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.60852825A>G | CA2687403977 | CHD7 | c.6104-4A>G (n.6104-4A>G) c.1717-9404A>G (n.1717-9404A>G) c.6194-4A>G (n.6194-4A>G) c.4181-4A>G (n.4181-4A>G) c.3731-4A>G (n.3731-4A>G) c.2939-4A>G (n.2939-4A>G) | gnomAD v4 |
| 8 | g.60852827A= | CA1788102260 | CHD7 | c.6104-2A= (n.6104-2A=) c.1717-9402A= (n.1717-9402A=) c.6194-2A= (n.6194-2A=) c.4181-2A= (n.4181-2A=) c.3731-2A= (n.3731-2A=) c.2939-2A= (n.2939-2A=) | |
| 8 | g.60852827A>C | CA371324198 | CHD7 | c.6104-2A>C (n.6104-2A>C) c.1717-9402A>C (n.1717-9402A>C) c.6194-2A>C (n.6194-2A>C) c.4181-2A>C (n.4181-2A>C) c.3731-2A>C (n.3731-2A>C) c.2939-2A>C (n.2939-2A>C) | |
| 8 | g.60852827A>G | CA371324196 | CHD7 | c.6104-2A>G (n.6104-2A>G) c.1717-9402A>G (n.1717-9402A>G) c.6194-2A>G (n.6194-2A>G) c.4181-2A>G (n.4181-2A>G) c.3731-2A>G (n.3731-2A>G) c.2939-2A>G (n.2939-2A>G) | |
| 8 | g.60852827A>T | CA371324195 | CHD7 | c.6104-2A>T (n.6104-2A>T) c.1717-9402A>T (n.1717-9402A>T) c.6194-2A>T (n.6194-2A>T) c.4181-2A>T (n.4181-2A>T) c.3731-2A>T (n.3731-2A>T) c.2939-2A>T (n.2939-2A>T) | ClinVar dbSNP |
| 8 | g.60852828G>A | CA371324199 | CHD7 | c.6104-1G>A (n.6104-1G>A) c.1717-9401G>A (n.1717-9401G>A) c.6194-1G>A (n.6194-1G>A) c.4181-1G>A (n.4181-1G>A) c.3731-1G>A (n.3731-1G>A) c.2939-1G>A (n.2939-1G>A) | |
| 8 | g.60852828G>C | CA371324200 | CHD7 | c.6104-1G>C (n.6104-1G>C) c.1717-9401G>C (n.1717-9401G>C) c.6194-1G>C (n.6194-1G>C) c.4181-1G>C (n.4181-1G>C) c.3731-1G>C (n.3731-1G>C) c.2939-1G>C (n.2939-1G>C) | |
| 8 | g.60852828G>T | CA371324202 | CHD7 | c.6104-1G>T (n.6104-1G>T) c.1717-9401G>T (n.1717-9401G>T) c.6194-1G>T (n.6194-1G>T) c.4181-1G>T (n.4181-1G>T) c.3731-1G>T (n.3731-1G>T) c.2939-1G>T (n.2939-1G>T) | gnomAD v4 |
| 8 | g.60852828_60852829delinsGA | CA1788102280 | CHD7 | c.6104-1_6104delinsGA c.1717-9401_1717-9400delinsGA (n.1717-9401_1717-9400delinsGA) c.6194-1_6194delinsGA c.4181-1_4181delinsGA c.3731-1_3731delinsGA c.2939-1_2939delinsGA | |
| 8 | g.60852829A>C | CA371324204 | CHD7 | c.6104A>C (p.Glu2035Ala) c.1717-9400A>C (n.1717-9400A>C) c.6194A>C (p.Glu2065Ala) c.4181A>C (p.Glu1394Ala) c.3731A>C (p.Glu1244Ala) c.2939A>C (p.Glu980Ala) | |
| 8 | g.60852829A>G | CA371324206 | CHD7 | c.6104A>G (p.Glu2035Gly) c.1717-9400A>G (n.1717-9400A>G) c.6194A>G (p.Glu2065Gly) c.4181A>G (p.Glu1394Gly) c.3731A>G (p.Glu1244Gly) c.2939A>G (p.Glu980Gly) | |
| 8 | g.60852829A>T | CA371324207 | CHD7 | c.6104A>T (p.Glu2035Val) c.1717-9400A>T (n.1717-9400A>T) c.6194A>T (p.Glu2065Val) c.4181A>T (p.Glu1394Val) c.3731A>T (p.Glu1244Val) c.2939A>T (p.Glu980Val) | |
| 8 | g.60852830del | CA10603069 | CHD7 | c.6105del (p.Glu2035AspfsTer8) c.1717-9399del (n.1717-9399del) c.6195del (p.Glu2065AspfsTer8) c.4182del (p.Glu1394AspfsTer8) c.3732del (p.Glu1244AspfsTer8) c.2940del (p.Glu980AspfsTer8) | ClinVar dbSNP |
| 8 | g.60852830A= | CA1788102299 | CHD7 | c.6105A= (p.Glu2035=) c.1717-9399A= (n.1717-9399A=) c.6195A= (p.Glu2065=) c.4182A= (p.Glu1394=) c.3732A= (p.Glu1244=) c.2940A= (p.Glu980=) | |
| 8 | g.60852830A>C | CA371324210 | CHD7 | c.6105A>C (p.Glu2035Asp) c.1717-9399A>C (n.1717-9399A>C) c.6195A>C (p.Glu2065Asp) c.4182A>C (p.Glu1394Asp) c.3732A>C (p.Glu1244Asp) c.2940A>C (p.Glu980Asp) | dbSNP |
| 8 | g.60852830A>G | CA461104886 | CHD7 | c.6105A>G (p.Glu2035=) c.1717-9399A>G (n.1717-9399A>G) c.6195A>G (p.Glu2065=) c.4182A>G (p.Glu1394=) c.3732A>G (p.Glu1244=) c.2940A>G (p.Glu980=) | |
| 8 | g.60852830A>T | CA371324211 | CHD7 | c.6105A>T (p.Glu2035Asp) c.1717-9399A>T (n.1717-9399A>T) c.6195A>T (p.Glu2065Asp) c.4182A>T (p.Glu1394Asp) c.3732A>T (p.Glu1244Asp) c.2940A>T (p.Glu980Asp) | gnomAD v4 |
| 8 | g.60852831C>A | CA371324212 | CHD7 | c.6106C>A (p.Pro2036Thr) c.1717-9398C>A (n.1717-9398C>A) c.6196C>A (p.Pro2066Thr) c.4183C>A (p.Pro1395Thr) c.3733C>A (p.Pro1245Thr) c.2941C>A (p.Pro981Thr) | |
| 8 | g.60852831C>G | CA371324215 | CHD7 | c.6106C>G (p.Pro2036Ala) c.1717-9398C>G (n.1717-9398C>G) c.6196C>G (p.Pro2066Ala) c.4183C>G (p.Pro1395Ala) c.3733C>G (p.Pro1245Ala) c.2941C>G (p.Pro981Ala) | |
| 8 | g.60852831C>T | CA371324213 | CHD7 | c.6106C>T (p.Pro2036Ser) c.1717-9398C>T (n.1717-9398C>T) c.6196C>T (p.Pro2066Ser) c.4183C>T (p.Pro1395Ser) c.3733C>T (p.Pro1245Ser) c.2941C>T (p.Pro981Ser) | gnomAD v4 |
| 8 | g.60852832C>A | CA371324216 | CHD7 | c.6107C>A (p.Pro2036Gln) c.1717-9397C>A (n.1717-9397C>A) c.6197C>A (p.Pro2066Gln) c.4184C>A (p.Pro1395Gln) c.3734C>A (p.Pro1245Gln) c.2942C>A (p.Pro981Gln) | dbSNP |
| 8 | g.60852832C= | CA1788102308 | CHD7 | c.6107C= (p.Pro2036=) c.1717-9397C= (n.1717-9397C=) c.6197C= (p.Pro2066=) c.4184C= (p.Pro1395=) c.3734C= (p.Pro1245=) c.2942C= (p.Pro981=) | |
| 8 | g.60852832C>G | CA371324217 | CHD7 | c.6107C>G (p.Pro2036Arg) c.1717-9397C>G (n.1717-9397C>G) c.6197C>G (p.Pro2066Arg) c.4184C>G (p.Pro1395Arg) c.3734C>G (p.Pro1245Arg) c.2942C>G (p.Pro981Arg) | |
| 8 | g.60852832C>T | CA4760533 | CHD7 | c.6107C>T (p.Pro2036Leu) c.1717-9397C>T (n.1717-9397C>T) c.6197C>T (p.Pro2066Leu) c.4184C>T (p.Pro1395Leu) c.3734C>T (p.Pro1245Leu) c.2942C>T (p.Pro981Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852833G>A | CA4760534 | CHD7 | c.6108G>A (p.Pro2036=) c.1717-9396G>A (n.1717-9396G>A) c.6198G>A (p.Pro2066=) c.4185G>A (p.Pro1395=) c.3735G>A (p.Pro1245=) c.2943G>A (p.Pro981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852833G>C | CA4760535 | CHD7 | c.6108G>C (p.Pro2036=) c.1717-9396G>C (n.1717-9396G>C) c.6198G>C (p.Pro2066=) c.4185G>C (p.Pro1395=) c.3735G>C (p.Pro1245=) c.2943G>C (p.Pro981=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.60852833G= | CA1788102324 | CHD7 | c.6108G= (p.Pro2036=) c.1717-9396G= (n.1717-9396G=) c.6198G= (p.Pro2066=) c.4185G= (p.Pro1395=) c.3735G= (p.Pro1245=) c.2943G= (p.Pro981=) | |
| 8 | g.60852833G>T | CA461104887 | CHD7 | c.6108G>T (p.Pro2036=) c.1717-9396G>T (n.1717-9396G>T) c.6198G>T (p.Pro2066=) c.4185G>T (p.Pro1395=) c.3735G>T (p.Pro1245=) c.2943G>T (p.Pro981=) | gnomAD v4 |
| 8 | g.60852834C>A | CA371324219 | CHD7 | c.6109C>A (p.Pro2037Thr) c.1717-9395C>A (n.1717-9395C>A) c.6199C>A (p.Pro2067Thr) c.4186C>A (p.Pro1396Thr) c.3736C>A (p.Pro1246Thr) c.2944C>A (p.Pro982Thr) | ClinVar |
| 8 | g.60852834C= | CA1788102339 | CHD7 | c.6109C= (p.Pro2037=) c.1717-9395C= (n.1717-9395C=) c.6199C= (p.Pro2067=) c.4186C= (p.Pro1396=) c.3736C= (p.Pro1246=) c.2944C= (p.Pro982=) | |
| 8 | g.60852834C>G | CA371324220 | CHD7 | c.6109C>G (p.Pro2037Ala) c.1717-9395C>G (n.1717-9395C>G) c.6199C>G (p.Pro2067Ala) c.4186C>G (p.Pro1396Ala) c.3736C>G (p.Pro1246Ala) c.2944C>G (p.Pro982Ala) | |
| 8 | g.60852834C>T | CA371324221 | CHD7 | c.6109C>T (p.Pro2037Ser) c.1717-9395C>T (n.1717-9395C>T) c.6199C>T (p.Pro2067Ser) c.4186C>T (p.Pro1396Ser) c.3736C>T (p.Pro1246Ser) c.2944C>T (p.Pro982Ser) | dbSNP |
| 8 | g.60852835C>A | CA371324223 | CHD7 | c.6110C>A (p.Pro2037His) c.1717-9394C>A (n.1717-9394C>A) c.6200C>A (p.Pro2067His) c.4187C>A (p.Pro1396His) c.3737C>A (p.Pro1246His) c.2945C>A (p.Pro982His) | |
| 8 | g.60852835C= | CA1788102360 | CHD7 | c.6110C= (p.Pro2037=) c.1717-9394C= (n.1717-9394C=) c.6200C= (p.Pro2067=) c.4187C= (p.Pro1396=) c.3737C= (p.Pro1246=) c.2945C= (p.Pro982=) | |
| 8 | g.60852835C>G | CA371324225 | CHD7 | c.6110C>G (p.Pro2037Arg) c.1717-9394C>G (n.1717-9394C>G) c.6200C>G (p.Pro2067Arg) c.4187C>G (p.Pro1396Arg) c.3737C>G (p.Pro1246Arg) c.2945C>G (p.Pro982Arg) | |
| 8 | g.60852835C>T | CA4760536 | CHD7 | c.6110C>T (p.Pro2037Leu) c.1717-9394C>T (n.1717-9394C>T) c.6200C>T (p.Pro2067Leu) c.4187C>T (p.Pro1396Leu) c.3737C>T (p.Pro1246Leu) c.2945C>T (p.Pro982Leu) | dbSNP ExAC |
| 8 | g.60852836C>A | CA461104888 | CHD7 | c.6111C>A (p.Pro2037=) c.1717-9393C>A (n.1717-9393C>A) c.6201C>A (p.Pro2067=) c.4188C>A (p.Pro1396=) c.3738C>A (p.Pro1246=) c.2946C>A (p.Pro982=) | |
| 8 | g.60852836C= | CA1788102365 | CHD7 | c.6111C= (p.Pro2037=) c.1717-9393C= (n.1717-9393C=) c.6201C= (p.Pro2067=) c.4188C= (p.Pro1396=) c.3738C= (p.Pro1246=) c.2946C= (p.Pro982=) | |
| 8 | g.60852836C>G | CA461104889 | CHD7 | c.6111C>G (p.Pro2037=) c.1717-9393C>G (n.1717-9393C>G) c.6201C>G (p.Pro2067=) c.4188C>G (p.Pro1396=) c.3738C>G (p.Pro1246=) c.2946C>G (p.Pro982=) | |
| 8 | g.60852836C>T | CA148870 | CHD7 | c.6111C>T (p.Pro2037=) c.1717-9393C>T (n.1717-9393C>T) c.6201C>T (p.Pro2067=) c.4188C>T (p.Pro1396=) c.3738C>T (p.Pro1246=) c.2946C>T (p.Pro982=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852837G>A | CA4760537 | CHD7 | c.6112G>A (p.Asp2038Asn) c.1717-9392G>A (n.1717-9392G>A) c.6202G>A (p.Asp2068Asn) c.4189G>A (p.Asp1397Asn) c.3739G>A (p.Asp1247Asn) c.2947G>A (p.Asp983Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852837G>C | CA371324228 | CHD7 | c.6112G>C (p.Asp2038His) c.1717-9392G>C (n.1717-9392G>C) c.6202G>C (p.Asp2068His) c.4189G>C (p.Asp1397His) c.3739G>C (p.Asp1247His) c.2947G>C (p.Asp983His) | |
| 8 | g.60852837G= | CA1788102383 | CHD7 | c.6112G= (p.Asp2038=) c.1717-9392G= (n.1717-9392G=) c.6202G= (p.Asp2068=) c.4189G= (p.Asp1397=) c.3739G= (p.Asp1247=) c.2947G= (p.Asp983=) | |
| 8 | g.60852837G>T | CA371324229 | CHD7 | c.6112G>T (p.Asp2038Tyr) c.1717-9392G>T (n.1717-9392G>T) c.6202G>T (p.Asp2068Tyr) c.4189G>T (p.Asp1397Tyr) c.3739G>T (p.Asp1247Tyr) c.2947G>T (p.Asp983Tyr) | dbSNP gnomAD v4 |
| 8 | g.60852838A= | CA1788102391 | CHD7 | c.6113A= (p.Asp2038=) c.1717-9391A= (n.1717-9391A=) c.6203A= (p.Asp2068=) c.4190A= (p.Asp1397=) c.3740A= (p.Asp1247=) c.2948A= (p.Asp983=) | |
