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.60856477G>A | CA461105325 | CHD7 | n.373G>A c.*256G>A (n.*256G>A) c.7197G>A (p.Gln2399=) c.1717-5752G>A (n.1717-5752G>A) n.378G>A c.7287G>A (p.Gln2429=) c.7284G>A (p.Gln2428=) c.5274G>A (p.Gln1758=) c.4824G>A (p.Gln1608=) c.4032G>A (p.Gln1344=) c.7194G>A (p.Gln2398=) | |
| 8 | g.60856477G>C | CA371299876 | CHD7 | n.373G>C c.*256G>C (n.*256G>C) c.7197G>C (p.Gln2399His) c.1717-5752G>C (n.1717-5752G>C) n.378G>C c.7287G>C (p.Gln2429His) c.7284G>C (p.Gln2428His) c.5274G>C (p.Gln1758His) c.4824G>C (p.Gln1608His) c.4032G>C (p.Gln1344His) c.7194G>C (p.Gln2398His) | |
| 8 | g.60856477G>T | CA371299877 | CHD7 | n.373G>T c.*256G>T (n.*256G>T) c.7197G>T (p.Gln2399His) c.1717-5752G>T (n.1717-5752G>T) n.378G>T c.7287G>T (p.Gln2429His) c.7284G>T (p.Gln2428His) c.5274G>T (p.Gln1758His) c.4824G>T (p.Gln1608His) c.4032G>T (p.Gln1344His) c.7194G>T (p.Gln2398His) | |
| 8 | g.60856478C>A | CA461105329 | CHD7 | n.374C>A c.*257C>A (n.*257C>A) c.7198C>A (p.Arg2400=) c.1717-5751C>A (n.1717-5751C>A) n.379C>A c.7288C>A (p.Arg2430=) c.7285C>A (p.Arg2429=) c.5275C>A (p.Arg1759=) c.4825C>A (p.Arg1609=) c.4033C>A (p.Arg1345=) c.7195C>A (p.Arg2399=) | |
| 8 | g.60856478C= | CA1788111928 | CHD7 | n.374C= c.*257C= (n.*257C=) c.7198C= (p.Arg2400=) c.1717-5751C= (n.1717-5751C=) n.379C= c.7288C= (p.Arg2430=) c.7285C= (p.Arg2429=) c.5275C= (p.Arg1759=) c.4825C= (p.Arg1609=) c.4033C= (p.Arg1345=) c.7195C= (p.Arg2399=) | |
| 8 | g.60856478C>G | CA371299878 | CHD7 | n.374C>G c.*257C>G (n.*257C>G) c.7198C>G (p.Arg2400Gly) c.1717-5751C>G (n.1717-5751C>G) n.379C>G c.7288C>G (p.Arg2430Gly) c.7285C>G (p.Arg2429Gly) c.5275C>G (p.Arg1759Gly) c.4825C>G (p.Arg1609Gly) c.4033C>G (p.Arg1345Gly) c.7195C>G (p.Arg2399Gly) | |
| 8 | g.60856478C>T | CA4760774 | CHD7 | n.374C>T c.*257C>T (n.*257C>T) c.7198C>T (p.Arg2400Trp) c.1717-5751C>T (n.1717-5751C>T) n.379C>T c.7288C>T (p.Arg2430Trp) c.7285C>T (p.Arg2429Trp) c.5275C>T (p.Arg1759Trp) c.4825C>T (p.Arg1609Trp) c.4033C>T (p.Arg1345Trp) c.7195C>T (p.Arg2399Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60856478_60856484delinsCGGAGGA | CA1788111926 | CHD7 | n.374_380delinsCGGAGGA c.*257_*263delinsCGGAGGA (n.*257_*263delinsCGGAGGA) c.7198_7204delinsCGGAGGA (p.Arg2400=) c.1717-5751_1717-5745delinsCGGAGGA (n.1717-5751_1717-5745delinsCGGAGGA) n.379_385delinsCGGAGGA c.7288_7294delinsCGGAGGA (p.Arg2430=) c.7285_7291delinsCGGAGGA (p.Arg2429=) c.5275_5281delinsCGGAGGA (p.Arg1759=) c.4825_4831delinsCGGAGGA (p.Arg1609=) c.4033_4039delinsCGGAGGA (p.Arg1345=) c.7195_7201delinsCGGAGGA (p.Arg2399=) | |
