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 |
|---|---|---|---|---|---|
| 4 | g.154320924C>A | CA358505701 | DCHS2 | c.4475G>T (p.Ser1492Ile) n.3109G>T c.3109G>T c.3110G>T (p.Ser1037Ile) c.2144G>T (p.Ser715Ile) c.2036G>T (p.Ser679Ile) c.533G>T (p.Ser178Ile) | |
| 4 | g.154320924C>G | CA358505703 | DCHS2 | c.4475G>C (p.Ser1492Thr) n.3109G>C c.3109G>C c.3110G>C (p.Ser1037Thr) c.2144G>C (p.Ser715Thr) c.2036G>C (p.Ser679Thr) c.533G>C (p.Ser178Thr) | |
| 4 | g.154320924C>T | CA358505705 | DCHS2 | c.4475G>A (p.Ser1492Asn) n.3109G>A c.3109G>A c.3110G>A (p.Ser1037Asn) c.2144G>A (p.Ser715Asn) c.2036G>A (p.Ser679Asn) c.533G>A (p.Ser178Asn) | |
| 4 | g.154320925T>A | CA358505707 | DCHS2 | c.4474A>T (p.Ser1492Cys) n.3108A>T c.3108A>T c.3109A>T (p.Ser1037Cys) c.2143A>T (p.Ser715Cys) c.2035A>T (p.Ser679Cys) c.532A>T (p.Ser178Cys) | |
| 4 | g.154320925T>C | CA358505709 | DCHS2 | c.4474A>G (p.Ser1492Gly) n.3108A>G c.3108A>G c.3109A>G (p.Ser1037Gly) c.2143A>G (p.Ser715Gly) c.2035A>G (p.Ser679Gly) c.532A>G (p.Ser178Gly) | |
| 4 | g.154320925T>G | CA358505711 | DCHS2 | c.4474A>C (p.Ser1492Arg) n.3108A>C c.3108A>C c.3109A>C (p.Ser1037Arg) c.2143A>C (p.Ser715Arg) c.2035A>C (p.Ser679Arg) c.532A>C (p.Ser178Arg) | |
| 4 | g.154320926A>C | CA358505713 | DCHS2 | c.4473T>G (p.Ser1491Arg) n.3107T>G c.3107T>G c.3108T>G (p.Ser1036Arg) c.2142T>G (p.Ser714Arg) c.2034T>G (p.Ser678Arg) c.531T>G (p.Ser177Arg) | |
| 4 | g.154320926A>G | CA442011548 | DCHS2 | c.4473T>C (p.Ser1491=) n.3107T>C c.3107T>C c.3108T>C (p.Ser1036=) c.2142T>C (p.Ser714=) c.2034T>C (p.Ser678=) c.531T>C (p.Ser177=) | |
| 4 | g.154320926A>T | CA358505716 | DCHS2 | c.4473T>A (p.Ser1491Arg) n.3107T>A c.3107T>A c.3108T>A (p.Ser1036Arg) c.2142T>A (p.Ser714Arg) c.2034T>A (p.Ser678Arg) c.531T>A (p.Ser177Arg) | |
| 4 | g.154320927C>A | CA358505722 | DCHS2 | c.4472G>T (p.Ser1491Ile) n.3106G>T c.3106G>T c.3107G>T (p.Ser1036Ile) c.2141G>T (p.Ser714Ile) c.2033G>T (p.Ser678Ile) c.530G>T (p.Ser177Ile) | |
| 4 | g.154320927C= | CA1504821925 | DCHS2 | c.4472G= (p.Ser1491=) n.3106G= c.3106G= c.3107G= (p.Ser1036=) c.2141G= (p.Ser714=) c.2033G= (p.Ser678=) c.530G= (p.Ser177=) | |
| 4 | g.154320927C>G | CA358505720 | DCHS2 | c.4472G>C (p.Ser1491Thr) n.3106G>C c.3106G>C c.3107G>C (p.Ser1036Thr) c.2141G>C (p.Ser714Thr) c.2033G>C (p.Ser678Thr) c.530G>C (p.Ser177Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154320927C>T | CA358505718 | DCHS2 | c.4472G>A (p.Ser1491Asn) n.3106G>A c.3106G>A c.3107G>A (p.Ser1036Asn) c.2141G>A (p.Ser714Asn) c.2033G>A (p.Ser678Asn) c.530G>A (p.Ser177Asn) | |
| 4 | g.154320928T>A | CA358505724 | DCHS2 | c.4471A>T (p.Ser1491Cys) n.3105A>T c.3105A>T c.3106A>T (p.Ser1036Cys) c.2140A>T (p.Ser714Cys) c.2032A>T (p.Ser678Cys) c.529A>T (p.Ser177Cys) | |
| 4 | g.154320928T>C | CA358505726 | DCHS2 | c.4471A>G (p.Ser1491Gly) n.3105A>G c.3105A>G c.3106A>G (p.Ser1036Gly) c.2140A>G (p.Ser714Gly) c.2032A>G (p.Ser678Gly) c.529A>G (p.Ser177Gly) | dbSNP |
| 4 | g.154320928T>G | CA3112856 | DCHS2 | c.4471A>C (p.Ser1491Arg) n.3105A>C c.3105A>C c.3106A>C (p.Ser1036Arg) c.2140A>C (p.Ser714Arg) c.2032A>C (p.Ser678Arg) c.529A>C (p.Ser177Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154320928T= | CA1504821926 | DCHS2 | c.4471A= (p.Ser1491=) n.3105A= c.3105A= c.3106A= (p.Ser1036=) c.2140A= (p.Ser714=) c.2032A= (p.Ser678=) c.529A= (p.Ser177=) | |
| 4 | g.154320929C>A | CA442011561 | DCHS2 | c.4470G>T (p.Leu1490=) n.3104G>T c.3104G>T c.3105G>T (p.Leu1035=) c.2139G>T (p.Leu713=) c.2031G>T (p.Leu677=) c.528G>T (p.Leu176=) | |
| 4 | g.154320929C>G | CA442011559 | DCHS2 | c.4470G>C (p.Leu1490=) n.3104G>C c.3104G>C c.3105G>C (p.Leu1035=) c.2139G>C (p.Leu713=) c.2031G>C (p.Leu677=) c.528G>C (p.Leu176=) | |
| 4 | g.154320929C>T | CA442011558 | DCHS2 | c.4470G>A (p.Leu1490=) n.3104G>A c.3104G>A c.3105G>A (p.Leu1035=) c.2139G>A (p.Leu713=) c.2031G>A (p.Leu677=) c.528G>A (p.Leu176=) | |
| 4 | g.154320930A>C | CA358505729 | DCHS2 | c.4469T>G (p.Leu1490Arg) n.3103T>G c.3103T>G c.3104T>G (p.Leu1035Arg) c.2138T>G (p.Leu713Arg) c.2030T>G (p.Leu677Arg) c.527T>G (p.Leu176Arg) | |
| 4 | g.154320930A>G | CA358505730 | DCHS2 | c.4469T>C (p.Leu1490Pro) n.3103T>C c.3103T>C c.3104T>C (p.Leu1035Pro) c.2138T>C (p.Leu713Pro) c.2030T>C (p.Leu677Pro) c.527T>C (p.Leu176Pro) | |
| 4 | g.154320930A>T | CA358505732 | DCHS2 | c.4469T>A (p.Leu1490Gln) n.3103T>A c.3103T>A c.3104T>A (p.Leu1035Gln) c.2138T>A (p.Leu713Gln) c.2030T>A (p.Leu677Gln) c.527T>A (p.Leu176Gln) | |
| 4 | g.154320931G>A | CA108712139 | DCHS2 | c.4468C>T (p.Leu1490=) n.3102C>T c.3102C>T c.3103C>T (p.Leu1035=) c.2137C>T (p.Leu713=) c.2029C>T (p.Leu677=) c.526C>T (p.Leu176=) | dbSNP gnomAD v4 |
| 4 | g.154320931G>C | CA358505735 | DCHS2 | c.4468C>G (p.Leu1490Val) n.3102C>G c.3102C>G c.3103C>G (p.Leu1035Val) c.2137C>G (p.Leu713Val) c.2029C>G (p.Leu677Val) c.526C>G (p.Leu176Val) | |
| 4 | g.154320931G= | CA1504821927 | DCHS2 | c.4468C= (p.Leu1490=) n.3102C= c.3102C= c.3103C= (p.Leu1035=) c.2137C= (p.Leu713=) c.2029C= (p.Leu677=) c.526C= (p.Leu176=) | |
| 4 | g.154320931G>T | CA358505737 | DCHS2 | c.4468C>A (p.Leu1490Met) n.3102C>A c.3102C>A c.3103C>A (p.Leu1035Met) c.2137C>A (p.Leu713Met) c.2029C>A (p.Leu677Met) c.526C>A (p.Leu176Met) | |
| 4 | g.154320932G>A | CA442011567 | DCHS2 | c.4467C>T (p.Ser1489=) n.3101C>T c.3101C>T c.3102C>T (p.Ser1034=) c.2136C>T (p.Ser712=) c.2028C>T (p.Ser676=) c.525C>T (p.Ser175=) | |
| 4 | g.154320932G>C | CA442011570 | DCHS2 | c.4467C>G (p.Ser1489=) n.3101C>G c.3101C>G c.3102C>G (p.Ser1034=) c.2136C>G (p.Ser712=) c.2028C>G (p.Ser676=) c.525C>G (p.Ser175=) | |
| 4 | g.154320932G>T | CA442011568 | DCHS2 | c.4467C>A (p.Ser1489=) n.3101C>A c.3101C>A c.3102C>A (p.Ser1034=) c.2136C>A (p.Ser712=) c.2028C>A (p.Ser676=) c.525C>A (p.Ser175=) | |
| 4 | g.154320933G>A | CA358505739 | DCHS2 | c.4466C>T (p.Ser1489Phe) n.3100C>T c.3100C>T c.3101C>T (p.Ser1034Phe) c.2135C>T (p.Ser712Phe) c.2027C>T (p.Ser676Phe) c.524C>T (p.Ser175Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.154320933G>C | CA358505740 | DCHS2 | c.4466C>G (p.Ser1489Cys) n.3100C>G c.3100C>G c.3101C>G (p.Ser1034Cys) c.2135C>G (p.Ser712Cys) c.2027C>G (p.Ser676Cys) c.524C>G (p.Ser175Cys) | |
| 4 | g.154320933G= | CA1504821928 | DCHS2 | c.4466C= (p.Ser1489=) n.3100C= c.3100C= c.3101C= (p.Ser1034=) c.2135C= (p.Ser712=) c.2027C= (p.Ser676=) c.524C= (p.Ser175=) | |
| 4 | g.154320933G>T | CA358505743 | DCHS2 | c.4466C>A (p.Ser1489Tyr) n.3100C>A c.3100C>A c.3101C>A (p.Ser1034Tyr) c.2135C>A (p.Ser712Tyr) c.2027C>A (p.Ser676Tyr) c.524C>A (p.Ser175Tyr) | |
| 4 | g.154320934A>C | CA358505747 | DCHS2 | c.4465T>G (p.Ser1489Ala) n.3099T>G c.3099T>G c.3100T>G (p.Ser1034Ala) c.2134T>G (p.Ser712Ala) c.2026T>G (p.Ser676Ala) c.523T>G (p.Ser175Ala) | |
| 4 | g.154320934A>G | CA358505749 | DCHS2 | c.4465T>C (p.Ser1489Pro) n.3099T>C c.3099T>C c.3100T>C (p.Ser1034Pro) c.2134T>C (p.Ser712Pro) c.2026T>C (p.Ser676Pro) c.523T>C (p.Ser175Pro) | |
| 4 | g.154320934A>T | CA358505745 | DCHS2 | c.4465T>A (p.Ser1489Thr) n.3099T>A c.3099T>A c.3100T>A (p.Ser1034Thr) c.2134T>A (p.Ser712Thr) c.2026T>A (p.Ser676Thr) c.523T>A (p.Ser175Thr) | |
| 4 | g.154320935A>C | CA442011578 | DCHS2 | c.4464T>G (p.Leu1488=) n.3098T>G c.3098T>G c.3099T>G (p.Leu1033=) c.2133T>G (p.Leu711=) c.2025T>G (p.Leu675=) c.522T>G (p.Leu174=) | |
| 4 | g.154320935A>G | CA442011580 | DCHS2 | c.4464T>C (p.Leu1488=) n.3098T>C c.3098T>C c.3099T>C (p.Leu1033=) c.2133T>C (p.Leu711=) c.2025T>C (p.Leu675=) c.522T>C (p.Leu174=) | |
| 4 | g.154320935A>T | CA442011581 | DCHS2 | c.4464T>A (p.Leu1488=) n.3098T>A c.3098T>A c.3099T>A (p.Leu1033=) c.2133T>A (p.Leu711=) c.2025T>A (p.Leu675=) c.522T>A (p.Leu174=) | |
| 4 | g.154320936A>C | CA358505751 | DCHS2 | c.4463T>G (p.Leu1488Arg) n.3097T>G c.3097T>G c.3098T>G (p.Leu1033Arg) c.2132T>G (p.Leu711Arg) c.2024T>G (p.Leu675Arg) c.521T>G (p.Leu174Arg) | |
| 4 | g.154320936A>G | CA358505752 | DCHS2 | c.4463T>C (p.Leu1488Pro) n.3097T>C c.3097T>C c.3098T>C (p.Leu1033Pro) c.2132T>C (p.Leu711Pro) c.2024T>C (p.Leu675Pro) c.521T>C (p.Leu174Pro) | |
| 4 | g.154320936A>T | CA358505753 | DCHS2 | c.4463T>A (p.Leu1488His) n.3097T>A c.3097T>A c.3098T>A (p.Leu1033His) c.2132T>A (p.Leu711His) c.2024T>A (p.Leu675His) c.521T>A (p.Leu174His) | |
| 4 | g.154320937G>A | CA108712140 | DCHS2 | c.4462C>T (p.Leu1488Phe) n.3096C>T c.3096C>T c.3097C>T (p.Leu1033Phe) c.2131C>T (p.Leu711Phe) c.2023C>T (p.Leu675Phe) c.520C>T (p.Leu174Phe) | dbSNP gnomAD v4 |
| 4 | g.154320937G>C | CA358505757 | DCHS2 | c.4462C>G (p.Leu1488Val) n.3096C>G c.3096C>G c.3097C>G (p.Leu1033Val) c.2131C>G (p.Leu711Val) c.2023C>G (p.Leu675Val) c.520C>G (p.Leu174Val) | dbSNP |
