WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75029203del | CA16042713 | DUSP29,KAT6B | c.4379del (p.Leu1460Ter) c.3830del (p.Leu1277Ter) c.3503del (p.Leu1168Ter) n.577-2604del c.*3622-2604del (n.*3622-2604del) c.4217del (p.Leu1406Ter) c.3341del (p.Leu1114Ter) c.2690del (p.Leu897Ter) c.2294del (p.Leu765Ter) c.2036del (p.Leu679Ter) c.3314del (p.Leu1105Ter) | ClinVar dbSNP COSMIC |
| 10 | g.75029203T>A | CA377296840 | DUSP29,KAT6B | c.4379T>A (p.Leu1460Ter) c.3830T>A (p.Leu1277Ter) c.3503T>A (p.Leu1168Ter) n.577-2609A>T c.*3622-2609A>T (n.*3622-2609A>T) c.4217T>A (p.Leu1406Ter) c.3341T>A (p.Leu1114Ter) c.2690T>A (p.Leu897Ter) c.2294T>A (p.Leu765Ter) c.2036T>A (p.Leu679Ter) c.3314T>A (p.Leu1105Ter) | |
| 10 | g.75029203T>C | CA377296841 | DUSP29,KAT6B | c.4379T>C (p.Leu1460Ser) c.3830T>C (p.Leu1277Ser) c.3503T>C (p.Leu1168Ser) n.577-2609A>G c.*3622-2609A>G (n.*3622-2609A>G) c.4217T>C (p.Leu1406Ser) c.3341T>C (p.Leu1114Ser) c.2690T>C (p.Leu897Ser) c.2294T>C (p.Leu765Ser) c.2036T>C (p.Leu679Ser) c.3314T>C (p.Leu1105Ser) | dbSNP gnomAD v4 |
| 10 | g.75029203T>G | CA377296842 | DUSP29,KAT6B | c.4379T>G (p.Leu1460Ter) c.3830T>G (p.Leu1277Ter) c.3503T>G (p.Leu1168Ter) n.577-2609A>C c.*3622-2609A>C (n.*3622-2609A>C) c.4217T>G (p.Leu1406Ter) c.3341T>G (p.Leu1114Ter) c.2690T>G (p.Leu897Ter) c.2294T>G (p.Leu765Ter) c.2036T>G (p.Leu679Ter) c.3314T>G (p.Leu1105Ter) | COSMIC |
| 10 | g.75029203T= | CA1920306638 | DUSP29,KAT6B | c.4379T= (p.Leu1460=) c.3830T= (p.Leu1277=) c.3503T= (p.Leu1168=) n.577-2609A= c.*3622-2609A= (n.*3622-2609A=) c.4217T= (p.Leu1406=) c.3341T= (p.Leu1114=) c.2690T= (p.Leu897=) c.2294T= (p.Leu765=) c.2036T= (p.Leu679=) c.3314T= (p.Leu1105=) | |
| 10 | g.75029204A>C | CA377296844 | DUSP29,KAT6B | c.4380A>C (p.Leu1460Phe) c.3831A>C (p.Leu1277Phe) c.3504A>C (p.Leu1168Phe) n.577-2610T>G c.*3622-2610T>G (n.*3622-2610T>G) c.4218A>C (p.Leu1406Phe) c.3342A>C (p.Leu1114Phe) c.2691A>C (p.Leu897Phe) c.2295A>C (p.Leu765Phe) c.2037A>C (p.Leu679Phe) c.3315A>C (p.Leu1105Phe) | |
| 10 | g.75029204A>G | CA470300364 | DUSP29,KAT6B | c.4380A>G (p.Leu1460=) c.3831A>G (p.Leu1277=) c.3504A>G (p.Leu1168=) n.577-2610T>C c.*3622-2610T>C (n.*3622-2610T>C) c.4218A>G (p.Leu1406=) c.3342A>G (p.Leu1114=) c.2691A>G (p.Leu897=) c.2295A>G (p.Leu765=) c.2037A>G (p.Leu679=) c.3315A>G (p.Leu1105=) | |
