c.180T>C (p.Asn60=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741612T>G | CA371296217 | CHD7 | n.693T>G c.180T>G (p.Asn60Lys) | |
| 8 | g.60741612T= | CA1788094587 | CHD7 | n.693T= c.180T= (p.Asn60=) | |
| 8 | g.60741613C>A | CA371296220 | CHD7 | n.694C>A c.181C>A (p.Gln61Lys) | |
| 8 | g.60741613C>G | CA371296221 | CHD7 | n.694C>G c.181C>G (p.Gln61Glu) | |
| 8 | g.60741613C>T | CA371296224 | CHD7 | n.694C>T c.181C>T (p.Gln61Ter) | |
| 8 | g.60741614A= | CA1788094592 | CHD7 | n.695A= c.182A= (p.Gln61=) | |
| 8 | g.60741614A>C | CA371296228 | CHD7 | n.695A>C c.182A>C (p.Gln61Pro) | |
| 8 | g.60741614A>G | CA371296231 | CHD7 | n.695A>G c.182A>G (p.Gln61Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741614A>T | CA371296234 | CHD7 | n.695A>T c.182A>T (p.Gln61Leu) | |
| 8 | g.60741615A>C | CA371296237 | CHD7 | n.696A>C c.183A>C (p.Gln61His) | |
| 8 | g.60741615A>G | CA461103024 | CHD7 | n.696A>G c.183A>G (p.Gln61=) | |
| 8 | g.60741615A>T | CA371296254 | CHD7 | n.696A>T c.183A>T (p.Gln61His) | |
| 8 | g.60741616A>C | CA371296258 | CHD7 | n.697A>C c.184A>C (p.Asn62His) | |
| 8 | g.60741616A>G | CA371296260 | CHD7 | n.697A>G c.184A>G (p.Asn62Asp) | |
| 8 | g.60741616A>T | CA371296256 | CHD7 | n.697A>T c.184A>T (p.Asn62Tyr) | |
| 8 | g.60741617A= | CA1788094597 | CHD7 | n.698A= c.185A= (p.Asn62=) | |
| 8 | g.60741617A>C | CA371296267 | CHD7 | n.698A>C c.185A>C (p.Asn62Thr) | |
| 8 | g.60741617A>G | CA371296271 | CHD7 | n.698A>G c.185A>G (p.Asn62Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741617A>T | CA371296273 | CHD7 | n.698A>T c.185A>T (p.Asn62Ile) | |
| 8 | g.60741618T>A | CA371296275 | CHD7 | n.699T>A c.186T>A (p.Asn62Lys) | |
| 8 | g.60741618T>C | CA461103032 | CHD7 | n.699T>C c.186T>C (p.Asn62=) | |
| 8 | g.60741618T>G | CA371296283 | CHD7 | n.699T>G c.186T>G (p.Asn62Lys) | |
| 8 | g.60741618_60741622delinsTCAAA | CA1788094603 | CHD7 | n.699_703delinsTCAAA c.186_190delinsTCAAA (p.Asn62=) | |
| 8 | g.60741619C>A | CA371296290 | CHD7 | n.700C>A c.187C>A (p.Gln63Lys) | |
| 8 | g.60741619C>G | CA371296288 | CHD7 | n.700C>G c.187C>G (p.Gln63Glu) | |
| 8 | g.60741619C>T | CA371296289 | CHD7 | n.700C>T c.187C>T (p.Gln63Ter) | |
| 8 | g.60741623_60741626del | CA271286 | CHD7 | n.704_707del c.191_194del (p.Thr64SerfsTer2) | ClinVar dbSNP |
| 8 | g.60741620A>C | CA371296292 | CHD7 | n.701A>C c.188A>C (p.Gln63Pro) | |
| 8 | g.60741620A>G | CA371296293 | CHD7 | n.701A>G c.188A>G (p.Gln63Arg) | |
| 8 | g.60741620A>T | CA371296294 | CHD7 | n.701A>T c.188A>T (p.Gln63Leu) | |
| 8 | g.60741621A>C | CA371296295 | CHD7 | n.702A>C c.189A>C (p.Gln63His) | |
| 8 | g.60741621A>G | CA461103036 | CHD7 | n.702A>G c.189A>G (p.Gln63=) | |
| 8 | g.60741621A>T | CA371296296 | CHD7 | n.702A>T c.189A>T (p.Gln63His) | |
| 8 | g.60741622A= | CA1788094610 | CHD7 | n.703A= c.190A= (p.Thr64=) | |
| 8 | g.60741622A>C | CA371296298 | CHD7 | n.703A>C c.190A>C (p.Thr64Pro) | |
| 8 | g.60741622A>G | CA371296305 | CHD7 | n.703A>G c.190A>G (p.Thr64Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741622A>T | CA371296306 | CHD7 | n.703A>T c.190A>T (p.Thr64Ser) | |