| 8 | g.60856479G>A | CA4760775 | CHD7 | n.375G>A c.*258G>A (n.*258G>A) c.7199G>A (p.Arg2400Gln) c.1717-5750G>A (n.1717-5750G>A) n.380G>A c.7289G>A (p.Arg2430Gln) c.7286G>A (p.Arg2429Gln) c.5276G>A (p.Arg1759Gln) c.4826G>A (p.Arg1609Gln) c.4034G>A (p.Arg1345Gln) c.7196G>A (p.Arg2399Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60856479G>C | CA371299896 | CHD7 | n.375G>C c.*258G>C (n.*258G>C) c.7199G>C (p.Arg2400Pro) c.1717-5750G>C (n.1717-5750G>C) n.380G>C c.7289G>C (p.Arg2430Pro) c.7286G>C (p.Arg2429Pro) c.5276G>C (p.Arg1759Pro) c.4826G>C (p.Arg1609Pro) c.4034G>C (p.Arg1345Pro) c.7196G>C (p.Arg2399Pro) | |
| 8 | g.60856479G= | CA1788111940 | CHD7 | n.375G= c.*258G= (n.*258G=) c.7199G= (p.Arg2400=) c.1717-5750G= (n.1717-5750G=) n.380G= c.7289G= (p.Arg2430=) c.7286G= (p.Arg2429=) c.5276G= (p.Arg1759=) c.4826G= (p.Arg1609=) c.4034G= (p.Arg1345=) c.7196G= (p.Arg2399=) | |
| 8 | g.60856479G>T | CA371299900 | CHD7 | n.375G>T c.*258G>T (n.*258G>T) c.7199G>T (p.Arg2400Leu) c.1717-5750G>T (n.1717-5750G>T) n.380G>T c.7289G>T (p.Arg2430Leu) c.7286G>T (p.Arg2429Leu) c.5276G>T (p.Arg1759Leu) c.4826G>T (p.Arg1609Leu) c.4034G>T (p.Arg1345Leu) c.7196G>T (p.Arg2399Leu) | |
| 8 | g.60856492_60856494dup | CA4760773 | CHD7 | n.388_390dup c.*271_*273dup (n.*271_*273dup) c.7212_7214dup (p.Arg2405_Lys2406insArg) c.1717-5737_1717-5735dup (n.1717-5737_1717-5735dup) n.393_395dup c.7302_7304dup (p.Arg2435_Lys2436insArg) c.7299_7301dup (p.Arg2434_Lys2435insArg) c.5289_5291dup (p.Arg1764_Lys1765insArg) c.4839_4841dup (p.Arg1614_Lys1615insArg) c.4047_4049dup (p.Arg1350_Lys1351insArg) c.7209_7211dup (p.Arg2404_Lys2405insArg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60856492_60856494del | CA4760771 | CHD7 | n.388_390del c.*271_*273del (n.*271_*273del) c.7212_7214del (p.Arg2405del) c.1717-5737_1717-5735del (n.1717-5737_1717-5735del) n.393_395del c.7302_7304del (p.Arg2435del) c.7299_7301del (p.Arg2434del) c.5289_5291del (p.Arg1764del) c.4839_4841del (p.Arg1614del) c.4047_4049del (p.Arg1350del) c.7209_7211del (p.Arg2404del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60856489_60856494del | CA4760772 | CHD7 | n.385_390del c.*268_*273del (n.*268_*273del) c.7209_7214del (p.Arg2404_Arg2405del) c.1717-5740_1717-5735del (n.1717-5740_1717-5735del) n.390_395del c.7299_7304del (p.Arg2434_Arg2435del) c.7296_7301del (p.Arg2433_Arg2434del) c.5286_5291del (p.Arg1763_Arg1764del) c.4836_4841del (p.Arg1613_Arg1614del) c.4044_4049del (p.Arg1349_Arg1350del) c.7206_7211del (p.Arg2403_Arg2404del) | dbSNP ExAC gnomAD v2 |