| 8 | g.60852838A>C | CA371324230 | CHD7 | c.6113A>C (p.Asp2038Ala) c.1717-9391A>C (n.1717-9391A>C) c.6203A>C (p.Asp2068Ala) c.4190A>C (p.Asp1397Ala) c.3740A>C (p.Asp1247Ala) c.2948A>C (p.Asp983Ala) | dbSNP |
| 8 | g.60852838A>G | CA371324231 | CHD7 | c.6113A>G (p.Asp2038Gly) c.1717-9391A>G (n.1717-9391A>G) c.6203A>G (p.Asp2068Gly) c.4190A>G (p.Asp1397Gly) c.3740A>G (p.Asp1247Gly) c.2948A>G (p.Asp983Gly) | |
| 8 | g.60852838A>T | CA371324232 | CHD7 | c.6113A>T (p.Asp2038Val) c.1717-9391A>T (n.1717-9391A>T) c.6203A>T (p.Asp2068Val) c.4190A>T (p.Asp1397Val) c.3740A>T (p.Asp1247Val) c.2948A>T (p.Asp983Val) | |
| 8 | g.60852838_60852845delinsACCTCTCC | CA1788102389 | CHD7 | c.6113_6120delinsACCTCTCC (p.Asp2038=) c.1717-9391_1717-9384delinsACCTCTCC (n.1717-9391_1717-9384delinsACCTCTCC) c.6203_6210delinsACCTCTCC (p.Asp2068=) c.4190_4197delinsACCTCTCC (p.Asp1397=) c.3740_3747delinsACCTCTCC (p.Asp1247=) c.2948_2955delinsACCTCTCC (p.Asp983=) | |
| 8 | g.60852839C>A | CA371324234 | CHD7 | c.6114C>A (p.Asp2038Glu) c.1717-9390C>A (n.1717-9390C>A) c.6204C>A (p.Asp2068Glu) c.4191C>A (p.Asp1397Glu) c.3741C>A (p.Asp1247Glu) c.2949C>A (p.Asp983Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852839C= | CA1788102410 | CHD7 | c.6114C= (p.Asp2038=) c.1717-9390C= (n.1717-9390C=) c.6204C= (p.Asp2068=) c.4191C= (p.Asp1397=) c.3741C= (p.Asp1247=) c.2949C= (p.Asp983=) | |
| 8 | g.60852839C>G | CA371324233 | CHD7 | c.6114C>G (p.Asp2038Glu) c.1717-9390C>G (n.1717-9390C>G) c.6204C>G (p.Asp2068Glu) c.4191C>G (p.Asp1397Glu) c.3741C>G (p.Asp1247Glu) c.2949C>G (p.Asp983Glu) | |
| 8 | g.60852839C>T | CA461104891 | CHD7 | c.6114C>T (p.Asp2038=) c.1717-9390C>T (n.1717-9390C>T) c.6204C>T (p.Asp2068=) c.4191C>T (p.Asp1397=) c.3741C>T (p.Asp1247=) c.2949C>T (p.Asp983=) | gnomAD v4 |
| 8 | g.60852839_60852845del | CA645369439 | CHD7 | c.6114_6120del (p.Leu2039ProfsTer2) c.1717-9390_1717-9384del (n.1717-9390_1717-9384del) c.6204_6210del (p.Leu2069ProfsTer2) c.4191_4197del (p.Leu1398ProfsTer2) c.3741_3747del (p.Leu1248ProfsTer2) c.2949_2955del (p.Leu984ProfsTer2) | ClinVar dbSNP |
| 8 | g.60852840C>A | CA371324236 | CHD7 | c.6115C>A (p.Leu2039Ile) c.1717-9389C>A (n.1717-9389C>A) c.6205C>A (p.Leu2069Ile) c.4192C>A (p.Leu1398Ile) c.3742C>A (p.Leu1248Ile) c.2950C>A (p.Leu984Ile) | |
| 8 | g.60852840C= | CA1788102415 | CHD7 | c.6115C= (p.Leu2039=) c.1717-9389C= (n.1717-9389C=) c.6205C= (p.Leu2069=) c.4192C= (p.Leu1398=) c.3742C= (p.Leu1248=) c.2950C= (p.Leu984=) | |
| 8 | g.60852840C>G | CA371324237 | CHD7 | c.6115C>G (p.Leu2039Val) c.1717-9389C>G (n.1717-9389C>G) c.6205C>G (p.Leu2069Val) c.4192C>G (p.Leu1398Val) c.3742C>G (p.Leu1248Val) c.2950C>G (p.Leu984Val) | |
| 8 | g.60852840C>T | CA371324238 | CHD7 | c.6115C>T (p.Leu2039Phe) c.1717-9389C>T (n.1717-9389C>T) c.6205C>T (p.Leu2069Phe) c.4192C>T (p.Leu1398Phe) c.3742C>T (p.Leu1248Phe) c.2950C>T (p.Leu984Phe) | dbSNP |
| 8 | g.60852841T>A | CA371324240 | CHD7 | c.6116T>A (p.Leu2039His) c.1717-9388T>A (n.1717-9388T>A) c.6206T>A (p.Leu2069His) c.4193T>A (p.Leu1398His) c.3743T>A (p.Leu1248His) c.2951T>A (p.Leu984His) | |
| 8 | g.60852841T>C | CA371324241 | CHD7 | c.6116T>C (p.Leu2039Pro) c.1717-9388T>C (n.1717-9388T>C) c.6206T>C (p.Leu2069Pro) c.4193T>C (p.Leu1398Pro) c.3743T>C (p.Leu1248Pro) c.2951T>C (p.Leu984Pro) | |
| 8 | g.60852841T>G | CA371324242 | CHD7 | c.6116T>G (p.Leu2039Arg) c.1717-9388T>G (n.1717-9388T>G) c.6206T>G (p.Leu2069Arg) c.4193T>G (p.Leu1398Arg) c.3743T>G (p.Leu1248Arg) c.2951T>G (p.Leu984Arg) | ClinVar dbSNP |
| 8 | g.60852842C>A | CA461104892 | CHD7 | c.6117C>A (p.Leu2039=) c.1717-9387C>A (n.1717-9387C>A) c.6207C>A (p.Leu2069=) c.4194C>A (p.Leu1398=) c.3744C>A (p.Leu1248=) c.2952C>A (p.Leu984=) | ClinVar |
| 8 | g.60852842C>G | CA461104893 | CHD7 | c.6117C>G (p.Leu2039=) c.1717-9387C>G (n.1717-9387C>G) c.6207C>G (p.Leu2069=) c.4194C>G (p.Leu1398=) c.3744C>G (p.Leu1248=) c.2952C>G (p.Leu984=) | |
| 8 | g.60852842C>T | CA461104894 | CHD7 | c.6117C>T (p.Leu2039=) c.1717-9387C>T (n.1717-9387C>T) c.6207C>T (p.Leu2069=) c.4194C>T (p.Leu1398=) c.3744C>T (p.Leu1248=) c.2952C>T (p.Leu984=) | gnomAD v4 |
| 8 | g.60852846_60852848del | CA2687403978 | CHD7 | c.6121_6123del (p.Ser2041del) c.1717-9383_1717-9381del (n.1717-9383_1717-9381del) c.6211_6213del (p.Ser2071del) c.4198_4200del (p.Ser1400del) c.3748_3750del (p.Ser1250del) c.2956_2958del (p.Ser986del) | gnomAD v4 |
| 8 | g.60852843T>A | CA371324243 | CHD7 | c.6118T>A (p.Ser2040Thr) c.1717-9386T>A (n.1717-9386T>A) c.6208T>A (p.Ser2070Thr) c.4195T>A (p.Ser1399Thr) c.3745T>A (p.Ser1249Thr) c.2953T>A (p.Ser985Thr) | |
| 8 | g.60852843T>C | CA371324245 | CHD7 | c.6118T>C (p.Ser2040Pro) c.1717-9386T>C (n.1717-9386T>C) c.6208T>C (p.Ser2070Pro) c.4195T>C (p.Ser1399Pro) c.3745T>C (p.Ser1249Pro) c.2953T>C (p.Ser985Pro) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852843T>G | CA371324246 | CHD7 | c.6118T>G (p.Ser2040Ala) c.1717-9386T>G (n.1717-9386T>G) c.6208T>G (p.Ser2070Ala) c.4195T>G (p.Ser1399Ala) c.3745T>G (p.Ser1249Ala) c.2953T>G (p.Ser985Ala) | |
| 8 | g.60852843T= | CA1788102417 | CHD7 | c.6118T= (p.Ser2040=) c.1717-9386T= (n.1717-9386T=) c.6208T= (p.Ser2070=) c.4195T= (p.Ser1399=) c.3745T= (p.Ser1249=) c.2953T= (p.Ser985=) | |
| 8 | g.60852844C>A | CA371324247 | CHD7 | c.6119C>A (p.Ser2040Tyr) c.1717-9385C>A (n.1717-9385C>A) c.6209C>A (p.Ser2070Tyr) c.4196C>A (p.Ser1399Tyr) c.3746C>A (p.Ser1249Tyr) c.2954C>A (p.Ser985Tyr) | |
| 8 | g.60852844C>G | CA371324248 | CHD7 | c.6119C>G (p.Ser2040Cys) c.1717-9385C>G (n.1717-9385C>G) c.6209C>G (p.Ser2070Cys) c.4196C>G (p.Ser1399Cys) c.3746C>G (p.Ser1249Cys) c.2954C>G (p.Ser985Cys) | |
| 8 | g.60852844C>T | CA371324249 | CHD7 | c.6119C>T (p.Ser2040Phe) c.1717-9385C>T (n.1717-9385C>T) c.6209C>T (p.Ser2070Phe) c.4196C>T (p.Ser1399Phe) c.3746C>T (p.Ser1249Phe) c.2954C>T (p.Ser985Phe) | gnomAD v4 |
| 8 | g.60852845C>A | CA461104896 | CHD7 | c.6120C>A (p.Ser2040=) c.1717-9384C>A (n.1717-9384C>A) c.6210C>A (p.Ser2070=) c.4197C>A (p.Ser1399=) c.3747C>A (p.Ser1249=) c.2955C>A (p.Ser985=) | |
| 8 | g.60852845C= | CA1788102434 | CHD7 | c.6120C= (p.Ser2040=) c.1717-9384C= (n.1717-9384C=) c.6210C= (p.Ser2070=) c.4197C= (p.Ser1399=) c.3747C= (p.Ser1249=) c.2955C= (p.Ser985=) | |
| 8 | g.60852845C>G | CA461104895 | CHD7 | c.6120C>G (p.Ser2040=) c.1717-9384C>G (n.1717-9384C>G) c.6210C>G (p.Ser2070=) c.4197C>G (p.Ser1399=) c.3747C>G (p.Ser1249=) c.2955C>G (p.Ser985=) | |
| 8 | g.60852845C>T | CA4760538 | CHD7 | c.6120C>T (p.Ser2040=) c.1717-9384C>T (n.1717-9384C>T) c.6210C>T (p.Ser2070=) c.4197C>T (p.Ser1399=) c.3747C>T (p.Ser1249=) c.2955C>T (p.Ser985=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852846T>A | CA371324251 | CHD7 | c.6121T>A (p.Ser2041Thr) c.1717-9383T>A (n.1717-9383T>A) c.6211T>A (p.Ser2071Thr) c.4198T>A (p.Ser1400Thr) c.3748T>A (p.Ser1250Thr) c.2956T>A (p.Ser986Thr) | |
| 8 | g.60852846T>C | CA371324254 | CHD7 | c.6121T>C (p.Ser2041Pro) c.1717-9383T>C (n.1717-9383T>C) c.6211T>C (p.Ser2071Pro) c.4198T>C (p.Ser1400Pro) c.3748T>C (p.Ser1250Pro) c.2956T>C (p.Ser986Pro) | |
| 8 | g.60852846T>G | CA371324252 | CHD7 | c.6121T>G (p.Ser2041Ala) c.1717-9383T>G (n.1717-9383T>G) c.6211T>G (p.Ser2071Ala) c.4198T>G (p.Ser1400Ala) c.3748T>G (p.Ser1250Ala) c.2956T>G (p.Ser986Ala) | |
| 8 | g.60852847C>A | CA371324255 | CHD7 | c.6122C>A (p.Ser2041Tyr) c.1717-9382C>A (n.1717-9382C>A) c.6212C>A (p.Ser2071Tyr) c.4199C>A (p.Ser1400Tyr) c.3749C>A (p.Ser1250Tyr) c.2957C>A (p.Ser986Tyr) | |
| 8 | g.60852847C= | CA1788102439 | CHD7 | c.6122C= (p.Ser2041=) c.1717-9382C= (n.1717-9382C=) c.6212C= (p.Ser2071=) c.4199C= (p.Ser1400=) c.3749C= (p.Ser1250=) c.2957C= (p.Ser986=) | |
| 8 | g.60852847C>G | CA4760539 | CHD7 | c.6122C>G (p.Ser2041Cys) c.1717-9382C>G (n.1717-9382C>G) c.6212C>G (p.Ser2071Cys) c.4199C>G (p.Ser1400Cys) c.3749C>G (p.Ser1250Cys) c.2957C>G (p.Ser986Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852847C>T | CA371324257 | CHD7 | c.6122C>T (p.Ser2041Phe) c.1717-9382C>T (n.1717-9382C>T) c.6212C>T (p.Ser2071Phe) c.4199C>T (p.Ser1400Phe) c.3749C>T (p.Ser1250Phe) c.2957C>T (p.Ser986Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.60852848C>A | CA461104897 | CHD7 | c.6123C>A (p.Ser2041=) c.1717-9381C>A (n.1717-9381C>A) c.6213C>A (p.Ser2071=) c.4200C>A (p.Ser1400=) c.3750C>A (p.Ser1250=) c.2958C>A (p.Ser986=) | |
| 8 | g.60852848C>G | CA461104898 | CHD7 | c.6123C>G (p.Ser2041=) c.1717-9381C>G (n.1717-9381C>G) c.6213C>G (p.Ser2071=) c.4200C>G (p.Ser1400=) c.3750C>G (p.Ser1250=) c.2958C>G (p.Ser986=) | |
| 8 | g.60852848C>T | CA461104899 | CHD7 | c.6123C>T (p.Ser2041=) c.1717-9381C>T (n.1717-9381C>T) c.6213C>T (p.Ser2071=) c.4200C>T (p.Ser1400=) c.3750C>T (p.Ser1250=) c.2958C>T (p.Ser986=) | ClinVar dbSNP COSMIC |
| 8 | g.60852849A>C | CA371324259 | CHD7 | c.6124A>C (p.Ile2042Leu) c.1717-9380A>C (n.1717-9380A>C) c.6214A>C (p.Ile2072Leu) c.4201A>C (p.Ile1401Leu) c.3751A>C (p.Ile1251Leu) c.2959A>C (p.Ile987Leu) | |
| 8 | g.60852849A>G | CA371324261 | CHD7 | c.6124A>G (p.Ile2042Val) c.1717-9380A>G (n.1717-9380A>G) c.6214A>G (p.Ile2072Val) c.4201A>G (p.Ile1401Val) c.3751A>G (p.Ile1251Val) c.2959A>G (p.Ile987Val) | |
| 8 | g.60852849A>T | CA371324262 | CHD7 | c.6124A>T (p.Ile2042Leu) c.1717-9380A>T (n.1717-9380A>T) c.6214A>T (p.Ile2072Leu) c.4201A>T (p.Ile1401Leu) c.3751A>T (p.Ile1251Leu) c.2959A>T (p.Ile987Leu) | |
| 8 | g.60852850T>A | CA371324264 | CHD7 | c.6125T>A (p.Ile2042Lys) c.1717-9379T>A (n.1717-9379T>A) c.6215T>A (p.Ile2072Lys) c.4202T>A (p.Ile1401Lys) c.3752T>A (p.Ile1251Lys) c.2960T>A (p.Ile987Lys) | |