| 4 | g.154320937G= | CA1504821929 | DCHS2 | c.4462C= (p.Leu1488=) n.3096C= c.3096C= c.3097C= (p.Leu1033=) c.2131C= (p.Leu711=) c.2023C= (p.Leu675=) c.520C= (p.Leu174=) | |
| 4 | g.154320937G>T | CA358505759 | DCHS2 | c.4462C>A (p.Leu1488Ile) n.3096C>A c.3096C>A c.3097C>A (p.Leu1033Ile) c.2131C>A (p.Leu711Ile) c.2023C>A (p.Leu675Ile) c.520C>A (p.Leu174Ile) | |
| 4 | g.154320938G>A | CA108712154 | DCHS2 | c.4461C>T (p.Asn1487=) n.3095C>T c.3095C>T c.3096C>T (p.Asn1032=) c.2130C>T (p.Asn710=) c.2022C>T (p.Asn674=) c.519C>T (p.Asn173=) | dbSNP |
| 4 | g.154320938G>C | CA358505762 | DCHS2 | c.4461C>G (p.Asn1487Lys) n.3095C>G c.3095C>G c.3096C>G (p.Asn1032Lys) c.2130C>G (p.Asn710Lys) c.2022C>G (p.Asn674Lys) c.519C>G (p.Asn173Lys) | |
| 4 | g.154320938G= | CA1504821930 | DCHS2 | c.4461C= (p.Asn1487=) n.3095C= c.3095C= c.3096C= (p.Asn1032=) c.2130C= (p.Asn710=) c.2022C= (p.Asn674=) c.519C= (p.Asn173=) | |
| 4 | g.154320938G>T | CA358505764 | DCHS2 | c.4461C>A (p.Asn1487Lys) n.3095C>A c.3095C>A c.3096C>A (p.Asn1032Lys) c.2130C>A (p.Asn710Lys) c.2022C>A (p.Asn674Lys) c.519C>A (p.Asn173Lys) | |
| 4 | g.154320938_154320939delinsGT | CA1504821931 | DCHS2 | c.4460_4461delinsAC (p.Asn1487=) n.3094_3095delinsAC c.3094_3095delinsAC c.3095_3096delinsAC (p.Asn1032=) c.2129_2130delinsAC (p.Asn710=) c.2021_2022delinsAC (p.Asn674=) c.518_519delinsAC (p.Asn173=) | |
| 4 | g.154320939T>A | CA358505767 | DCHS2 | c.4460A>T (p.Asn1487Ile) n.3094A>T c.3094A>T c.3095A>T (p.Asn1032Ile) c.2129A>T (p.Asn710Ile) c.2021A>T (p.Asn674Ile) c.518A>T (p.Asn173Ile) | gnomAD v4 |
| 4 | g.154320939T>C | CA3112857 | DCHS2 | c.4460A>G (p.Asn1487Ser) n.3094A>G c.3094A>G c.3095A>G (p.Asn1032Ser) c.2129A>G (p.Asn710Ser) c.2021A>G (p.Asn674Ser) c.518A>G (p.Asn173Ser) | dbSNP ExAC gnomAD v4 |
| 4 | g.154320939T>G | CA358505770 | DCHS2 | c.4460A>C (p.Asn1487Thr) n.3094A>C c.3094A>C c.3095A>C (p.Asn1032Thr) c.2129A>C (p.Asn710Thr) c.2021A>C (p.Asn674Thr) c.518A>C (p.Asn173Thr) | |
| 4 | g.154320939T= | CA1504821932 | DCHS2 | c.4460A= (p.Asn1487=) n.3094A= c.3094A= c.3095A= (p.Asn1032=) c.2129A= (p.Asn710=) c.2021A= (p.Asn674=) c.518A= (p.Asn173=) | |
| 4 | g.154320943del | CA555971340 | DCHS2 | c.4460del (p.Asn1487ThrfsTer4) n.3094del c.3094del c.3095del (p.Asn1032ThrfsTer4) c.2129del (p.Asn710ThrfsTer4) c.2021del (p.Asn674ThrfsTer4) c.518del (p.Asn173ThrfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320940T>A | CA358505773 | DCHS2 | c.4459A>T (p.Asn1487Tyr) n.3093A>T c.3093A>T c.3094A>T (p.Asn1032Tyr) c.2128A>T (p.Asn710Tyr) c.2020A>T (p.Asn674Tyr) c.517A>T (p.Asn173Tyr) | |
| 4 | g.154320940T>C | CA358505774 | DCHS2 | c.4459A>G (p.Asn1487Asp) n.3093A>G c.3093A>G c.3094A>G (p.Asn1032Asp) c.2128A>G (p.Asn710Asp) c.2020A>G (p.Asn674Asp) c.517A>G (p.Asn173Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154320940T>G | CA358505772 | DCHS2 | c.4459A>C (p.Asn1487His) n.3093A>C c.3093A>C c.3094A>C (p.Asn1032His) c.2128A>C (p.Asn710His) c.2020A>C (p.Asn674His) c.517A>C (p.Asn173His) | |
| 4 | g.154320940T= | CA1504821933 | DCHS2 | c.4459A= (p.Asn1487=) n.3093A= c.3093A= c.3094A= (p.Asn1032=) c.2128A= (p.Asn710=) c.2020A= (p.Asn674=) c.517A= (p.Asn173=) | |
| 4 | g.154320941T>A | CA358505775 | DCHS2 | c.4458A>T (p.Lys1486Asn) n.3092A>T c.3092A>T c.3093A>T (p.Lys1031Asn) c.2127A>T (p.Lys709Asn) c.2019A>T (p.Lys673Asn) c.516A>T (p.Lys172Asn) | |
| 4 | g.154320941T>C | CA442011598 | DCHS2 | c.4458A>G (p.Lys1486=) n.3092A>G c.3092A>G c.3093A>G (p.Lys1031=) c.2127A>G (p.Lys709=) c.2019A>G (p.Lys673=) c.516A>G (p.Lys172=) | |
| 4 | g.154320941T>G | CA358505776 | DCHS2 | c.4458A>C (p.Lys1486Asn) n.3092A>C c.3092A>C c.3093A>C (p.Lys1031Asn) c.2127A>C (p.Lys709Asn) c.2019A>C (p.Lys673Asn) c.516A>C (p.Lys172Asn) | |
| 4 | g.154320942T>A | CA358505777 | DCHS2 | c.4457A>T (p.Lys1486Ile) n.3091A>T c.3091A>T c.3092A>T (p.Lys1031Ile) c.2126A>T (p.Lys709Ile) c.2018A>T (p.Lys673Ile) c.515A>T (p.Lys172Ile) | |
| 4 | g.154320942T>C | CA358505778 | DCHS2 | c.4457A>G (p.Lys1486Arg) n.3091A>G c.3091A>G c.3092A>G (p.Lys1031Arg) c.2126A>G (p.Lys709Arg) c.2018A>G (p.Lys673Arg) c.515A>G (p.Lys172Arg) | |
| 4 | g.154320942T>G | CA358505779 | DCHS2 | c.4457A>C (p.Lys1486Thr) n.3091A>C c.3091A>C c.3092A>C (p.Lys1031Thr) c.2126A>C (p.Lys709Thr) c.2018A>C (p.Lys673Thr) c.515A>C (p.Lys172Thr) | |
| 4 | g.154320943T>A | CA358505782 | DCHS2 | c.4456A>T (p.Lys1486Ter) n.3090A>T c.3090A>T c.3091A>T (p.Lys1031Ter) c.2125A>T (p.Lys709Ter) c.2017A>T (p.Lys673Ter) c.514A>T (p.Lys172Ter) | |
| 4 | g.154320943T>C | CA358505780 | DCHS2 | c.4456A>G (p.Lys1486Glu) n.3090A>G c.3090A>G c.3091A>G (p.Lys1031Glu) c.2125A>G (p.Lys709Glu) c.2017A>G (p.Lys673Glu) c.514A>G (p.Lys172Glu) | |
| 4 | g.154320943T>G | CA358505781 | DCHS2 | c.4456A>C (p.Lys1486Gln) n.3090A>C c.3090A>C c.3091A>C (p.Lys1031Gln) c.2125A>C (p.Lys709Gln) c.2017A>C (p.Lys673Gln) c.514A>C (p.Lys172Gln) | |
| 4 | g.154320944G>A | CA108712155 | DCHS2 | c.4455C>T (p.Ser1485=) n.3089C>T c.3089C>T c.3090C>T (p.Ser1030=) c.2124C>T (p.Ser708=) c.2016C>T (p.Ser672=) c.513C>T (p.Ser171=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154320944G>C | CA358505783 | DCHS2 | c.4455C>G (p.Ser1485Arg) n.3089C>G c.3089C>G c.3090C>G (p.Ser1030Arg) c.2124C>G (p.Ser708Arg) c.2016C>G (p.Ser672Arg) c.513C>G (p.Ser171Arg) | |
| 4 | g.154320944G= | CA1504821934 | DCHS2 | c.4455C= (p.Ser1485=) n.3089C= c.3089C= c.3090C= (p.Ser1030=) c.2124C= (p.Ser708=) c.2016C= (p.Ser672=) c.513C= (p.Ser171=) | |
| 4 | g.154320944G>T | CA358505784 | DCHS2 | c.4455C>A (p.Ser1485Arg) n.3089C>A c.3089C>A c.3090C>A (p.Ser1030Arg) c.2124C>A (p.Ser708Arg) c.2016C>A (p.Ser672Arg) c.513C>A (p.Ser171Arg) | dbSNP |
| 4 | g.154320945C>A | CA358505785 | DCHS2 | c.4454G>T (p.Ser1485Ile) n.3088G>T c.3088G>T c.3089G>T (p.Ser1030Ile) c.2123G>T (p.Ser708Ile) c.2015G>T (p.Ser672Ile) c.512G>T (p.Ser171Ile) | |
| 4 | g.154320945C= | CA1504821935 | DCHS2 | c.4454G= (p.Ser1485=) n.3088G= c.3088G= c.3089G= (p.Ser1030=) c.2123G= (p.Ser708=) c.2015G= (p.Ser672=) c.512G= (p.Ser171=) | |
| 4 | g.154320945C>G | CA358505786 | DCHS2 | c.4454G>C (p.Ser1485Thr) n.3088G>C c.3088G>C c.3089G>C (p.Ser1030Thr) c.2123G>C (p.Ser708Thr) c.2015G>C (p.Ser672Thr) c.512G>C (p.Ser171Thr) | |
| 4 | g.154320945C>T | CA358505787 | DCHS2 | c.4454G>A (p.Ser1485Asn) n.3088G>A c.3088G>A c.3089G>A (p.Ser1030Asn) c.2123G>A (p.Ser708Asn) c.2015G>A (p.Ser672Asn) c.512G>A (p.Ser171Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320946T>A | CA358505790 | DCHS2 | c.4453A>T (p.Ser1485Cys) n.3087A>T c.3087A>T c.3088A>T (p.Ser1030Cys) c.2122A>T (p.Ser708Cys) c.2014A>T (p.Ser672Cys) c.511A>T (p.Ser171Cys) | |
| 4 | g.154320946T>C | CA358505789 | DCHS2 | c.4453A>G (p.Ser1485Gly) n.3087A>G c.3087A>G c.3088A>G (p.Ser1030Gly) c.2122A>G (p.Ser708Gly) c.2014A>G (p.Ser672Gly) c.511A>G (p.Ser171Gly) | |
| 4 | g.154320946T>G | CA358505788 | DCHS2 | c.4453A>C (p.Ser1485Arg) n.3087A>C c.3087A>C c.3088A>C (p.Ser1030Arg) c.2122A>C (p.Ser708Arg) c.2014A>C (p.Ser672Arg) c.511A>C (p.Ser171Arg) | |
| 4 | g.154320947A>C | CA358505791 | DCHS2 | c.4452T>G (p.His1484Gln) n.3086T>G c.3086T>G c.3087T>G (p.His1029Gln) c.2121T>G (p.His707Gln) c.2013T>G (p.His671Gln) c.510T>G (p.His170Gln) | |
| 4 | g.154320947A>G | CA442011623 | DCHS2 | c.4452T>C (p.His1484=) n.3086T>C c.3086T>C c.3087T>C (p.His1029=) c.2121T>C (p.His707=) c.2013T>C (p.His671=) c.510T>C (p.His170=) | |
| 4 | g.154320947A>T | CA358505792 | DCHS2 | c.4452T>A (p.His1484Gln) n.3086T>A c.3086T>A c.3087T>A (p.His1029Gln) c.2121T>A (p.His707Gln) c.2013T>A (p.His671Gln) c.510T>A (p.His170Gln) | |
| 4 | g.154320948T>A | CA358505793 | DCHS2 | c.4451A>T (p.His1484Leu) n.3085A>T c.3085A>T c.3086A>T (p.His1029Leu) c.2120A>T (p.His707Leu) c.2012A>T (p.His671Leu) c.509A>T (p.His170Leu) | |
| 4 | g.154320948T>C | CA358505794 | DCHS2 | c.4451A>G (p.His1484Arg) n.3085A>G c.3085A>G c.3086A>G (p.His1029Arg) c.2120A>G (p.His707Arg) c.2012A>G (p.His671Arg) c.509A>G (p.His170Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320948T>G | CA358505795 | DCHS2 | c.4451A>C (p.His1484Pro) n.3085A>C c.3085A>C c.3086A>C (p.His1029Pro) c.2120A>C (p.His707Pro) c.2012A>C (p.His671Pro) c.509A>C (p.His170Pro) | |
| 4 | g.154320948T= | CA1504821936 | DCHS2 | c.4451A= (p.His1484=) n.3085A= c.3085A= c.3086A= (p.His1029=) c.2120A= (p.His707=) c.2012A= (p.His671=) c.509A= (p.His170=) | |