| 8 | g.60856480G>A | CA461105343 | CHD7 | n.376G>A c.*259G>A (n.*259G>A) c.7200G>A (p.Arg2400=) c.1717-5749G>A (n.1717-5749G>A) n.381G>A c.7290G>A (p.Arg2430=) c.7287G>A (p.Arg2429=) c.5277G>A (p.Arg1759=) c.4827G>A (p.Arg1609=) c.4035G>A (p.Arg1345=) c.7197G>A (p.Arg2399=) | |
| 8 | g.60856480G>C | CA461105345 | CHD7 | n.376G>C c.*259G>C (n.*259G>C) c.7200G>C (p.Arg2400=) c.1717-5749G>C (n.1717-5749G>C) n.381G>C c.7290G>C (p.Arg2430=) c.7287G>C (p.Arg2429=) c.5277G>C (p.Arg1759=) c.4827G>C (p.Arg1609=) c.4035G>C (p.Arg1345=) c.7197G>C (p.Arg2399=) | |
| 8 | g.60856480G>T | CA461105346 | CHD7 | n.376G>T c.*259G>T (n.*259G>T) c.7200G>T (p.Arg2400=) c.1717-5749G>T (n.1717-5749G>T) n.381G>T c.7290G>T (p.Arg2430=) c.7287G>T (p.Arg2429=) c.5277G>T (p.Arg1759=) c.4827G>T (p.Arg1609=) c.4035G>T (p.Arg1345=) c.7197G>T (p.Arg2399=) | |
| 8 | g.60856481A= | CA1788111953 | CHD7 | n.377A= c.*260A= (n.*260A=) c.7201A= (p.Arg2401=) c.1717-5748A= (n.1717-5748A=) n.382A= c.7291A= (p.Arg2431=) c.7288A= (p.Arg2430=) c.5278A= (p.Arg1760=) c.4828A= (p.Arg1610=) c.4036A= (p.Arg1346=) c.7198A= (p.Arg2400=) | |
| 8 | g.60856481A>C | CA461105347 | CHD7 | n.377A>C c.*260A>C (n.*260A>C) c.7201A>C (p.Arg2401=) c.1717-5748A>C (n.1717-5748A>C) n.382A>C c.7291A>C (p.Arg2431=) c.7288A>C (p.Arg2430=) c.5278A>C (p.Arg1760=) c.4828A>C (p.Arg1610=) c.4036A>C (p.Arg1346=) c.7198A>C (p.Arg2400=) | |
| 8 | g.60856481A>G | CA371299903 | CHD7 | n.377A>G c.*260A>G (n.*260A>G) c.7201A>G (p.Arg2401Gly) c.1717-5748A>G (n.1717-5748A>G) n.382A>G c.7291A>G (p.Arg2431Gly) c.7288A>G (p.Arg2430Gly) c.5278A>G (p.Arg1760Gly) c.4828A>G (p.Arg1610Gly) c.4036A>G (p.Arg1346Gly) c.7198A>G (p.Arg2400Gly) | |
| 8 | g.60856481A>T | CA371299905 | CHD7 | n.377A>T c.*260A>T (n.*260A>T) c.7201A>T (p.Arg2401Trp) c.1717-5748A>T (n.1717-5748A>T) n.382A>T c.7291A>T (p.Arg2431Trp) c.7288A>T (p.Arg2430Trp) c.5278A>T (p.Arg1760Trp) c.4828A>T (p.Arg1610Trp) c.4036A>T (p.Arg1346Trp) c.7198A>T (p.Arg2400Trp) | ClinVar dbSNP |
| 8 | g.60856482G>A | CA371299906 | CHD7 | n.378G>A c.*261G>A (n.*261G>A) c.7202G>A (p.Arg2401Lys) c.1717-5747G>A (n.1717-5747G>A) n.383G>A c.7292G>A (p.Arg2431Lys) c.7289G>A (p.Arg2430Lys) c.5279G>A (p.Arg1760Lys) c.4829G>A (p.Arg1610Lys) c.4037G>A (p.Arg1346Lys) c.7199G>A (p.Arg2400Lys) | |
| 8 | g.60856482G>C | CA371299909 | CHD7 | n.378G>C c.*261G>C (n.*261G>C) c.7202G>C (p.Arg2401Thr) c.1717-5747G>C (n.1717-5747G>C) n.383G>C c.7292G>C (p.Arg2431Thr) c.7289G>C (p.Arg2430Thr) c.5279G>C (p.Arg1760Thr) c.4829G>C (p.Arg1610Thr) c.4037G>C (p.Arg1346Thr) c.7199G>C (p.Arg2400Thr) | |