| 8 | g.60852850T>C | CA371324265 | CHD7 | c.6125T>C (p.Ile2042Thr) c.1717-9379T>C (n.1717-9379T>C) c.6215T>C (p.Ile2072Thr) c.4202T>C (p.Ile1401Thr) c.3752T>C (p.Ile1251Thr) c.2960T>C (p.Ile987Thr) | |
| 8 | g.60852850T>G | CA371324267 | CHD7 | c.6125T>G (p.Ile2042Arg) c.1717-9379T>G (n.1717-9379T>G) c.6215T>G (p.Ile2072Arg) c.4202T>G (p.Ile1401Arg) c.3752T>G (p.Ile1251Arg) c.2960T>G (p.Ile987Arg) | |
| 8 | g.60852851A>C | CA461104904 | CHD7 | c.6126A>C (p.Ile2042=) c.1717-9378A>C (n.1717-9378A>C) c.6216A>C (p.Ile2072=) c.4203A>C (p.Ile1401=) c.3753A>C (p.Ile1251=) c.2961A>C (p.Ile987=) | |
| 8 | g.60852851A>G | CA371324268 | CHD7 | c.6126A>G (p.Ile2042Met) c.1717-9378A>G (n.1717-9378A>G) c.6216A>G (p.Ile2072Met) c.4203A>G (p.Ile1401Met) c.3753A>G (p.Ile1251Met) c.2961A>G (p.Ile987Met) | |
| 8 | g.60852851A>T | CA461104905 | CHD7 | c.6126A>T (p.Ile2042=) c.1717-9378A>T (n.1717-9378A>T) c.6216A>T (p.Ile2072=) c.4203A>T (p.Ile1401=) c.3753A>T (p.Ile1251=) c.2961A>T (p.Ile987=) | |
| 8 | g.60852852A>C | CA371324273 | CHD7 | c.6127A>C (p.Ile2043Leu) c.1717-9377A>C (n.1717-9377A>C) c.6217A>C (p.Ile2073Leu) c.4204A>C (p.Ile1402Leu) c.3754A>C (p.Ile1252Leu) c.2962A>C (p.Ile988Leu) | |
| 8 | g.60852852A>G | CA371324272 | CHD7 | c.6127A>G (p.Ile2043Val) c.1717-9377A>G (n.1717-9377A>G) c.6217A>G (p.Ile2073Val) c.4204A>G (p.Ile1402Val) c.3754A>G (p.Ile1252Val) c.2962A>G (p.Ile988Val) | gnomAD v4 |
| 8 | g.60852852A>T | CA371324270 | CHD7 | c.6127A>T (p.Ile2043Phe) c.1717-9377A>T (n.1717-9377A>T) c.6217A>T (p.Ile2073Phe) c.4204A>T (p.Ile1402Phe) c.3754A>T (p.Ile1252Phe) c.2962A>T (p.Ile988Phe) | |
| 8 | g.60852853T>A | CA371324275 | CHD7 | c.6128T>A (p.Ile2043Asn) c.1717-9376T>A (n.1717-9376T>A) c.6218T>A (p.Ile2073Asn) c.4205T>A (p.Ile1402Asn) c.3755T>A (p.Ile1252Asn) c.2963T>A (p.Ile988Asn) | |
| 8 | g.60852853T>C | CA371324276 | CHD7 | c.6128T>C (p.Ile2043Thr) c.1717-9376T>C (n.1717-9376T>C) c.6218T>C (p.Ile2073Thr) c.4205T>C (p.Ile1402Thr) c.3755T>C (p.Ile1252Thr) c.2963T>C (p.Ile988Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852853T>G | CA371324277 | CHD7 | c.6128T>G (p.Ile2043Ser) c.1717-9376T>G (n.1717-9376T>G) c.6218T>G (p.Ile2073Ser) c.4205T>G (p.Ile1402Ser) c.3755T>G (p.Ile1252Ser) c.2963T>G (p.Ile988Ser) | |
| 8 | g.60852853T= | CA1788102443 | CHD7 | c.6128T= (p.Ile2043=) c.1717-9376T= (n.1717-9376T=) c.6218T= (p.Ile2073=) c.4205T= (p.Ile1402=) c.3755T= (p.Ile1252=) c.2963T= (p.Ile988=) | |
| 8 | g.60852854T>A | CA461104908 | CHD7 | c.6129T>A (p.Ile2043=) c.1717-9375T>A (n.1717-9375T>A) c.6219T>A (p.Ile2073=) c.4206T>A (p.Ile1402=) c.3756T>A (p.Ile1252=) c.2964T>A (p.Ile988=) | |
| 8 | g.60852854T>C | CA461104909 | CHD7 | c.6129T>C (p.Ile2043=) c.1717-9375T>C (n.1717-9375T>C) c.6219T>C (p.Ile2073=) c.4206T>C (p.Ile1402=) c.3756T>C (p.Ile1252=) c.2964T>C (p.Ile988=) | dbSNP |
| 8 | g.60852854T>G | CA371324279 | CHD7 | c.6129T>G (p.Ile2043Met) c.1717-9375T>G (n.1717-9375T>G) c.6219T>G (p.Ile2073Met) c.4206T>G (p.Ile1402Met) c.3756T>G (p.Ile1252Met) c.2964T>G (p.Ile988Met) | |
| 8 | g.60852854T= | CA1788102447 | CHD7 | c.6129T= (p.Ile2043=) c.1717-9375T= (n.1717-9375T=) c.6219T= (p.Ile2073=) c.4206T= (p.Ile1402=) c.3756T= (p.Ile1252=) c.2964T= (p.Ile988=) | |
| 8 | g.60852855G>A | CA371324280 | CHD7 | c.6130G>A (p.Glu2044Lys) c.1717-9374G>A (n.1717-9374G>A) c.6220G>A (p.Glu2074Lys) c.4207G>A (p.Glu1403Lys) c.3757G>A (p.Glu1253Lys) c.2965G>A (p.Glu989Lys) | |
| 8 | g.60852855G>C | CA371324282 | CHD7 | c.6130G>C (p.Glu2044Gln) c.1717-9374G>C (n.1717-9374G>C) c.6220G>C (p.Glu2074Gln) c.4207G>C (p.Glu1403Gln) c.3757G>C (p.Glu1253Gln) c.2965G>C (p.Glu989Gln) | dbSNP |
| 8 | g.60852855G= | CA1788102450 | CHD7 | c.6130G= (p.Glu2044=) c.1717-9374G= (n.1717-9374G=) c.6220G= (p.Glu2074=) c.4207G= (p.Glu1403=) c.3757G= (p.Glu1253=) c.2965G= (p.Glu989=) | |
| 8 | g.60852855G>T | CA371324283 | CHD7 | c.6130G>T (p.Glu2044Ter) c.1717-9374G>T (n.1717-9374G>T) c.6220G>T (p.Glu2074Ter) c.4207G>T (p.Glu1403Ter) c.3757G>T (p.Glu1253Ter) c.2965G>T (p.Glu989Ter) | |
| 8 | g.60852860_60852878dup | CA2695209407 | CHD7 | c.6135_6153dup (p.Ser2052AspfsTer14) c.1717-9369_1717-9351dup (n.1717-9369_1717-9351dup) c.6225_6243dup (p.Ser2082AspfsTer14) c.4212_4230dup (p.Ser1411AspfsTer14) c.3762_3780dup (p.Ser1261AspfsTer14) c.2970_2988dup (p.Ser997AspfsTer14) | |
| 8 | g.60852856A>C | CA371324285 | CHD7 | c.6131A>C (p.Glu2044Ala) c.1717-9373A>C (n.1717-9373A>C) c.6221A>C (p.Glu2074Ala) c.4208A>C (p.Glu1403Ala) c.3758A>C (p.Glu1253Ala) c.2966A>C (p.Glu989Ala) | |
| 8 | g.60852856A>G | CA371324286 | CHD7 | c.6131A>G (p.Glu2044Gly) c.1717-9373A>G (n.1717-9373A>G) c.6221A>G (p.Glu2074Gly) c.4208A>G (p.Glu1403Gly) c.3758A>G (p.Glu1253Gly) c.2966A>G (p.Glu989Gly) | |
| 8 | g.60852856A>T | CA371324287 | CHD7 | c.6131A>T (p.Glu2044Val) c.1717-9373A>T (n.1717-9373A>T) c.6221A>T (p.Glu2074Val) c.4208A>T (p.Glu1403Val) c.3758A>T (p.Glu1253Val) c.2966A>T (p.Glu989Val) | |
| 8 | g.60852857G>A | CA461104911 | CHD7 | c.6132G>A (p.Glu2044=) c.1717-9372G>A (n.1717-9372G>A) c.6222G>A (p.Glu2074=) c.4209G>A (p.Glu1403=) c.3759G>A (p.Glu1253=) c.2967G>A (p.Glu989=) | |
| 8 | g.60852857G>C | CA371324288 | CHD7 | c.6132G>C (p.Glu2044Asp) c.1717-9372G>C (n.1717-9372G>C) c.6222G>C (p.Glu2074Asp) c.4209G>C (p.Glu1403Asp) c.3759G>C (p.Glu1253Asp) c.2967G>C (p.Glu989Asp) | |
| 8 | g.60852857G>T | CA371324289 | CHD7 | c.6132G>T (p.Glu2044Asp) c.1717-9372G>T (n.1717-9372G>T) c.6222G>T (p.Glu2074Asp) c.4209G>T (p.Glu1403Asp) c.3759G>T (p.Glu1253Asp) c.2967G>T (p.Glu989Asp) | |
| 8 | g.60852858C>A | CA371324293 | CHD7 | c.6133C>A (p.Pro2045Thr) c.1717-9371C>A (n.1717-9371C>A) c.6223C>A (p.Pro2075Thr) c.4210C>A (p.Pro1404Thr) c.3760C>A (p.Pro1254Thr) c.2968C>A (p.Pro990Thr) | |
| 8 | g.60852858C>G | CA371324294 | CHD7 | c.6133C>G (p.Pro2045Ala) c.1717-9371C>G (n.1717-9371C>G) c.6223C>G (p.Pro2075Ala) c.4210C>G (p.Pro1404Ala) c.3760C>G (p.Pro1254Ala) c.2968C>G (p.Pro990Ala) | |
| 8 | g.60852858C>T | CA371324291 | CHD7 | c.6133C>T (p.Pro2045Ser) c.1717-9371C>T (n.1717-9371C>T) c.6223C>T (p.Pro2075Ser) c.4210C>T (p.Pro1404Ser) c.3760C>T (p.Pro1254Ser) c.2968C>T (p.Pro990Ser) | |
| 8 | g.60852859C>A | CA371324297 | CHD7 | c.6134C>A (p.Pro2045Gln) c.1717-9370C>A (n.1717-9370C>A) c.6224C>A (p.Pro2075Gln) c.4211C>A (p.Pro1404Gln) c.3761C>A (p.Pro1254Gln) c.2969C>A (p.Pro990Gln) | dbSNP |
| 8 | g.60852859C= | CA1788102454 | CHD7 | c.6134C= (p.Pro2045=) c.1717-9370C= (n.1717-9370C=) c.6224C= (p.Pro2075=) c.4211C= (p.Pro1404=) c.3761C= (p.Pro1254=) c.2969C= (p.Pro990=) | |
| 8 | g.60852859C>G | CA371324295 | CHD7 | c.6134C>G (p.Pro2045Arg) c.1717-9370C>G (n.1717-9370C>G) c.6224C>G (p.Pro2075Arg) c.4211C>G (p.Pro1404Arg) c.3761C>G (p.Pro1254Arg) c.2969C>G (p.Pro990Arg) | |
| 8 | g.60852859C>T | CA371324296 | CHD7 | c.6134C>T (p.Pro2045Leu) c.1717-9370C>T (n.1717-9370C>T) c.6224C>T (p.Pro2075Leu) c.4211C>T (p.Pro1404Leu) c.3761C>T (p.Pro1254Leu) c.2969C>T (p.Pro990Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852860G>A | CA171756 | CHD7 | c.6135G>A (p.Pro2045=) c.1717-9369G>A (n.1717-9369G>A) c.6225G>A (p.Pro2075=) c.4212G>A (p.Pro1404=) c.3762G>A (p.Pro1254=) c.2970G>A (p.Pro990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852860G>C | CA4760540 | CHD7 | c.6135G>C (p.Pro2045=) c.1717-9369G>C (n.1717-9369G>C) c.6225G>C (p.Pro2075=) c.4212G>C (p.Pro1404=) c.3762G>C (p.Pro1254=) c.2970G>C (p.Pro990=) | dbSNP ExAC gnomAD v2 |
| 8 | g.60852860G= | CA1788102470 | CHD7 | c.6135G= (p.Pro2045=) c.1717-9369G= (n.1717-9369G=) c.6225G= (p.Pro2075=) c.4212G= (p.Pro1404=) c.3762G= (p.Pro1254=) c.2970G= (p.Pro990=) | |
| 8 | g.60852860G>T | CA461104913 | CHD7 | c.6135G>T (p.Pro2045=) c.1717-9369G>T (n.1717-9369G>T) c.6225G>T (p.Pro2075=) c.4212G>T (p.Pro1404=) c.3762G>T (p.Pro1254=) c.2970G>T (p.Pro990=) | ClinVar dbSNP gnomAD v2 |
| 8 | g.60852861A>C | CA371324298 | CHD7 | c.6136A>C (p.Ile2046Leu) c.1717-9368A>C (n.1717-9368A>C) c.6226A>C (p.Ile2076Leu) c.4213A>C (p.Ile1405Leu) c.3763A>C (p.Ile1255Leu) c.2971A>C (p.Ile991Leu) | |
| 8 | g.60852861A>G | CA371324299 | CHD7 | c.6136A>G (p.Ile2046Val) c.1717-9368A>G (n.1717-9368A>G) c.6226A>G (p.Ile2076Val) c.4213A>G (p.Ile1405Val) c.3763A>G (p.Ile1255Val) c.2971A>G (p.Ile991Val) | |
| 8 | g.60852861A>T | CA371324300 | CHD7 | c.6136A>T (p.Ile2046Phe) c.1717-9368A>T (n.1717-9368A>T) c.6226A>T (p.Ile2076Phe) c.4213A>T (p.Ile1405Phe) c.3763A>T (p.Ile1255Phe) c.2971A>T (p.Ile991Phe) | |
| 8 | g.60852862T>A | CA371324301 | CHD7 | c.6137T>A (p.Ile2046Asn) c.1717-9367T>A (n.1717-9367T>A) c.6227T>A (p.Ile2076Asn) c.4214T>A (p.Ile1405Asn) c.3764T>A (p.Ile1255Asn) c.2972T>A (p.Ile991Asn) | |
| 8 | g.60852862T>C | CA371324302 | CHD7 | c.6137T>C (p.Ile2046Thr) c.1717-9367T>C (n.1717-9367T>C) c.6227T>C (p.Ile2076Thr) c.4214T>C (p.Ile1405Thr) c.3764T>C (p.Ile1255Thr) c.2972T>C (p.Ile991Thr) | |
| 8 | g.60852862T>G | CA371324303 | CHD7 | c.6137T>G (p.Ile2046Ser) c.1717-9367T>G (n.1717-9367T>G) c.6227T>G (p.Ile2076Ser) c.4214T>G (p.Ile1405Ser) c.3764T>G (p.Ile1255Ser) c.2972T>G (p.Ile991Ser) | |
| 8 | g.60852863C>A | CA461104915 | CHD7 | c.6138C>A (p.Ile2046=) c.1717-9366C>A (n.1717-9366C>A) c.6228C>A (p.Ile2076=) c.4215C>A (p.Ile1405=) c.3765C>A (p.Ile1255=) c.2973C>A (p.Ile991=) | |
| 8 | g.60852863C>G | CA371324304 | CHD7 | c.6138C>G (p.Ile2046Met) c.1717-9366C>G (n.1717-9366C>G) c.6228C>G (p.Ile2076Met) c.4215C>G (p.Ile1405Met) c.3765C>G (p.Ile1255Met) c.2973C>G (p.Ile991Met) | |