| 4 | g.154320949G>A | CA358505798 | DCHS2 | c.4450C>T (p.His1484Tyr) n.3084C>T c.3084C>T c.3085C>T (p.His1029Tyr) c.2119C>T (p.His707Tyr) c.2011C>T (p.His671Tyr) c.508C>T (p.His170Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154320949G>C | CA358505797 | DCHS2 | c.4450C>G (p.His1484Asp) n.3084C>G c.3084C>G c.3085C>G (p.His1029Asp) c.2119C>G (p.His707Asp) c.2011C>G (p.His671Asp) c.508C>G (p.His170Asp) | |
| 4 | g.154320949G= | CA1504821937 | DCHS2 | c.4450C= (p.His1484=) n.3084C= c.3084C= c.3085C= (p.His1029=) c.2119C= (p.His707=) c.2011C= (p.His671=) c.508C= (p.His170=) | |
| 4 | g.154320949G>T | CA358505796 | DCHS2 | c.4450C>A (p.His1484Asn) n.3084C>A c.3084C>A c.3085C>A (p.His1029Asn) c.2119C>A (p.His707Asn) c.2011C>A (p.His671Asn) c.508C>A (p.His170Asn) | |
| 4 | g.154320950G>A | CA3112858 | DCHS2 | c.4449C>T (p.Asp1483=) n.3083C>T c.3083C>T c.3084C>T (p.Asp1028=) c.2118C>T (p.Asp706=) c.2010C>T (p.Asp670=) c.507C>T (p.Asp169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320950G>C | CA358505799 | DCHS2 | c.4449C>G (p.Asp1483Glu) n.3083C>G c.3083C>G c.3084C>G (p.Asp1028Glu) c.2118C>G (p.Asp706Glu) c.2010C>G (p.Asp670Glu) c.507C>G (p.Asp169Glu) | |
| 4 | g.154320950G= | CA1504821938 | DCHS2 | c.4449C= (p.Asp1483=) n.3083C= c.3083C= c.3084C= (p.Asp1028=) c.2118C= (p.Asp706=) c.2010C= (p.Asp670=) c.507C= (p.Asp169=) | |
| 4 | g.154320950G>T | CA358505800 | DCHS2 | c.4449C>A (p.Asp1483Glu) n.3083C>A c.3083C>A c.3084C>A (p.Asp1028Glu) c.2118C>A (p.Asp706Glu) c.2010C>A (p.Asp670Glu) c.507C>A (p.Asp169Glu) | |
| 4 | g.154320951T>A | CA358505801 | DCHS2 | c.4448A>T (p.Asp1483Val) n.3082A>T c.3082A>T c.3083A>T (p.Asp1028Val) c.2117A>T (p.Asp706Val) c.2009A>T (p.Asp670Val) c.506A>T (p.Asp169Val) | |
| 4 | g.154320951T>C | CA358505802 | DCHS2 | c.4448A>G (p.Asp1483Gly) n.3082A>G c.3082A>G c.3083A>G (p.Asp1028Gly) c.2117A>G (p.Asp706Gly) c.2009A>G (p.Asp670Gly) c.506A>G (p.Asp169Gly) | |
| 4 | g.154320951T>G | CA358505803 | DCHS2 | c.4448A>C (p.Asp1483Ala) n.3082A>C c.3082A>C c.3083A>C (p.Asp1028Ala) c.2117A>C (p.Asp706Ala) c.2009A>C (p.Asp670Ala) c.506A>C (p.Asp169Ala) | |
| 4 | g.154320952C>A | CA358505806 | DCHS2 | c.4447G>T (p.Asp1483Tyr) n.3081G>T c.3081G>T c.3082G>T (p.Asp1028Tyr) c.2116G>T (p.Asp706Tyr) c.2008G>T (p.Asp670Tyr) c.505G>T (p.Asp169Tyr) | |
| 4 | g.154320952C= | CA1504821939 | DCHS2 | c.4447G= (p.Asp1483=) n.3081G= c.3081G= c.3082G= (p.Asp1028=) c.2116G= (p.Asp706=) c.2008G= (p.Asp670=) c.505G= (p.Asp169=) | |
| 4 | g.154320952C>G | CA358505804 | DCHS2 | c.4447G>C (p.Asp1483His) n.3081G>C c.3081G>C c.3082G>C (p.Asp1028His) c.2116G>C (p.Asp706His) c.2008G>C (p.Asp670His) c.505G>C (p.Asp169His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154320952C>T | CA358505805 | DCHS2 | c.4447G>A (p.Asp1483Asn) n.3081G>A c.3081G>A c.3082G>A (p.Asp1028Asn) c.2116G>A (p.Asp706Asn) c.2008G>A (p.Asp670Asn) c.505G>A (p.Asp169Asn) | gnomAD v4 |
| 4 | g.154320953T>A | CA442011649 | DCHS2 | c.4446A>T (p.Thr1482=) n.3080A>T c.3080A>T c.3081A>T (p.Thr1027=) c.2115A>T (p.Thr705=) c.2007A>T (p.Thr669=) c.504A>T (p.Thr168=) | |
| 4 | g.154320953T>C | CA442011642 | DCHS2 | c.4446A>G (p.Thr1482=) n.3080A>G c.3080A>G c.3081A>G (p.Thr1027=) c.2115A>G (p.Thr705=) c.2007A>G (p.Thr669=) c.504A>G (p.Thr168=) | |
| 4 | g.154320953T>G | CA442011647 | DCHS2 | c.4446A>C (p.Thr1482=) n.3080A>C c.3080A>C c.3081A>C (p.Thr1027=) c.2115A>C (p.Thr705=) c.2007A>C (p.Thr669=) c.504A>C (p.Thr168=) | |
| 4 | g.154320954G>A | CA108712165 | DCHS2 | c.4445C>T (p.Thr1482Ile) n.3079C>T c.3079C>T c.3080C>T (p.Thr1027Ile) c.2114C>T (p.Thr705Ile) c.2006C>T (p.Thr669Ile) c.503C>T (p.Thr168Ile) | dbSNP gnomAD v4 |
| 4 | g.154320954G>C | CA358505807 | DCHS2 | c.4445C>G (p.Thr1482Arg) n.3079C>G c.3079C>G c.3080C>G (p.Thr1027Arg) c.2114C>G (p.Thr705Arg) c.2006C>G (p.Thr669Arg) c.503C>G (p.Thr168Arg) | |
| 4 | g.154320954G= | CA1504821940 | DCHS2 | c.4445C= (p.Thr1482=) n.3079C= c.3079C= c.3080C= (p.Thr1027=) c.2114C= (p.Thr705=) c.2006C= (p.Thr669=) c.503C= (p.Thr168=) | |
| 4 | g.154320954G>T | CA358505808 | DCHS2 | c.4445C>A (p.Thr1482Lys) n.3079C>A c.3079C>A c.3080C>A (p.Thr1027Lys) c.2114C>A (p.Thr705Lys) c.2006C>A (p.Thr669Lys) c.503C>A (p.Thr168Lys) | gnomAD v4 |
| 4 | g.154320955T>A | CA358505809 | DCHS2 | c.4444A>T (p.Thr1482Ser) n.3078A>T c.3078A>T c.3079A>T (p.Thr1027Ser) c.2113A>T (p.Thr705Ser) c.2005A>T (p.Thr669Ser) c.502A>T (p.Thr168Ser) | |
| 4 | g.154320955T>C | CA358505810 | DCHS2 | c.4444A>G (p.Thr1482Ala) n.3078A>G c.3078A>G c.3079A>G (p.Thr1027Ala) c.2113A>G (p.Thr705Ala) c.2005A>G (p.Thr669Ala) c.502A>G (p.Thr168Ala) | |
| 4 | g.154320955T>G | CA358505811 | DCHS2 | c.4444A>C (p.Thr1482Pro) n.3078A>C c.3078A>C c.3079A>C (p.Thr1027Pro) c.2113A>C (p.Thr705Pro) c.2005A>C (p.Thr669Pro) c.502A>C (p.Thr168Pro) | |
| 4 | g.154320956A>C | CA442011659 | DCHS2 | c.4443T>G (p.Thr1481=) n.3077T>G c.3077T>G c.3078T>G (p.Thr1026=) c.2112T>G (p.Thr704=) c.2004T>G (p.Thr668=) c.501T>G (p.Thr167=) | |
| 4 | g.154320956A>G | CA442011662 | DCHS2 | c.4443T>C (p.Thr1481=) n.3077T>C c.3077T>C c.3078T>C (p.Thr1026=) c.2112T>C (p.Thr704=) c.2004T>C (p.Thr668=) c.501T>C (p.Thr167=) | gnomAD v4 |
| 4 | g.154320956A>T | CA442011663 | DCHS2 | c.4443T>A (p.Thr1481=) n.3077T>A c.3077T>A c.3078T>A (p.Thr1026=) c.2112T>A (p.Thr704=) c.2004T>A (p.Thr668=) c.501T>A (p.Thr167=) | |
| 4 | g.154320957G>A | CA358505812 | DCHS2 | c.4442C>T (p.Thr1481Ile) n.3076C>T c.3076C>T c.3077C>T (p.Thr1026Ile) c.2111C>T (p.Thr704Ile) c.2003C>T (p.Thr668Ile) c.500C>T (p.Thr167Ile) | dbSNP gnomAD v4 |
| 4 | g.154320957G>C | CA358505813 | DCHS2 | c.4442C>G (p.Thr1481Ser) n.3076C>G c.3076C>G c.3077C>G (p.Thr1026Ser) c.2111C>G (p.Thr704Ser) c.2003C>G (p.Thr668Ser) c.500C>G (p.Thr167Ser) | |
| 4 | g.154320957G= | CA1504821941 | DCHS2 | c.4442C= (p.Thr1481=) n.3076C= c.3076C= c.3077C= (p.Thr1026=) c.2111C= (p.Thr704=) c.2003C= (p.Thr668=) c.500C= (p.Thr167=) | |
| 4 | g.154320957G>T | CA358505814 | DCHS2 | c.4442C>A (p.Thr1481Asn) n.3076C>A c.3076C>A c.3077C>A (p.Thr1026Asn) c.2111C>A (p.Thr704Asn) c.2003C>A (p.Thr668Asn) c.500C>A (p.Thr167Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154320958T>A | CA358505815 | DCHS2 | c.4441A>T (p.Thr1481Ser) n.3075A>T c.3075A>T c.3076A>T (p.Thr1026Ser) c.2110A>T (p.Thr704Ser) c.2002A>T (p.Thr668Ser) c.499A>T (p.Thr167Ser) | |
| 4 | g.154320958T>C | CA358505816 | DCHS2 | c.4441A>G (p.Thr1481Ala) n.3075A>G c.3075A>G c.3076A>G (p.Thr1026Ala) c.2110A>G (p.Thr704Ala) c.2002A>G (p.Thr668Ala) c.499A>G (p.Thr167Ala) | |
| 4 | g.154320958T>G | CA358505817 | DCHS2 | c.4441A>C (p.Thr1481Pro) n.3075A>C c.3075A>C c.3076A>C (p.Thr1026Pro) c.2110A>C (p.Thr704Pro) c.2002A>C (p.Thr668Pro) c.499A>C (p.Thr167Pro) | |
| 4 | g.154320959A>C | CA358505818 | DCHS2 | c.4440T>G (p.Ile1480Met) n.3074T>G c.3074T>G c.3075T>G (p.Ile1025Met) c.2109T>G (p.Ile703Met) c.2001T>G (p.Ile667Met) c.498T>G (p.Ile166Met) | |
| 4 | g.154320959A>G | CA442011677 | DCHS2 | c.4440T>C (p.Ile1480=) n.3074T>C c.3074T>C c.3075T>C (p.Ile1025=) c.2109T>C (p.Ile703=) c.2001T>C (p.Ile667=) c.498T>C (p.Ile166=) | |
| 4 | g.154320959A>T | CA442011681 | DCHS2 | c.4440T>A (p.Ile1480=) n.3074T>A c.3074T>A c.3075T>A (p.Ile1025=) c.2109T>A (p.Ile703=) c.2001T>A (p.Ile667=) c.498T>A (p.Ile166=) | |
| 4 | g.154320960A>C | CA358505821 | DCHS2 | c.4439T>G (p.Ile1480Ser) n.3073T>G c.3073T>G c.3074T>G (p.Ile1025Ser) c.2108T>G (p.Ile703Ser) c.2000T>G (p.Ile667Ser) c.497T>G (p.Ile166Ser) | |
| 4 | g.154320960A>G | CA358505819 | DCHS2 | c.4439T>C (p.Ile1480Thr) n.3073T>C c.3073T>C c.3074T>C (p.Ile1025Thr) c.2108T>C (p.Ile703Thr) c.2000T>C (p.Ile667Thr) c.497T>C (p.Ile166Thr) | |
| 4 | g.154320960A>T | CA358505820 | DCHS2 | c.4439T>A (p.Ile1480Asn) n.3073T>A c.3073T>A c.3074T>A (p.Ile1025Asn) c.2108T>A (p.Ile703Asn) c.2000T>A (p.Ile667Asn) c.497T>A (p.Ile166Asn) | |
| 4 | g.154320961T>A | CA358505822 | DCHS2 | c.4438A>T (p.Ile1480Phe) n.3072A>T c.3072A>T c.3073A>T (p.Ile1025Phe) c.2107A>T (p.Ile703Phe) c.1999A>T (p.Ile667Phe) c.496A>T (p.Ile166Phe) | |
| 4 | g.154320961T>C | CA358505823 | DCHS2 | c.4438A>G (p.Ile1480Val) n.3072A>G c.3072A>G c.3073A>G (p.Ile1025Val) c.2107A>G (p.Ile703Val) c.1999A>G (p.Ile667Val) c.496A>G (p.Ile166Val) | gnomAD v4 |
| 4 | g.154320961T>G | CA358505824 | DCHS2 | c.4438A>C (p.Ile1480Leu) n.3072A>C c.3072A>C c.3073A>C (p.Ile1025Leu) c.2107A>C (p.Ile703Leu) c.1999A>C (p.Ile667Leu) c.496A>C (p.Ile166Leu) | |
| 4 | g.154320962C>A | CA442011691 | DCHS2 | c.4437G>T (p.Val1479=) n.3071G>T c.3071G>T c.3072G>T (p.Val1024=) c.2106G>T (p.Val702=) c.1998G>T (p.Val666=) c.495G>T (p.Val165=) | dbSNP |
