| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236885200del | CA2651189205 | MTR | c.2756del (p.Asp919AlafsTer14) c.2603del (p.Asp868AlafsTer14) c.*1798del (n.*1798del) c.*1500del (n.*1500del) c.2408del (p.Asp803AlafsTer14) n.3070del c.2567del (p.Asp856AlafsTer14) n.3200del c.2576del (p.Asp859AlafsTer14) c.2318del (p.Asp773AlafsTer14) n.2950del c.1418del (p.Asp473AlafsTer14) c.1535del (p.Asp512AlafsTer14) c.2753del (p.Asp918AlafsTer14) c.1820del (p.Asp607AlafsTer14) c.2924del (p.Asp975AlafsTer14) c.2771del (p.Asp924AlafsTer14) c.2735del (p.Asp912AlafsTer14) | gnomAD v4 |
| 1 | g.236885200A= | CA1139895347 | MTR | c.2756A= (p.Asp919=) c.2603A= (p.Asp868=) c.*1798A= (n.*1798A=) c.*1500A= (n.*1500A=) c.2408A= (p.Asp803=) n.3070A= c.2567A= (p.Asp856=) n.3200A= c.2576A= (p.Asp859=) c.2318A= (p.Asp773=) n.2950A= c.1418A= (p.Asp473=) c.1535A= (p.Asp512=) c.2753A= (p.Asp918=) c.1820A= (p.Asp607=) c.2924A= (p.Asp975=) c.2771A= (p.Asp924=) c.2735A= (p.Asp912=) | |
| 1 | g.236885200A>C | CA345384615 | MTR | c.2756A>C (p.Asp919Ala) c.2603A>C (p.Asp868Ala) c.*1798A>C (n.*1798A>C) c.*1500A>C (n.*1500A>C) c.2408A>C (p.Asp803Ala) n.3070A>C c.2567A>C (p.Asp856Ala) n.3200A>C c.2576A>C (p.Asp859Ala) c.2318A>C (p.Asp773Ala) n.2950A>C c.1418A>C (p.Asp473Ala) c.1535A>C (p.Asp512Ala) c.2753A>C (p.Asp918Ala) c.1820A>C (p.Asp607Ala) c.2924A>C (p.Asp975Ala) c.2771A>C (p.Asp924Ala) c.2735A>C (p.Asp912Ala) | |
| 1 | g.236885200A>G | CA170993 | MTR | c.2756A>G (p.Asp919Gly) c.2603A>G (p.Asp868Gly) c.*1798A>G (n.*1798A>G) c.*1500A>G (n.*1500A>G) c.2408A>G (p.Asp803Gly) n.3070A>G c.2567A>G (p.Asp856Gly) n.3200A>G c.2576A>G (p.Asp859Gly) c.2318A>G (p.Asp773Gly) n.2950A>G c.1418A>G (p.Asp473Gly) c.1535A>G (p.Asp512Gly) c.2753A>G (p.Asp918Gly) c.1820A>G (p.Asp607Gly) c.2924A>G (p.Asp975Gly) c.2771A>G (p.Asp924Gly) c.2735A>G (p.Asp912Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236885200A>T | CA345384622 | MTR | c.2756A>T (p.Asp919Val) c.2603A>T (p.Asp868Val) c.*1798A>T (n.*1798A>T) c.*1500A>T (n.*1500A>T) c.2408A>T (p.Asp803Val) n.3070A>T c.2567A>T (p.Asp856Val) n.3200A>T c.2576A>T (p.Asp859Val) c.2318A>T (p.Asp773Val) n.2950A>T c.1418A>T (p.Asp473Val) c.1535A>T (p.Asp512Val) c.2753A>T (p.Asp918Val) c.1820A>T (p.Asp607Val) c.2924A>T (p.Asp975Val) c.2771A>T (p.Asp924Val) c.2735A>T (p.Asp912Val) | |