| 8 | g.60852863C>T | CA461104916 | CHD7 | c.6138C>T (p.Ile2046=) c.1717-9366C>T (n.1717-9366C>T) c.6228C>T (p.Ile2076=) c.4215C>T (p.Ile1405=) c.3765C>T (p.Ile1255=) c.2973C>T (p.Ile991=) | ClinVar dbSNP |
| 8 | g.60852864A= | CA1788102491 | CHD7 | c.6139A= (p.Thr2047=) c.1717-9365A= (n.1717-9365A=) c.6229A= (p.Thr2077=) c.4216A= (p.Thr1406=) c.3766A= (p.Thr1256=) c.2974A= (p.Thr992=) | |
| 8 | g.60852864A>C | CA371324305 | CHD7 | c.6139A>C (p.Thr2047Pro) c.1717-9365A>C (n.1717-9365A>C) c.6229A>C (p.Thr2077Pro) c.4216A>C (p.Thr1406Pro) c.3766A>C (p.Thr1256Pro) c.2974A>C (p.Thr992Pro) | |
| 8 | g.60852864A>G | CA371324306 | CHD7 | c.6139A>G (p.Thr2047Ala) c.1717-9365A>G (n.1717-9365A>G) c.6229A>G (p.Thr2077Ala) c.4216A>G (p.Thr1406Ala) c.3766A>G (p.Thr1256Ala) c.2974A>G (p.Thr992Ala) | |
| 8 | g.60852864A>T | CA4760541 | CHD7 | c.6139A>T (p.Thr2047Ser) c.1717-9365A>T (n.1717-9365A>T) c.6229A>T (p.Thr2077Ser) c.4216A>T (p.Thr1406Ser) c.3766A>T (p.Thr1256Ser) c.2974A>T (p.Thr992Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852865C>A | CA371324309 | CHD7 | c.6140C>A (p.Thr2047Lys) c.1717-9364C>A (n.1717-9364C>A) c.6230C>A (p.Thr2077Lys) c.4217C>A (p.Thr1406Lys) c.3767C>A (p.Thr1256Lys) c.2975C>A (p.Thr992Lys) | |
| 8 | g.60852865C>G | CA371324307 | CHD7 | c.6140C>G (p.Thr2047Arg) c.1717-9364C>G (n.1717-9364C>G) c.6230C>G (p.Thr2077Arg) c.4217C>G (p.Thr1406Arg) c.3767C>G (p.Thr1256Arg) c.2975C>G (p.Thr992Arg) | gnomAD v4 |
| 8 | g.60852865C>T | CA371324308 | CHD7 | c.6140C>T (p.Thr2047Ile) c.1717-9364C>T (n.1717-9364C>T) c.6230C>T (p.Thr2077Ile) c.4217C>T (p.Thr1406Ile) c.3767C>T (p.Thr1256Ile) c.2975C>T (p.Thr992Ile) | |
| 8 | g.60852865_60852867delinsCAG | CA1788102498 | CHD7 | c.6140_6142delinsCAG (p.Thr2047=) c.1717-9364_1717-9362delinsCAG (n.1717-9364_1717-9362delinsCAG) c.6230_6232delinsCAG (p.Thr2077=) c.4217_4219delinsCAG (p.Thr1406=) c.3767_3769delinsCAG (p.Thr1256=) c.2975_2977delinsCAG (p.Thr992=) | |
| 8 | g.60852866A>C | CA461104922 | CHD7 | c.6141A>C (p.Thr2047=) c.1717-9363A>C (n.1717-9363A>C) c.6231A>C (p.Thr2077=) c.4218A>C (p.Thr1406=) c.3768A>C (p.Thr1256=) c.2976A>C (p.Thr992=) | |
| 8 | g.60852866A>G | CA461104921 | CHD7 | c.6141A>G (p.Thr2047=) c.1717-9363A>G (n.1717-9363A>G) c.6231A>G (p.Thr2077=) c.4218A>G (p.Thr1406=) c.3768A>G (p.Thr1256=) c.2976A>G (p.Thr992=) | gnomAD v4 |
| 8 | g.60852866A>T | CA461104920 | CHD7 | c.6141A>T (p.Thr2047=) c.1717-9363A>T (n.1717-9363A>T) c.6231A>T (p.Thr2077=) c.4218A>T (p.Thr1406=) c.3768A>T (p.Thr1256=) c.2976A>T (p.Thr992=) | |
| 8 | g.60852868_60852869del | CA658797100 | CHD7 | c.6143_6144del (p.Glu2048GlyfsTer11) c.1717-9361_1717-9360del (n.1717-9361_1717-9360del) c.6233_6234del (p.Glu2078GlyfsTer11) c.4220_4221del (p.Glu1407GlyfsTer11) c.3770_3771del (p.Glu1257GlyfsTer11) c.2978_2979del (p.Glu993GlyfsTer11) | ClinVar dbSNP |
| 8 | g.60852867G>A | CA371324310 | CHD7 | c.6142G>A (p.Glu2048Lys) c.1717-9362G>A (n.1717-9362G>A) c.6232G>A (p.Glu2078Lys) c.4219G>A (p.Glu1407Lys) c.3769G>A (p.Glu1257Lys) c.2977G>A (p.Glu993Lys) | |
| 8 | g.60852867G>C | CA371324311 | CHD7 | c.6142G>C (p.Glu2048Gln) c.1717-9362G>C (n.1717-9362G>C) c.6232G>C (p.Glu2078Gln) c.4219G>C (p.Glu1407Gln) c.3769G>C (p.Glu1257Gln) c.2977G>C (p.Glu993Gln) | |
| 8 | g.60852867G>T | CA371324312 | CHD7 | c.6142G>T (p.Glu2048Ter) c.1717-9362G>T (n.1717-9362G>T) c.6232G>T (p.Glu2078Ter) c.4219G>T (p.Glu1407Ter) c.3769G>T (p.Glu1257Ter) c.2977G>T (p.Glu993Ter) | |
| 8 | g.60852868A>C | CA371324313 | CHD7 | c.6143A>C (p.Glu2048Ala) c.1717-9361A>C (n.1717-9361A>C) c.6233A>C (p.Glu2078Ala) c.4220A>C (p.Glu1407Ala) c.3770A>C (p.Glu1257Ala) c.2978A>C (p.Glu993Ala) | |
| 8 | g.60852868A>G | CA371324314 | CHD7 | c.6143A>G (p.Glu2048Gly) c.1717-9361A>G (n.1717-9361A>G) c.6233A>G (p.Glu2078Gly) c.4220A>G (p.Glu1407Gly) c.3770A>G (p.Glu1257Gly) c.2978A>G (p.Glu993Gly) | |
| 8 | g.60852868A>T | CA371324315 | CHD7 | c.6143A>T (p.Glu2048Val) c.1717-9361A>T (n.1717-9361A>T) c.6233A>T (p.Glu2078Val) c.4220A>T (p.Glu1407Val) c.3770A>T (p.Glu1257Val) c.2978A>T (p.Glu993Val) | |
| 8 | g.60852869G>A | CA461104924 | CHD7 | c.6144G>A (p.Glu2048=) c.1717-9360G>A (n.1717-9360G>A) c.6234G>A (p.Glu2078=) c.4221G>A (p.Glu1407=) c.3771G>A (p.Glu1257=) c.2979G>A (p.Glu993=) | |
| 8 | g.60852869G>C | CA371324316 | CHD7 | c.6144G>C (p.Glu2048Asp) c.1717-9360G>C (n.1717-9360G>C) c.6234G>C (p.Glu2078Asp) c.4221G>C (p.Glu1407Asp) c.3771G>C (p.Glu1257Asp) c.2979G>C (p.Glu993Asp) | |
| 8 | g.60852869G>T | CA371324317 | CHD7 | c.6144G>T (p.Glu2048Asp) c.1717-9360G>T (n.1717-9360G>T) c.6234G>T (p.Glu2078Asp) c.4221G>T (p.Glu1407Asp) c.3771G>T (p.Glu1257Asp) c.2979G>T (p.Glu993Asp) | |
| 8 | g.60852870G>A | CA371324318 | CHD7 | c.6145G>A (p.Glu2049Lys) c.1717-9359G>A (n.1717-9359G>A) c.6235G>A (p.Glu2079Lys) c.4222G>A (p.Glu1408Lys) c.3772G>A (p.Glu1258Lys) c.2980G>A (p.Glu994Lys) | |
| 8 | g.60852870G>C | CA371324319 | CHD7 | c.6145G>C (p.Glu2049Gln) c.1717-9359G>C (n.1717-9359G>C) c.6235G>C (p.Glu2079Gln) c.4222G>C (p.Glu1408Gln) c.3772G>C (p.Glu1258Gln) c.2980G>C (p.Glu994Gln) | |
| 8 | g.60852870G>T | CA371324320 | CHD7 | c.6145G>T (p.Glu2049Ter) c.1717-9359G>T (n.1717-9359G>T) c.6235G>T (p.Glu2079Ter) c.4222G>T (p.Glu1408Ter) c.3772G>T (p.Glu1258Ter) c.2980G>T (p.Glu994Ter) | |
| 8 | g.60852871A>C | CA371324323 | CHD7 | c.6146A>C (p.Glu2049Ala) c.1717-9358A>C (n.1717-9358A>C) c.6236A>C (p.Glu2079Ala) c.4223A>C (p.Glu1408Ala) c.3773A>C (p.Glu1258Ala) c.2981A>C (p.Glu994Ala) | |
| 8 | g.60852871A>G | CA371324322 | CHD7 | c.6146A>G (p.Glu2049Gly) c.1717-9358A>G (n.1717-9358A>G) c.6236A>G (p.Glu2079Gly) c.4223A>G (p.Glu1408Gly) c.3773A>G (p.Glu1258Gly) c.2981A>G (p.Glu994Gly) | |
| 8 | g.60852871A>T | CA371324321 | CHD7 | c.6146A>T (p.Glu2049Val) c.1717-9358A>T (n.1717-9358A>T) c.6236A>T (p.Glu2079Val) c.4223A>T (p.Glu1408Val) c.3773A>T (p.Glu1258Val) c.2981A>T (p.Glu994Val) | |
| 8 | g.60852872G>A | CA461104925 | CHD7 | c.6147G>A (p.Glu2049=) c.1717-9357G>A (n.1717-9357G>A) c.6237G>A (p.Glu2079=) c.4224G>A (p.Glu1408=) c.3774G>A (p.Glu1258=) c.2982G>A (p.Glu994=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852872G>C | CA371324324 | CHD7 | c.6147G>C (p.Glu2049Asp) c.1717-9357G>C (n.1717-9357G>C) c.6237G>C (p.Glu2079Asp) c.4224G>C (p.Glu1408Asp) c.3774G>C (p.Glu1258Asp) c.2982G>C (p.Glu994Asp) | |
| 8 | g.60852872G>T | CA371324325 | CHD7 | c.6147G>T (p.Glu2049Asp) c.1717-9357G>T (n.1717-9357G>T) c.6237G>T (p.Glu2079Asp) c.4224G>T (p.Glu1408Asp) c.3774G>T (p.Glu1258Asp) c.2982G>T (p.Glu994Asp) | |
| 8 | g.60852873C>A | CA461104927 | CHD7 | c.6148C>A (p.Arg2050=) c.1717-9356C>A (n.1717-9356C>A) c.6238C>A (p.Arg2080=) c.4225C>A (p.Arg1409=) c.3775C>A (p.Arg1259=) c.2983C>A (p.Arg995=) | gnomAD v4 |
| 8 | g.60852873C= | CA1788102512 | CHD7 | c.6148C= (p.Arg2050=) c.1717-9356C= (n.1717-9356C=) c.6238C= (p.Arg2080=) c.4225C= (p.Arg1409=) c.3775C= (p.Arg1259=) c.2983C= (p.Arg995=) | |
| 8 | g.60852873C>G | CA371324326 | CHD7 | c.6148C>G (p.Arg2050Gly) c.1717-9356C>G (n.1717-9356C>G) c.6238C>G (p.Arg2080Gly) c.4225C>G (p.Arg1409Gly) c.3775C>G (p.Arg1259Gly) c.2983C>G (p.Arg995Gly) | |
| 8 | g.60852873C>T | CA10602503 | CHD7 | c.6148C>T (p.Arg2050Ter) c.1717-9356C>T (n.1717-9356C>T) c.6238C>T (p.Arg2080Ter) c.4225C>T (p.Arg1409Ter) c.3775C>T (p.Arg1259Ter) c.2983C>T (p.Arg995Ter) | ClinVar dbSNP |
| 8 | g.60852874G>A | CA371324327 | CHD7 | c.6149G>A (p.Arg2050Gln) c.1717-9355G>A (n.1717-9355G>A) c.6239G>A (p.Arg2080Gln) c.4226G>A (p.Arg1409Gln) c.3776G>A (p.Arg1259Gln) c.2984G>A (p.Arg995Gln) | gnomAD v4 |
| 8 | g.60852874G>C | CA371324328 | CHD7 | c.6149G>C (p.Arg2050Pro) c.1717-9355G>C (n.1717-9355G>C) c.6239G>C (p.Arg2080Pro) c.4226G>C (p.Arg1409Pro) c.3776G>C (p.Arg1259Pro) c.2984G>C (p.Arg995Pro) | |
| 8 | g.60852874G>T | CA371324329 | CHD7 | c.6149G>T (p.Arg2050Leu) c.1717-9355G>T (n.1717-9355G>T) c.6239G>T (p.Arg2080Leu) c.4226G>T (p.Arg1409Leu) c.3776G>T (p.Arg1259Leu) c.2984G>T (p.Arg995Leu) | |
| 8 | g.60852875A>C | CA461104928 | CHD7 | c.6150A>C (p.Arg2050=) c.1717-9354A>C (n.1717-9354A>C) c.6240A>C (p.Arg2080=) c.4227A>C (p.Arg1409=) c.3777A>C (p.Arg1259=) c.2985A>C (p.Arg995=) | gnomAD v4 |
| 8 | g.60852875A>G | CA461104929 | CHD7 | c.6150A>G (p.Arg2050=) c.1717-9354A>G (n.1717-9354A>G) c.6240A>G (p.Arg2080=) c.4227A>G (p.Arg1409=) c.3777A>G (p.Arg1259=) c.2985A>G (p.Arg995=) | |
| 8 | g.60852875A>T | CA461104930 | CHD7 | c.6150A>T (p.Arg2050=) c.1717-9354A>T (n.1717-9354A>T) c.6240A>T (p.Arg2080=) c.4227A>T (p.Arg1409=) c.3777A>T (p.Arg1259=) c.2985A>T (p.Arg995=) | gnomAD v4 |
| 8 | g.60852876G>A | CA371324330 | CHD7 | c.6151G>A (p.Ala2051Thr) c.1717-9353G>A (n.1717-9353G>A) c.6241G>A (p.Ala2081Thr) c.4228G>A (p.Ala1410Thr) c.3778G>A (p.Ala1260Thr) c.2986G>A (p.Ala996Thr) | |
| 8 | g.60852876G>C | CA371324332 | CHD7 | c.6151G>C (p.Ala2051Pro) c.1717-9353G>C (n.1717-9353G>C) c.6241G>C (p.Ala2081Pro) c.4228G>C (p.Ala1410Pro) c.3778G>C (p.Ala1260Pro) c.2986G>C (p.Ala996Pro) | |
| 8 | g.60852876G>T | CA371324331 | CHD7 | c.6151G>T (p.Ala2051Ser) c.1717-9353G>T (n.1717-9353G>T) c.6241G>T (p.Ala2081Ser) c.4228G>T (p.Ala1410Ser) c.3778G>T (p.Ala1260Ser) c.2986G>T (p.Ala996Ser) | |
| 8 | g.60852877C>A | CA371324333 | CHD7 | c.6152C>A (p.Ala2051Asp) c.1717-9352C>A (n.1717-9352C>A) c.6242C>A (p.Ala2081Asp) c.4229C>A (p.Ala1410Asp) c.3779C>A (p.Ala1260Asp) c.2987C>A (p.Ala996Asp) | |
| 8 | g.60852877C>G | CA371324334 | CHD7 | c.6152C>G (p.Ala2051Gly) c.1717-9352C>G (n.1717-9352C>G) c.6242C>G (p.Ala2081Gly) c.4229C>G (p.Ala1410Gly) c.3779C>G (p.Ala1260Gly) c.2987C>G (p.Ala996Gly) | |