| 4 | g.154320962C= | CA1504821942 | DCHS2 | c.4437G= (p.Val1479=) n.3071G= c.3071G= c.3072G= (p.Val1024=) c.2106G= (p.Val702=) c.1998G= (p.Val666=) c.495G= (p.Val165=) | |
| 4 | g.154320962C>G | CA442011695 | DCHS2 | c.4437G>C (p.Val1479=) n.3071G>C c.3071G>C c.3072G>C (p.Val1024=) c.2106G>C (p.Val702=) c.1998G>C (p.Val666=) c.495G>C (p.Val165=) | |
| 4 | g.154320962C>T | CA442011697 | DCHS2 | c.4437G>A (p.Val1479=) n.3071G>A c.3071G>A c.3072G>A (p.Val1024=) c.2106G>A (p.Val702=) c.1998G>A (p.Val666=) c.495G>A (p.Val165=) | COSMIC |
| 4 | g.154320963A>C | CA358505825 | DCHS2 | c.4436T>G (p.Val1479Gly) n.3070T>G c.3070T>G c.3071T>G (p.Val1024Gly) c.2105T>G (p.Val702Gly) c.1997T>G (p.Val666Gly) c.494T>G (p.Val165Gly) | |
| 4 | g.154320963A>G | CA358505826 | DCHS2 | c.4436T>C (p.Val1479Ala) n.3070T>C c.3070T>C c.3071T>C (p.Val1024Ala) c.2105T>C (p.Val702Ala) c.1997T>C (p.Val666Ala) c.494T>C (p.Val165Ala) | |
| 4 | g.154320963A>T | CA358505827 | DCHS2 | c.4436T>A (p.Val1479Glu) n.3070T>A c.3070T>A c.3071T>A (p.Val1024Glu) c.2105T>A (p.Val702Glu) c.1997T>A (p.Val666Glu) c.494T>A (p.Val165Glu) | |
| 4 | g.154320964C>A | CA358505828 | DCHS2 | c.4435G>T (p.Val1479Leu) n.3069G>T c.3069G>T c.3070G>T (p.Val1024Leu) c.2104G>T (p.Val702Leu) c.1996G>T (p.Val666Leu) c.493G>T (p.Val165Leu) | |
| 4 | g.154320964C>G | CA358505829 | DCHS2 | c.4435G>C (p.Val1479Leu) n.3069G>C c.3069G>C c.3070G>C (p.Val1024Leu) c.2104G>C (p.Val702Leu) c.1996G>C (p.Val666Leu) c.493G>C (p.Val165Leu) | |
| 4 | g.154320964C>T | CA358505830 | DCHS2 | c.4435G>A (p.Val1479Met) n.3069G>A c.3069G>A c.3070G>A (p.Val1024Met) c.2104G>A (p.Val702Met) c.1996G>A (p.Val666Met) c.493G>A (p.Val165Met) | |
| 4 | g.154320965T>A | CA358505833 | DCHS2 | c.4434A>T (p.Arg1478Ser) n.3068A>T c.3068A>T c.3069A>T (p.Arg1023Ser) c.2103A>T (p.Arg701Ser) c.1995A>T (p.Arg665Ser) c.492A>T (p.Arg164Ser) | COSMIC |
| 4 | g.154320965T>C | CA3112859 | DCHS2 | c.4434A>G (p.Arg1478=) n.3068A>G c.3068A>G c.3069A>G (p.Arg1023=) c.2103A>G (p.Arg701=) c.1995A>G (p.Arg665=) c.492A>G (p.Arg164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154320965T>G | CA358505835 | DCHS2 | c.4434A>C (p.Arg1478Ser) n.3068A>C c.3068A>C c.3069A>C (p.Arg1023Ser) c.2103A>C (p.Arg701Ser) c.1995A>C (p.Arg665Ser) c.492A>C (p.Arg164Ser) | |
| 4 | g.154320965T= | CA1504821943 | DCHS2 | c.4434A= (p.Arg1478=) n.3068A= c.3068A= c.3069A= (p.Arg1023=) c.2103A= (p.Arg701=) c.1995A= (p.Arg665=) c.492A= (p.Arg164=) | |
| 4 | g.154320966C>A | CA358505843 | DCHS2 | c.4433G>T (p.Arg1478Ile) n.3067G>T c.3067G>T c.3068G>T (p.Arg1023Ile) c.2102G>T (p.Arg701Ile) c.1994G>T (p.Arg665Ile) c.491G>T (p.Arg164Ile) | |
| 4 | g.154320966C>G | CA358505840 | DCHS2 | c.4433G>C (p.Arg1478Thr) n.3067G>C c.3067G>C c.3068G>C (p.Arg1023Thr) c.2102G>C (p.Arg701Thr) c.1994G>C (p.Arg665Thr) c.491G>C (p.Arg164Thr) | |
| 4 | g.154320966C>T | CA358505839 | DCHS2 | c.4433G>A (p.Arg1478Lys) n.3067G>A c.3067G>A c.3068G>A (p.Arg1023Lys) c.2102G>A (p.Arg701Lys) c.1994G>A (p.Arg665Lys) c.491G>A (p.Arg164Lys) | |
| 4 | g.154320967T>A | CA358505845 | DCHS2 | c.4432A>T (p.Arg1478Ter) n.3066A>T c.3066A>T c.3067A>T (p.Arg1023Ter) c.2101A>T (p.Arg701Ter) c.1993A>T (p.Arg665Ter) c.490A>T (p.Arg164Ter) | |
| 4 | g.154320967T>C | CA358505846 | DCHS2 | c.4432A>G (p.Arg1478Gly) n.3066A>G c.3066A>G c.3067A>G (p.Arg1023Gly) c.2101A>G (p.Arg701Gly) c.1993A>G (p.Arg665Gly) c.490A>G (p.Arg164Gly) | |
| 4 | g.154320967T>G | CA442011719 | DCHS2 | c.4432A>C (p.Arg1478=) n.3066A>C c.3066A>C c.3067A>C (p.Arg1023=) c.2101A>C (p.Arg701=) c.1993A>C (p.Arg665=) c.490A>C (p.Arg164=) | |
| 4 | g.154320968G>A | CA108712180 | DCHS2 | c.4431C>T (p.Phe1477=) n.3065C>T c.3065C>T c.3066C>T (p.Phe1022=) c.2100C>T (p.Phe700=) c.1992C>T (p.Phe664=) c.489C>T (p.Phe163=) | dbSNP gnomAD v4 |
| 4 | g.154320968G>C | CA358505849 | DCHS2 | c.4431C>G (p.Phe1477Leu) n.3065C>G c.3065C>G c.3066C>G (p.Phe1022Leu) c.2100C>G (p.Phe700Leu) c.1992C>G (p.Phe664Leu) c.489C>G (p.Phe163Leu) | |
| 4 | g.154320968G= | CA1504821944 | DCHS2 | c.4431C= (p.Phe1477=) n.3065C= c.3065C= c.3066C= (p.Phe1022=) c.2100C= (p.Phe700=) c.1992C= (p.Phe664=) c.489C= (p.Phe163=) | |
| 4 | g.154320968G>T | CA358505850 | DCHS2 | c.4431C>A (p.Phe1477Leu) n.3065C>A c.3065C>A c.3066C>A (p.Phe1022Leu) c.2100C>A (p.Phe700Leu) c.1992C>A (p.Phe664Leu) c.489C>A (p.Phe163Leu) | |
| 4 | g.154320969A= | CA1504821945 | DCHS2 | c.4430T= (p.Phe1477=) n.3064T= c.3064T= c.3065T= (p.Phe1022=) c.2099T= (p.Phe700=) c.1991T= (p.Phe664=) c.488T= (p.Phe163=) | |
| 4 | g.154320969A>C | CA358505852 | DCHS2 | c.4430T>G (p.Phe1477Cys) n.3064T>G c.3064T>G c.3065T>G (p.Phe1022Cys) c.2099T>G (p.Phe700Cys) c.1991T>G (p.Phe664Cys) c.488T>G (p.Phe163Cys) | |
| 4 | g.154320969A>G | CA358505854 | DCHS2 | c.4430T>C (p.Phe1477Ser) n.3064T>C c.3064T>C c.3065T>C (p.Phe1022Ser) c.2099T>C (p.Phe700Ser) c.1991T>C (p.Phe664Ser) c.488T>C (p.Phe163Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154320969A>T | CA358505856 | DCHS2 | c.4430T>A (p.Phe1477Tyr) n.3064T>A c.3064T>A c.3065T>A (p.Phe1022Tyr) c.2099T>A (p.Phe700Tyr) c.1991T>A (p.Phe664Tyr) c.488T>A (p.Phe163Tyr) | |
| 4 | g.154320970A>C | CA358505858 | DCHS2 | c.4429T>G (p.Phe1477Val) n.3063T>G c.3063T>G c.3064T>G (p.Phe1022Val) c.2098T>G (p.Phe700Val) c.1990T>G (p.Phe664Val) c.487T>G (p.Phe163Val) | |
| 4 | g.154320970A>G | CA358505859 | DCHS2 | c.4429T>C (p.Phe1477Leu) n.3063T>C c.3063T>C c.3064T>C (p.Phe1022Leu) c.2098T>C (p.Phe700Leu) c.1990T>C (p.Phe664Leu) c.487T>C (p.Phe163Leu) | gnomAD v4 |
| 4 | g.154320970A>T | CA358505861 | DCHS2 | c.4429T>A (p.Phe1477Ile) n.3063T>A c.3063T>A c.3064T>A (p.Phe1022Ile) c.2098T>A (p.Phe700Ile) c.1990T>A (p.Phe664Ile) c.487T>A (p.Phe163Ile) | |
| 4 | g.154320971A>C | CA442011728 | DCHS2 | c.4428T>G (p.Leu1476=) n.3062T>G c.3062T>G c.3063T>G (p.Leu1021=) c.2097T>G (p.Leu699=) c.1989T>G (p.Leu663=) c.486T>G (p.Leu162=) | gnomAD v4 |
| 4 | g.154320971A>G | CA442011736 | DCHS2 | c.4428T>C (p.Leu1476=) n.3062T>C c.3062T>C c.3063T>C (p.Leu1021=) c.2097T>C (p.Leu699=) c.1989T>C (p.Leu663=) c.486T>C (p.Leu162=) | |
| 4 | g.154320971A>T | CA442011739 | DCHS2 | c.4428T>A (p.Leu1476=) n.3062T>A c.3062T>A c.3063T>A (p.Leu1021=) c.2097T>A (p.Leu699=) c.1989T>A (p.Leu663=) c.486T>A (p.Leu162=) | |
| 4 | g.154320972A>C | CA358505863 | DCHS2 | c.4427T>G (p.Leu1476Arg) n.3061T>G c.3061T>G c.3062T>G (p.Leu1021Arg) c.2096T>G (p.Leu699Arg) c.1988T>G (p.Leu663Arg) c.485T>G (p.Leu162Arg) | |
| 4 | g.154320972A>G | CA358505865 | DCHS2 | c.4427T>C (p.Leu1476Pro) n.3061T>C c.3061T>C c.3062T>C (p.Leu1021Pro) c.2096T>C (p.Leu699Pro) c.1988T>C (p.Leu663Pro) c.485T>C (p.Leu162Pro) | |
| 4 | g.154320972A>T | CA358505866 | DCHS2 | c.4427T>A (p.Leu1476His) n.3061T>A c.3061T>A c.3062T>A (p.Leu1021His) c.2096T>A (p.Leu699His) c.1988T>A (p.Leu663His) c.485T>A (p.Leu162His) | |
| 4 | g.154320973G>A | CA358505873 | DCHS2 | c.4426C>T (p.Leu1476Phe) n.3060C>T c.3060C>T c.3061C>T (p.Leu1021Phe) c.2095C>T (p.Leu699Phe) c.1987C>T (p.Leu663Phe) c.484C>T (p.Leu162Phe) | |
| 4 | g.154320973G>C | CA358505875 | DCHS2 | c.4426C>G (p.Leu1476Val) n.3060C>G c.3060C>G c.3061C>G (p.Leu1021Val) c.2095C>G (p.Leu699Val) c.1987C>G (p.Leu663Val) c.484C>G (p.Leu162Val) | gnomAD v4 |
| 4 | g.154320973G>T | CA358505870 | DCHS2 | c.4426C>A (p.Leu1476Ile) n.3060C>A c.3060C>A c.3061C>A (p.Leu1021Ile) c.2095C>A (p.Leu699Ile) c.1987C>A (p.Leu663Ile) c.484C>A (p.Leu162Ile) | |
| 4 | g.154320974A>C | CA358505877 | DCHS2 | c.4425T>G (p.Tyr1475Ter) n.3059T>G c.3059T>G c.3060T>G (p.Tyr1020Ter) c.2094T>G (p.Tyr698Ter) c.1986T>G (p.Tyr662Ter) c.483T>G (p.Tyr161Ter) | |
| 4 | g.154320974A>G | CA442011744 | DCHS2 | c.4425T>C (p.Tyr1475=) n.3059T>C c.3059T>C c.3060T>C (p.Tyr1020=) c.2094T>C (p.Tyr698=) c.1986T>C (p.Tyr662=) c.483T>C (p.Tyr161=) | gnomAD v4 |
| 4 | g.154320974A>T | CA358505879 | DCHS2 | c.4425T>A (p.Tyr1475Ter) n.3059T>A c.3059T>A c.3060T>A (p.Tyr1020Ter) c.2094T>A (p.Tyr698Ter) c.1986T>A (p.Tyr662Ter) c.483T>A (p.Tyr161Ter) | gnomAD v4 |
| 4 | g.154320976_154320978del | CA2672428537 | DCHS2 | c.4423_4425del (p.Tyr1475del) n.3057_3059del c.3057_3059del c.3058_3060del (p.Tyr1020del) c.2092_2094del (p.Tyr698del) c.1984_1986del (p.Tyr662del) c.481_483del (p.Tyr161del) | gnomAD v4 |
| 4 | g.154320975T>A | CA358505881 | DCHS2 | c.4424A>T (p.Tyr1475Phe) n.3058A>T c.3058A>T c.3059A>T (p.Tyr1020Phe) c.2093A>T (p.Tyr698Phe) c.1985A>T (p.Tyr662Phe) c.482A>T (p.Tyr161Phe) | |
| 4 | g.154320975T>C | CA358505883 | DCHS2 | c.4424A>G (p.Tyr1475Cys) n.3058A>G c.3058A>G c.3059A>G (p.Tyr1020Cys) c.2093A>G (p.Tyr698Cys) c.1985A>G (p.Tyr662Cys) c.482A>G (p.Tyr161Cys) | |