| 8 | g.60856482G>T | CA371299907 | CHD7 | n.378G>T c.*261G>T (n.*261G>T) c.7202G>T (p.Arg2401Met) c.1717-5747G>T (n.1717-5747G>T) n.383G>T c.7292G>T (p.Arg2431Met) c.7289G>T (p.Arg2430Met) c.5279G>T (p.Arg1760Met) c.4829G>T (p.Arg1610Met) c.4037G>T (p.Arg1346Met) c.7199G>T (p.Arg2400Met) | |
| 8 | g.60856483G>A | CA461105354 | CHD7 | n.379G>A c.*262G>A (n.*262G>A) c.7203G>A (p.Arg2401=) c.1717-5746G>A (n.1717-5746G>A) n.384G>A c.7293G>A (p.Arg2431=) c.7290G>A (p.Arg2430=) c.5280G>A (p.Arg1760=) c.4830G>A (p.Arg1610=) c.4038G>A (p.Arg1346=) c.7200G>A (p.Arg2400=) | |
| 8 | g.60856483G>C | CA371299915 | CHD7 | n.379G>C c.*262G>C (n.*262G>C) c.7203G>C (p.Arg2401Ser) c.1717-5746G>C (n.1717-5746G>C) n.384G>C c.7293G>C (p.Arg2431Ser) c.7290G>C (p.Arg2430Ser) c.5280G>C (p.Arg1760Ser) c.4830G>C (p.Arg1610Ser) c.4038G>C (p.Arg1346Ser) c.7200G>C (p.Arg2400Ser) | gnomAD v4 |
| 8 | g.60856483G>T | CA371299918 | CHD7 | n.379G>T c.*262G>T (n.*262G>T) c.7203G>T (p.Arg2401Ser) c.1717-5746G>T (n.1717-5746G>T) n.384G>T c.7293G>T (p.Arg2431Ser) c.7290G>T (p.Arg2430Ser) c.5280G>T (p.Arg1760Ser) c.4830G>T (p.Arg1610Ser) c.4038G>T (p.Arg1346Ser) c.7200G>T (p.Arg2400Ser) | |
| 8 | g.60856484A= | CA1788111956 | CHD7 | n.380A= c.*263A= (n.*263A=) c.7204A= (p.Arg2402=) c.1717-5745A= (n.1717-5745A=) n.385A= c.7294A= (p.Arg2432=) c.7291A= (p.Arg2431=) c.5281A= (p.Arg1761=) c.4831A= (p.Arg1611=) c.4039A= (p.Arg1347=) c.7201A= (p.Arg2401=) | |
| 8 | g.60856484A>C | CA461105355 | CHD7 | n.380A>C c.*263A>C (n.*263A>C) c.7204A>C (p.Arg2402=) c.1717-5745A>C (n.1717-5745A>C) n.385A>C c.7294A>C (p.Arg2432=) c.7291A>C (p.Arg2431=) c.5281A>C (p.Arg1761=) c.4831A>C (p.Arg1611=) c.4039A>C (p.Arg1347=) c.7201A>C (p.Arg2401=) | COSMIC |
| 8 | g.60856484A>G | CA371299925 | CHD7 | n.380A>G c.*263A>G (n.*263A>G) c.7204A>G (p.Arg2402Gly) c.1717-5745A>G (n.1717-5745A>G) n.385A>G c.7294A>G (p.Arg2432Gly) c.7291A>G (p.Arg2431Gly) c.5281A>G (p.Arg1761Gly) c.4831A>G (p.Arg1611Gly) c.4039A>G (p.Arg1347Gly) c.7201A>G (p.Arg2401Gly) | gnomAD v4 COSMIC |
| 8 | g.60856484A>T | CA371299926 | CHD7 | n.380A>T c.*263A>T (n.*263A>T) c.7204A>T (p.Arg2402Trp) c.1717-5745A>T (n.1717-5745A>T) n.385A>T c.7294A>T (p.Arg2432Trp) c.7291A>T (p.Arg2431Trp) c.5281A>T (p.Arg1761Trp) c.4831A>T (p.Arg1611Trp) c.4039A>T (p.Arg1347Trp) c.7201A>T (p.Arg2401Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60856485G>A | CA371299927 | CHD7 | n.381G>A c.*264G>A (n.*264G>A) c.7205G>A (p.Arg2402Lys) c.1717-5744G>A (n.1717-5744G>A) n.386G>A c.7295G>A (p.Arg2432Lys) c.7292G>A (p.Arg2431Lys) c.5282G>A (p.Arg1761Lys) c.4832G>A (p.Arg1611Lys) c.4040G>A (p.Arg1347Lys) c.7202G>A (p.Arg2401Lys) | gnomAD v4 |