| 8 | g.60852877C>T | CA371324335 | CHD7 | c.6152C>T (p.Ala2051Val) c.1717-9352C>T (n.1717-9352C>T) c.6242C>T (p.Ala2081Val) c.4229C>T (p.Ala1410Val) c.3779C>T (p.Ala1260Val) c.2987C>T (p.Ala996Val) | |
| 8 | g.60852878C>A | CA461104932 | CHD7 | c.6153C>A (p.Ala2051=) c.1717-9351C>A (n.1717-9351C>A) c.6243C>A (p.Ala2081=) c.4230C>A (p.Ala1410=) c.3780C>A (p.Ala1260=) c.2988C>A (p.Ala996=) | |
| 8 | g.60852878C= | CA1788102521 | CHD7 | c.6153C= (p.Ala2051=) c.1717-9351C= (n.1717-9351C=) c.6243C= (p.Ala2081=) c.4230C= (p.Ala1410=) c.3780C= (p.Ala1260=) c.2988C= (p.Ala996=) | |
| 8 | g.60852878C>G | CA461104933 | CHD7 | c.6153C>G (p.Ala2051=) c.1717-9351C>G (n.1717-9351C>G) c.6243C>G (p.Ala2081=) c.4230C>G (p.Ala1410=) c.3780C>G (p.Ala1260=) c.2988C>G (p.Ala996=) | |
| 8 | g.60852878C>T | CA4760542 | CHD7 | c.6153C>T (p.Ala2051=) c.1717-9351C>T (n.1717-9351C>T) c.6243C>T (p.Ala2081=) c.4230C>T (p.Ala1410=) c.3780C>T (p.Ala1260=) c.2988C>T (p.Ala996=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852879T>A | CA371324336 | CHD7 | c.6154T>A (p.Ser2052Thr) c.1717-9350T>A (n.1717-9350T>A) c.6244T>A (p.Ser2082Thr) c.4231T>A (p.Ser1411Thr) c.3781T>A (p.Ser1261Thr) c.2989T>A (p.Ser997Thr) | |
| 8 | g.60852879T>C | CA371324338 | CHD7 | c.6154T>C (p.Ser2052Pro) c.1717-9350T>C (n.1717-9350T>C) c.6244T>C (p.Ser2082Pro) c.4231T>C (p.Ser1411Pro) c.3781T>C (p.Ser1261Pro) c.2989T>C (p.Ser997Pro) | |
| 8 | g.60852879T>G | CA371324337 | CHD7 | c.6154T>G (p.Ser2052Ala) c.1717-9350T>G (n.1717-9350T>G) c.6244T>G (p.Ser2082Ala) c.4231T>G (p.Ser1411Ala) c.3781T>G (p.Ser1261Ala) c.2989T>G (p.Ser997Ala) | |
| 8 | g.60852880C>A | CA371324339 | CHD7 | c.6155C>A (p.Ser2052Tyr) c.1717-9349C>A (n.1717-9349C>A) c.6245C>A (p.Ser2082Tyr) c.4232C>A (p.Ser1411Tyr) c.3782C>A (p.Ser1261Tyr) c.2990C>A (p.Ser997Tyr) | |
| 8 | g.60852880C= | CA1788102526 | CHD7 | c.6155C= (p.Ser2052=) c.1717-9349C= (n.1717-9349C=) c.6245C= (p.Ser2082=) c.4232C= (p.Ser1411=) c.3782C= (p.Ser1261=) c.2990C= (p.Ser997=) | |
| 8 | g.60852880C>G | CA371324340 | CHD7 | c.6155C>G (p.Ser2052Cys) c.1717-9349C>G (n.1717-9349C>G) c.6245C>G (p.Ser2082Cys) c.4232C>G (p.Ser1411Cys) c.3782C>G (p.Ser1261Cys) c.2990C>G (p.Ser997Cys) | |
| 8 | g.60852880C>T | CA371324341 | CHD7 | c.6155C>T (p.Ser2052Phe) c.1717-9349C>T (n.1717-9349C>T) c.6245C>T (p.Ser2082Phe) c.4232C>T (p.Ser1411Phe) c.3782C>T (p.Ser1261Phe) c.2990C>T (p.Ser997Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852880_60852882delinsAGA | CA2695209408 | CHD7 | c.6155_6157delinsAGA (p.Ser2052Ter) c.1717-9349_1717-9347delinsAGA (n.1717-9349_1717-9347delinsAGA) c.6245_6247delinsAGA (p.Ser2082Ter) c.4232_4234delinsAGA (p.Ser1411Ter) c.3782_3784delinsAGA (p.Ser1261Ter) c.2990_2992delinsAGA (p.Ser997Ter) | |
| 8 | g.60852881T>A | CA461104937 | CHD7 | c.6156T>A (p.Ser2052=) c.1717-9348T>A (n.1717-9348T>A) c.6246T>A (p.Ser2082=) c.4233T>A (p.Ser1411=) c.3783T>A (p.Ser1261=) c.2991T>A (p.Ser997=) | |
| 8 | g.60852881T>C | CA461104938 | CHD7 | c.6156T>C (p.Ser2052=) c.1717-9348T>C (n.1717-9348T>C) c.6246T>C (p.Ser2082=) c.4233T>C (p.Ser1411=) c.3783T>C (p.Ser1261=) c.2991T>C (p.Ser997=) | |
| 8 | g.60852881T>G | CA461104939 | CHD7 | c.6156T>G (p.Ser2052=) c.1717-9348T>G (n.1717-9348T>G) c.6246T>G (p.Ser2082=) c.4233T>G (p.Ser1411=) c.3783T>G (p.Ser1261=) c.2991T>G (p.Ser997=) | |
| 8 | g.60852882C>A | CA461104941 | CHD7 | c.6157C>A (p.Arg2053=) c.1717-9347C>A (n.1717-9347C>A) c.6247C>A (p.Arg2083=) c.4234C>A (p.Arg1412=) c.3784C>A (p.Arg1262=) c.2992C>A (p.Arg998=) | |
| 8 | g.60852882C= | CA1788102532 | CHD7 | c.6157C= (p.Arg2053=) c.1717-9347C= (n.1717-9347C=) c.6247C= (p.Arg2083=) c.4234C= (p.Arg1412=) c.3784C= (p.Arg1262=) c.2992C= (p.Arg998=) | |
| 8 | g.60852882C>G | CA371324342 | CHD7 | c.6157C>G (p.Arg2053Gly) c.1717-9347C>G (n.1717-9347C>G) c.6247C>G (p.Arg2083Gly) c.4234C>G (p.Arg1412Gly) c.3784C>G (p.Arg1262Gly) c.2992C>G (p.Arg998Gly) | |
| 8 | g.60852882C>T | CA271322 | CHD7 | c.6157C>T (p.Arg2053Ter) c.1717-9347C>T (n.1717-9347C>T) c.6247C>T (p.Arg2083Ter) c.4234C>T (p.Arg1412Ter) c.3784C>T (p.Arg1262Ter) c.2992C>T (p.Arg998Ter) | ClinVar dbSNP |
| 8 | g.60852883G>A | CA371324343 | CHD7 | c.6158G>A (p.Arg2053Gln) c.1717-9346G>A (n.1717-9346G>A) c.6248G>A (p.Arg2083Gln) c.4235G>A (p.Arg1412Gln) c.3785G>A (p.Arg1262Gln) c.2993G>A (p.Arg998Gln) | dbSNP gnomAD v4 COSMIC |
| 8 | g.60852883G>C | CA371324344 | CHD7 | c.6158G>C (p.Arg2053Pro) c.1717-9346G>C (n.1717-9346G>C) c.6248G>C (p.Arg2083Pro) c.4235G>C (p.Arg1412Pro) c.3785G>C (p.Arg1262Pro) c.2993G>C (p.Arg998Pro) | |
| 8 | g.60852883G= | CA1788102553 | CHD7 | c.6158G= (p.Arg2053=) c.1717-9346G= (n.1717-9346G=) c.6248G= (p.Arg2083=) c.4235G= (p.Arg1412=) c.3785G= (p.Arg1262=) c.2993G= (p.Arg998=) | |
| 8 | g.60852883G>T | CA371324345 | CHD7 | c.6158G>T (p.Arg2053Leu) c.1717-9346G>T (n.1717-9346G>T) c.6248G>T (p.Arg2083Leu) c.4235G>T (p.Arg1412Leu) c.3785G>T (p.Arg1262Leu) c.2993G>T (p.Arg998Leu) | |
| 8 | g.60852884A>C | CA461104944 | CHD7 | c.6159A>C (p.Arg2053=) c.1717-9345A>C (n.1717-9345A>C) c.6249A>C (p.Arg2083=) c.4236A>C (p.Arg1412=) c.3786A>C (p.Arg1262=) c.2994A>C (p.Arg998=) | |
| 8 | g.60852884A>G | CA461104945 | CHD7 | c.6159A>G (p.Arg2053=) c.1717-9345A>G (n.1717-9345A>G) c.6249A>G (p.Arg2083=) c.4236A>G (p.Arg1412=) c.3786A>G (p.Arg1262=) c.2994A>G (p.Arg998=) | |
| 8 | g.60852884A>T | CA461104946 | CHD7 | c.6159A>T (p.Arg2053=) c.1717-9345A>T (n.1717-9345A>T) c.6249A>T (p.Arg2083=) c.4236A>T (p.Arg1412=) c.3786A>T (p.Arg1262=) c.2994A>T (p.Arg998=) | |
| 8 | g.60852885A>C | CA371324346 | CHD7 | c.6160A>C (p.Thr2054Pro) c.1717-9344A>C (n.1717-9344A>C) c.6250A>C (p.Thr2084Pro) c.4237A>C (p.Thr1413Pro) c.3787A>C (p.Thr1263Pro) c.2995A>C (p.Thr999Pro) | |
| 8 | g.60852885A>G | CA371324347 | CHD7 | c.6160A>G (p.Thr2054Ala) c.1717-9344A>G (n.1717-9344A>G) c.6250A>G (p.Thr2084Ala) c.4237A>G (p.Thr1413Ala) c.3787A>G (p.Thr1263Ala) c.2995A>G (p.Thr999Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852885A>T | CA371324348 | CHD7 | c.6160A>T (p.Thr2054Ser) c.1717-9344A>T (n.1717-9344A>T) c.6250A>T (p.Thr2084Ser) c.4237A>T (p.Thr1413Ser) c.3787A>T (p.Thr1263Ser) c.2995A>T (p.Thr999Ser) | gnomAD v4 |
| 8 | g.60852885_60852887delinsACT | CA1788102558 | CHD7 | c.6160_6162delinsACT (p.Thr2054=) c.1717-9344_1717-9342delinsACT (n.1717-9344_1717-9342delinsACT) c.6250_6252delinsACT (p.Thr2084=) c.4237_4239delinsACT (p.Thr1413=) c.3787_3789delinsACT (p.Thr1263=) c.2995_2997delinsACT (p.Thr999=) | |
| 8 | g.60852886C>A | CA371324350 | CHD7 | c.6161C>A (p.Thr2054Asn) c.1717-9343C>A (n.1717-9343C>A) c.6251C>A (p.Thr2084Asn) c.4238C>A (p.Thr1413Asn) c.3788C>A (p.Thr1263Asn) c.2996C>A (p.Thr999Asn) | |
| 8 | g.60852886C>G | CA371324351 | CHD7 | c.6161C>G (p.Thr2054Ser) c.1717-9343C>G (n.1717-9343C>G) c.6251C>G (p.Thr2084Ser) c.4238C>G (p.Thr1413Ser) c.3788C>G (p.Thr1263Ser) c.2996C>G (p.Thr999Ser) | |
| 8 | g.60852886C>T | CA371324349 | CHD7 | c.6161C>T (p.Thr2054Ile) c.1717-9343C>T (n.1717-9343C>T) c.6251C>T (p.Thr2084Ile) c.4238C>T (p.Thr1413Ile) c.3788C>T (p.Thr1263Ile) c.2996C>T (p.Thr999Ile) | |
| 8 | g.60852888_60852889del | CA16612522 | CHD7 | c.6163_6164del (p.Leu2055ValfsTer4) c.1717-9341_1717-9340del (n.1717-9341_1717-9340del) c.6253_6254del (p.Leu2085ValfsTer4) c.4240_4241del (p.Leu1414ValfsTer4) c.3790_3791del (p.Leu1264ValfsTer4) c.2998_2999del (p.Leu1000ValfsTer4) | ClinVar dbSNP |
| 8 | g.60852887T>A | CA461104952 | CHD7 | c.6162T>A (p.Thr2054=) c.1717-9342T>A (n.1717-9342T>A) c.6252T>A (p.Thr2084=) c.4239T>A (p.Thr1413=) c.3789T>A (p.Thr1263=) c.2997T>A (p.Thr999=) | |
| 8 | g.60852887T>C | CA461104951 | CHD7 | c.6162T>C (p.Thr2054=) c.1717-9342T>C (n.1717-9342T>C) c.6252T>C (p.Thr2084=) c.4239T>C (p.Thr1413=) c.3789T>C (p.Thr1263=) c.2997T>C (p.Thr999=) | |
| 8 | g.60852887T>G | CA461104950 | CHD7 | c.6162T>G (p.Thr2054=) c.1717-9342T>G (n.1717-9342T>G) c.6252T>G (p.Thr2084=) c.4239T>G (p.Thr1413=) c.3789T>G (p.Thr1263=) c.2997T>G (p.Thr999=) | |
| 8 | g.60852888C>A | CA371324353 | CHD7 | c.6163C>A (p.Leu2055Met) c.1717-9341C>A (n.1717-9341C>A) c.6253C>A (p.Leu2085Met) c.4240C>A (p.Leu1414Met) c.3790C>A (p.Leu1264Met) c.2998C>A (p.Leu1000Met) | COSMIC |
| 8 | g.60852888C= | CA1788102581 | CHD7 | c.6163C= (p.Leu2055=) c.1717-9341C= (n.1717-9341C=) c.6253C= (p.Leu2085=) c.4240C= (p.Leu1414=) c.3790C= (p.Leu1264=) c.2998C= (p.Leu1000=) | |
| 8 | g.60852888C>G | CA371324352 | CHD7 | c.6163C>G (p.Leu2055Val) c.1717-9341C>G (n.1717-9341C>G) c.6253C>G (p.Leu2085Val) c.4240C>G (p.Leu1414Val) c.3790C>G (p.Leu1264Val) c.2998C>G (p.Leu1000Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852888C>T | CA461104954 | CHD7 | c.6163C>T (p.Leu2055=) c.1717-9341C>T (n.1717-9341C>T) c.6253C>T (p.Leu2085=) c.4240C>T (p.Leu1414=) c.3790C>T (p.Leu1264=) c.2998C>T (p.Leu1000=) | |
| 8 | g.60852888_60852890delinsCTG | CA1788102578 | CHD7 | c.6163_6165delinsCTG (p.Leu2055=) c.1717-9341_1717-9339delinsCTG (n.1717-9341_1717-9339delinsCTG) c.6253_6255delinsCTG (p.Leu2085=) c.4240_4242delinsCTG (p.Leu1414=) c.3790_3792delinsCTG (p.Leu1264=) c.2998_3000delinsCTG (p.Leu1000=) | |
| 8 | g.60852889T>A | CA371324356 | CHD7 | c.6164T>A (p.Leu2055Gln) c.1717-9340T>A (n.1717-9340T>A) c.6254T>A (p.Leu2085Gln) c.4241T>A (p.Leu1414Gln) c.3791T>A (p.Leu1264Gln) c.2999T>A (p.Leu1000Gln) | |