| 10 | g.75029204A>T | CA377296843 | DUSP29,KAT6B | c.4380A>T (p.Leu1460Phe) c.3831A>T (p.Leu1277Phe) c.3504A>T (p.Leu1168Phe) n.577-2610T>A c.*3622-2610T>A (n.*3622-2610T>A) c.4218A>T (p.Leu1406Phe) c.3342A>T (p.Leu1114Phe) c.2691A>T (p.Leu897Phe) c.2295A>T (p.Leu765Phe) c.2037A>T (p.Leu679Phe) c.3315A>T (p.Leu1105Phe) | |
| 10 | g.75029205G>A | CA377296845 | DUSP29,KAT6B | c.4381G>A (p.Asp1461Asn) c.3832G>A (p.Asp1278Asn) c.3505G>A (p.Asp1169Asn) n.577-2611C>T c.*3622-2611C>T (n.*3622-2611C>T) c.4219G>A (p.Asp1407Asn) c.3343G>A (p.Asp1115Asn) c.2692G>A (p.Asp898Asn) c.2296G>A (p.Asp766Asn) c.2038G>A (p.Asp680Asn) c.3316G>A (p.Asp1106Asn) | |
| 10 | g.75029205G>C | CA377296846 | DUSP29,KAT6B | c.4381G>C (p.Asp1461His) c.3832G>C (p.Asp1278His) c.3505G>C (p.Asp1169His) n.577-2611C>G c.*3622-2611C>G (n.*3622-2611C>G) c.4219G>C (p.Asp1407His) c.3343G>C (p.Asp1115His) c.2692G>C (p.Asp898His) c.2296G>C (p.Asp766His) c.2038G>C (p.Asp680His) c.3316G>C (p.Asp1106His) | |
| 10 | g.75029205G>T | CA377296847 | DUSP29,KAT6B | c.4381G>T (p.Asp1461Tyr) c.3832G>T (p.Asp1278Tyr) c.3505G>T (p.Asp1169Tyr) n.577-2611C>A c.*3622-2611C>A (n.*3622-2611C>A) c.4219G>T (p.Asp1407Tyr) c.3343G>T (p.Asp1115Tyr) c.2692G>T (p.Asp898Tyr) c.2296G>T (p.Asp766Tyr) c.2038G>T (p.Asp680Tyr) c.3316G>T (p.Asp1106Tyr) | |
| 10 | g.75029206A= | CA1920306639 | DUSP29,KAT6B | c.4382A= (p.Asp1461=) c.3833A= (p.Asp1278=) c.3506A= (p.Asp1169=) n.577-2612T= c.*3622-2612T= (n.*3622-2612T=) c.4220A= (p.Asp1407=) c.3344A= (p.Asp1115=) c.2693A= (p.Asp898=) c.2297A= (p.Asp766=) c.2039A= (p.Asp680=) c.3317A= (p.Asp1106=) | |
| 10 | g.75029206A>C | CA377296848 | DUSP29,KAT6B | c.4382A>C (p.Asp1461Ala) c.3833A>C (p.Asp1278Ala) c.3506A>C (p.Asp1169Ala) n.577-2612T>G c.*3622-2612T>G (n.*3622-2612T>G) c.4220A>C (p.Asp1407Ala) c.3344A>C (p.Asp1115Ala) c.2693A>C (p.Asp898Ala) c.2297A>C (p.Asp766Ala) c.2039A>C (p.Asp680Ala) c.3317A>C (p.Asp1106Ala) | dbSNP gnomAD v4 |
| 10 | g.75029206A>G | CA377296849 | DUSP29,KAT6B | c.4382A>G (p.Asp1461Gly) c.3833A>G (p.Asp1278Gly) c.3506A>G (p.Asp1169Gly) n.577-2612T>C c.*3622-2612T>C (n.*3622-2612T>C) c.4220A>G (p.Asp1407Gly) c.3344A>G (p.Asp1115Gly) c.2693A>G (p.Asp898Gly) c.2297A>G (p.Asp766Gly) c.2039A>G (p.Asp680Gly) c.3317A>G (p.Asp1106Gly) | |