| 1 | g.236885201C>A | CA345384625 | MTR | c.2757C>A (p.Asp919Glu) c.2604C>A (p.Asp868Glu) c.*1799C>A (n.*1799C>A) c.*1501C>A (n.*1501C>A) c.2409C>A (p.Asp803Glu) n.3071C>A c.2568C>A (p.Asp856Glu) n.3201C>A c.2577C>A (p.Asp859Glu) c.2319C>A (p.Asp773Glu) n.2951C>A c.1419C>A (p.Asp473Glu) c.1536C>A (p.Asp512Glu) c.2754C>A (p.Asp918Glu) c.1821C>A (p.Asp607Glu) c.2925C>A (p.Asp975Glu) c.2772C>A (p.Asp924Glu) c.2736C>A (p.Asp912Glu) | gnomAD v4 |
| 1 | g.236885201C>G | CA345384623 | MTR | c.2757C>G (p.Asp919Glu) c.2604C>G (p.Asp868Glu) c.*1799C>G (n.*1799C>G) c.*1501C>G (n.*1501C>G) c.2409C>G (p.Asp803Glu) n.3071C>G c.2568C>G (p.Asp856Glu) n.3201C>G c.2577C>G (p.Asp859Glu) c.2319C>G (p.Asp773Glu) n.2951C>G c.1419C>G (p.Asp473Glu) c.1536C>G (p.Asp512Glu) c.2754C>G (p.Asp918Glu) c.1821C>G (p.Asp607Glu) c.2925C>G (p.Asp975Glu) c.2772C>G (p.Asp924Glu) c.2736C>G (p.Asp912Glu) | |
| 1 | g.236885201C>T | CA423816440 | MTR | c.2757C>T (p.Asp919=) c.2604C>T (p.Asp868=) c.*1799C>T (n.*1799C>T) c.*1501C>T (n.*1501C>T) c.2409C>T (p.Asp803=) n.3071C>T c.2568C>T (p.Asp856=) n.3201C>T c.2577C>T (p.Asp859=) c.2319C>T (p.Asp773=) n.2951C>T c.1419C>T (p.Asp473=) c.1536C>T (p.Asp512=) c.2754C>T (p.Asp918=) c.1821C>T (p.Asp607=) c.2925C>T (p.Asp975=) c.2772C>T (p.Asp924=) c.2736C>T (p.Asp912=) | |
| 1 | g.236885202C>A | CA345384627 | MTR | c.2758C>A (p.His920Asn) c.2605C>A (p.His869Asn) c.*1800C>A (n.*1800C>A) c.*1502C>A (n.*1502C>A) c.2410C>A (p.His804Asn) n.3072C>A c.2569C>A (p.His857Asn) n.3202C>A c.2578C>A (p.His860Asn) c.2320C>A (p.His774Asn) n.2952C>A c.1420C>A (p.His474Asn) c.1537C>A (p.His513Asn) c.2755C>A (p.His919Asn) c.1822C>A (p.His608Asn) c.2926C>A (p.His976Asn) c.2773C>A (p.His925Asn) c.2737C>A (p.His913Asn) | gnomAD v4 |
| 1 | g.236885202C= | CA1141581489 | MTR | c.2758C= (p.His920=) c.2605C= (p.His869=) c.*1800C= (n.*1800C=) c.*1502C= (n.*1502C=) c.2410C= (p.His804=) n.3072C= c.2569C= (p.His857=) n.3202C= c.2578C= (p.His860=) c.2320C= (p.His774=) n.2952C= c.1420C= (p.His474=) c.1537C= (p.His513=) c.2755C= (p.His919=) c.1822C= (p.His608=) c.2926C= (p.His976=) c.2773C= (p.His925=) c.2737C= (p.His913=) | |