| 4 | g.154320975T>G | CA358505885 | DCHS2 | c.4424A>C (p.Tyr1475Ser) n.3058A>C c.3058A>C c.3059A>C (p.Tyr1020Ser) c.2093A>C (p.Tyr698Ser) c.1985A>C (p.Tyr662Ser) c.482A>C (p.Tyr161Ser) | |
| 4 | g.154320976A>C | CA358505887 | DCHS2 | c.4423T>G (p.Tyr1475Asp) n.3057T>G c.3057T>G c.3058T>G (p.Tyr1020Asp) c.2092T>G (p.Tyr698Asp) c.1984T>G (p.Tyr662Asp) c.481T>G (p.Tyr161Asp) | |
| 4 | g.154320976A>G | CA358505889 | DCHS2 | c.4423T>C (p.Tyr1475His) n.3057T>C c.3057T>C c.3058T>C (p.Tyr1020His) c.2092T>C (p.Tyr698His) c.1984T>C (p.Tyr662His) c.481T>C (p.Tyr161His) | |
| 4 | g.154320976A>T | CA358505890 | DCHS2 | c.4423T>A (p.Tyr1475Asn) n.3057T>A c.3057T>A c.3058T>A (p.Tyr1020Asn) c.2092T>A (p.Tyr698Asn) c.1984T>A (p.Tyr662Asn) c.481T>A (p.Tyr161Asn) | |
| 4 | g.154320977A>C | CA358505892 | DCHS2 | c.4422T>G (p.His1474Gln) n.3056T>G c.3056T>G c.3057T>G (p.His1019Gln) c.2091T>G (p.His697Gln) c.1983T>G (p.His661Gln) c.480T>G (p.His160Gln) | |
| 4 | g.154320977A>G | CA442011758 | DCHS2 | c.4422T>C (p.His1474=) n.3056T>C c.3056T>C c.3057T>C (p.His1019=) c.2091T>C (p.His697=) c.1983T>C (p.His661=) c.480T>C (p.His160=) | |
| 4 | g.154320977A>T | CA358505894 | DCHS2 | c.4422T>A (p.His1474Gln) n.3056T>A c.3056T>A c.3057T>A (p.His1019Gln) c.2091T>A (p.His697Gln) c.1983T>A (p.His661Gln) c.480T>A (p.His160Gln) | |
| 4 | g.154320978T>A | CA358505897 | DCHS2 | c.4421A>T (p.His1474Leu) n.3055A>T c.3055A>T c.3056A>T (p.His1019Leu) c.2090A>T (p.His697Leu) c.1982A>T (p.His661Leu) c.479A>T (p.His160Leu) | |
| 4 | g.154320978T>C | CA108712186 | DCHS2 | c.4421A>G (p.His1474Arg) n.3055A>G c.3055A>G c.3056A>G (p.His1019Arg) c.2090A>G (p.His697Arg) c.1982A>G (p.His661Arg) c.479A>G (p.His160Arg) | dbSNP |
| 4 | g.154320978T>G | CA358505900 | DCHS2 | c.4421A>C (p.His1474Pro) n.3055A>C c.3055A>C c.3056A>C (p.His1019Pro) c.2090A>C (p.His697Pro) c.1982A>C (p.His661Pro) c.479A>C (p.His160Pro) | gnomAD v4 |
| 4 | g.154320978T= | CA1504821946 | DCHS2 | c.4421A= (p.His1474=) n.3055A= c.3055A= c.3056A= (p.His1019=) c.2090A= (p.His697=) c.1982A= (p.His661=) c.479A= (p.His160=) | |
| 4 | g.154320979G>A | CA358505905 | DCHS2 | c.4420C>T (p.His1474Tyr) n.3054C>T c.3054C>T c.3055C>T (p.His1019Tyr) c.2089C>T (p.His697Tyr) c.1981C>T (p.His661Tyr) c.478C>T (p.His160Tyr) | dbSNP |
| 4 | g.154320979G>C | CA358505903 | DCHS2 | c.4420C>G (p.His1474Asp) n.3054C>G c.3054C>G c.3055C>G (p.His1019Asp) c.2089C>G (p.His697Asp) c.1981C>G (p.His661Asp) c.478C>G (p.His160Asp) | COSMIC |
| 4 | g.154320979G>T | CA358505901 | DCHS2 | c.4420C>A (p.His1474Asn) n.3054C>A c.3054C>A c.3055C>A (p.His1019Asn) c.2089C>A (p.His697Asn) c.1981C>A (p.His661Asn) c.478C>A (p.His160Asn) | |
| 4 | g.154320980A>C | CA442011769 | DCHS2 | c.4419T>G (p.Ser1473=) n.3053T>G c.3053T>G c.3054T>G (p.Ser1018=) c.2088T>G (p.Ser696=) c.1980T>G (p.Ser660=) c.477T>G (p.Ser159=) | |
| 4 | g.154320980A>G | CA442011773 | DCHS2 | c.4419T>C (p.Ser1473=) n.3053T>C c.3053T>C c.3054T>C (p.Ser1018=) c.2088T>C (p.Ser696=) c.1980T>C (p.Ser660=) c.477T>C (p.Ser159=) | |
| 4 | g.154320980A>T | CA442011771 | DCHS2 | c.4419T>A (p.Ser1473=) n.3053T>A c.3053T>A c.3054T>A (p.Ser1018=) c.2088T>A (p.Ser696=) c.1980T>A (p.Ser660=) c.477T>A (p.Ser159=) | |
| 4 | g.154320981G>A | CA108712192 | DCHS2 | c.4418C>T (p.Ser1473Phe) n.3052C>T c.3052C>T c.3053C>T (p.Ser1018Phe) c.2087C>T (p.Ser696Phe) c.1979C>T (p.Ser660Phe) c.476C>T (p.Ser159Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320981G>C | CA358505908 | DCHS2 | c.4418C>G (p.Ser1473Cys) n.3052C>G c.3052C>G c.3053C>G (p.Ser1018Cys) c.2087C>G (p.Ser696Cys) c.1979C>G (p.Ser660Cys) c.476C>G (p.Ser159Cys) | |
| 4 | g.154320981G= | CA1504821947 | DCHS2 | c.4418C= (p.Ser1473=) n.3052C= c.3052C= c.3053C= (p.Ser1018=) c.2087C= (p.Ser696=) c.1979C= (p.Ser660=) c.476C= (p.Ser159=) | |
| 4 | g.154320981G>T | CA358505911 | DCHS2 | c.4418C>A (p.Ser1473Tyr) n.3052C>A c.3052C>A c.3053C>A (p.Ser1018Tyr) c.2087C>A (p.Ser696Tyr) c.1979C>A (p.Ser660Tyr) c.476C>A (p.Ser159Tyr) | |
| 4 | g.154320982A= | CA1504821948 | DCHS2 | c.4417T= (p.Ser1473=) n.3051T= c.3051T= c.3052T= (p.Ser1018=) c.2086T= (p.Ser696=) c.1978T= (p.Ser660=) c.475T= (p.Ser159=) | |
| 4 | g.154320982A>C | CA358505913 | DCHS2 | c.4417T>G (p.Ser1473Ala) n.3051T>G c.3051T>G c.3052T>G (p.Ser1018Ala) c.2086T>G (p.Ser696Ala) c.1978T>G (p.Ser660Ala) c.475T>G (p.Ser159Ala) | |
| 4 | g.154320982A>G | CA358505914 | DCHS2 | c.4417T>C (p.Ser1473Pro) n.3051T>C c.3051T>C c.3052T>C (p.Ser1018Pro) c.2086T>C (p.Ser696Pro) c.1978T>C (p.Ser660Pro) c.475T>C (p.Ser159Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154320982A>T | CA3112860 | DCHS2 | c.4417T>A (p.Ser1473Thr) n.3051T>A c.3051T>A c.3052T>A (p.Ser1018Thr) c.2086T>A (p.Ser696Thr) c.1978T>A (p.Ser660Thr) c.475T>A (p.Ser159Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154320983T>A | CA442011779 | DCHS2 | c.4416A>T (p.Thr1472=) n.3050A>T c.3050A>T c.3051A>T (p.Thr1017=) c.2085A>T (p.Thr695=) c.1977A>T (p.Thr659=) c.474A>T (p.Thr158=) | |
| 4 | g.154320983T>C | CA442011780 | DCHS2 | c.4416A>G (p.Thr1472=) n.3050A>G c.3050A>G c.3051A>G (p.Thr1017=) c.2085A>G (p.Thr695=) c.1977A>G (p.Thr659=) c.474A>G (p.Thr158=) | |
| 4 | g.154320983T>G | CA108712199 | DCHS2 | c.4416A>C (p.Thr1472=) n.3050A>C c.3050A>C c.3051A>C (p.Thr1017=) c.2085A>C (p.Thr695=) c.1977A>C (p.Thr659=) c.474A>C (p.Thr158=) | dbSNP |
| 4 | g.154320983T= | CA1504821949 | DCHS2 | c.4416A= (p.Thr1472=) n.3050A= c.3050A= c.3051A= (p.Thr1017=) c.2085A= (p.Thr695=) c.1977A= (p.Thr659=) c.474A= (p.Thr158=) | |
| 4 | g.154320984G>A | CA358505917 | DCHS2 | c.4415C>T (p.Thr1472Ile) n.3049C>T c.3049C>T c.3050C>T (p.Thr1017Ile) c.2084C>T (p.Thr695Ile) c.1976C>T (p.Thr659Ile) c.473C>T (p.Thr158Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154320984G>C | CA358505919 | DCHS2 | c.4415C>G (p.Thr1472Arg) n.3049C>G c.3049C>G c.3050C>G (p.Thr1017Arg) c.2084C>G (p.Thr695Arg) c.1976C>G (p.Thr659Arg) c.473C>G (p.Thr158Arg) | |
| 4 | g.154320984G= | CA1504821950 | DCHS2 | c.4415C= (p.Thr1472=) n.3049C= c.3049C= c.3050C= (p.Thr1017=) c.2084C= (p.Thr695=) c.1976C= (p.Thr659=) c.473C= (p.Thr158=) | |
| 4 | g.154320984G>T | CA358505921 | DCHS2 | c.4415C>A (p.Thr1472Lys) n.3049C>A c.3049C>A c.3050C>A (p.Thr1017Lys) c.2084C>A (p.Thr695Lys) c.1976C>A (p.Thr659Lys) c.473C>A (p.Thr158Lys) | |
| 4 | g.154320985T>A | CA358505923 | DCHS2 | c.4414A>T (p.Thr1472Ser) n.3048A>T c.3048A>T c.3049A>T (p.Thr1017Ser) c.2083A>T (p.Thr695Ser) c.1975A>T (p.Thr659Ser) c.472A>T (p.Thr158Ser) | |
| 4 | g.154320985T>C | CA358505925 | DCHS2 | c.4414A>G (p.Thr1472Ala) n.3048A>G c.3048A>G c.3049A>G (p.Thr1017Ala) c.2083A>G (p.Thr695Ala) c.1975A>G (p.Thr659Ala) c.472A>G (p.Thr158Ala) | gnomAD v4 |
| 4 | g.154320985T>G | CA358505927 | DCHS2 | c.4414A>C (p.Thr1472Pro) n.3048A>C c.3048A>C c.3049A>C (p.Thr1017Pro) c.2083A>C (p.Thr695Pro) c.1975A>C (p.Thr659Pro) c.472A>C (p.Thr158Pro) | |
| 4 | g.154320985_154320986delinsAT | CA645540010 | DCHS2 | c.4413_4414delinsAT (p.Thr1472Ser) n.3047_3048delinsAT c.3047_3048delinsAT c.3048_3049delinsAT (p.Thr1017Ser) c.2082_2083delinsAT (p.Thr695Ser) c.1974_1975delinsAT (p.Thr659Ser) c.471_472delinsAT (p.Thr158Ser) | COSMIC |
| 4 | g.154320986C>A | CA442011784 | DCHS2 | c.4413G>T (p.Thr1471=) n.3047G>T c.3047G>T c.3048G>T (p.Thr1016=) c.2082G>T (p.Thr694=) c.1974G>T (p.Thr658=) c.471G>T (p.Thr157=) | |
| 4 | g.154320986C= | CA1504821951 | DCHS2 | c.4413G= (p.Thr1471=) n.3047G= c.3047G= c.3048G= (p.Thr1016=) c.2082G= (p.Thr694=) c.1974G= (p.Thr658=) c.471G= (p.Thr157=) | |
| 4 | g.154320986C>G | CA442011790 | DCHS2 | c.4413G>C (p.Thr1471=) n.3047G>C c.3047G>C c.3048G>C (p.Thr1016=) c.2082G>C (p.Thr694=) c.1974G>C (p.Thr658=) c.471G>C (p.Thr157=) | |
| 4 | g.154320986C>T | CA108712200 | DCHS2 | c.4413G>A (p.Thr1471=) n.3047G>A c.3047G>A c.3048G>A (p.Thr1016=) c.2082G>A (p.Thr694=) c.1974G>A (p.Thr658=) c.471G>A (p.Thr157=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.154320987G>A | CA3112861 | DCHS2 | c.4412C>T (p.Thr1471Met) n.3046C>T c.3046C>T c.3047C>T (p.Thr1016Met) c.2081C>T (p.Thr694Met) c.1973C>T (p.Thr658Met) c.470C>T (p.Thr157Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.154320987G>C | CA358505931 | DCHS2 | c.4412C>G (p.Thr1471Arg) n.3046C>G c.3046C>G c.3047C>G (p.Thr1016Arg) c.2081C>G (p.Thr694Arg) c.1973C>G (p.Thr658Arg) c.470C>G (p.Thr157Arg) | dbSNP gnomAD v4 |
| 4 | g.154320987G= | CA1504821952 | DCHS2 | c.4412C= (p.Thr1471=) n.3046C= c.3046C= c.3047C= (p.Thr1016=) c.2081C= (p.Thr694=) c.1973C= (p.Thr658=) c.470C= (p.Thr157=) | |