| 10 | g.75029206A>T | CA377296850 | DUSP29,KAT6B | c.4382A>T (p.Asp1461Val) c.3833A>T (p.Asp1278Val) c.3506A>T (p.Asp1169Val) n.577-2612T>A c.*3622-2612T>A (n.*3622-2612T>A) c.4220A>T (p.Asp1407Val) c.3344A>T (p.Asp1115Val) c.2693A>T (p.Asp898Val) c.2297A>T (p.Asp766Val) c.2039A>T (p.Asp680Val) c.3317A>T (p.Asp1106Val) | |
| 10 | g.75029207C>A | CA377296851 | DUSP29,KAT6B | c.4383C>A (p.Asp1461Glu) c.3834C>A (p.Asp1278Glu) c.3507C>A (p.Asp1169Glu) n.577-2613G>T c.*3622-2613G>T (n.*3622-2613G>T) c.4221C>A (p.Asp1407Glu) c.3345C>A (p.Asp1115Glu) c.2694C>A (p.Asp898Glu) c.2298C>A (p.Asp766Glu) c.2040C>A (p.Asp680Glu) c.3318C>A (p.Asp1106Glu) | |
| 10 | g.75029207C>G | CA377296852 | DUSP29,KAT6B | c.4383C>G (p.Asp1461Glu) c.3834C>G (p.Asp1278Glu) c.3507C>G (p.Asp1169Glu) n.577-2613G>C c.*3622-2613G>C (n.*3622-2613G>C) c.4221C>G (p.Asp1407Glu) c.3345C>G (p.Asp1115Glu) c.2694C>G (p.Asp898Glu) c.2298C>G (p.Asp766Glu) c.2040C>G (p.Asp680Glu) c.3318C>G (p.Asp1106Glu) | |
| 10 | g.75029207C>T | CA470300370 | DUSP29,KAT6B | c.4383C>T (p.Asp1461=) c.3834C>T (p.Asp1278=) c.3507C>T (p.Asp1169=) n.577-2613G>A c.*3622-2613G>A (n.*3622-2613G>A) c.4221C>T (p.Asp1407=) c.3345C>T (p.Asp1115=) c.2694C>T (p.Asp898=) c.2298C>T (p.Asp766=) c.2040C>T (p.Asp680=) c.3318C>T (p.Asp1106=) | |
| 10 | g.75029208C>A | CA5565022 | DUSP29,KAT6B | c.4384C>A (p.Leu1462Ile) c.3835C>A (p.Leu1279Ile) c.3508C>A (p.Leu1170Ile) n.577-2614G>T c.*3622-2614G>T (n.*3622-2614G>T) c.4222C>A (p.Leu1408Ile) c.3346C>A (p.Leu1116Ile) c.2695C>A (p.Leu899Ile) c.2299C>A (p.Leu767Ile) c.2041C>A (p.Leu681Ile) c.3319C>A (p.Leu1107Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75029208C= | CA1920306640 | DUSP29,KAT6B | c.4384C= (p.Leu1462=) c.3835C= (p.Leu1279=) c.3508C= (p.Leu1170=) n.577-2614G= c.*3622-2614G= (n.*3622-2614G=) c.4222C= (p.Leu1408=) c.3346C= (p.Leu1116=) c.2695C= (p.Leu899=) c.2299C= (p.Leu767=) c.2041C= (p.Leu681=) c.3319C= (p.Leu1107=) | |
| 10 | g.75029208C>G | CA377296853 | DUSP29,KAT6B | c.4384C>G (p.Leu1462Val) c.3835C>G (p.Leu1279Val) c.3508C>G (p.Leu1170Val) n.577-2614G>C c.*3622-2614G>C (n.*3622-2614G>C) c.4222C>G (p.Leu1408Val) c.3346C>G (p.Leu1116Val) c.2695C>G (p.Leu899Val) c.2299C>G (p.Leu767Val) c.2041C>G (p.Leu681Val) c.3319C>G (p.Leu1107Val) | |
| 10 | g.75029208C>T | CA377296854 | DUSP29,KAT6B | c.4384C>T (p.Leu1462Phe) c.3835C>T (p.Leu1279Phe) c.3508C>T (p.Leu1170Phe) n.577-2614G>A c.*3622-2614G>A (n.*3622-2614G>A) c.4222C>T (p.Leu1408Phe) c.3346C>T (p.Leu1116Phe) c.2695C>T (p.Leu899Phe) c.2299C>T (p.Leu767Phe) c.2041C>T (p.Leu681Phe) c.3319C>T (p.Leu1107Phe) | gnomAD v4 |