| 8 | g.60741623C>A | CA371296307 | CHD7 | n.704C>A c.191C>A (p.Thr64Lys) | |
| 8 | g.60741623C>G | CA371296308 | CHD7 | n.704C>G c.191C>G (p.Thr64Arg) | |
| 8 | g.60741623C>T | CA371296311 | CHD7 | n.704C>T c.191C>T (p.Thr64Ile) | |
| 8 | g.60741624A>C | CA461103043 | CHD7 | n.705A>C c.192A>C (p.Thr64=) | |
| 8 | g.60741624A>G | CA461103040 | CHD7 | n.705A>G c.192A>G (p.Thr64=) | |
| 8 | g.60741624A>T | CA461103045 | CHD7 | n.705A>T c.192A>T (p.Thr64=) | |
| 8 | g.60741625A>C | CA371296314 | CHD7 | n.706A>C c.193A>C (p.Lys65Gln) | |
| 8 | g.60741625A>G | CA371296317 | CHD7 | n.706A>G c.193A>G (p.Lys65Glu) | gnomAD v4 |
| 8 | g.60741625A>T | CA371296319 | CHD7 | n.706A>T c.193A>T (p.Lys65Ter) | |
| 8 | g.60741626A>C | CA371296323 | CHD7 | n.707A>C c.194A>C (p.Lys65Thr) | |
| 8 | g.60741626A>G | CA371296327 | CHD7 | n.707A>G c.194A>G (p.Lys65Arg) | gnomAD v4 |
| 8 | g.60741626A>T | CA371296331 | CHD7 | n.707A>T c.194A>T (p.Lys65Met) | |
| 8 | g.60741627G>A | CA461103056 | CHD7 | n.708G>A c.195G>A (p.Lys65=) | |
| 8 | g.60741627G>C | CA371296332 | CHD7 | n.708G>C c.195G>C (p.Lys65Asn) | |
| 8 | g.60741627G>T | CA371296333 | CHD7 | n.708G>T c.195G>T (p.Lys65Asn) | |
| 8 | g.60741628C>A | CA371296335 | CHD7 | n.709C>A c.196C>A (p.Leu66Met) | |
| 8 | g.60741628C>G | CA371296334 | CHD7 | n.709C>G c.196C>G (p.Leu66Val) | gnomAD v4 |
| 8 | g.60741628C>T | CA461103058 | CHD7 | n.709C>T c.196C>T (p.Leu66=) | gnomAD v4 |
| 8 | g.60741629T>A | CA371296339 | CHD7 | n.710T>A c.197T>A (p.Leu66Gln) | |
| 8 | g.60741629T>C | CA371296342 | CHD7 | n.710T>C c.197T>C (p.Leu66Pro) | |
| 8 | g.60741629T>G | CA371296344 | CHD7 | n.710T>G c.197T>G (p.Leu66Arg) | |
| 8 | g.60741630G>A | CA461103066 | CHD7 | n.711G>A c.198G>A (p.Leu66=) | |
| 8 | g.60741630G>C | CA461103064 | CHD7 | n.711G>C c.198G>C (p.Leu66=) | |
| 8 | g.60741630G>T | CA461103065 | CHD7 | n.711G>T c.198G>T (p.Leu66=) | |
| 8 | g.60741631A>C | CA371296348 | CHD7 | n.712A>C c.199A>C (p.Thr67Pro) | |
| 8 | g.60741631A>G | CA371296352 | CHD7 | n.712A>G c.199A>G (p.Thr67Ala) | |
| 8 | g.60741631A>T | CA371296353 | CHD7 | n.712A>T c.199A>T (p.Thr67Ser) | |
| 8 | g.60741632C>A | CA371296354 | CHD7 | n.713C>A c.200C>A (p.Thr67Lys) | |
| 8 | g.60741632C>G | CA371296355 | CHD7 | n.713C>G c.200C>G (p.Thr67Arg) | |
| 8 | g.60741632C>T | CA371296356 | CHD7 | n.713C>T c.200C>T (p.Thr67Ile) | gnomAD v4 |
| 8 | g.60741633A= | CA1788094614 | CHD7 | n.714A= c.201A= (p.Thr67=) | |
| 8 | g.60741633A>C | CA177312457 | CHD7 | n.714A>C c.201A>C (p.Thr67=) | ClinVar dbSNP |
| 8 | g.60741633A>G | CA461103068 | CHD7 | n.714A>G c.201A>G (p.Thr67=) | |
| 8 | g.60741633A>T | CA461103069 | CHD7 | n.714A>T c.201A>T (p.Thr67=) | |
| 8 | g.60741634C>A | CA371296359 | CHD7 | n.715C>A c.202C>A (p.His68Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741634C= | CA1788094619 | CHD7 | n.715C= c.202C= (p.His68=) | |
| 8 | g.60741634C>G | CA371296361 | CHD7 | n.715C>G c.202C>G (p.His68Asp) | |