| 8 | g.60852889T>C | CA371324354 | CHD7 | c.6164T>C (p.Leu2055Pro) c.1717-9340T>C (n.1717-9340T>C) c.6254T>C (p.Leu2085Pro) c.4241T>C (p.Leu1414Pro) c.3791T>C (p.Leu1264Pro) c.2999T>C (p.Leu1000Pro) | gnomAD v4 |
| 8 | g.60852889T>G | CA371324355 | CHD7 | c.6164T>G (p.Leu2055Arg) c.1717-9340T>G (n.1717-9340T>G) c.6254T>G (p.Leu2085Arg) c.4241T>G (p.Leu1414Arg) c.3791T>G (p.Leu1264Arg) c.2999T>G (p.Leu1000Arg) | |
| 8 | g.60852890_60852891del | CA10588459 | CHD7 | c.6165_6166del (p.Tyr2056ProfsTer3) c.1717-9339_1717-9338del (n.1717-9339_1717-9338del) c.6255_6256del (p.Tyr2086ProfsTer3) c.4242_4243del (p.Tyr1415ProfsTer3) c.3792_3793del (p.Tyr1265ProfsTer3) c.3000_3001del (p.Tyr1001ProfsTer3) | ClinVar dbSNP |
| 8 | g.60852890G>A | CA461104957 | CHD7 | c.6165G>A (p.Leu2055=) c.1717-9339G>A (n.1717-9339G>A) c.6255G>A (p.Leu2085=) c.4242G>A (p.Leu1414=) c.3792G>A (p.Leu1264=) c.3000G>A (p.Leu1000=) | |
| 8 | g.60852890G>C | CA461104958 | CHD7 | c.6165G>C (p.Leu2055=) c.1717-9339G>C (n.1717-9339G>C) c.6255G>C (p.Leu2085=) c.4242G>C (p.Leu1414=) c.3792G>C (p.Leu1264=) c.3000G>C (p.Leu1000=) | |
| 8 | g.60852890G>T | CA461104959 | CHD7 | c.6165G>T (p.Leu2055=) c.1717-9339G>T (n.1717-9339G>T) c.6255G>T (p.Leu2085=) c.4242G>T (p.Leu1414=) c.3792G>T (p.Leu1264=) c.3000G>T (p.Leu1000=) | |
| 8 | g.60852891T>A | CA371324357 | CHD7 | c.6166T>A (p.Tyr2056Asn) c.1717-9338T>A (n.1717-9338T>A) c.6256T>A (p.Tyr2086Asn) c.4243T>A (p.Tyr1415Asn) c.3793T>A (p.Tyr1265Asn) c.3001T>A (p.Tyr1001Asn) | |
| 8 | g.60852891T>C | CA371324358 | CHD7 | c.6166T>C (p.Tyr2056His) c.1717-9338T>C (n.1717-9338T>C) c.6256T>C (p.Tyr2086His) c.4243T>C (p.Tyr1415His) c.3793T>C (p.Tyr1265His) c.3001T>C (p.Tyr1001His) | ClinVar gnomAD v4 |
| 8 | g.60852891T>G | CA371324359 | CHD7 | c.6166T>G (p.Tyr2056Asp) c.1717-9338T>G (n.1717-9338T>G) c.6256T>G (p.Tyr2086Asp) c.4243T>G (p.Tyr1415Asp) c.3793T>G (p.Tyr1265Asp) c.3001T>G (p.Tyr1001Asp) | |
| 8 | g.60852892A= | CA1788102598 | CHD7 | c.6167A= (p.Tyr2056=) c.1717-9337A= (n.1717-9337A=) c.6257A= (p.Tyr2086=) c.4244A= (p.Tyr1415=) c.3794A= (p.Tyr1265=) c.3002A= (p.Tyr1001=) | |
| 8 | g.60852892A>C | CA371324360 | CHD7 | c.6167A>C (p.Tyr2056Ser) c.1717-9337A>C (n.1717-9337A>C) c.6257A>C (p.Tyr2086Ser) c.4244A>C (p.Tyr1415Ser) c.3794A>C (p.Tyr1265Ser) c.3002A>C (p.Tyr1001Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852892A>G | CA371324361 | CHD7 | c.6167A>G (p.Tyr2056Cys) c.1717-9337A>G (n.1717-9337A>G) c.6257A>G (p.Tyr2086Cys) c.4244A>G (p.Tyr1415Cys) c.3794A>G (p.Tyr1265Cys) c.3002A>G (p.Tyr1001Cys) | |
| 8 | g.60852892A>T | CA371324362 | CHD7 | c.6167A>T (p.Tyr2056Phe) c.1717-9337A>T (n.1717-9337A>T) c.6257A>T (p.Tyr2086Phe) c.4244A>T (p.Tyr1415Phe) c.3794A>T (p.Tyr1265Phe) c.3002A>T (p.Tyr1001Phe) | |
| 8 | g.60852893C>A | CA371324363 | CHD7 | c.6168C>A (p.Tyr2056Ter) c.1717-9336C>A (n.1717-9336C>A) c.6258C>A (p.Tyr2086Ter) c.4245C>A (p.Tyr1415Ter) c.3795C>A (p.Tyr1265Ter) c.3003C>A (p.Tyr1001Ter) | |
| 8 | g.60852893C= | CA1788102610 | CHD7 | c.6168C= (p.Tyr2056=) c.1717-9336C= (n.1717-9336C=) c.6258C= (p.Tyr2086=) c.4245C= (p.Tyr1415=) c.3795C= (p.Tyr1265=) c.3003C= (p.Tyr1001=) | |
| 8 | g.60852893C>G | CA371324364 | CHD7 | c.6168C>G (p.Tyr2056Ter) c.1717-9336C>G (n.1717-9336C>G) c.6258C>G (p.Tyr2086Ter) c.4245C>G (p.Tyr1415Ter) c.3795C>G (p.Tyr1265Ter) c.3003C>G (p.Tyr1001Ter) | |
| 8 | g.60852893C>T | CA4760543 | CHD7 | c.6168C>T (p.Tyr2056=) c.1717-9336C>T (n.1717-9336C>T) c.6258C>T (p.Tyr2086=) c.4245C>T (p.Tyr1415=) c.3795C>T (p.Tyr1265=) c.3003C>T (p.Tyr1001=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852894dup | CA2695209409 | CHD7 | c.6169dup (p.Arg2057ProfsTer3) c.1717-9335dup (n.1717-9335dup) c.6259dup (p.Arg2087ProfsTer3) c.4246dup (p.Arg1416ProfsTer3) c.3796dup (p.Arg1266ProfsTer3) c.3004dup (p.Arg1002ProfsTer3) | |
| 8 | g.60852894C>A | CA371324365 | CHD7 | c.6169C>A (p.Arg2057Ser) c.1717-9335C>A (n.1717-9335C>A) c.6259C>A (p.Arg2087Ser) c.4246C>A (p.Arg1416Ser) c.3796C>A (p.Arg1266Ser) c.3004C>A (p.Arg1002Ser) | COSMIC |
| 8 | g.60852894C= | CA1788102615 | CHD7 | c.6169C= (p.Arg2057=) c.1717-9335C= (n.1717-9335C=) c.6259C= (p.Arg2087=) c.4246C= (p.Arg1416=) c.3796C= (p.Arg1266=) c.3004C= (p.Arg1002=) | |
| 8 | g.60852894C>G | CA371324366 | CHD7 | c.6169C>G (p.Arg2057Gly) c.1717-9335C>G (n.1717-9335C>G) c.6259C>G (p.Arg2087Gly) c.4246C>G (p.Arg1416Gly) c.3796C>G (p.Arg1266Gly) c.3004C>G (p.Arg1002Gly) | |
| 8 | g.60852894C>T | CA4760544 | CHD7 | c.6169C>T (p.Arg2057Cys) c.1717-9335C>T (n.1717-9335C>T) c.6259C>T (p.Arg2087Cys) c.4246C>T (p.Arg1416Cys) c.3796C>T (p.Arg1266Cys) c.3004C>T (p.Arg1002Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852895G>A | CA371324367 | CHD7 | c.6170G>A (p.Arg2057His) c.1717-9334G>A (n.1717-9334G>A) c.6260G>A (p.Arg2087His) c.4247G>A (p.Arg1416His) c.3797G>A (p.Arg1266His) c.3005G>A (p.Arg1002His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852895G>C | CA371324368 | CHD7 | c.6170G>C (p.Arg2057Pro) c.1717-9334G>C (n.1717-9334G>C) c.6260G>C (p.Arg2087Pro) c.4247G>C (p.Arg1416Pro) c.3797G>C (p.Arg1266Pro) c.3005G>C (p.Arg1002Pro) | |
| 8 | g.60852895G= | CA1788102635 | CHD7 | c.6170G= (p.Arg2057=) c.1717-9334G= (n.1717-9334G=) c.6260G= (p.Arg2087=) c.4247G= (p.Arg1416=) c.3797G= (p.Arg1266=) c.3005G= (p.Arg1002=) | |
| 8 | g.60852895G>T | CA371324369 | CHD7 | c.6170G>T (p.Arg2057Leu) c.1717-9334G>T (n.1717-9334G>T) c.6260G>T (p.Arg2087Leu) c.4247G>T (p.Arg1416Leu) c.3797G>T (p.Arg1266Leu) c.3005G>T (p.Arg1002Leu) | dbSNP gnomAD v4 |
| 8 | g.60852896C>A | CA461104964 | CHD7 | c.6171C>A (p.Arg2057=) c.1717-9333C>A (n.1717-9333C>A) c.6261C>A (p.Arg2087=) c.4248C>A (p.Arg1416=) c.3798C>A (p.Arg1266=) c.3006C>A (p.Arg1002=) | dbSNP |
| 8 | g.60852896C= | CA1788102644 | CHD7 | c.6171C= (p.Arg2057=) c.1717-9333C= (n.1717-9333C=) c.6261C= (p.Arg2087=) c.4248C= (p.Arg1416=) c.3798C= (p.Arg1266=) c.3006C= (p.Arg1002=) | |
| 8 | g.60852896C>G | CA461104965 | CHD7 | c.6171C>G (p.Arg2057=) c.1717-9333C>G (n.1717-9333C>G) c.6261C>G (p.Arg2087=) c.4248C>G (p.Arg1416=) c.3798C>G (p.Arg1266=) c.3006C>G (p.Arg1002=) | |
| 8 | g.60852896C>T | CA461104966 | CHD7 | c.6171C>T (p.Arg2057=) c.1717-9333C>T (n.1717-9333C>T) c.6261C>T (p.Arg2087=) c.4248C>T (p.Arg1416=) c.3798C>T (p.Arg1266=) c.3006C>T (p.Arg1002=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852897A= | CA1788102659 | CHD7 | c.6172A= (p.Ile2058=) c.1717-9332A= (n.1717-9332A=) c.6262A= (p.Ile2088=) c.4249A= (p.Ile1417=) c.3799A= (p.Ile1267=) c.3007A= (p.Ile1003=) | |
| 8 | g.60852897A>C | CA371324370 | CHD7 | c.6172A>C (p.Ile2058Leu) c.1717-9332A>C (n.1717-9332A>C) c.6262A>C (p.Ile2088Leu) c.4249A>C (p.Ile1417Leu) c.3799A>C (p.Ile1267Leu) c.3007A>C (p.Ile1003Leu) | gnomAD v4 |
| 8 | g.60852897A>G | CA371324371 | CHD7 | c.6172A>G (p.Ile2058Val) c.1717-9332A>G (n.1717-9332A>G) c.6262A>G (p.Ile2088Val) c.4249A>G (p.Ile1417Val) c.3799A>G (p.Ile1267Val) c.3007A>G (p.Ile1003Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852897A>T | CA371324372 | CHD7 | c.6172A>T (p.Ile2058Phe) c.1717-9332A>T (n.1717-9332A>T) c.6262A>T (p.Ile2088Phe) c.4249A>T (p.Ile1417Phe) c.3799A>T (p.Ile1267Phe) c.3007A>T (p.Ile1003Phe) | |
| 8 | g.60852898T>A | CA371324373 | CHD7 | c.6173T>A (p.Ile2058Asn) c.1717-9331T>A (n.1717-9331T>A) c.6263T>A (p.Ile2088Asn) c.4250T>A (p.Ile1417Asn) c.3800T>A (p.Ile1267Asn) c.3008T>A (p.Ile1003Asn) | |
| 8 | g.60852898T>C | CA371324374 | CHD7 | c.6173T>C (p.Ile2058Thr) c.1717-9331T>C (n.1717-9331T>C) c.6263T>C (p.Ile2088Thr) c.4250T>C (p.Ile1417Thr) c.3800T>C (p.Ile1267Thr) c.3008T>C (p.Ile1003Thr) | gnomAD v4 |
| 8 | g.60852898T>G | CA371324375 | CHD7 | c.6173T>G (p.Ile2058Ser) c.1717-9331T>G (n.1717-9331T>G) c.6263T>G (p.Ile2088Ser) c.4250T>G (p.Ile1417Ser) c.3800T>G (p.Ile1267Ser) c.3008T>G (p.Ile1003Ser) | COSMIC |
| 8 | g.60852899T>A | CA461104967 | CHD7 | c.6174T>A (p.Ile2058=) c.1717-9330T>A (n.1717-9330T>A) c.6264T>A (p.Ile2088=) c.4251T>A (p.Ile1417=) c.3801T>A (p.Ile1267=) c.3009T>A (p.Ile1003=) | |
| 8 | g.60852899T>C | CA461104968 | CHD7 | c.6174T>C (p.Ile2058=) c.1717-9330T>C (n.1717-9330T>C) c.6264T>C (p.Ile2088=) c.4251T>C (p.Ile1417=) c.3801T>C (p.Ile1267=) c.3009T>C (p.Ile1003=) | |
| 8 | g.60852899T>G | CA371324376 | CHD7 | c.6174T>G (p.Ile2058Met) c.1717-9330T>G (n.1717-9330T>G) c.6264T>G (p.Ile2088Met) c.4251T>G (p.Ile1417Met) c.3801T>G (p.Ile1267Met) c.3009T>G (p.Ile1003Met) | |
| 8 | g.60852900G>A | CA371324377 | CHD7 | c.6175G>A (p.Glu2059Lys) c.1717-9329G>A (n.1717-9329G>A) c.6265G>A (p.Glu2089Lys) c.4252G>A (p.Glu1418Lys) c.3802G>A (p.Glu1268Lys) c.3010G>A (p.Glu1004Lys) | |
| 8 | g.60852900G>C | CA371324378 | CHD7 | c.6175G>C (p.Glu2059Gln) c.1717-9329G>C (n.1717-9329G>C) c.6265G>C (p.Glu2089Gln) c.4252G>C (p.Glu1418Gln) c.3802G>C (p.Glu1268Gln) c.3010G>C (p.Glu1004Gln) | |
| 8 | g.60852900G= | CA1788102676 | CHD7 | c.6175G= (p.Glu2059=) c.1717-9329G= (n.1717-9329G=) c.6265G= (p.Glu2089=) c.4252G= (p.Glu1418=) c.3802G= (p.Glu1268=) c.3010G= (p.Glu1004=) | |
| 8 | g.60852900G>T | CA16605250 | CHD7 | c.6175G>T (p.Glu2059Ter) c.1717-9329G>T (n.1717-9329G>T) c.6265G>T (p.Glu2089Ter) c.4252G>T (p.Glu1418Ter) c.3802G>T (p.Glu1268Ter) c.3010G>T (p.Glu1004Ter) | ClinVar dbSNP |
| 8 | g.60852901A>C | CA371324379 | CHD7 | c.6176A>C (p.Glu2059Ala) c.1717-9328A>C (n.1717-9328A>C) c.6266A>C (p.Glu2089Ala) c.4253A>C (p.Glu1418Ala) c.3803A>C (p.Glu1268Ala) c.3011A>C (p.Glu1004Ala) | |