| 10 | g.75029209T>A | CA377296857 | DUSP29,KAT6B | c.4385T>A (p.Leu1462His) c.3836T>A (p.Leu1279His) c.3509T>A (p.Leu1170His) n.577-2615A>T c.*3622-2615A>T (n.*3622-2615A>T) c.4223T>A (p.Leu1408His) c.3347T>A (p.Leu1116His) c.2696T>A (p.Leu899His) c.2300T>A (p.Leu767His) c.2042T>A (p.Leu681His) c.3320T>A (p.Leu1107His) | |
| 10 | g.75029209T>C | CA377296856 | DUSP29,KAT6B | c.4385T>C (p.Leu1462Pro) c.3836T>C (p.Leu1279Pro) c.3509T>C (p.Leu1170Pro) n.577-2615A>G c.*3622-2615A>G (n.*3622-2615A>G) c.4223T>C (p.Leu1408Pro) c.3347T>C (p.Leu1116Pro) c.2696T>C (p.Leu899Pro) c.2300T>C (p.Leu767Pro) c.2042T>C (p.Leu681Pro) c.3320T>C (p.Leu1107Pro) | |
| 10 | g.75029209T>G | CA377296855 | DUSP29,KAT6B | c.4385T>G (p.Leu1462Arg) c.3836T>G (p.Leu1279Arg) c.3509T>G (p.Leu1170Arg) n.577-2615A>C c.*3622-2615A>C (n.*3622-2615A>C) c.4223T>G (p.Leu1408Arg) c.3347T>G (p.Leu1116Arg) c.2696T>G (p.Leu899Arg) c.2300T>G (p.Leu767Arg) c.2042T>G (p.Leu681Arg) c.3320T>G (p.Leu1107Arg) | |
| 10 | g.75029210T>A | CA470300377 | DUSP29,KAT6B | c.4386T>A (p.Leu1462=) c.3837T>A (p.Leu1279=) c.3510T>A (p.Leu1170=) n.577-2616A>T c.*3622-2616A>T (n.*3622-2616A>T) c.4224T>A (p.Leu1408=) c.3348T>A (p.Leu1116=) c.2697T>A (p.Leu899=) c.2301T>A (p.Leu767=) c.2043T>A (p.Leu681=) c.3321T>A (p.Leu1107=) | |
| 10 | g.75029210T>C | CA470300379 | DUSP29,KAT6B | c.4386T>C (p.Leu1462=) c.3837T>C (p.Leu1279=) c.3510T>C (p.Leu1170=) n.577-2616A>G c.*3622-2616A>G (n.*3622-2616A>G) c.4224T>C (p.Leu1408=) c.3348T>C (p.Leu1116=) c.2697T>C (p.Leu899=) c.2301T>C (p.Leu767=) c.2043T>C (p.Leu681=) c.3321T>C (p.Leu1107=) | |
| 10 | g.75029210T>G | CA470300380 | DUSP29,KAT6B | c.4386T>G (p.Leu1462=) c.3837T>G (p.Leu1279=) c.3510T>G (p.Leu1170=) n.577-2616A>C c.*3622-2616A>C (n.*3622-2616A>C) c.4224T>G (p.Leu1408=) c.3348T>G (p.Leu1116=) c.2697T>G (p.Leu899=) c.2301T>G (p.Leu767=) c.2043T>G (p.Leu681=) c.3321T>G (p.Leu1107=) | |
| 10 | g.75029211A>C | CA377296859 | DUSP29,KAT6B | c.4387A>C (p.Asn1463His) c.3838A>C (p.Asn1280His) c.3511A>C (p.Asn1171His) n.577-2617T>G c.*3622-2617T>G (n.*3622-2617T>G) c.4225A>C (p.Asn1409His) c.3349A>C (p.Asn1117His) c.2698A>C (p.Asn900His) c.2302A>C (p.Asn768His) c.2044A>C (p.Asn682His) c.3322A>C (p.Asn1108His) | |