| 8 | g.60741634C>T | CA10631362 | CHD7 | n.715C>T c.202C>T (p.His68Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741635A= | CA1788094626 | CHD7 | n.716A= c.203A= (p.His68=) | |
| 8 | g.60741635A>C | CA371296370 | CHD7 | n.716A>C c.203A>C (p.His68Pro) | |
| 8 | g.60741635A>G | CA4759272 | CHD7 | n.716A>G c.203A>G (p.His68Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741635A>T | CA371296367 | CHD7 | n.716A>T c.203A>T (p.His68Leu) | |
| 8 | g.60741635_60741636delinsAT | CA1788094630 | CHD7 | n.716_717delinsAT c.203_204delinsAT (p.His68=) | |
| 8 | g.60741636T>A | CA371296378 | CHD7 | n.717T>A c.204T>A (p.His68Gln) | |
| 8 | g.60741636T>C | CA4759273 | CHD7 | n.717T>C c.204T>C (p.His68=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741636T>G | CA371296375 | CHD7 | n.717T>G c.204T>G (p.His68Gln) | |
| 8 | g.60741636T= | CA1788094637 | CHD7 | n.717T= c.204T= (p.His68=) | |
| 8 | g.60741639del | CA16618649 | CHD7 | n.720del c.207del (p.Phe69LeufsTer14) | ClinVar dbSNP |
| 8 | g.60741637T>A | CA371296381 | CHD7 | n.718T>A c.205T>A (p.Phe69Ile) | |
| 8 | g.60741637T>C | CA371296386 | CHD7 | n.718T>C c.205T>C (p.Phe69Leu) | |
| 8 | g.60741637T>G | CA371296389 | CHD7 | n.718T>G c.205T>G (p.Phe69Val) | |
| 8 | g.60741638T>A | CA371296392 | CHD7 | n.719T>A c.206T>A (p.Phe69Tyr) | |
| 8 | g.60741638T>C | CA371296395 | CHD7 | n.719T>C c.206T>C (p.Phe69Ser) | |
| 8 | g.60741638T>G | CA371296396 | CHD7 | n.719T>G c.206T>G (p.Phe69Cys) | |
| 8 | g.60741639T>A | CA371296397 | CHD7 | n.720T>A c.207T>A (p.Phe69Leu) | |
| 8 | g.60741639T>C | CA461103083 | CHD7 | n.720T>C c.207T>C (p.Phe69=) | |
| 8 | g.60741639T>G | CA371296398 | CHD7 | n.720T>G c.207T>G (p.Phe69Leu) | ClinVar dbSNP |
| 8 | g.60741639T= | CA1788094641 | CHD7 | n.720T= c.207T= (p.Phe69=) | |
| 8 | g.60741639_60741641delinsGG | CA2695209544 | CHD7 | n.720_722delinsGG c.207_209delinsGG (p.Phe69LeufsTer14) | |
| 8 | g.60741640G>A | CA371296401 | CHD7 | n.721G>A c.208G>A (p.Asp70Asn) | gnomAD v4 |
| 8 | g.60741640G>C | CA4759274 | CHD7 | n.721G>C c.208G>C (p.Asp70His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741640G= | CA1788094644 | CHD7 | n.721G= c.208G= (p.Asp70=) | |
| 8 | g.60741640G>T | CA371296408 | CHD7 | n.721G>T c.208G>T (p.Asp70Tyr) | |
| 8 | g.60741641A>C | CA371296417 | CHD7 | n.722A>C c.209A>C (p.Asp70Ala) | |
| 8 | g.60741641A>G | CA371296412 | CHD7 | n.722A>G c.209A>G (p.Asp70Gly) | ClinVar gnomAD v4 |
| 8 | g.60741641A>T | CA371296410 | CHD7 | n.722A>T c.209A>T (p.Asp70Val) | |
| 8 | g.60741642T>A | CA371296420 | CHD7 | n.723T>A c.210T>A (p.Asp70Glu) | |
| 8 | g.60741642T>C | CA461103093 | CHD7 | n.723T>C c.210T>C (p.Asp70=) | |
| 8 | g.60741642T>G | CA371296424 | CHD7 | n.723T>G c.210T>G (p.Asp70Glu) | |
| 8 | g.60741643C>A | CA371296427 | CHD7 | n.724C>A c.211C>A (p.His71Asn) | gnomAD v4 |
| 8 | g.60741643C>G | CA371296428 | CHD7 | n.724C>G c.211C>G (p.His71Asp) | |
| 8 | g.60741643C>T | CA371296433 | CHD7 | n.724C>T c.211C>T (p.His71Tyr) | |
| 8 | g.60741644A>C | CA371296436 | CHD7 | n.725A>C c.212A>C (p.His71Pro) | |