| 4 | g.154320987G>T | CA108712202 | DCHS2 | c.4412C>A (p.Thr1471Lys) n.3046C>A c.3046C>A c.3047C>A (p.Thr1016Lys) c.2081C>A (p.Thr694Lys) c.1973C>A (p.Thr658Lys) c.470C>A (p.Thr157Lys) | dbSNP gnomAD v4 |
| 4 | g.154320988T>A | CA358505934 | DCHS2 | c.4411A>T (p.Thr1471Ser) n.3045A>T c.3045A>T c.3046A>T (p.Thr1016Ser) c.2080A>T (p.Thr694Ser) c.1972A>T (p.Thr658Ser) c.469A>T (p.Thr157Ser) | |
| 4 | g.154320988T>C | CA358505936 | DCHS2 | c.4411A>G (p.Thr1471Ala) n.3045A>G c.3045A>G c.3046A>G (p.Thr1016Ala) c.2080A>G (p.Thr694Ala) c.1972A>G (p.Thr658Ala) c.469A>G (p.Thr157Ala) | |
| 4 | g.154320988T>G | CA358505938 | DCHS2 | c.4411A>C (p.Thr1471Pro) n.3045A>C c.3045A>C c.3046A>C (p.Thr1016Pro) c.2080A>C (p.Thr694Pro) c.1972A>C (p.Thr658Pro) c.469A>C (p.Thr157Pro) | |
| 4 | g.154320989C>A | CA358505941 | DCHS2 | c.4410G>T (p.Glu1470Asp) n.3044G>T c.3044G>T c.3045G>T (p.Glu1015Asp) c.2079G>T (p.Glu693Asp) c.1971G>T (p.Glu657Asp) c.468G>T (p.Glu156Asp) | |
| 4 | g.154320989C= | CA1504821953 | DCHS2 | c.4410G= (p.Glu1470=) n.3044G= c.3044G= c.3045G= (p.Glu1015=) c.2079G= (p.Glu693=) c.1971G= (p.Glu657=) c.468G= (p.Glu156=) | |
| 4 | g.154320989C>G | CA358505943 | DCHS2 | c.4410G>C (p.Glu1470Asp) n.3044G>C c.3044G>C c.3045G>C (p.Glu1015Asp) c.2079G>C (p.Glu693Asp) c.1971G>C (p.Glu657Asp) c.468G>C (p.Glu156Asp) | |
| 4 | g.154320989C>T | CA3112862 | DCHS2 | c.4410G>A (p.Glu1470=) n.3044G>A c.3044G>A c.3045G>A (p.Glu1015=) c.2079G>A (p.Glu693=) c.1971G>A (p.Glu657=) c.468G>A (p.Glu156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320990T>A | CA358505949 | DCHS2 | c.4409A>T (p.Glu1470Val) n.3043A>T c.3043A>T c.3044A>T (p.Glu1015Val) c.2078A>T (p.Glu693Val) c.1970A>T (p.Glu657Val) c.467A>T (p.Glu156Val) | |
| 4 | g.154320990T>C | CA358505946 | DCHS2 | c.4409A>G (p.Glu1470Gly) n.3043A>G c.3043A>G c.3044A>G (p.Glu1015Gly) c.2078A>G (p.Glu693Gly) c.1970A>G (p.Glu657Gly) c.467A>G (p.Glu156Gly) | dbSNP |
| 4 | g.154320990T>G | CA358505948 | DCHS2 | c.4409A>C (p.Glu1470Ala) n.3043A>C c.3043A>C c.3044A>C (p.Glu1015Ala) c.2078A>C (p.Glu693Ala) c.1970A>C (p.Glu657Ala) c.467A>C (p.Glu156Ala) | |
| 4 | g.154320991C>A | CA358505952 | DCHS2 | c.4408G>T (p.Glu1470Ter) n.3042G>T c.3042G>T c.3043G>T (p.Glu1015Ter) c.2077G>T (p.Glu693Ter) c.1969G>T (p.Glu657Ter) c.466G>T (p.Glu156Ter) | |
| 4 | g.154320991C>G | CA358505954 | DCHS2 | c.4408G>C (p.Glu1470Gln) n.3042G>C c.3042G>C c.3043G>C (p.Glu1015Gln) c.2077G>C (p.Glu693Gln) c.1969G>C (p.Glu657Gln) c.466G>C (p.Glu156Gln) | |
| 4 | g.154320991C>T | CA358505955 | DCHS2 | c.4408G>A (p.Glu1470Lys) n.3042G>A c.3042G>A c.3043G>A (p.Glu1015Lys) c.2077G>A (p.Glu693Lys) c.1969G>A (p.Glu657Lys) c.466G>A (p.Glu156Lys) | gnomAD v4 |
| 4 | g.154320992A= | CA1504821954 | DCHS2 | c.4407T= (p.Tyr1469=) n.3041T= c.3041T= c.3042T= (p.Tyr1014=) c.2076T= (p.Tyr692=) c.1968T= (p.Tyr656=) c.465T= (p.Tyr155=) | |
| 4 | g.154320992A>C | CA358505957 | DCHS2 | c.4407T>G (p.Tyr1469Ter) n.3041T>G c.3041T>G c.3042T>G (p.Tyr1014Ter) c.2076T>G (p.Tyr692Ter) c.1968T>G (p.Tyr656Ter) c.465T>G (p.Tyr155Ter) | |
| 4 | g.154320992A>G | CA442011821 | DCHS2 | c.4407T>C (p.Tyr1469=) n.3041T>C c.3041T>C c.3042T>C (p.Tyr1014=) c.2076T>C (p.Tyr692=) c.1968T>C (p.Tyr656=) c.465T>C (p.Tyr155=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320992A>T | CA358505959 | DCHS2 | c.4407T>A (p.Tyr1469Ter) n.3041T>A c.3041T>A c.3042T>A (p.Tyr1014Ter) c.2076T>A (p.Tyr692Ter) c.1968T>A (p.Tyr656Ter) c.465T>A (p.Tyr155Ter) | |
| 4 | g.154320993T>A | CA358505961 | DCHS2 | c.4406A>T (p.Tyr1469Phe) n.3040A>T c.3040A>T c.3041A>T (p.Tyr1014Phe) c.2075A>T (p.Tyr692Phe) c.1967A>T (p.Tyr656Phe) c.464A>T (p.Tyr155Phe) | COSMIC |
| 4 | g.154320993T>C | CA358505965 | DCHS2 | c.4406A>G (p.Tyr1469Cys) n.3040A>G c.3040A>G c.3041A>G (p.Tyr1014Cys) c.2075A>G (p.Tyr692Cys) c.1967A>G (p.Tyr656Cys) c.464A>G (p.Tyr155Cys) | |
| 4 | g.154320993T>G | CA358505963 | DCHS2 | c.4406A>C (p.Tyr1469Ser) n.3040A>C c.3040A>C c.3041A>C (p.Tyr1014Ser) c.2075A>C (p.Tyr692Ser) c.1967A>C (p.Tyr656Ser) c.464A>C (p.Tyr155Ser) | |
| 4 | g.154320994A= | CA1504821955 | DCHS2 | c.4405T= (p.Tyr1469=) n.3039T= c.3039T= c.3040T= (p.Tyr1014=) c.2074T= (p.Tyr692=) c.1966T= (p.Tyr656=) c.463T= (p.Tyr155=) | |
| 4 | g.154320994A>C | CA358505967 | DCHS2 | c.4405T>G (p.Tyr1469Asp) n.3039T>G c.3039T>G c.3040T>G (p.Tyr1014Asp) c.2074T>G (p.Tyr692Asp) c.1966T>G (p.Tyr656Asp) c.463T>G (p.Tyr155Asp) | |
| 4 | g.154320994A>G | CA358505969 | DCHS2 | c.4405T>C (p.Tyr1469His) n.3039T>C c.3039T>C c.3040T>C (p.Tyr1014His) c.2074T>C (p.Tyr692His) c.1966T>C (p.Tyr656His) c.463T>C (p.Tyr155His) | dbSNP gnomAD v2 |
| 4 | g.154320994A>T | CA108712211 | DCHS2 | c.4405T>A (p.Tyr1469Asn) n.3039T>A c.3039T>A c.3040T>A (p.Tyr1014Asn) c.2074T>A (p.Tyr692Asn) c.1966T>A (p.Tyr656Asn) c.463T>A (p.Tyr155Asn) | dbSNP |
| 4 | g.154320994_154320997delinsAATC | CA1504821956 | DCHS2 | c.4402_4405delinsGATT (p.Asp1468=) n.3036_3039delinsGATT c.3036_3039delinsGATT c.3037_3040delinsGATT (p.Asp1013=) c.2071_2074delinsGATT (p.Asp691=) c.1963_1966delinsGATT (p.Asp655=) c.460_463delinsGATT (p.Asp154=) | |
| 4 | g.154320995A= | CA1504821957 | DCHS2 | c.4404T= (p.Asp1468=) n.3038T= c.3038T= c.3039T= (p.Asp1013=) c.2073T= (p.Asp691=) c.1965T= (p.Asp655=) c.462T= (p.Asp154=) | |
| 4 | g.154320995A>C | CA358505971 | DCHS2 | c.4404T>G (p.Asp1468Glu) n.3038T>G c.3038T>G c.3039T>G (p.Asp1013Glu) c.2073T>G (p.Asp691Glu) c.1965T>G (p.Asp655Glu) c.462T>G (p.Asp154Glu) | |
| 4 | g.154320995A>G | CA442011843 | DCHS2 | c.4404T>C (p.Asp1468=) n.3038T>C c.3038T>C c.3039T>C (p.Asp1013=) c.2073T>C (p.Asp691=) c.1965T>C (p.Asp655=) c.462T>C (p.Asp154=) | dbSNP gnomAD v4 |
| 4 | g.154320995A>T | CA358505972 | DCHS2 | c.4404T>A (p.Asp1468Glu) n.3038T>A c.3038T>A c.3039T>A (p.Asp1013Glu) c.2073T>A (p.Asp691Glu) c.1965T>A (p.Asp655Glu) c.462T>A (p.Asp154Glu) | |
| 4 | g.154320996_154320998del | CA1069712974 | DCHS2 | c.4402_4404del (p.Asp1468del) n.3036_3038del c.3036_3038del c.3037_3039del (p.Asp1013del) c.2071_2073del (p.Asp691del) c.1963_1965del (p.Asp655del) c.460_462del (p.Asp154del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154320996T>A | CA358505976 | DCHS2 | c.4403A>T (p.Asp1468Val) n.3037A>T c.3037A>T c.3038A>T (p.Asp1013Val) c.2072A>T (p.Asp691Val) c.1964A>T (p.Asp655Val) c.461A>T (p.Asp154Val) | |
| 4 | g.154320996T>C | CA358505977 | DCHS2 | c.4403A>G (p.Asp1468Gly) n.3037A>G c.3037A>G c.3038A>G (p.Asp1013Gly) c.2072A>G (p.Asp691Gly) c.1964A>G (p.Asp655Gly) c.461A>G (p.Asp154Gly) | |
| 4 | g.154320996T>G | CA358505979 | DCHS2 | c.4403A>C (p.Asp1468Ala) n.3037A>C c.3037A>C c.3038A>C (p.Asp1013Ala) c.2072A>C (p.Asp691Ala) c.1964A>C (p.Asp655Ala) c.461A>C (p.Asp154Ala) | |
| 4 | g.154320997C>A | CA358505982 | DCHS2 | c.4402G>T (p.Asp1468Tyr) n.3036G>T c.3036G>T c.3037G>T (p.Asp1013Tyr) c.2071G>T (p.Asp691Tyr) c.1963G>T (p.Asp655Tyr) c.460G>T (p.Asp154Tyr) | |
| 4 | g.154320997C>G | CA358505983 | DCHS2 | c.4402G>C (p.Asp1468His) n.3036G>C c.3036G>C c.3037G>C (p.Asp1013His) c.2071G>C (p.Asp691His) c.1963G>C (p.Asp655His) c.460G>C (p.Asp154His) | |
| 4 | g.154320997C>T | CA358505984 | DCHS2 | c.4402G>A (p.Asp1468Asn) n.3036G>A c.3036G>A c.3037G>A (p.Asp1013Asn) c.2071G>A (p.Asp691Asn) c.1963G>A (p.Asp655Asn) c.460G>A (p.Asp154Asn) | gnomAD v4 |
| 4 | g.154320998A= | CA1504821958 | DCHS2 | c.4401T= (p.Leu1467=) n.3035T= c.3035T= c.3036T= (p.Leu1012=) c.2070T= (p.Leu690=) c.1962T= (p.Leu654=) c.459T= (p.Leu153=) | |
| 4 | g.154320998A>C | CA442011852 | DCHS2 | c.4401T>G (p.Leu1467=) n.3035T>G c.3035T>G c.3036T>G (p.Leu1012=) c.2070T>G (p.Leu690=) c.1962T>G (p.Leu654=) c.459T>G (p.Leu153=) | |
| 4 | g.154320998A>G | CA442011859 | DCHS2 | c.4401T>C (p.Leu1467=) n.3035T>C c.3035T>C c.3036T>C (p.Leu1012=) c.2070T>C (p.Leu690=) c.1962T>C (p.Leu654=) c.459T>C (p.Leu153=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154320998A>T | CA442011860 | DCHS2 | c.4401T>A (p.Leu1467=) n.3035T>A c.3035T>A c.3036T>A (p.Leu1012=) c.2070T>A (p.Leu690=) c.1962T>A (p.Leu654=) c.459T>A (p.Leu153=) | |
| 4 | g.154320999A>C | CA358505989 | DCHS2 | c.4400T>G (p.Leu1467Arg) n.3034T>G c.3034T>G c.3035T>G (p.Leu1012Arg) c.2069T>G (p.Leu690Arg) c.1961T>G (p.Leu654Arg) c.458T>G (p.Leu153Arg) | |
| 4 | g.154320999A>G | CA358505991 | DCHS2 | c.4400T>C (p.Leu1467Pro) n.3034T>C c.3034T>C c.3035T>C (p.Leu1012Pro) c.2069T>C (p.Leu690Pro) c.1961T>C (p.Leu654Pro) c.458T>C (p.Leu153Pro) | |
| 4 | g.154320999A>T | CA358505987 | DCHS2 | c.4400T>A (p.Leu1467His) n.3034T>A c.3034T>A c.3035T>A (p.Leu1012His) c.2069T>A (p.Leu690His) c.1961T>A (p.Leu654His) c.458T>A (p.Leu153His) | |