| 10 | g.75029211A>G | CA377296858 | DUSP29,KAT6B | c.4387A>G (p.Asn1463Asp) c.3838A>G (p.Asn1280Asp) c.3511A>G (p.Asn1171Asp) n.577-2617T>C c.*3622-2617T>C (n.*3622-2617T>C) c.4225A>G (p.Asn1409Asp) c.3349A>G (p.Asn1117Asp) c.2698A>G (p.Asn900Asp) c.2302A>G (p.Asn768Asp) c.2044A>G (p.Asn682Asp) c.3322A>G (p.Asn1108Asp) | |
| 10 | g.75029211A>T | CA377296860 | DUSP29,KAT6B | c.4387A>T (p.Asn1463Tyr) c.3838A>T (p.Asn1280Tyr) c.3511A>T (p.Asn1171Tyr) n.577-2617T>A c.*3622-2617T>A (n.*3622-2617T>A) c.4225A>T (p.Asn1409Tyr) c.3349A>T (p.Asn1117Tyr) c.2698A>T (p.Asn900Tyr) c.2302A>T (p.Asn768Tyr) c.2044A>T (p.Asn682Tyr) c.3322A>T (p.Asn1108Tyr) | |
| 10 | g.75029212A= | CA1920306641 | DUSP29,KAT6B | c.4388A= (p.Asn1463=) c.3839A= (p.Asn1280=) c.3512A= (p.Asn1171=) n.577-2618T= c.*3622-2618T= (n.*3622-2618T=) c.4226A= (p.Asn1409=) c.3350A= (p.Asn1117=) c.2699A= (p.Asn900=) c.2303A= (p.Asn768=) c.2045A= (p.Asn682=) c.3323A= (p.Asn1108=) | |
| 10 | g.75029212A>C | CA377296861 | DUSP29,KAT6B | c.4388A>C (p.Asn1463Thr) c.3839A>C (p.Asn1280Thr) c.3512A>C (p.Asn1171Thr) n.577-2618T>G c.*3622-2618T>G (n.*3622-2618T>G) c.4226A>C (p.Asn1409Thr) c.3350A>C (p.Asn1117Thr) c.2699A>C (p.Asn900Thr) c.2303A>C (p.Asn768Thr) c.2045A>C (p.Asn682Thr) c.3323A>C (p.Asn1108Thr) | |
| 10 | g.75029212A>G | CA377296862 | DUSP29,KAT6B | c.4388A>G (p.Asn1463Ser) c.3839A>G (p.Asn1280Ser) c.3512A>G (p.Asn1171Ser) n.577-2618T>C c.*3622-2618T>C (n.*3622-2618T>C) c.4226A>G (p.Asn1409Ser) c.3350A>G (p.Asn1117Ser) c.2699A>G (p.Asn900Ser) c.2303A>G (p.Asn768Ser) c.2045A>G (p.Asn682Ser) c.3323A>G (p.Asn1108Ser) | |
| 10 | g.75029212A>T | CA377296863 | DUSP29,KAT6B | c.4388A>T (p.Asn1463Ile) c.3839A>T (p.Asn1280Ile) c.3512A>T (p.Asn1171Ile) n.577-2618T>A c.*3622-2618T>A (n.*3622-2618T>A) c.4226A>T (p.Asn1409Ile) c.3350A>T (p.Asn1117Ile) c.2699A>T (p.Asn900Ile) c.2303A>T (p.Asn768Ile) c.2045A>T (p.Asn682Ile) c.3323A>T (p.Asn1108Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.75029213T>A | CA377296864 | DUSP29,KAT6B | c.4389T>A (p.Asn1463Lys) c.3840T>A (p.Asn1280Lys) c.3513T>A (p.Asn1171Lys) n.577-2619A>T c.*3622-2619A>T (n.*3622-2619A>T) c.4227T>A (p.Asn1409Lys) c.3351T>A (p.Asn1117Lys) c.2700T>A (p.Asn900Lys) c.2304T>A (p.Asn768Lys) c.2046T>A (p.Asn682Lys) c.3324T>A (p.Asn1108Lys) | |