| 8 | g.60741644A>G | CA371296438 | CHD7 | n.725A>G c.212A>G (p.His71Arg) | |
| 8 | g.60741644A>T | CA371296442 | CHD7 | n.725A>T c.212A>T (p.His71Leu) | |
| 8 | g.60741645C>A | CA371296446 | CHD7 | n.726C>A c.213C>A (p.His71Gln) | |
| 8 | g.60741645C>G | CA371296449 | CHD7 | n.726C>G c.213C>G (p.His71Gln) | |
| 8 | g.60741645C>T | CA461103103 | CHD7 | n.726C>T c.213C>T (p.His71=) | gnomAD v4 |
| 8 | g.60741646T>A | CA371296456 | CHD7 | n.727T>A c.214T>A (p.Tyr72Asn) | |
| 8 | g.60741646T>C | CA371296459 | CHD7 | n.727T>C c.214T>C (p.Tyr72His) | |
| 8 | g.60741646T>G | CA371296461 | CHD7 | n.727T>G c.214T>G (p.Tyr72Asp) | |
| 8 | g.60741649_60741657del | CA2780519510 | CHD7 | n.730_738del c.217_225del (p.Asn73_Tyr75del) | |
| 8 | g.60741647A= | CA1788094649 | CHD7 | n.728A= c.215A= (p.Tyr72=) | |
| 8 | g.60741647A>C | CA371296467 | CHD7 | n.728A>C c.215A>C (p.Tyr72Ser) | |
| 8 | g.60741647A>G | CA4759275 | CHD7 | n.728A>G c.215A>G (p.Tyr72Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60741647A>T | CA371296463 | CHD7 | n.728A>T c.215A>T (p.Tyr72Phe) | |
| 8 | g.60741648T>A | CA371296472 | CHD7 | n.729T>A c.216T>A (p.Tyr72Ter) | |
| 8 | g.60741648T>C | CA148853 | CHD7 | n.729T>C c.216T>C (p.Tyr72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741648T>G | CA371296477 | CHD7 | n.729T>G c.216T>G (p.Tyr72Ter) | |
| 8 | g.60741648T= | CA1788094654 | CHD7 | n.729T= c.216T= (p.Tyr72=) | |
| 8 | g.60741649A>C | CA371296485 | CHD7 | n.730A>C c.217A>C (p.Asn73His) | |
| 8 | g.60741649A>G | CA371296487 | CHD7 | n.730A>G c.217A>G (p.Asn73Asp) | |
| 8 | g.60741649A>T | CA371296494 | CHD7 | n.730A>T c.217A>T (p.Asn73Tyr) | gnomAD v4 |
| 8 | g.60741650A>C | CA371296496 | CHD7 | n.731A>C c.218A>C (p.Asn73Thr) | |
| 8 | g.60741650A>G | CA371296497 | CHD7 | n.731A>G c.218A>G (p.Asn73Ser) | |
| 8 | g.60741650A>T | CA371296500 | CHD7 | n.731A>T c.218A>T (p.Asn73Ile) | |
| 8 | g.60741651T>A | CA371296505 | CHD7 | n.732T>A c.219T>A (p.Asn73Lys) | |
| 8 | g.60741651T>C | CA461103125 | CHD7 | n.732T>C c.219T>C (p.Asn73=) | |
| 8 | g.60741651T>G | CA371296508 | CHD7 | n.732T>G c.219T>G (p.Asn73Lys) | gnomAD v4 |
| 8 | g.60741651dup | CA2695209545 | CHD7 | n.732dup c.219dup (p.Gln74SerfsTer3) | |
| 8 | g.60741652C>A | CA371296521 | CHD7 | n.733C>A c.220C>A (p.Gln74Lys) | |
| 8 | g.60741652C>G | CA371296519 | CHD7 | n.733C>G c.220C>G (p.Gln74Glu) | |
| 8 | g.60741652C>T | CA371296514 | CHD7 | n.733C>T c.220C>T (p.Gln74Ter) | |
| 8 | g.60741653A= | CA1788094662 | CHD7 | n.734A= c.221A= (p.Gln74=) | |
| 8 | g.60741653A>C | CA371296523 | CHD7 | n.734A>C c.221A>C (p.Gln74Pro) | |
| 8 | g.60741653A>G | CA4759276 | CHD7 | n.734A>G c.221A>G (p.Gln74Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741653A>T | CA371296529 | CHD7 | n.734A>T c.221A>T (p.Gln74Leu) | |
| 8 | g.60741654del | CA2695209546 | CHD7 | n.735del c.222del (p.Gln74HisfsTer9) | |
| 8 | g.60741654G>A | CA461103135 | CHD7 | n.735G>A c.222G>A (p.Gln74=) | gnomAD v4 |
| 8 | g.60741654G>C | CA371296533 | CHD7 | n.735G>C c.222G>C (p.Gln74His) | |