| 4 | g.154321000G>A | CA358505995 | DCHS2 | c.4399C>T (p.Leu1467Phe) n.3033C>T c.3033C>T c.3034C>T (p.Leu1012Phe) c.2068C>T (p.Leu690Phe) c.1960C>T (p.Leu654Phe) c.457C>T (p.Leu153Phe) | |
| 4 | g.154321000G>C | CA358505994 | DCHS2 | c.4399C>G (p.Leu1467Val) n.3033C>G c.3033C>G c.3034C>G (p.Leu1012Val) c.2068C>G (p.Leu690Val) c.1960C>G (p.Leu654Val) c.457C>G (p.Leu153Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321000G= | CA1504821959 | DCHS2 | c.4399C= (p.Leu1467=) n.3033C= c.3033C= c.3034C= (p.Leu1012=) c.2068C= (p.Leu690=) c.1960C= (p.Leu654=) c.457C= (p.Leu153=) | |
| 4 | g.154321000G>T | CA358505997 | DCHS2 | c.4399C>A (p.Leu1467Ile) n.3033C>A c.3033C>A c.3034C>A (p.Leu1012Ile) c.2068C>A (p.Leu690Ile) c.1960C>A (p.Leu654Ile) c.457C>A (p.Leu153Ile) | |
| 4 | g.154321001T>A | CA358506000 | DCHS2 | c.4398A>T (p.Glu1466Asp) n.3032A>T c.3032A>T c.3033A>T (p.Glu1011Asp) c.2067A>T (p.Glu689Asp) c.1959A>T (p.Glu653Asp) c.456A>T (p.Glu152Asp) | |
| 4 | g.154321001T>C | CA442011868 | DCHS2 | c.4398A>G (p.Glu1466=) n.3032A>G c.3032A>G c.3033A>G (p.Glu1011=) c.2067A>G (p.Glu689=) c.1959A>G (p.Glu653=) c.456A>G (p.Glu152=) | |
| 4 | g.154321001T>G | CA358506001 | DCHS2 | c.4398A>C (p.Glu1466Asp) n.3032A>C c.3032A>C c.3033A>C (p.Glu1011Asp) c.2067A>C (p.Glu689Asp) c.1959A>C (p.Glu653Asp) c.456A>C (p.Glu152Asp) | |
| 4 | g.154321002T>A | CA358506004 | DCHS2 | c.4397A>T (p.Glu1466Val) n.3031A>T c.3031A>T c.3032A>T (p.Glu1011Val) c.2066A>T (p.Glu689Val) c.1958A>T (p.Glu653Val) c.455A>T (p.Glu152Val) | |
| 4 | g.154321002T>C | CA358506006 | DCHS2 | c.4397A>G (p.Glu1466Gly) n.3031A>G c.3031A>G c.3032A>G (p.Glu1011Gly) c.2066A>G (p.Glu689Gly) c.1958A>G (p.Glu653Gly) c.455A>G (p.Glu152Gly) | |
| 4 | g.154321002T>G | CA358506007 | DCHS2 | c.4397A>C (p.Glu1466Ala) n.3031A>C c.3031A>C c.3032A>C (p.Glu1011Ala) c.2066A>C (p.Glu689Ala) c.1958A>C (p.Glu653Ala) c.455A>C (p.Glu152Ala) | |
| 4 | g.154321003C>A | CA358506010 | DCHS2 | c.4396G>T (p.Glu1466Ter) n.3030G>T c.3030G>T c.3031G>T (p.Glu1011Ter) c.2065G>T (p.Glu689Ter) c.1957G>T (p.Glu653Ter) c.454G>T (p.Glu152Ter) | |
| 4 | g.154321003C>G | CA358506011 | DCHS2 | c.4396G>C (p.Glu1466Gln) n.3030G>C c.3030G>C c.3031G>C (p.Glu1011Gln) c.2065G>C (p.Glu689Gln) c.1957G>C (p.Glu653Gln) c.454G>C (p.Glu152Gln) | |
| 4 | g.154321003C>T | CA358506013 | DCHS2 | c.4396G>A (p.Glu1466Lys) n.3030G>A c.3030G>A c.3031G>A (p.Glu1011Lys) c.2065G>A (p.Glu689Lys) c.1957G>A (p.Glu653Lys) c.454G>A (p.Glu152Lys) | COSMIC |
| 4 | g.154321004C>A | CA3112863 | DCHS2 | c.4395G>T (p.Lys1465Asn) n.3029G>T c.3029G>T c.3030G>T (p.Lys1010Asn) c.2064G>T (p.Lys688Asn) c.1956G>T (p.Lys652Asn) c.453G>T (p.Lys151Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321004C= | CA1504821960 | DCHS2 | c.4395G= (p.Lys1465=) n.3029G= c.3029G= c.3030G= (p.Lys1010=) c.2064G= (p.Lys688=) c.1956G= (p.Lys652=) c.453G= (p.Lys151=) | |
| 4 | g.154321004C>G | CA358506016 | DCHS2 | c.4395G>C (p.Lys1465Asn) n.3029G>C c.3029G>C c.3030G>C (p.Lys1010Asn) c.2064G>C (p.Lys688Asn) c.1956G>C (p.Lys652Asn) c.453G>C (p.Lys151Asn) | |
| 4 | g.154321004C>T | CA442011874 | DCHS2 | c.4395G>A (p.Lys1465=) n.3029G>A c.3029G>A c.3030G>A (p.Lys1010=) c.2064G>A (p.Lys688=) c.1956G>A (p.Lys652=) c.453G>A (p.Lys151=) | gnomAD v4 |
| 4 | g.154321005T>A | CA358506018 | DCHS2 | c.4394A>T (p.Lys1465Met) n.3028A>T c.3028A>T c.3029A>T (p.Lys1010Met) c.2063A>T (p.Lys688Met) c.1955A>T (p.Lys652Met) c.452A>T (p.Lys151Met) | |
| 4 | g.154321005T>C | CA358506019 | DCHS2 | c.4394A>G (p.Lys1465Arg) n.3028A>G c.3028A>G c.3029A>G (p.Lys1010Arg) c.2063A>G (p.Lys688Arg) c.1955A>G (p.Lys652Arg) c.452A>G (p.Lys151Arg) | |
| 4 | g.154321005T>G | CA358506021 | DCHS2 | c.4394A>C (p.Lys1465Thr) n.3028A>C c.3028A>C c.3029A>C (p.Lys1010Thr) c.2063A>C (p.Lys688Thr) c.1955A>C (p.Lys652Thr) c.452A>C (p.Lys151Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154321005T= | CA1504821961 | DCHS2 | c.4394A= (p.Lys1465=) n.3028A= c.3028A= c.3029A= (p.Lys1010=) c.2063A= (p.Lys688=) c.1955A= (p.Lys652=) c.452A= (p.Lys151=) | |
| 4 | g.154321006T>A | CA358506027 | DCHS2 | c.4393A>T (p.Lys1465Ter) n.3027A>T c.3027A>T c.3028A>T (p.Lys1010Ter) c.2062A>T (p.Lys688Ter) c.1954A>T (p.Lys652Ter) c.451A>T (p.Lys151Ter) | |
| 4 | g.154321006T>C | CA358506024 | DCHS2 | c.4393A>G (p.Lys1465Glu) n.3027A>G c.3027A>G c.3028A>G (p.Lys1010Glu) c.2062A>G (p.Lys688Glu) c.1954A>G (p.Lys652Glu) c.451A>G (p.Lys151Glu) | gnomAD v4 |
| 4 | g.154321006T>G | CA358506025 | DCHS2 | c.4393A>C (p.Lys1465Gln) n.3027A>C c.3027A>C c.3028A>C (p.Lys1010Gln) c.2062A>C (p.Lys688Gln) c.1954A>C (p.Lys652Gln) c.451A>C (p.Lys151Gln) | |
| 4 | g.154321007A= | CA1504821962 | DCHS2 | c.4392T= (p.Ser1464=) n.3026T= c.3026T= c.3027T= (p.Ser1009=) c.2061T= (p.Ser687=) c.1953T= (p.Ser651=) c.450T= (p.Ser150=) | |
| 4 | g.154321007A>C | CA442011887 | DCHS2 | c.4392T>G (p.Ser1464=) n.3026T>G c.3026T>G c.3027T>G (p.Ser1009=) c.2061T>G (p.Ser687=) c.1953T>G (p.Ser651=) c.450T>G (p.Ser150=) | |
| 4 | g.154321007A>G | CA442011889 | DCHS2 | c.4392T>C (p.Ser1464=) n.3026T>C c.3026T>C c.3027T>C (p.Ser1009=) c.2061T>C (p.Ser687=) c.1953T>C (p.Ser651=) c.450T>C (p.Ser150=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154321007A>T | CA442011891 | DCHS2 | c.4392T>A (p.Ser1464=) n.3026T>A c.3026T>A c.3027T>A (p.Ser1009=) c.2061T>A (p.Ser687=) c.1953T>A (p.Ser651=) c.450T>A (p.Ser150=) | |
| 4 | g.154321008G>A | CA358506030 | DCHS2 | c.4391C>T (p.Ser1464Phe) n.3025C>T c.3025C>T c.3026C>T (p.Ser1009Phe) c.2060C>T (p.Ser687Phe) c.1952C>T (p.Ser651Phe) c.449C>T (p.Ser150Phe) | dbSNP gnomAD v4 |
| 4 | g.154321008G>C | CA358506031 | DCHS2 | c.4391C>G (p.Ser1464Cys) n.3025C>G c.3025C>G c.3026C>G (p.Ser1009Cys) c.2060C>G (p.Ser687Cys) c.1952C>G (p.Ser651Cys) c.449C>G (p.Ser150Cys) | |
| 4 | g.154321008G= | CA1504821963 | DCHS2 | c.4391C= (p.Ser1464=) n.3025C= c.3025C= c.3026C= (p.Ser1009=) c.2060C= (p.Ser687=) c.1952C= (p.Ser651=) c.449C= (p.Ser150=) | |
| 4 | g.154321008G>T | CA358506033 | DCHS2 | c.4391C>A (p.Ser1464Tyr) n.3025C>A c.3025C>A c.3026C>A (p.Ser1009Tyr) c.2060C>A (p.Ser687Tyr) c.1952C>A (p.Ser651Tyr) c.449C>A (p.Ser150Tyr) | |
| 4 | g.154321009A= | CA1504821964 | DCHS2 | c.4390T= (p.Ser1464=) n.3024T= c.3024T= c.3025T= (p.Ser1009=) c.2059T= (p.Ser687=) c.1951T= (p.Ser651=) c.448T= (p.Ser150=) | |
| 4 | g.154321009A>C | CA358506034 | DCHS2 | c.4390T>G (p.Ser1464Ala) n.3024T>G c.3024T>G c.3025T>G (p.Ser1009Ala) c.2059T>G (p.Ser687Ala) c.1951T>G (p.Ser651Ala) c.448T>G (p.Ser150Ala) | |
| 4 | g.154321009A>G | CA358506036 | DCHS2 | c.4390T>C (p.Ser1464Pro) n.3024T>C c.3024T>C c.3025T>C (p.Ser1009Pro) c.2059T>C (p.Ser687Pro) c.1951T>C (p.Ser651Pro) c.448T>C (p.Ser150Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154321009A>T | CA108712222 | DCHS2 | c.4390T>A (p.Ser1464Thr) n.3024T>A c.3024T>A c.3025T>A (p.Ser1009Thr) c.2059T>A (p.Ser687Thr) c.1951T>A (p.Ser651Thr) c.448T>A (p.Ser150Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321010A>C | CA442011901 | DCHS2 | c.4389T>G (p.Leu1463=) n.3023T>G c.3023T>G c.3024T>G (p.Leu1008=) c.2058T>G (p.Leu686=) c.1950T>G (p.Leu650=) c.447T>G (p.Leu149=) | |
| 4 | g.154321010A>G | CA442011905 | DCHS2 | c.4389T>C (p.Leu1463=) n.3023T>C c.3023T>C c.3024T>C (p.Leu1008=) c.2058T>C (p.Leu686=) c.1950T>C (p.Leu650=) c.447T>C (p.Leu149=) | |
| 4 | g.154321010A>T | CA442011907 | DCHS2 | c.4389T>A (p.Leu1463=) n.3023T>A c.3023T>A c.3024T>A (p.Leu1008=) c.2058T>A (p.Leu686=) c.1950T>A (p.Leu650=) c.447T>A (p.Leu149=) | |
| 4 | g.154321011A>C | CA358506040 | DCHS2 | c.4388T>G (p.Leu1463Arg) n.3022T>G c.3022T>G c.3023T>G (p.Leu1008Arg) c.2057T>G (p.Leu686Arg) c.1949T>G (p.Leu650Arg) c.446T>G (p.Leu149Arg) | |
| 4 | g.154321011A>G | CA358506042 | DCHS2 | c.4388T>C (p.Leu1463Pro) n.3022T>C c.3022T>C c.3023T>C (p.Leu1008Pro) c.2057T>C (p.Leu686Pro) c.1949T>C (p.Leu650Pro) c.446T>C (p.Leu149Pro) | |
| 4 | g.154321011A>T | CA358506044 | DCHS2 | c.4388T>A (p.Leu1463His) n.3022T>A c.3022T>A c.3023T>A (p.Leu1008His) c.2057T>A (p.Leu686His) c.1949T>A (p.Leu650His) c.446T>A (p.Leu149His) | |
| 4 | g.154321012G>A | CA358506046 | DCHS2 | c.4387C>T (p.Leu1463Phe) n.3021C>T c.3021C>T c.3022C>T (p.Leu1008Phe) c.2056C>T (p.Leu686Phe) c.1948C>T (p.Leu650Phe) c.445C>T (p.Leu149Phe) | |
| 4 | g.154321012G>C | CA358506048 | DCHS2 | c.4387C>G (p.Leu1463Val) n.3021C>G c.3021C>G c.3022C>G (p.Leu1008Val) c.2056C>G (p.Leu686Val) c.1948C>G (p.Leu650Val) c.445C>G (p.Leu149Val) | |
| 4 | g.154321012G= | CA1504821965 | DCHS2 | c.4387C= (p.Leu1463=) n.3021C= c.3021C= c.3022C= (p.Leu1008=) c.2056C= (p.Leu686=) c.1948C= (p.Leu650=) c.445C= (p.Leu149=) | |