| 8 | g.60856485G>C | CA371299928 | CHD7 | n.381G>C c.*264G>C (n.*264G>C) c.7205G>C (p.Arg2402Thr) c.1717-5744G>C (n.1717-5744G>C) n.386G>C c.7295G>C (p.Arg2432Thr) c.7292G>C (p.Arg2431Thr) c.5282G>C (p.Arg1761Thr) c.4832G>C (p.Arg1611Thr) c.4040G>C (p.Arg1347Thr) c.7202G>C (p.Arg2401Thr) | |
| 8 | g.60856485G>T | CA371299930 | CHD7 | n.381G>T c.*264G>T (n.*264G>T) c.7205G>T (p.Arg2402Met) c.1717-5744G>T (n.1717-5744G>T) n.386G>T c.7295G>T (p.Arg2432Met) c.7292G>T (p.Arg2431Met) c.5282G>T (p.Arg1761Met) c.4832G>T (p.Arg1611Met) c.4040G>T (p.Arg1347Met) c.7202G>T (p.Arg2401Met) | |
| 8 | g.60856486G>A | CA461105358 | CHD7 | n.382G>A c.*265G>A (n.*265G>A) c.7206G>A (p.Arg2402=) c.1717-5743G>A (n.1717-5743G>A) n.387G>A c.7296G>A (p.Arg2432=) c.7293G>A (p.Arg2431=) c.5283G>A (p.Arg1761=) c.4833G>A (p.Arg1611=) c.4041G>A (p.Arg1347=) c.7203G>A (p.Arg2401=) | |
| 8 | g.60856486G>C | CA371299931 | CHD7 | n.382G>C c.*265G>C (n.*265G>C) c.7206G>C (p.Arg2402Ser) c.1717-5743G>C (n.1717-5743G>C) n.387G>C c.7296G>C (p.Arg2432Ser) c.7293G>C (p.Arg2431Ser) c.5283G>C (p.Arg1761Ser) c.4833G>C (p.Arg1611Ser) c.4041G>C (p.Arg1347Ser) c.7203G>C (p.Arg2401Ser) | |
| 8 | g.60856486G>T | CA371299932 | CHD7 | n.382G>T c.*265G>T (n.*265G>T) c.7206G>T (p.Arg2402Ser) c.1717-5743G>T (n.1717-5743G>T) n.387G>T c.7296G>T (p.Arg2432Ser) c.7293G>T (p.Arg2431Ser) c.5283G>T (p.Arg1761Ser) c.4833G>T (p.Arg1611Ser) c.4041G>T (p.Arg1347Ser) c.7203G>T (p.Arg2401Ser) | |
| 8 | g.60856487A= | CA1788111966 | CHD7 | n.383A= c.*266A= (n.*266A=) c.7207A= (p.Arg2403=) c.1717-5742A= (n.1717-5742A=) n.388A= c.7297A= (p.Arg2433=) c.7294A= (p.Arg2432=) c.5284A= (p.Arg1762=) c.4834A= (p.Arg1612=) c.4042A= (p.Arg1348=) c.7204A= (p.Arg2402=) | |
| 8 | g.60856487A>C | CA461105360 | CHD7 | n.383A>C c.*266A>C (n.*266A>C) c.7207A>C (p.Arg2403=) c.1717-5742A>C (n.1717-5742A>C) n.388A>C c.7297A>C (p.Arg2433=) c.7294A>C (p.Arg2432=) c.5284A>C (p.Arg1762=) c.4834A>C (p.Arg1612=) c.4042A>C (p.Arg1348=) c.7204A>C (p.Arg2402=) | |
| 8 | g.60856487A>G | CA371299938 | CHD7 | n.383A>G c.*266A>G (n.*266A>G) c.7207A>G (p.Arg2403Gly) c.1717-5742A>G (n.1717-5742A>G) n.388A>G c.7297A>G (p.Arg2433Gly) c.7294A>G (p.Arg2432Gly) c.5284A>G (p.Arg1762Gly) c.4834A>G (p.Arg1612Gly) c.4042A>G (p.Arg1348Gly) c.7204A>G (p.Arg2402Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60856487A>T | CA371299935 | CHD7 | n.383A>T c.*266A>T (n.*266A>T) c.7207A>T (p.Arg2403Trp) c.1717-5742A>T (n.1717-5742A>T) n.388A>T c.7297A>T (p.Arg2433Trp) c.7294A>T (p.Arg2432Trp) c.5284A>T (p.Arg1762Trp) c.4834A>T (p.Arg1612Trp) c.4042A>T (p.Arg1348Trp) c.7204A>T (p.Arg2402Trp) | |