| 8 | g.60741654G>T | CA371296536 | CHD7 | n.735G>T c.222G>T (p.Gln74His) | |
| 8 | g.60741655T>A | CA371296539 | CHD7 | n.736T>A c.223T>A (p.Tyr75Asn) | |
| 8 | g.60741655T>C | CA371296543 | CHD7 | n.736T>C c.223T>C (p.Tyr75His) | COSMIC |
| 8 | g.60741655T>G | CA371296549 | CHD7 | n.736T>G c.223T>G (p.Tyr75Asp) | |
| 8 | g.60741656A>C | CA371296552 | CHD7 | n.737A>C c.224A>C (p.Tyr75Ser) | |
| 8 | g.60741656A>G | CA371296557 | CHD7 | n.737A>G c.224A>G (p.Tyr75Cys) | |
| 8 | g.60741656A>T | CA371296560 | CHD7 | n.737A>T c.224A>T (p.Tyr75Phe) | |
| 8 | g.60741657T>A | CA371296561 | CHD7 | n.738T>A c.225T>A (p.Tyr75Ter) | |
| 8 | g.60741657T>C | CA461103144 | CHD7 | n.738T>C c.225T>C (p.Tyr75=) | |
| 8 | g.60741657T>G | CA371296562 | CHD7 | n.738T>G c.225T>G (p.Tyr75Ter) | |
| 8 | g.60741658G>A | CA371296566 | CHD7 | n.739G>A c.226G>A (p.Glu76Lys) | |
| 8 | g.60741658G>C | CA371296568 | CHD7 | n.739G>C c.226G>C (p.Glu76Gln) | |
| 8 | g.60741658G>T | CA371296563 | CHD7 | n.739G>T c.226G>T (p.Glu76Ter) | |
| 8 | g.60741659A= | CA1788094667 | CHD7 | n.740A= c.227A= (p.Glu76=) | |
| 8 | g.60741659A>C | CA177312484 | CHD7 | n.740A>C c.227A>C (p.Glu76Ala) | dbSNP gnomAD v4 |
| 8 | g.60741659A>G | CA371296571 | CHD7 | n.740A>G c.227A>G (p.Glu76Gly) | |
| 8 | g.60741659A>T | CA371296575 | CHD7 | n.740A>T c.227A>T (p.Glu76Val) | |
| 8 | g.60741660A>C | CA371296578 | CHD7 | n.741A>C c.228A>C (p.Glu76Asp) | |
| 8 | g.60741660A>G | CA461103151 | CHD7 | n.741A>G c.228A>G (p.Glu76=) | |
| 8 | g.60741660A>T | CA371296580 | CHD7 | n.741A>T c.228A>T (p.Glu76Asp) | |
| 8 | g.60741661C>A | CA371296585 | CHD7 | n.742C>A c.229C>A (p.Gln77Lys) | |
| 8 | g.60741661C>G | CA371296587 | CHD7 | n.742C>G c.229C>G (p.Gln77Glu) | |
| 8 | g.60741661C>T | CA371296591 | CHD7 | n.742C>T c.229C>T (p.Gln77Ter) | |
| 8 | g.60741662A>C | CA371296594 | CHD7 | n.743A>C c.230A>C (p.Gln77Pro) | |
| 8 | g.60741662A>G | CA371296597 | CHD7 | n.743A>G c.230A>G (p.Gln77Arg) | |
| 8 | g.60741662A>T | CA371296600 | CHD7 | n.743A>T c.230A>T (p.Gln77Leu) | |
| 8 | g.60741663A>C | CA371296609 | CHD7 | n.744A>C c.231A>C (p.Gln77His) | |
| 8 | g.60741663A>G | CA461103157 | CHD7 | n.744A>G c.231A>G (p.Gln77=) | |
| 8 | g.60741663A>T | CA371296612 | CHD7 | n.744A>T c.231A>T (p.Gln77His) | |
| 8 | g.60741664C>A | CA371296622 | CHD7 | n.745C>A c.232C>A (p.Gln78Lys) | |
| 8 | g.60741664C>G | CA371296619 | CHD7 | n.745C>G c.232C>G (p.Gln78Glu) | |
| 8 | g.60741664C>T | CA371296616 | CHD7 | n.745C>T c.232C>T (p.Gln78Ter) | ClinVar dbSNP |
| 8 | g.60741665A>C | CA371296625 | CHD7 | n.746A>C c.233A>C (p.Gln78Pro) | |
| 8 | g.60741665A>G | CA371296629 | CHD7 | n.746A>G c.233A>G (p.Gln78Arg) | |
| 8 | g.60741665A>T | CA371296632 | CHD7 | n.746A>T c.233A>T (p.Gln78Leu) | |
| 8 | g.60741666A= | CA1788094676 | CHD7 | n.747A= c.234A= (p.Gln78=) | |
| 8 | g.60741666A>C | CA371296635 | CHD7 | n.747A>C c.234A>C (p.Gln78His) | |
| 8 | g.60741666A>G | CA4759277 | CHD7 | n.747A>G c.234A>G (p.Gln78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741666A>T | CA371296640 | CHD7 | n.747A>T c.234A>T (p.Gln78His) | |