| 1 | g.236885202C>G | CA257195 | MTR | c.2758C>G (p.His920Asp) c.2605C>G (p.His869Asp) c.*1800C>G (n.*1800C>G) c.*1502C>G (n.*1502C>G) c.2410C>G (p.His804Asp) n.3072C>G c.2569C>G (p.His857Asp) n.3202C>G c.2578C>G (p.His860Asp) c.2320C>G (p.His774Asp) n.2952C>G c.1420C>G (p.His474Asp) c.1537C>G (p.His513Asp) c.2755C>G (p.His919Asp) c.1822C>G (p.His608Asp) c.2926C>G (p.His976Asp) c.2773C>G (p.His925Asp) c.2737C>G (p.His913Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236885202C>T | CA345384628 | MTR | c.2758C>T (p.His920Tyr) c.2605C>T (p.His869Tyr) c.*1800C>T (n.*1800C>T) c.*1502C>T (n.*1502C>T) c.2410C>T (p.His804Tyr) n.3072C>T c.2569C>T (p.His857Tyr) n.3202C>T c.2578C>T (p.His860Tyr) c.2320C>T (p.His774Tyr) n.2952C>T c.1420C>T (p.His474Tyr) c.1537C>T (p.His513Tyr) c.2755C>T (p.His919Tyr) c.1822C>T (p.His608Tyr) c.2926C>T (p.His976Tyr) c.2773C>T (p.His925Tyr) c.2737C>T (p.His913Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236885203A>C | CA345384630 | MTR | c.2759A>C (p.His920Pro) c.2606A>C (p.His869Pro) c.*1801A>C (n.*1801A>C) c.*1503A>C (n.*1503A>C) c.2411A>C (p.His804Pro) n.3073A>C c.2570A>C (p.His857Pro) n.3203A>C c.2579A>C (p.His860Pro) c.2321A>C (p.His774Pro) n.2953A>C c.1421A>C (p.His474Pro) c.1538A>C (p.His513Pro) c.2756A>C (p.His919Pro) c.1823A>C (p.His608Pro) c.2927A>C (p.His976Pro) c.2774A>C (p.His925Pro) c.2738A>C (p.His913Pro) | |
| 1 | g.236885203A>G | CA345384631 | MTR | c.2759A>G (p.His920Arg) c.2606A>G (p.His869Arg) c.*1801A>G (n.*1801A>G) c.*1503A>G (n.*1503A>G) c.2411A>G (p.His804Arg) n.3073A>G c.2570A>G (p.His857Arg) n.3203A>G c.2579A>G (p.His860Arg) c.2321A>G (p.His774Arg) n.2953A>G c.1421A>G (p.His474Arg) c.1538A>G (p.His513Arg) c.2756A>G (p.His919Arg) c.1823A>G (p.His608Arg) c.2927A>G (p.His976Arg) c.2774A>G (p.His925Arg) c.2738A>G (p.His913Arg) | |
| 1 | g.236885203A>T | CA345384633 | MTR | c.2759A>T (p.His920Leu) c.2606A>T (p.His869Leu) c.*1801A>T (n.*1801A>T) c.*1503A>T (n.*1503A>T) c.2411A>T (p.His804Leu) n.3073A>T c.2570A>T (p.His857Leu) n.3203A>T c.2579A>T (p.His860Leu) c.2321A>T (p.His774Leu) n.2953A>T c.1421A>T (p.His474Leu) c.1538A>T (p.His513Leu) c.2756A>T (p.His919Leu) c.1823A>T (p.His608Leu) c.2927A>T (p.His976Leu) c.2774A>T (p.His925Leu) c.2738A>T (p.His913Leu) | |
| 1 | g.236885204T>A | CA345384634 | MTR | c.2760T>A (p.His920Gln) c.2607T>A (p.His869Gln) c.*1802T>A (n.*1802T>A) c.*1504T>A (n.*1504T>A) c.2412T>A (p.His804Gln) n.3074T>A c.2571T>A (p.His857Gln) n.3204T>A c.2580T>A (p.His860Gln) c.2322T>A (p.His774Gln) n.2954T>A c.1422T>A (p.His474Gln) c.1539T>A (p.His513Gln) c.2757T>A (p.His919Gln) c.1824T>A (p.His608Gln) c.2928T>A (p.His976Gln) c.2775T>A (p.His925Gln) c.2739T>A (p.His913Gln) | |