| 10 | g.75029213T>C | CA470300388 | DUSP29,KAT6B | c.4389T>C (p.Asn1463=) c.3840T>C (p.Asn1280=) c.3513T>C (p.Asn1171=) n.577-2619A>G c.*3622-2619A>G (n.*3622-2619A>G) c.4227T>C (p.Asn1409=) c.3351T>C (p.Asn1117=) c.2700T>C (p.Asn900=) c.2304T>C (p.Asn768=) c.2046T>C (p.Asn682=) c.3324T>C (p.Asn1108=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.75029213T>G | CA377296865 | DUSP29,KAT6B | c.4389T>G (p.Asn1463Lys) c.3840T>G (p.Asn1280Lys) c.3513T>G (p.Asn1171Lys) n.577-2619A>C c.*3622-2619A>C (n.*3622-2619A>C) c.4227T>G (p.Asn1409Lys) c.3351T>G (p.Asn1117Lys) c.2700T>G (p.Asn900Lys) c.2304T>G (p.Asn768Lys) c.2046T>G (p.Asn682Lys) c.3324T>G (p.Asn1108Lys) | |
| 10 | g.75029213T= | CA1920306642 | DUSP29,KAT6B | c.4389T= (p.Asn1463=) c.3840T= (p.Asn1280=) c.3513T= (p.Asn1171=) n.577-2619A= c.*3622-2619A= (n.*3622-2619A=) c.4227T= (p.Asn1409=) c.3351T= (p.Asn1117=) c.2700T= (p.Asn900=) c.2304T= (p.Asn768=) c.2046T= (p.Asn682=) c.3324T= (p.Asn1108=) | |
| 10 | g.75029215_75029216del | CA2580615516 | DUSP29,KAT6B | c.4391_4392del (p.Val1464AlafsTer22) c.3842_3843del (p.Val1281AlafsTer22) c.3515_3516del (p.Val1172AlafsTer22) n.577-2620_577-2619del c.*3622-2620_*3622-2619del (n.*3622-2620_*3622-2619del) c.4229_4230del (p.Val1410AlafsTer22) c.3353_3354del (p.Val1118AlafsTer22) c.2702_2703del (p.Val901AlafsTer22) c.2306_2307del (p.Val769AlafsTer22) c.2048_2049del (p.Val683AlafsTer22) c.3326_3327del (p.Val1109AlafsTer22) | ClinVar dbSNP |
| 10 | g.75029214G>A | CA5565023 | DUSP29,KAT6B | c.4390G>A (p.Val1464Met) c.3841G>A (p.Val1281Met) c.3514G>A (p.Val1172Met) n.577-2620C>T c.*3622-2620C>T (n.*3622-2620C>T) c.4228G>A (p.Val1410Met) c.3352G>A (p.Val1118Met) c.2701G>A (p.Val901Met) c.2305G>A (p.Val769Met) c.2047G>A (p.Val683Met) c.3325G>A (p.Val1109Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75029214G>C | CA377296866 | DUSP29,KAT6B | c.4390G>C (p.Val1464Leu) c.3841G>C (p.Val1281Leu) c.3514G>C (p.Val1172Leu) n.577-2620C>G c.*3622-2620C>G (n.*3622-2620C>G) c.4228G>C (p.Val1410Leu) c.3352G>C (p.Val1118Leu) c.2701G>C (p.Val901Leu) c.2305G>C (p.Val769Leu) c.2047G>C (p.Val683Leu) c.3325G>C (p.Val1109Leu) | gnomAD v4 |
| 10 | g.75029214G= | CA1920306643 | DUSP29,KAT6B | c.4390G= (p.Val1464=) c.3841G= (p.Val1281=) c.3514G= (p.Val1172=) n.577-2620C= c.*3622-2620C= (n.*3622-2620C=) c.4228G= (p.Val1410=) c.3352G= (p.Val1118=) c.2701G= (p.Val901=) c.2305G= (p.Val769=) c.2047G= (p.Val683=) c.3325G= (p.Val1109=) | |