| 8 | g.60741667A>C | CA371296644 | CHD7 | n.748A>C c.235A>C (p.Lys79Gln) | |
| 8 | g.60741667A>G | CA371296646 | CHD7 | n.748A>G c.235A>G (p.Lys79Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60741667A>T | CA371296653 | CHD7 | n.748A>T c.235A>T (p.Lys79Ter) | |
| 8 | g.60741668A= | CA1788094680 | CHD7 | n.749A= c.236A= (p.Lys79=) | |
| 8 | g.60741668A>C | CA371296657 | CHD7 | n.749A>C c.236A>C (p.Lys79Thr) | |
| 8 | g.60741668A>G | CA16618650 | CHD7 | n.749A>G c.236A>G (p.Lys79Arg) | ClinVar dbSNP |
| 8 | g.60741668A>T | CA371296659 | CHD7 | n.749A>T c.236A>T (p.Lys79Met) | |
| 8 | g.60741669G>A | CA461103169 | CHD7 | n.750G>A c.237G>A (p.Lys79=) | |
| 8 | g.60741669G>C | CA371296661 | CHD7 | n.750G>C c.237G>C (p.Lys79Asn) | |
| 8 | g.60741669G>T | CA371296663 | CHD7 | n.750G>T c.237G>T (p.Lys79Asn) | |
| 8 | g.60741670A= | CA1788094683 | CHD7 | n.751A= c.238A= (p.Met80=) | |
| 8 | g.60741670A>C | CA371296667 | CHD7 | n.751A>C c.238A>C (p.Met80Leu) | |
| 8 | g.60741670A>G | CA371296676 | CHD7 | n.751A>G c.238A>G (p.Met80Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741670A>T | CA4759278 | CHD7 | n.751A>T c.238A>T (p.Met80Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741671T>A | CA371296678 | CHD7 | n.752T>A c.239T>A (p.Met80Lys) | |
| 8 | g.60741671T>C | CA371296680 | CHD7 | n.752T>C c.239T>C (p.Met80Thr) | gnomAD v4 |
| 8 | g.60741671T>G | CA371296683 | CHD7 | n.752T>G c.239T>G (p.Met80Arg) | ClinVar |
| 8 | g.60741672G>A | CA241702 | CHD7 | n.753G>A c.240G>A (p.Met80Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741672G>C | CA371296691 | CHD7 | n.753G>C c.240G>C (p.Met80Ile) | |
| 8 | g.60741672G= | CA1788094692 | CHD7 | n.753G= c.240G= (p.Met80=) | |
| 8 | g.60741672G>T | CA371296696 | CHD7 | n.753G>T c.240G>T (p.Met80Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741673C>A | CA371296699 | CHD7 | n.754C>A c.241C>A (p.His81Asn) | |
| 8 | g.60741673C>G | CA371296701 | CHD7 | n.754C>G c.241C>G (p.His81Asp) | |
| 8 | g.60741673C>T | CA371296705 | CHD7 | n.754C>T c.241C>T (p.His81Tyr) | gnomAD v4 |
| 8 | g.60741674A= | CA1788094697 | CHD7 | n.755A= c.242A= (p.His81=) | |
| 8 | g.60741674A>C | CA371296710 | CHD7 | n.755A>C c.242A>C (p.His81Pro) | |
| 8 | g.60741674A>G | CA4759279 | CHD7 | n.755A>G c.242A>G (p.His81Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741674A>T | CA371296712 | CHD7 | n.755A>T c.242A>T (p.His81Leu) | |
| 8 | g.60741675T>A | CA371296719 | CHD7 | n.756T>A c.243T>A (p.His81Gln) | |
| 8 | g.60741675T>C | CA461103184 | CHD7 | n.756T>C c.243T>C (p.His81=) | gnomAD v4 |
| 8 | g.60741675T>G | CA371296721 | CHD7 | n.756T>G c.243T>G (p.His81Gln) | gnomAD v4 |
| 8 | g.60741676C>A | CA371296725 | CHD7 | n.757C>A c.244C>A (p.Leu82Met) | |
| 8 | g.60741676C= | CA1788094702 | CHD7 | n.757C= c.244C= (p.Leu82=) | |
| 8 | g.60741676C>G | CA371296727 | CHD7 | n.757C>G c.244C>G (p.Leu82Val) | gnomAD v4 |
| 8 | g.60741676C>T | CA461103187 | CHD7 | n.757C>T c.244C>T (p.Leu82=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60741677T>A | CA371296732 | CHD7 | n.758T>A c.245T>A (p.Leu82Gln) | |