| 8 | g.60852901A>G | CA371324380 | CHD7 | c.6176A>G (p.Glu2059Gly) c.1717-9328A>G (n.1717-9328A>G) c.6266A>G (p.Glu2089Gly) c.4253A>G (p.Glu1418Gly) c.3803A>G (p.Glu1268Gly) c.3011A>G (p.Glu1004Gly) | gnomAD v4 |
| 8 | g.60852901A>T | CA371324381 | CHD7 | c.6176A>T (p.Glu2059Val) c.1717-9328A>T (n.1717-9328A>T) c.6266A>T (p.Glu2089Val) c.4253A>T (p.Glu1418Val) c.3803A>T (p.Glu1268Val) c.3011A>T (p.Glu1004Val) | |
| 8 | g.60852902G>A | CA461104972 | CHD7 | c.6177G>A (p.Glu2059=) c.1717-9327G>A (n.1717-9327G>A) c.6267G>A (p.Glu2089=) c.4254G>A (p.Glu1418=) c.3804G>A (p.Glu1268=) c.3012G>A (p.Glu1004=) | dbSNP |
| 8 | g.60852902G>C | CA371324382 | CHD7 | c.6177G>C (p.Glu2059Asp) c.1717-9327G>C (n.1717-9327G>C) c.6267G>C (p.Glu2089Asp) c.4254G>C (p.Glu1418Asp) c.3804G>C (p.Glu1268Asp) c.3012G>C (p.Glu1004Asp) | |
| 8 | g.60852902G= | CA1788102680 | CHD7 | c.6177G= (p.Glu2059=) c.1717-9327G= (n.1717-9327G=) c.6267G= (p.Glu2089=) c.4254G= (p.Glu1418=) c.3804G= (p.Glu1268=) c.3012G= (p.Glu1004=) | |
| 8 | g.60852902G>T | CA371324383 | CHD7 | c.6177G>T (p.Glu2059Asp) c.1717-9327G>T (n.1717-9327G>T) c.6267G>T (p.Glu2089Asp) c.4254G>T (p.Glu1418Asp) c.3804G>T (p.Glu1268Asp) c.3012G>T (p.Glu1004Asp) | gnomAD v4 |
| 8 | g.60852903C>A | CA371324384 | CHD7 | c.6178C>A (p.Leu2060Met) c.1717-9326C>A (n.1717-9326C>A) c.6268C>A (p.Leu2090Met) c.4255C>A (p.Leu1419Met) c.3805C>A (p.Leu1269Met) c.3013C>A (p.Leu1005Met) | gnomAD v4 |
| 8 | g.60852903C= | CA1788102698 | CHD7 | c.6178C= (p.Leu2060=) c.1717-9326C= (n.1717-9326C=) c.6268C= (p.Leu2090=) c.4255C= (p.Leu1419=) c.3805C= (p.Leu1269=) c.3013C= (p.Leu1005=) | |
| 8 | g.60852903C>G | CA371324385 | CHD7 | c.6178C>G (p.Leu2060Val) c.1717-9326C>G (n.1717-9326C>G) c.6268C>G (p.Leu2090Val) c.4255C>G (p.Leu1419Val) c.3805C>G (p.Leu1269Val) c.3013C>G (p.Leu1005Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852903C>T | CA461104973 | CHD7 | c.6178C>T (p.Leu2060=) c.1717-9326C>T (n.1717-9326C>T) c.6268C>T (p.Leu2090=) c.4255C>T (p.Leu1419=) c.3805C>T (p.Leu1269=) c.3013C>T (p.Leu1005=) | |
| 8 | g.60852904del | CA2695209410 | CHD7 | c.6179del (p.Leu2060ArgfsTer?) c.1717-9325del (n.1717-9325del) c.6269del (p.Leu2090ArgfsTer?) c.4256del (p.Leu1419ArgfsTer?) c.3806del (p.Leu1269ArgfsTer?) c.3014del (p.Leu1005ArgfsTer?) | |
| 8 | g.60852904T>A | CA371324386 | CHD7 | c.6179T>A (p.Leu2060Gln) c.1717-9325T>A (n.1717-9325T>A) c.6269T>A (p.Leu2090Gln) c.4256T>A (p.Leu1419Gln) c.3806T>A (p.Leu1269Gln) c.3014T>A (p.Leu1005Gln) | |
| 8 | g.60852904T>C | CA371324387 | CHD7 | c.6179T>C (p.Leu2060Pro) c.1717-9325T>C (n.1717-9325T>C) c.6269T>C (p.Leu2090Pro) c.4256T>C (p.Leu1419Pro) c.3806T>C (p.Leu1269Pro) c.3014T>C (p.Leu1005Pro) | |
| 8 | g.60852904T>G | CA371324388 | CHD7 | c.6179T>G (p.Leu2060Arg) c.1717-9325T>G (n.1717-9325T>G) c.6269T>G (p.Leu2090Arg) c.4256T>G (p.Leu1419Arg) c.3806T>G (p.Leu1269Arg) c.3014T>G (p.Leu1005Arg) | |
| 8 | g.60852905G>A | CA461104977 | CHD7 | c.6180G>A (p.Leu2060=) c.1717-9324G>A (n.1717-9324G>A) c.6270G>A (p.Leu2090=) c.4257G>A (p.Leu1419=) c.3807G>A (p.Leu1269=) c.3015G>A (p.Leu1005=) | |
| 8 | g.60852905G>C | CA461104978 | CHD7 | c.6180G>C (p.Leu2060=) c.1717-9324G>C (n.1717-9324G>C) c.6270G>C (p.Leu2090=) c.4257G>C (p.Leu1419=) c.3807G>C (p.Leu1269=) c.3015G>C (p.Leu1005=) | dbSNP |
| 8 | g.60852905G= | CA1788102705 | CHD7 | c.6180G= (p.Leu2060=) c.1717-9324G= (n.1717-9324G=) c.6270G= (p.Leu2090=) c.4257G= (p.Leu1419=) c.3807G= (p.Leu1269=) c.3015G= (p.Leu1005=) | |
| 8 | g.60852905G>T | CA177354028 | CHD7 | c.6180G>T (p.Leu2060=) c.1717-9324G>T (n.1717-9324G>T) c.6270G>T (p.Leu2090=) c.4257G>T (p.Leu1419=) c.3807G>T (p.Leu1269=) c.3015G>T (p.Leu1005=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852906C>A | CA371324389 | CHD7 | c.6181C>A (p.Leu2061Ile) c.1717-9323C>A (n.1717-9323C>A) c.6271C>A (p.Leu2091Ile) c.4258C>A (p.Leu1420Ile) c.3808C>A (p.Leu1270Ile) c.3016C>A (p.Leu1006Ile) | |
| 8 | g.60852906C>G | CA371324390 | CHD7 | c.6181C>G (p.Leu2061Val) c.1717-9323C>G (n.1717-9323C>G) c.6271C>G (p.Leu2091Val) c.4258C>G (p.Leu1420Val) c.3808C>G (p.Leu1270Val) c.3016C>G (p.Leu1006Val) | |
| 8 | g.60852906C>T | CA461104979 | CHD7 | c.6181C>T (p.Leu2061=) c.1717-9323C>T (n.1717-9323C>T) c.6271C>T (p.Leu2091=) c.4258C>T (p.Leu1420=) c.3808C>T (p.Leu1270=) c.3016C>T (p.Leu1006=) | |
| 8 | g.60852907T>A | CA371324393 | CHD7 | c.6182T>A (p.Leu2061Gln) c.1717-9322T>A (n.1717-9322T>A) c.6272T>A (p.Leu2091Gln) c.4259T>A (p.Leu1420Gln) c.3809T>A (p.Leu1270Gln) c.3017T>A (p.Leu1006Gln) | |
| 8 | g.60852907T>C | CA371324391 | CHD7 | c.6182T>C (p.Leu2061Pro) c.1717-9322T>C (n.1717-9322T>C) c.6272T>C (p.Leu2091Pro) c.4259T>C (p.Leu1420Pro) c.3809T>C (p.Leu1270Pro) c.3017T>C (p.Leu1006Pro) | |
| 8 | g.60852907T>G | CA371324392 | CHD7 | c.6182T>G (p.Leu2061Arg) c.1717-9322T>G (n.1717-9322T>G) c.6272T>G (p.Leu2091Arg) c.4259T>G (p.Leu1420Arg) c.3809T>G (p.Leu1270Arg) c.3017T>G (p.Leu1006Arg) | |
| 8 | g.60852908A= | CA1788102710 | CHD7 | c.6183A= (p.Leu2061=) c.1717-9321A= (n.1717-9321A=) c.6273A= (p.Leu2091=) c.4260A= (p.Leu1420=) c.3810A= (p.Leu1270=) c.3018A= (p.Leu1006=) | |
| 8 | g.60852908A>C | CA461104982 | CHD7 | c.6183A>C (p.Leu2061=) c.1717-9321A>C (n.1717-9321A>C) c.6273A>C (p.Leu2091=) c.4260A>C (p.Leu1420=) c.3810A>C (p.Leu1270=) c.3018A>C (p.Leu1006=) | |
| 8 | g.60852908A>G | CA461104983 | CHD7 | c.6183A>G (p.Leu2061=) c.1717-9321A>G (n.1717-9321A>G) c.6273A>G (p.Leu2091=) c.4260A>G (p.Leu1420=) c.3810A>G (p.Leu1270=) c.3018A>G (p.Leu1006=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852908A>T | CA461104984 | CHD7 | c.6183A>T (p.Leu2061=) c.1717-9321A>T (n.1717-9321A>T) c.6273A>T (p.Leu2091=) c.4260A>T (p.Leu1420=) c.3810A>T (p.Leu1270=) c.3018A>T (p.Leu1006=) | |
| 8 | g.60852909C>A | CA461104985 | CHD7 | c.6184C>A (p.Arg2062=) c.1717-9320C>A (n.1717-9320C>A) c.6274C>A (p.Arg2092=) c.4261C>A (p.Arg1421=) c.3811C>A (p.Arg1271=) c.3019C>A (p.Arg1007=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852909C= | CA1788102720 | CHD7 | c.6184C= (p.Arg2062=) c.1717-9320C= (n.1717-9320C=) c.6274C= (p.Arg2092=) c.4261C= (p.Arg1421=) c.3811C= (p.Arg1271=) c.3019C= (p.Arg1007=) | |
| 8 | g.60852909C>G | CA371324394 | CHD7 | c.6184C>G (p.Arg2062Gly) c.1717-9320C>G (n.1717-9320C>G) c.6274C>G (p.Arg2092Gly) c.4261C>G (p.Arg1421Gly) c.3811C>G (p.Arg1271Gly) c.3019C>G (p.Arg1007Gly) | |
| 8 | g.60852909C>T | CA10631389 | CHD7 | c.6184C>T (p.Arg2062Trp) c.1717-9320C>T (n.1717-9320C>T) c.6274C>T (p.Arg2092Trp) c.4261C>T (p.Arg1421Trp) c.3811C>T (p.Arg1271Trp) c.3019C>T (p.Arg1007Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852910G>A | CA4760545 | CHD7 | c.6185G>A (p.Arg2062Gln) c.1717-9319G>A (n.1717-9319G>A) c.6275G>A (p.Arg2092Gln) c.4262G>A (p.Arg1421Gln) c.3812G>A (p.Arg1271Gln) c.3020G>A (p.Arg1007Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852910G>C | CA371324395 | CHD7 | c.6185G>C (p.Arg2062Pro) c.1717-9319G>C (n.1717-9319G>C) c.6275G>C (p.Arg2092Pro) c.4262G>C (p.Arg1421Pro) c.3812G>C (p.Arg1271Pro) c.3020G>C (p.Arg1007Pro) | |
| 8 | g.60852910G= | CA1788102737 | CHD7 | c.6185G= (p.Arg2062=) c.1717-9319G= (n.1717-9319G=) c.6275G= (p.Arg2092=) c.4262G= (p.Arg1421=) c.3812G= (p.Arg1271=) c.3020G= (p.Arg1007=) | |
| 8 | g.60852910G>T | CA371324396 | CHD7 | c.6185G>T (p.Arg2062Leu) c.1717-9319G>T (n.1717-9319G>T) c.6275G>T (p.Arg2092Leu) c.4262G>T (p.Arg1421Leu) c.3812G>T (p.Arg1271Leu) c.3020G>T (p.Arg1007Leu) | |
| 8 | g.60852911dup | CA2582341678 | CHD7 | c.6186dup (p.Lys2063GlufsTer17) c.1717-9318dup (n.1717-9318dup) c.6276dup (p.Lys2093GlufsTer17) c.4263dup (p.Lys1422GlufsTer17) c.3813dup (p.Lys1272GlufsTer17) c.3021dup (p.Lys1008GlufsTer17) | ClinVar |
| 8 | g.60852911G>A | CA461104987 | CHD7 | c.6186G>A (p.Arg2062=) c.1717-9318G>A (n.1717-9318G>A) c.6276G>A (p.Arg2092=) c.4263G>A (p.Arg1421=) c.3813G>A (p.Arg1271=) c.3021G>A (p.Arg1007=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852911G>C | CA461104988 | CHD7 | c.6186G>C (p.Arg2062=) c.1717-9318G>C (n.1717-9318G>C) c.6276G>C (p.Arg2092=) c.4263G>C (p.Arg1421=) c.3813G>C (p.Arg1271=) c.3021G>C (p.Arg1007=) | |
| 8 | g.60852911G= | CA1788102743 | CHD7 | c.6186G= (p.Arg2062=) c.1717-9318G= (n.1717-9318G=) c.6276G= (p.Arg2092=) c.4263G= (p.Arg1421=) c.3813G= (p.Arg1271=) c.3021G= (p.Arg1007=) | |
| 8 | g.60852911G>T | CA461104989 | CHD7 | c.6186G>T (p.Arg2062=) c.1717-9318G>T (n.1717-9318G>T) c.6276G>T (p.Arg2092=) c.4263G>T (p.Arg1421=) c.3813G>T (p.Arg1271=) c.3021G>T (p.Arg1007=) | |
| 8 | g.60852912A>C | CA371324397 | CHD7 | c.6187A>C (p.Lys2063Gln) c.1717-9317A>C (n.1717-9317A>C) c.6277A>C (p.Lys2093Gln) c.4264A>C (p.Lys1422Gln) c.3814A>C (p.Lys1272Gln) c.3022A>C (p.Lys1008Gln) | |
| 8 | g.60852912A>G | CA371324398 | CHD7 | c.6187A>G (p.Lys2063Glu) c.1717-9317A>G (n.1717-9317A>G) c.6277A>G (p.Lys2093Glu) c.4264A>G (p.Lys1422Glu) c.3814A>G (p.Lys1272Glu) c.3022A>G (p.Lys1008Glu) | |
| 8 | g.60852912A>T | CA371324399 | CHD7 | c.6187A>T (p.Lys2063Ter) c.1717-9317A>T (n.1717-9317A>T) c.6277A>T (p.Lys2093Ter) c.4264A>T (p.Lys1422Ter) c.3814A>T (p.Lys1272Ter) c.3022A>T (p.Lys1008Ter) | |
| 8 | g.60852913A>C | CA371324400 | CHD7 | c.6188A>C (p.Lys2063Thr) c.1717-9316A>C (n.1717-9316A>C) c.6278A>C (p.Lys2093Thr) c.4265A>C (p.Lys1422Thr) c.3815A>C (p.Lys1272Thr) c.3023A>C (p.Lys1008Thr) | |
| 8 | g.60852913A>G | CA371324401 | CHD7 | c.6188A>G (p.Lys2063Arg) c.1717-9316A>G (n.1717-9316A>G) c.6278A>G (p.Lys2093Arg) c.4265A>G (p.Lys1422Arg) c.3815A>G (p.Lys1272Arg) c.3023A>G (p.Lys1008Arg) | |