| 8 | g.60856488G>A | CA371299939 | CHD7 | n.384G>A c.*267G>A (n.*267G>A) c.7208G>A (p.Arg2403Lys) c.1717-5741G>A (n.1717-5741G>A) n.389G>A c.7298G>A (p.Arg2433Lys) c.7295G>A (p.Arg2432Lys) c.5285G>A (p.Arg1762Lys) c.4835G>A (p.Arg1612Lys) c.4043G>A (p.Arg1348Lys) c.7205G>A (p.Arg2402Lys) | gnomAD v4 |
| 8 | g.60856488G>C | CA371299940 | CHD7 | n.384G>C c.*267G>C (n.*267G>C) c.7208G>C (p.Arg2403Thr) c.1717-5741G>C (n.1717-5741G>C) n.389G>C c.7298G>C (p.Arg2433Thr) c.7295G>C (p.Arg2432Thr) c.5285G>C (p.Arg1762Thr) c.4835G>C (p.Arg1612Thr) c.4043G>C (p.Arg1348Thr) c.7205G>C (p.Arg2402Thr) | |
| 8 | g.60856488G>T | CA371299946 | CHD7 | n.384G>T c.*267G>T (n.*267G>T) c.7208G>T (p.Arg2403Met) c.1717-5741G>T (n.1717-5741G>T) n.389G>T c.7298G>T (p.Arg2433Met) c.7295G>T (p.Arg2432Met) c.5285G>T (p.Arg1762Met) c.4835G>T (p.Arg1612Met) c.4043G>T (p.Arg1348Met) c.7205G>T (p.Arg2402Met) | |
| 8 | g.60856489del | CA2695209461 | CHD7 | n.385del c.*268del (n.*268del) c.7209del (p.Arg2404GlyfsTer?) c.1717-5740del (n.1717-5740del) n.390del c.7299del (p.Arg2434GlyfsTer?) c.7296del (p.Arg2433GlyfsTer?) c.5286del (p.Arg1763GlyfsTer?) c.4836del (p.Arg1613GlyfsTer?) c.4044del (p.Arg1349GlyfsTer?) c.7206del (p.Arg2403GlyfsTer?) | |
| 8 | g.60856489G>A | CA202635 | CHD7 | n.385G>A c.*268G>A (n.*268G>A) c.7209G>A (p.Arg2403=) c.1717-5740G>A (n.1717-5740G>A) n.390G>A c.7299G>A (p.Arg2433=) c.7296G>A (p.Arg2432=) c.5286G>A (p.Arg1762=) c.4836G>A (p.Arg1612=) c.4044G>A (p.Arg1348=) c.7206G>A (p.Arg2402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60856489G>C | CA371299950 | CHD7 | n.385G>C c.*268G>C (n.*268G>C) c.7209G>C (p.Arg2403Ser) c.1717-5740G>C (n.1717-5740G>C) n.390G>C c.7299G>C (p.Arg2433Ser) c.7296G>C (p.Arg2432Ser) c.5286G>C (p.Arg1762Ser) c.4836G>C (p.Arg1612Ser) c.4044G>C (p.Arg1348Ser) c.7206G>C (p.Arg2402Ser) | |
| 8 | g.60856489G= | CA1788111977 | CHD7 | n.385G= c.*268G= (n.*268G=) c.7209G= (p.Arg2403=) c.1717-5740G= (n.1717-5740G=) n.390G= c.7299G= (p.Arg2433=) c.7296G= (p.Arg2432=) c.5286G= (p.Arg1762=) c.4836G= (p.Arg1612=) c.4044G= (p.Arg1348=) c.7206G= (p.Arg2402=) | |
| 8 | g.60856489G>T | CA371299953 | CHD7 | n.385G>T c.*268G>T (n.*268G>T) c.7209G>T (p.Arg2403Ser) c.1717-5740G>T (n.1717-5740G>T) n.390G>T c.7299G>T (p.Arg2433Ser) c.7296G>T (p.Arg2432Ser) c.5286G>T (p.Arg1762Ser) c.4836G>T (p.Arg1612Ser) c.4044G>T (p.Arg1348Ser) c.7206G>T (p.Arg2402Ser) |