| 8 | g.60741677T>C | CA371296735 | CHD7 | n.758T>C c.245T>C (p.Leu82Pro) | gnomAD v4 |
| 8 | g.60741677T>G | CA371296738 | CHD7 | n.758T>G c.245T>G (p.Leu82Arg) | |
| 8 | g.60741679_60741681del | CA2687395193 | CHD7 | n.760_762del c.247_249del (p.Met83del) | gnomAD v4 |
| 8 | g.60741678G>A | CA461103194 | CHD7 | n.759G>A c.246G>A (p.Leu82=) | gnomAD v4 |
| 8 | g.60741678G>C | CA461103192 | CHD7 | n.759G>C c.246G>C (p.Leu82=) | |
| 8 | g.60741678G>T | CA461103191 | CHD7 | n.759G>T c.246G>T (p.Leu82=) | |
| 8 | g.60741679A= | CA1788094707 | CHD7 | n.760A= c.247A= (p.Met83=) | |
| 8 | g.60741679A>C | CA371296744 | CHD7 | n.760A>C c.247A>C (p.Met83Leu) | gnomAD v4 |
| 8 | g.60741679A>G | CA371296746 | CHD7 | n.760A>G c.247A>G (p.Met83Val) | ClinVar dbSNP |
| 8 | g.60741679A>T | CA371296750 | CHD7 | n.760A>T c.247A>T (p.Met83Leu) | |
| 8 | g.60741680T>A | CA371296755 | CHD7 | n.761T>A c.248T>A (p.Met83Lys) | |
| 8 | g.60741680T>C | CA371296757 | CHD7 | n.761T>C c.248T>C (p.Met83Thr) | |
| 8 | g.60741680T>G | CA371296760 | CHD7 | n.761T>G c.248T>G (p.Met83Arg) | |
| 8 | g.60741681G>A | CA371296766 | CHD7 | n.762G>A c.249G>A (p.Met83Ile) | gnomAD v4 |
| 8 | g.60741681G>C | CA371296767 | CHD7 | n.762G>C c.249G>C (p.Met83Ile) | |
| 8 | g.60741681G>T | CA371296770 | CHD7 | n.762G>T c.249G>T (p.Met83Ile) | |
| 8 | g.60741682G>A | CA371296776 | CHD7 | n.763G>A c.250G>A (p.Asp84Asn) | |
| 8 | g.60741682G>C | CA371296774 | CHD7 | n.763G>C c.250G>C (p.Asp84His) | gnomAD v4 |
| 8 | g.60741682G>T | CA371296773 | CHD7 | n.763G>T c.250G>T (p.Asp84Tyr) | |
| 8 | g.60741683A>C | CA371296781 | CHD7 | n.764A>C c.251A>C (p.Asp84Ala) | |
| 8 | g.60741683A>G | CA371296785 | CHD7 | n.764A>G c.251A>G (p.Asp84Gly) | |
| 8 | g.60741683A>T | CA371296783 | CHD7 | n.764A>T c.251A>T (p.Asp84Val) | |
| 8 | g.60741684T>A | CA371296786 | CHD7 | n.765T>A c.252T>A (p.Asp84Glu) | |
| 8 | g.60741684T>C | CA461103204 | CHD7 | n.765T>C c.252T>C (p.Asp84=) | |
| 8 | g.60741684T>G | CA371296789 | CHD7 | n.765T>G c.252T>G (p.Asp84Glu) | |
| 8 | g.60741685C>A | CA371296793 | CHD7 | n.766C>A c.253C>A (p.Gln85Lys) | |
| 8 | g.60741685C>G | CA371296797 | CHD7 | n.766C>G c.253C>G (p.Gln85Glu) | |
| 8 | g.60741685C>T | CA371296796 | CHD7 | n.766C>T c.253C>T (p.Gln85Ter) | |
| 8 | g.60741686A>C | CA371296800 | CHD7 | n.767A>C c.254A>C (p.Gln85Pro) | |
| 8 | g.60741686A>G | CA371296803 | CHD7 | n.767A>G c.254A>G (p.Gln85Arg) | |
| 8 | g.60741686A>T | CA371296805 | CHD7 | n.767A>T c.254A>T (p.Gln85Leu) | gnomAD v4 |
| 8 | g.60741687G>A | CA461103217 | CHD7 | n.768G>A c.255G>A (p.Gln85=) | |
| 8 | g.60741687G>C | CA371296810 | CHD7 | n.768G>C c.255G>C (p.Gln85His) | |
| 8 | g.60741687G= | CA1788094713 | CHD7 | n.768G= c.255G= (p.Gln85=) | |
| 8 | g.60741687G>T | CA371296813 | CHD7 | n.768G>T c.255G>T (p.Gln85His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741688C>A | CA371296816 | CHD7 | n.769C>A c.256C>A (p.Pro86Thr) | |
| 8 | g.60741688C>G | CA371296818 | CHD7 | n.769C>G c.256C>G (p.Pro86Ala) | |