| 4 | g.154321012G>T | CA358506050 | DCHS2 | c.4387C>A (p.Leu1463Ile) n.3021C>A c.3021C>A c.3022C>A (p.Leu1008Ile) c.2056C>A (p.Leu686Ile) c.1948C>A (p.Leu650Ile) c.445C>A (p.Leu149Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154321013A>C | CA358506054 | DCHS2 | c.4386T>G (p.Phe1462Leu) n.3020T>G c.3020T>G c.3021T>G (p.Phe1007Leu) c.2055T>G (p.Phe685Leu) c.1947T>G (p.Phe649Leu) c.444T>G (p.Phe148Leu) | |
| 4 | g.154321013A>G | CA442011914 | DCHS2 | c.4386T>C (p.Phe1462=) n.3020T>C c.3020T>C c.3021T>C (p.Phe1007=) c.2055T>C (p.Phe685=) c.1947T>C (p.Phe649=) c.444T>C (p.Phe148=) | |
| 4 | g.154321013A>T | CA358506053 | DCHS2 | c.4386T>A (p.Phe1462Leu) n.3020T>A c.3020T>A c.3021T>A (p.Phe1007Leu) c.2055T>A (p.Phe685Leu) c.1947T>A (p.Phe649Leu) c.444T>A (p.Phe148Leu) | |
| 4 | g.154321014A>C | CA358506055 | DCHS2 | c.4385T>G (p.Phe1462Cys) n.3019T>G c.3019T>G c.3020T>G (p.Phe1007Cys) c.2054T>G (p.Phe685Cys) c.1946T>G (p.Phe649Cys) c.443T>G (p.Phe148Cys) | |
| 4 | g.154321014A>G | CA358506056 | DCHS2 | c.4385T>C (p.Phe1462Ser) n.3019T>C c.3019T>C c.3020T>C (p.Phe1007Ser) c.2054T>C (p.Phe685Ser) c.1946T>C (p.Phe649Ser) c.443T>C (p.Phe148Ser) | |
| 4 | g.154321014A>T | CA358506058 | DCHS2 | c.4385T>A (p.Phe1462Tyr) n.3019T>A c.3019T>A c.3020T>A (p.Phe1007Tyr) c.2054T>A (p.Phe685Tyr) c.1946T>A (p.Phe649Tyr) c.443T>A (p.Phe148Tyr) | |
| 4 | g.154321015A>C | CA358506061 | DCHS2 | c.4384T>G (p.Phe1462Val) n.3018T>G c.3018T>G c.3019T>G (p.Phe1007Val) c.2053T>G (p.Phe685Val) c.1945T>G (p.Phe649Val) c.442T>G (p.Phe148Val) | |
| 4 | g.154321015A>G | CA358506062 | DCHS2 | c.4384T>C (p.Phe1462Leu) n.3018T>C c.3018T>C c.3019T>C (p.Phe1007Leu) c.2053T>C (p.Phe685Leu) c.1945T>C (p.Phe649Leu) c.442T>C (p.Phe148Leu) | |
| 4 | g.154321015A>T | CA358506064 | DCHS2 | c.4384T>A (p.Phe1462Ile) n.3018T>A c.3018T>A c.3019T>A (p.Phe1007Ile) c.2053T>A (p.Phe685Ile) c.1945T>A (p.Phe649Ile) c.442T>A (p.Phe148Ile) | |
| 4 | g.154321016C>A | CA358506067 | DCHS2 | c.4383G>T (p.Leu1461Phe) n.3017G>T c.3017G>T c.3018G>T (p.Leu1006Phe) c.2052G>T (p.Leu684Phe) c.1944G>T (p.Leu648Phe) c.441G>T (p.Leu147Phe) | |
| 4 | g.154321016C>G | CA358506068 | DCHS2 | c.4383G>C (p.Leu1461Phe) n.3017G>C c.3017G>C c.3018G>C (p.Leu1006Phe) c.2052G>C (p.Leu684Phe) c.1944G>C (p.Leu648Phe) c.441G>C (p.Leu147Phe) | gnomAD v4 |
| 4 | g.154321016C>T | CA441803550 | DCHS2 | c.4383G>A (p.Leu1461=) n.3017G>A c.3017G>A c.3018G>A (p.Leu1006=) c.2052G>A (p.Leu684=) c.1944G>A (p.Leu648=) c.441G>A (p.Leu147=) | |
| 4 | g.154321017A= | CA1504821966 | DCHS2 | c.4382T= (p.Leu1461=) n.3016T= c.3016T= c.3017T= (p.Leu1006=) c.2051T= (p.Leu684=) c.1943T= (p.Leu648=) c.440T= (p.Leu147=) | |
| 4 | g.154321017A>C | CA358506071 | DCHS2 | c.4382T>G (p.Leu1461Trp) n.3016T>G c.3016T>G c.3017T>G (p.Leu1006Trp) c.2051T>G (p.Leu684Trp) c.1943T>G (p.Leu648Trp) c.440T>G (p.Leu147Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154321017A>G | CA358506075 | DCHS2 | c.4382T>C (p.Leu1461Ser) n.3016T>C c.3016T>C c.3017T>C (p.Leu1006Ser) c.2051T>C (p.Leu684Ser) c.1943T>C (p.Leu648Ser) c.440T>C (p.Leu147Ser) | |
| 4 | g.154321017A>T | CA358506073 | DCHS2 | c.4382T>A (p.Leu1461Ter) n.3016T>A c.3016T>A c.3017T>A (p.Leu1006Ter) c.2051T>A (p.Leu684Ter) c.1943T>A (p.Leu648Ter) c.440T>A (p.Leu147Ter) | dbSNP |
| 4 | g.154321018A>C | CA358506077 | DCHS2 | c.4381T>G (p.Leu1461Val) n.3015T>G c.3015T>G c.3016T>G (p.Leu1006Val) c.2050T>G (p.Leu684Val) c.1942T>G (p.Leu648Val) c.439T>G (p.Leu147Val) | |
| 4 | g.154321018A>G | CA441803551 | DCHS2 | c.4381T>C (p.Leu1461=) n.3015T>C c.3015T>C c.3016T>C (p.Leu1006=) c.2050T>C (p.Leu684=) c.1942T>C (p.Leu648=) c.439T>C (p.Leu147=) | gnomAD v4 COSMIC |
| 4 | g.154321018A>T | CA358506079 | DCHS2 | c.4381T>A (p.Leu1461Met) n.3015T>A c.3015T>A c.3016T>A (p.Leu1006Met) c.2050T>A (p.Leu684Met) c.1942T>A (p.Leu648Met) c.439T>A (p.Leu147Met) | |
| 4 | g.154321018_154321019insCCAAACACACCCAACACA | CA2764108722 | DCHS2 | c.4381_4382insGTGTTGGGTGTGTTTGGT (p.Asp1460_Leu1461insCysValGlyCysValTrp) n.3015_3016insGTGTTGGGTGTGTTTGGT c.3015_3016insGTGTTGGGTGTGTTTGGT c.3016_3017insGTGTTGGGTGTGTTTGGT (p.Asp1005_Leu1006insCysValGlyCysValTrp) c.2050_2051insGTGTTGGGTGTGTTTGGT (p.Asp683_Leu684insCysValGlyCysValTrp) c.1942_1943insGTGTTGGGTGTGTTTGGT (p.Asp647_Leu648insCysValGlyCysValTrp) c.439_440insGTGTTGGGTGTGTTTGGT (p.Asp146_Leu147insCysValGlyCysValTrp) | |
| 4 | g.154321019G>A | CA441803552 | DCHS2 | c.4380C>T (p.Asp1460=) n.3014C>T c.3014C>T c.3015C>T (p.Asp1005=) c.2049C>T (p.Asp683=) c.1941C>T (p.Asp647=) c.438C>T (p.Asp146=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154321019G>C | CA358506081 | DCHS2 | c.4380C>G (p.Asp1460Glu) n.3014C>G c.3014C>G c.3015C>G (p.Asp1005Glu) c.2049C>G (p.Asp683Glu) c.1941C>G (p.Asp647Glu) c.438C>G (p.Asp146Glu) | |
| 4 | g.154321019G= | CA1504821967 | DCHS2 | c.4380C= (p.Asp1460=) n.3014C= c.3014C= c.3015C= (p.Asp1005=) c.2049C= (p.Asp683=) c.1941C= (p.Asp647=) c.438C= (p.Asp146=) | |
| 4 | g.154321019G>T | CA358506084 | DCHS2 | c.4380C>A (p.Asp1460Glu) n.3014C>A c.3014C>A c.3015C>A (p.Asp1005Glu) c.2049C>A (p.Asp683Glu) c.1941C>A (p.Asp647Glu) c.438C>A (p.Asp146Glu) | |
| 4 | g.154321020T>A | CA358506086 | DCHS2 | c.4379A>T (p.Asp1460Val) n.3013A>T c.3013A>T c.3014A>T (p.Asp1005Val) c.2048A>T (p.Asp683Val) c.1940A>T (p.Asp647Val) c.437A>T (p.Asp146Val) | |
| 4 | g.154321020T>C | CA358506091 | DCHS2 | c.4379A>G (p.Asp1460Gly) n.3013A>G c.3013A>G c.3014A>G (p.Asp1005Gly) c.2048A>G (p.Asp683Gly) c.1940A>G (p.Asp647Gly) c.437A>G (p.Asp146Gly) | |
| 4 | g.154321020T>G | CA358506089 | DCHS2 | c.4379A>C (p.Asp1460Ala) n.3013A>C c.3013A>C c.3014A>C (p.Asp1005Ala) c.2048A>C (p.Asp683Ala) c.1940A>C (p.Asp647Ala) c.437A>C (p.Asp146Ala) | |
| 4 | g.154321021C>A | CA358506093 | DCHS2 | c.4378G>T (p.Asp1460Tyr) n.3012G>T c.3012G>T c.3013G>T (p.Asp1005Tyr) c.2047G>T (p.Asp683Tyr) c.1939G>T (p.Asp647Tyr) c.436G>T (p.Asp146Tyr) | |
| 4 | g.154321021C>G | CA358506095 | DCHS2 | c.4378G>C (p.Asp1460His) n.3012G>C c.3012G>C c.3013G>C (p.Asp1005His) c.2047G>C (p.Asp683His) c.1939G>C (p.Asp647His) c.436G>C (p.Asp146His) | |
| 4 | g.154321021C>T | CA358506097 | DCHS2 | c.4378G>A (p.Asp1460Asn) n.3012G>A c.3012G>A c.3013G>A (p.Asp1005Asn) c.2047G>A (p.Asp683Asn) c.1939G>A (p.Asp647Asn) c.436G>A (p.Asp146Asn) | |
| 4 | g.154321022T>A | CA441803553 | DCHS2 | c.4377A>T (p.Gly1459=) n.3011A>T c.3011A>T c.3012A>T (p.Gly1004=) c.2046A>T (p.Gly682=) c.1938A>T (p.Gly646=) c.435A>T (p.Gly145=) | |
| 4 | g.154321022T>C | CA441803555 | DCHS2 | c.4377A>G (p.Gly1459=) n.3011A>G c.3011A>G c.3012A>G (p.Gly1004=) c.2046A>G (p.Gly682=) c.1938A>G (p.Gly646=) c.435A>G (p.Gly145=) | |
| 4 | g.154321022T>G | CA441803554 | DCHS2 | c.4377A>C (p.Gly1459=) n.3011A>C c.3011A>C c.3012A>C (p.Gly1004=) c.2046A>C (p.Gly682=) c.1938A>C (p.Gly646=) c.435A>C (p.Gly145=) | |
| 4 | g.154321023C>A | CA358506100 | DCHS2 | c.4376G>T (p.Gly1459Val) n.3010G>T c.3010G>T c.3011G>T (p.Gly1004Val) c.2045G>T (p.Gly682Val) c.1937G>T (p.Gly646Val) c.434G>T (p.Gly145Val) | |
| 4 | g.154321023C>G | CA358506102 | DCHS2 | c.4376G>C (p.Gly1459Ala) n.3010G>C c.3010G>C c.3011G>C (p.Gly1004Ala) c.2045G>C (p.Gly682Ala) c.1937G>C (p.Gly646Ala) c.434G>C (p.Gly145Ala) | gnomAD v4 |
| 4 | g.154321023C>T | CA358506103 | DCHS2 | c.4376G>A (p.Gly1459Glu) n.3010G>A c.3010G>A c.3011G>A (p.Gly1004Glu) c.2045G>A (p.Gly682Glu) c.1937G>A (p.Gly646Glu) c.434G>A (p.Gly145Glu) | |
| 4 | g.154321024C>A | CA358506106 | DCHS2 | c.4375G>T (p.Gly1459Ter) n.3009G>T c.3009G>T c.3010G>T (p.Gly1004Ter) c.2044G>T (p.Gly682Ter) c.1936G>T (p.Gly646Ter) c.433G>T (p.Gly145Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154321024C= | CA1504821968 | DCHS2 | c.4375G= (p.Gly1459=) n.3009G= c.3009G= c.3010G= (p.Gly1004=) c.2044G= (p.Gly682=) c.1936G= (p.Gly646=) c.433G= (p.Gly145=) | |
| 4 | g.154321024C>G | CA358506108 | DCHS2 | c.4375G>C (p.Gly1459Arg) n.3009G>C c.3009G>C c.3010G>C (p.Gly1004Arg) c.2044G>C (p.Gly682Arg) c.1936G>C (p.Gly646Arg) c.433G>C (p.Gly145Arg) | |
| 4 | g.154321024C>T | CA174637 | DCHS2 | c.4375G>A (p.Gly1459Arg) n.3009G>A c.3009G>A c.3010G>A (p.Gly1004Arg) c.2044G>A (p.Gly682Arg) c.1936G>A (p.Gly646Arg) c.433G>A (p.Gly145Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.154321024_154321025delinsCG | CA1504821969 | DCHS2 | c.4374_4375delinsCG (p.Thr1458=) n.3008_3009delinsCG c.3008_3009delinsCG c.3009_3010delinsCG (p.Thr1003=) c.2043_2044delinsCG (p.Thr681=) c.1935_1936delinsCG (p.Thr645=) c.432_433delinsCG (p.Thr144=) |