| 8 | g.60852913A>T | CA371324402 | CHD7 | c.6188A>T (p.Lys2063Met) c.1717-9316A>T (n.1717-9316A>T) c.6278A>T (p.Lys2093Met) c.4265A>T (p.Lys1422Met) c.3815A>T (p.Lys1272Met) c.3023A>T (p.Lys1008Met) | |
| 8 | g.60852914G>A | CA461104990 | CHD7 | c.6189G>A (p.Lys2063=) c.1717-9315G>A (n.1717-9315G>A) c.6279G>A (p.Lys2093=) c.4266G>A (p.Lys1422=) c.3816G>A (p.Lys1272=) c.3024G>A (p.Lys1008=) | |
| 8 | g.60852914G>C | CA371324403 | CHD7 | c.6189G>C (p.Lys2063Asn) c.1717-9315G>C (n.1717-9315G>C) c.6279G>C (p.Lys2093Asn) c.4266G>C (p.Lys1422Asn) c.3816G>C (p.Lys1272Asn) c.3024G>C (p.Lys1008Asn) | |
| 8 | g.60852914G>T | CA371324404 | CHD7 | c.6189G>T (p.Lys2063Asn) c.1717-9315G>T (n.1717-9315G>T) c.6279G>T (p.Lys2093Asn) c.4266G>T (p.Lys1422Asn) c.3816G>T (p.Lys1272Asn) c.3024G>T (p.Lys1008Asn) | |
| 8 | g.60852915A= | CA1788102750 | CHD7 | c.6190A= (p.Ile2064=) c.1717-9314A= (n.1717-9314A=) c.6280A= (p.Ile2094=) c.4267A= (p.Ile1423=) c.3817A= (p.Ile1273=) c.3025A= (p.Ile1009=) | |
| 8 | g.60852915A>C | CA371324406 | CHD7 | c.6190A>C (p.Ile2064Leu) c.1717-9314A>C (n.1717-9314A>C) c.6280A>C (p.Ile2094Leu) c.4267A>C (p.Ile1423Leu) c.3817A>C (p.Ile1273Leu) c.3025A>C (p.Ile1009Leu) | |
| 8 | g.60852915A>G | CA4760546 | CHD7 | c.6190A>G (p.Ile2064Val) c.1717-9314A>G (n.1717-9314A>G) c.6280A>G (p.Ile2094Val) c.4267A>G (p.Ile1423Val) c.3817A>G (p.Ile1273Val) c.3025A>G (p.Ile1009Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852915A>T | CA371324405 | CHD7 | c.6190A>T (p.Ile2064Phe) c.1717-9314A>T (n.1717-9314A>T) c.6280A>T (p.Ile2094Phe) c.4267A>T (p.Ile1423Phe) c.3817A>T (p.Ile1273Phe) c.3025A>T (p.Ile1009Phe) | |
| 8 | g.60852916T>A | CA371324407 | CHD7 | c.6191T>A (p.Ile2064Asn) c.1717-9313T>A (n.1717-9313T>A) c.6281T>A (p.Ile2094Asn) c.4268T>A (p.Ile1423Asn) c.3818T>A (p.Ile1273Asn) c.3026T>A (p.Ile1009Asn) | |
| 8 | g.60852916T>C | CA371324408 | CHD7 | c.6191T>C (p.Ile2064Thr) c.1717-9313T>C (n.1717-9313T>C) c.6281T>C (p.Ile2094Thr) c.4268T>C (p.Ile1423Thr) c.3818T>C (p.Ile1273Thr) c.3026T>C (p.Ile1009Thr) | |
| 8 | g.60852916T>G | CA371324409 | CHD7 | c.6191T>G (p.Ile2064Ser) c.1717-9313T>G (n.1717-9313T>G) c.6281T>G (p.Ile2094Ser) c.4268T>G (p.Ile1423Ser) c.3818T>G (p.Ile1273Ser) c.3026T>G (p.Ile1009Ser) | |
| 8 | g.60852917C>A | CA461104995 | CHD7 | c.6192C>A (p.Ile2064=) c.1717-9312C>A (n.1717-9312C>A) c.6282C>A (p.Ile2094=) c.4269C>A (p.Ile1423=) c.3819C>A (p.Ile1273=) c.3027C>A (p.Ile1009=) | |
| 8 | g.60852917C= | CA1788102758 | CHD7 | c.6192C= (p.Ile2064=) c.1717-9312C= (n.1717-9312C=) c.6282C= (p.Ile2094=) c.4269C= (p.Ile1423=) c.3819C= (p.Ile1273=) c.3027C= (p.Ile1009=) | |
| 8 | g.60852917C>G | CA371324410 | CHD7 | c.6192C>G (p.Ile2064Met) c.1717-9312C>G (n.1717-9312C>G) c.6282C>G (p.Ile2094Met) c.4269C>G (p.Ile1423Met) c.3819C>G (p.Ile1273Met) c.3027C>G (p.Ile1009Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852917C>T | CA461104993 | CHD7 | c.6192C>T (p.Ile2064=) c.1717-9312C>T (n.1717-9312C>T) c.6282C>T (p.Ile2094=) c.4269C>T (p.Ile1423=) c.3819C>T (p.Ile1273=) c.3027C>T (p.Ile1009=) | |
| 8 | g.60852918C>A | CA371324411 | CHD7 | c.6193C>A (p.Arg2065Ser) c.1717-9311C>A (n.1717-9311C>A) c.6283C>A (p.Arg2095Ser) c.4270C>A (p.Arg1424Ser) c.3820C>A (p.Arg1274Ser) c.3028C>A (p.Arg1010Ser) | |
| 8 | g.60852918C= | CA1788102771 | CHD7 | c.6193C= (p.Arg2065=) c.1717-9311C= (n.1717-9311C=) c.6283C= (p.Arg2095=) c.4270C= (p.Arg1424=) c.3820C= (p.Arg1274=) c.3028C= (p.Arg1010=) | |
| 8 | g.60852918C>G | CA16618675 | CHD7 | c.6193C>G (p.Arg2065Gly) c.1717-9311C>G (n.1717-9311C>G) c.6283C>G (p.Arg2095Gly) c.4270C>G (p.Arg1424Gly) c.3820C>G (p.Arg1274Gly) c.3028C>G (p.Arg1010Gly) | ClinVar dbSNP |
| 8 | g.60852918C>T | CA371324412 | CHD7 | c.6193C>T (p.Arg2065Cys) c.1717-9311C>T (n.1717-9311C>T) c.6283C>T (p.Arg2095Cys) c.4270C>T (p.Arg1424Cys) c.3820C>T (p.Arg1274Cys) c.3028C>T (p.Arg1010Cys) | ClinVar dbSNP |
| 8 | g.60852919G>A | CA371324413 | CHD7 | c.6194G>A (p.Arg2065His) c.1717-9310G>A (n.1717-9310G>A) c.6284G>A (p.Arg2095His) c.4271G>A (p.Arg1424His) c.3821G>A (p.Arg1274His) c.3029G>A (p.Arg1010His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852919G>C | CA371324415 | CHD7 | c.6194G>C (p.Arg2065Pro) c.1717-9310G>C (n.1717-9310G>C) c.6284G>C (p.Arg2095Pro) c.4271G>C (p.Arg1424Pro) c.3821G>C (p.Arg1274Pro) c.3029G>C (p.Arg1010Pro) | |
| 8 | g.60852919G= | CA1788102791 | CHD7 | c.6194G= (p.Arg2065=) c.1717-9310G= (n.1717-9310G=) c.6284G= (p.Arg2095=) c.4271G= (p.Arg1424=) c.3821G= (p.Arg1274=) c.3029G= (p.Arg1010=) | |
| 8 | g.60852919G>T | CA371324414 | CHD7 | c.6194G>T (p.Arg2065Leu) c.1717-9310G>T (n.1717-9310G>T) c.6284G>T (p.Arg2095Leu) c.4271G>T (p.Arg1424Leu) c.3821G>T (p.Arg1274Leu) c.3029G>T (p.Arg1010Leu) | |
| 8 | g.60852920C>A | CA461104996 | CHD7 | c.6195C>A (p.Arg2065=) c.1717-9309C>A (n.1717-9309C>A) c.6285C>A (p.Arg2095=) c.4272C>A (p.Arg1424=) c.3822C>A (p.Arg1274=) c.3030C>A (p.Arg1010=) | |
| 8 | g.60852920C= | CA1788102803 | CHD7 | c.6195C= (p.Arg2065=) c.1717-9309C= (n.1717-9309C=) c.6285C= (p.Arg2095=) c.4272C= (p.Arg1424=) c.3822C= (p.Arg1274=) c.3030C= (p.Arg1010=) | |
| 8 | g.60852920C>G | CA461104999 | CHD7 | c.6195C>G (p.Arg2065=) c.1717-9309C>G (n.1717-9309C>G) c.6285C>G (p.Arg2095=) c.4272C>G (p.Arg1424=) c.3822C>G (p.Arg1274=) c.3030C>G (p.Arg1010=) | |
| 8 | g.60852920C>T | CA4760547 | CHD7 | c.6195C>T (p.Arg2065=) c.1717-9309C>T (n.1717-9309C>T) c.6285C>T (p.Arg2095=) c.4272C>T (p.Arg1424=) c.3822C>T (p.Arg1274=) c.3030C>T (p.Arg1010=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852921G>A | CA371324416 | CHD7 | c.6196G>A (p.Glu2066Lys) c.1717-9308G>A (n.1717-9308G>A) c.6286G>A (p.Glu2096Lys) c.4273G>A (p.Glu1425Lys) c.3823G>A (p.Glu1275Lys) c.3031G>A (p.Glu1011Lys) | ClinVar gnomAD v4 |
| 8 | g.60852921G>C | CA4760548 | CHD7 | c.6196G>C (p.Glu2066Gln) c.1717-9308G>C (n.1717-9308G>C) c.6286G>C (p.Glu2096Gln) c.4273G>C (p.Glu1425Gln) c.3823G>C (p.Glu1275Gln) c.3031G>C (p.Glu1011Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852921G= | CA1788102814 | CHD7 | c.6196G= (p.Glu2066=) c.1717-9308G= (n.1717-9308G=) c.6286G= (p.Glu2096=) c.4273G= (p.Glu1425=) c.3823G= (p.Glu1275=) c.3031G= (p.Glu1011=) | |
| 8 | g.60852921G>T | CA371324417 | CHD7 | c.6196G>T (p.Glu2066Ter) c.1717-9308G>T (n.1717-9308G>T) c.6286G>T (p.Glu2096Ter) c.4273G>T (p.Glu1425Ter) c.3823G>T (p.Glu1275Ter) c.3031G>T (p.Glu1011Ter) | |
| 8 | g.60852922A= | CA1788102822 | CHD7 | c.6197A= (p.Glu2066=) c.1717-9307A= (n.1717-9307A=) c.6287A= (p.Glu2096=) c.4274A= (p.Glu1425=) c.3824A= (p.Glu1275=) c.3032A= (p.Glu1011=) | |
| 8 | g.60852922A>C | CA371324420 | CHD7 | c.6197A>C (p.Glu2066Ala) c.1717-9307A>C (n.1717-9307A>C) c.6287A>C (p.Glu2096Ala) c.4274A>C (p.Glu1425Ala) c.3824A>C (p.Glu1275Ala) c.3032A>C (p.Glu1011Ala) | |
| 8 | g.60852922A>G | CA371324418 | CHD7 | c.6197A>G (p.Glu2066Gly) c.1717-9307A>G (n.1717-9307A>G) c.6287A>G (p.Glu2096Gly) c.4274A>G (p.Glu1425Gly) c.3824A>G (p.Glu1275Gly) c.3032A>G (p.Glu1011Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852922A>T | CA371324419 | CHD7 | c.6197A>T (p.Glu2066Val) c.1717-9307A>T (n.1717-9307A>T) c.6287A>T (p.Glu2096Val) c.4274A>T (p.Glu1425Val) c.3824A>T (p.Glu1275Val) c.3032A>T (p.Glu1011Val) | |
| 8 | g.60852923G>A | CA461105001 | CHD7 | c.6198G>A (p.Glu2066=) c.1717-9306G>A (n.1717-9306G>A) c.6288G>A (p.Glu2096=) c.4275G>A (p.Glu1425=) c.3825G>A (p.Glu1275=) c.3033G>A (p.Glu1011=) | |
| 8 | g.60852923G>C | CA177354036 | CHD7 | c.6198G>C (p.Glu2066Asp) c.1717-9306G>C (n.1717-9306G>C) c.6288G>C (p.Glu2096Asp) c.4275G>C (p.Glu1425Asp) c.3825G>C (p.Glu1275Asp) c.3033G>C (p.Glu1011Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852923G= | CA1788102829 | CHD7 | c.6198G= (p.Glu2066=) c.1717-9306G= (n.1717-9306G=) c.6288G= (p.Glu2096=) c.4275G= (p.Glu1425=) c.3825G= (p.Glu1275=) c.3033G= (p.Glu1011=) | |
| 8 | g.60852923G>T | CA371324421 | CHD7 | c.6198G>T (p.Glu2066Asp) c.1717-9306G>T (n.1717-9306G>T) c.6288G>T (p.Glu2096Asp) c.4275G>T (p.Glu1425Asp) c.3825G>T (p.Glu1275Asp) c.3033G>T (p.Glu1011Asp) | |
| 8 | g.60852924C>A | CA371324422 | CHD7 | c.6199C>A (p.Gln2067Lys) c.1717-9305C>A (n.1717-9305C>A) c.6289C>A (p.Gln2097Lys) c.4276C>A (p.Gln1426Lys) c.3826C>A (p.Gln1276Lys) c.3034C>A (p.Gln1012Lys) | |
| 8 | g.60852924C= | CA1788102838 | CHD7 | c.6199C= (p.Gln2067=) c.1717-9305C= (n.1717-9305C=) c.6289C= (p.Gln2097=) c.4276C= (p.Gln1426=) c.3826C= (p.Gln1276=) c.3034C= (p.Gln1012=) | |
| 8 | g.60852924C>G | CA4760549 | CHD7 | c.6199C>G (p.Gln2067Glu) c.1717-9305C>G (n.1717-9305C>G) c.6289C>G (p.Gln2097Glu) c.4276C>G (p.Gln1426Glu) c.3826C>G (p.Gln1276Glu) c.3034C>G (p.Gln1012Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852924C>T | CA371324423 | CHD7 | c.6199C>T (p.Gln2067Ter) c.1717-9305C>T (n.1717-9305C>T) c.6289C>T (p.Gln2097Ter) c.4276C>T (p.Gln1426Ter) c.3826C>T (p.Gln1276Ter) c.3034C>T (p.Gln1012Ter) | ClinVar dbSNP |
| 8 | g.60852925A>C | CA371324424 | CHD7 | c.6200A>C (p.Gln2067Pro) c.1717-9304A>C (n.1717-9304A>C) c.6290A>C (p.Gln2097Pro) c.4277A>C (p.Gln1426Pro) c.3827A>C (p.Gln1276Pro) c.3035A>C (p.Gln1012Pro) | |
| 8 | g.60852925A>G | CA371324425 | CHD7 | c.6200A>G (p.Gln2067Arg) c.1717-9304A>G (n.1717-9304A>G) c.6290A>G (p.Gln2097Arg) c.4277A>G (p.Gln1426Arg) c.3827A>G (p.Gln1276Arg) c.3035A>G (p.Gln1012Arg) | |
| 8 | g.60852925A>T | CA371324426 | CHD7 | c.6200A>T (p.Gln2067Leu) c.1717-9304A>T (n.1717-9304A>T) c.6290A>T (p.Gln2097Leu) c.4277A>T (p.Gln1426Leu) c.3827A>T (p.Gln1276Leu) c.3035A>T (p.Gln1012Leu) |