| 8 | g.60741688C>T | CA371296821 | CHD7 | n.769C>T c.256C>T (p.Pro86Ser) | |
| 8 | g.60741689del | CA2695209549 | CHD7 | n.770del c.257del (p.Pro86ArgfsTer4) | |
| 8 | g.60741689C>A | CA371296825 | CHD7 | n.770C>A c.257C>A (p.Pro86Gln) | ClinVar dbSNP |
| 8 | g.60741689C= | CA1788094717 | CHD7 | n.770C= c.257C= (p.Pro86=) | |
| 8 | g.60741689C>G | CA371296827 | CHD7 | n.770C>G c.257C>G (p.Pro86Arg) | ClinVar dbSNP |
| 8 | g.60741689C>T | CA371296829 | CHD7 | n.770C>T c.257C>T (p.Pro86Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.60741690G>A | CA4759280 | CHD7 | n.771G>A c.258G>A (p.Pro86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60741690G>C | CA461103224 | CHD7 | n.771G>C c.258G>C (p.Pro86=) | |
| 8 | g.60741690G= | CA1788094728 | CHD7 | n.771G= c.258G= (p.Pro86=) | |
| 8 | g.60741690G>T | CA461103226 | CHD7 | n.771G>T c.258G>T (p.Pro86=) | dbSNP gnomAD v4 |
| 8 | g.60741691A>C | CA371296839 | CHD7 | n.772A>C c.259A>C (p.Asn87His) | |
| 8 | g.60741691A>G | CA371296835 | CHD7 | n.772A>G c.259A>G (p.Asn87Asp) | |
| 8 | g.60741691A>T | CA371296837 | CHD7 | n.772A>T c.259A>T (p.Asn87Tyr) | gnomAD v4 |
| 8 | g.60741692A>C | CA371296844 | CHD7 | n.773A>C c.260A>C (p.Asn87Thr) | |
| 8 | g.60741692A>G | CA371296846 | CHD7 | n.773A>G c.260A>G (p.Asn87Ser) | |
| 8 | g.60741692A>T | CA371296849 | CHD7 | n.773A>T c.260A>T (p.Asn87Ile) | |
| 8 | g.60741693C>A | CA371296852 | CHD7 | n.774C>A c.261C>A (p.Asn87Lys) | |
| 8 | g.60741693C= | CA1788094732 | CHD7 | n.774C= c.261C= (p.Asn87=) | |
| 8 | g.60741693C>G | CA371296856 | CHD7 | n.774C>G c.261C>G (p.Asn87Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741693C>T | CA461103435 | CHD7 | n.774C>T c.261C>T (p.Asn87=) | |
| 8 | g.60741694A= | CA1788094733 | CHD7 | n.775A= c.262A= (p.Arg88=) | |
| 8 | g.60741694A>C | CA461103438 | CHD7 | n.775A>C c.262A>C (p.Arg88=) | |
| 8 | g.60741694A>G | CA177312497 | CHD7 | n.775A>G c.262A>G (p.Arg88Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60741694A>T | CA371296860 | CHD7 | n.775A>T c.262A>T (p.Arg88Ter) | |
| 8 | g.60741694dup | CA2687395194 | CHD7 | n.775dup c.262dup (p.Arg88LysfsTer?) | gnomAD v4 |
| 8 | g.60741695G>A | CA371296861 | CHD7 | n.776G>A c.263G>A (p.Arg88Lys) | |
| 8 | g.60741695G>C | CA371296863 | CHD7 | n.776G>C c.263G>C (p.Arg88Thr) | |
| 8 | g.60741695G= | CA1788094737 | CHD7 | n.776G= c.263G= (p.Arg88=) | |
| 8 | g.60741695G>T | CA371296865 | CHD7 | n.776G>T c.263G>T (p.Arg88Ile) | |
| 8 | g.60741695_60741696insC | CA177312498 | CHD7 | n.776_777insC c.263_264insC (p.Arg88SerfsTer?) | dbSNP |
| 8 | g.60741696A>C | CA371296870 | CHD7 | n.777A>C c.264A>C (p.Arg88Ser) | |
| 8 | g.60741696A>G | CA461103442 | CHD7 | n.777A>G c.264A>G (p.Arg88=) | |
| 8 | g.60741696A>T | CA371296868 | CHD7 | n.777A>T c.264A>T (p.Arg88Ser) | |
| 8 | g.60741697A>C | CA371296874 | CHD7 | n.778A>C c.265A>C (p.Met89Leu) | |
| 8 | g.60741697A>G | CA371296875 | CHD7 | n.778A>G c.265A>G (p.Met89Val) | gnomAD v4 |
| 8 | g.60741697A>T | CA371296877 | CHD7 | n.778A>T c.265A>T (p.Met89Leu) |