| 1 | g.236885204T>C | CA423816442 | MTR | c.2760T>C (p.His920=) c.2607T>C (p.His869=) c.*1802T>C (n.*1802T>C) c.*1504T>C (n.*1504T>C) c.2412T>C (p.His804=) n.3074T>C c.2571T>C (p.His857=) n.3204T>C c.2580T>C (p.His860=) c.2322T>C (p.His774=) n.2954T>C c.1422T>C (p.His474=) c.1539T>C (p.His513=) c.2757T>C (p.His919=) c.1824T>C (p.His608=) c.2928T>C (p.His976=) c.2775T>C (p.His925=) c.2739T>C (p.His913=) | |
| 1 | g.236885204T>G | CA345384642 | MTR | c.2760T>G (p.His920Gln) c.2607T>G (p.His869Gln) c.*1802T>G (n.*1802T>G) c.*1504T>G (n.*1504T>G) c.2412T>G (p.His804Gln) n.3074T>G c.2571T>G (p.His857Gln) n.3204T>G c.2580T>G (p.His860Gln) c.2322T>G (p.His774Gln) n.2954T>G c.1422T>G (p.His474Gln) c.1539T>G (p.His513Gln) c.2757T>G (p.His919Gln) c.1824T>G (p.His608Gln) c.2928T>G (p.His976Gln) c.2775T>G (p.His925Gln) c.2739T>G (p.His913Gln) | |
| 1 | g.236885205T>A | CA345384644 | MTR | c.2761T>A (p.Tyr921Asn) c.2608T>A (p.Tyr870Asn) c.*1803T>A (n.*1803T>A) c.*1505T>A (n.*1505T>A) c.2413T>A (p.Tyr805Asn) n.3075T>A c.2572T>A (p.Tyr858Asn) n.3205T>A c.2581T>A (p.Tyr861Asn) c.2323T>A (p.Tyr775Asn) n.2955T>A c.1423T>A (p.Tyr475Asn) c.1540T>A (p.Tyr514Asn) c.2758T>A (p.Tyr920Asn) c.1825T>A (p.Tyr609Asn) c.2929T>A (p.Tyr977Asn) c.2776T>A (p.Tyr926Asn) c.2740T>A (p.Tyr914Asn) | |
| 1 | g.236885205T>C | CA345384646 | MTR | c.2761T>C (p.Tyr921His) c.2608T>C (p.Tyr870His) c.*1803T>C (n.*1803T>C) c.*1505T>C (n.*1505T>C) c.2413T>C (p.Tyr805His) n.3075T>C c.2572T>C (p.Tyr858His) n.3205T>C c.2581T>C (p.Tyr861His) c.2323T>C (p.Tyr775His) n.2955T>C c.1423T>C (p.Tyr475His) c.1540T>C (p.Tyr514His) c.2758T>C (p.Tyr920His) c.1825T>C (p.Tyr609His) c.2929T>C (p.Tyr977His) c.2776T>C (p.Tyr926His) c.2740T>C (p.Tyr914His) | |
| 1 | g.236885205T>G | CA345384647 | MTR | c.2761T>G (p.Tyr921Asp) c.2608T>G (p.Tyr870Asp) c.*1803T>G (n.*1803T>G) c.*1505T>G (n.*1505T>G) c.2413T>G (p.Tyr805Asp) n.3075T>G c.2572T>G (p.Tyr858Asp) n.3205T>G c.2581T>G (p.Tyr861Asp) c.2323T>G (p.Tyr775Asp) n.2955T>G c.1423T>G (p.Tyr475Asp) c.1540T>G (p.Tyr514Asp) c.2758T>G (p.Tyr920Asp) c.1825T>G (p.Tyr609Asp) c.2929T>G (p.Tyr977Asp) c.2776T>G (p.Tyr926Asp) c.2740T>G (p.Tyr914Asp) | |
| 1 | g.236885206A= | CA2487103721 | MTR | c.2762A= (p.Tyr921=) c.2609A= (p.Tyr870=) c.*1804A= (n.*1804A=) c.*1506A= (n.*1506A=) c.2414A= (p.Tyr805=) n.3076A= c.2573A= (p.Tyr858=) n.3206A= c.2582A= (p.Tyr861=) c.2324A= (p.Tyr775=) n.2956A= c.1424A= (p.Tyr475=) c.1541A= (p.Tyr514=) c.2759A= (p.Tyr920=) c.1826A= (p.Tyr609=) c.2930A= (p.Tyr977=) c.2777A= (p.Tyr926=) c.2741A= (p.Tyr914=) | |