| 10 | g.75029214G>T | CA377296867 | DUSP29,KAT6B | c.4390G>T (p.Val1464Leu) c.3841G>T (p.Val1281Leu) c.3514G>T (p.Val1172Leu) n.577-2620C>A c.*3622-2620C>A (n.*3622-2620C>A) c.4228G>T (p.Val1410Leu) c.3352G>T (p.Val1118Leu) c.2701G>T (p.Val901Leu) c.2305G>T (p.Val769Leu) c.2047G>T (p.Val683Leu) c.3325G>T (p.Val1109Leu) | |
| 10 | g.75029215T>A | CA377296868 | DUSP29,KAT6B | c.4391T>A (p.Val1464Glu) c.3842T>A (p.Val1281Glu) c.3515T>A (p.Val1172Glu) n.577-2621A>T c.*3622-2621A>T (n.*3622-2621A>T) c.4229T>A (p.Val1410Glu) c.3353T>A (p.Val1118Glu) c.2702T>A (p.Val901Glu) c.2306T>A (p.Val769Glu) c.2048T>A (p.Val683Glu) c.3326T>A (p.Val1109Glu) | |
| 10 | g.75029215T>C | CA377296869 | DUSP29,KAT6B | c.4391T>C (p.Val1464Ala) c.3842T>C (p.Val1281Ala) c.3515T>C (p.Val1172Ala) n.577-2621A>G c.*3622-2621A>G (n.*3622-2621A>G) c.4229T>C (p.Val1410Ala) c.3353T>C (p.Val1118Ala) c.2702T>C (p.Val901Ala) c.2306T>C (p.Val769Ala) c.2048T>C (p.Val683Ala) c.3326T>C (p.Val1109Ala) | gnomAD v4 |
| 10 | g.75029215T>G | CA5565024 | DUSP29,KAT6B | c.4391T>G (p.Val1464Gly) c.3842T>G (p.Val1281Gly) c.3515T>G (p.Val1172Gly) n.577-2621A>C c.*3622-2621A>C (n.*3622-2621A>C) c.4229T>G (p.Val1410Gly) c.3353T>G (p.Val1118Gly) c.2702T>G (p.Val901Gly) c.2306T>G (p.Val769Gly) c.2048T>G (p.Val683Gly) c.3326T>G (p.Val1109Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75029215T= | CA1920306644 | DUSP29,KAT6B | c.4391T= (p.Val1464=) c.3842T= (p.Val1281=) c.3515T= (p.Val1172=) n.577-2621A= c.*3622-2621A= (n.*3622-2621A=) c.4229T= (p.Val1410=) c.3353T= (p.Val1118=) c.2702T= (p.Val901=) c.2306T= (p.Val769=) c.2048T= (p.Val683=) c.3326T= (p.Val1109=) | |
| 10 | g.75029216G>A | CA5565025 | DUSP29,KAT6B | c.4392G>A (p.Val1464=) c.3843G>A (p.Val1281=) c.3516G>A (p.Val1172=) n.577-2622C>T c.*3622-2622C>T (n.*3622-2622C>T) c.4230G>A (p.Val1410=) c.3354G>A (p.Val1118=) c.2703G>A (p.Val901=) c.2307G>A (p.Val769=) c.2049G>A (p.Val683=) c.3327G>A (p.Val1109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75029216G>C | CA470300398 | DUSP29,KAT6B | c.4392G>C (p.Val1464=) c.3843G>C (p.Val1281=) c.3516G>C (p.Val1172=) n.577-2622C>G c.*3622-2622C>G (n.*3622-2622C>G) c.4230G>C (p.Val1410=) c.3354G>C (p.Val1118=) c.2703G>C (p.Val901=) c.2307G>C (p.Val769=) c.2049G>C (p.Val683=) c.3327G>C (p.Val1109=) |