| 1 | g.236885206A>C | CA345384648 | MTR | c.2762A>C (p.Tyr921Ser) c.2609A>C (p.Tyr870Ser) c.*1804A>C (n.*1804A>C) c.*1506A>C (n.*1506A>C) c.2414A>C (p.Tyr805Ser) n.3076A>C c.2573A>C (p.Tyr858Ser) n.3206A>C c.2582A>C (p.Tyr861Ser) c.2324A>C (p.Tyr775Ser) n.2956A>C c.1424A>C (p.Tyr475Ser) c.1541A>C (p.Tyr514Ser) c.2759A>C (p.Tyr920Ser) c.1826A>C (p.Tyr609Ser) c.2930A>C (p.Tyr977Ser) c.2777A>C (p.Tyr926Ser) c.2741A>C (p.Tyr914Ser) | |
| 1 | g.236885206A>G | CA345384654 | MTR | c.2762A>G (p.Tyr921Cys) c.2609A>G (p.Tyr870Cys) c.*1804A>G (n.*1804A>G) c.*1506A>G (n.*1506A>G) c.2414A>G (p.Tyr805Cys) n.3076A>G c.2573A>G (p.Tyr858Cys) n.3206A>G c.2582A>G (p.Tyr861Cys) c.2324A>G (p.Tyr775Cys) n.2956A>G c.1424A>G (p.Tyr475Cys) c.1541A>G (p.Tyr514Cys) c.2759A>G (p.Tyr920Cys) c.1826A>G (p.Tyr609Cys) c.2930A>G (p.Tyr977Cys) c.2777A>G (p.Tyr926Cys) c.2741A>G (p.Tyr914Cys) | dbSNP gnomAD v4 |
| 1 | g.236885206A>T | CA345384663 | MTR | c.2762A>T (p.Tyr921Phe) c.2609A>T (p.Tyr870Phe) c.*1804A>T (n.*1804A>T) c.*1506A>T (n.*1506A>T) c.2414A>T (p.Tyr805Phe) n.3076A>T c.2573A>T (p.Tyr858Phe) n.3206A>T c.2582A>T (p.Tyr861Phe) c.2324A>T (p.Tyr775Phe) n.2956A>T c.1424A>T (p.Tyr475Phe) c.1541A>T (p.Tyr514Phe) c.2759A>T (p.Tyr920Phe) c.1826A>T (p.Tyr609Phe) c.2930A>T (p.Tyr977Phe) c.2777A>T (p.Tyr926Phe) c.2741A>T (p.Tyr914Phe) | |
| 1 | g.236885207T>A | CA345384668 | MTR | c.2763T>A (p.Tyr921Ter) c.2610T>A (p.Tyr870Ter) c.*1805T>A (n.*1805T>A) c.*1507T>A (n.*1507T>A) c.2415T>A (p.Tyr805Ter) n.3077T>A c.2574T>A (p.Tyr858Ter) n.3207T>A c.2583T>A (p.Tyr861Ter) c.2325T>A (p.Tyr775Ter) n.2957T>A c.1425T>A (p.Tyr475Ter) c.1542T>A (p.Tyr514Ter) c.2760T>A (p.Tyr920Ter) c.1827T>A (p.Tyr609Ter) c.2931T>A (p.Tyr977Ter) c.2778T>A (p.Tyr926Ter) c.2742T>A (p.Tyr914Ter) | |
| 1 | g.236885207T>C | CA39764338 | MTR | c.2763T>C (p.Tyr921=) c.2610T>C (p.Tyr870=) c.*1805T>C (n.*1805T>C) c.*1507T>C (n.*1507T>C) c.2415T>C (p.Tyr805=) n.3077T>C c.2574T>C (p.Tyr858=) n.3207T>C c.2583T>C (p.Tyr861=) c.2325T>C (p.Tyr775=) n.2957T>C c.1425T>C (p.Tyr475=) c.1542T>C (p.Tyr514=) c.2760T>C (p.Tyr920=) c.1827T>C (p.Tyr609=) c.2931T>C (p.Tyr977=) c.2778T>C (p.Tyr926=) c.2742T>C (p.Tyr914=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236885207T>G | CA345384665 | MTR | c.2763T>G (p.Tyr921Ter) c.2610T>G (p.Tyr870Ter) c.*1805T>G (n.*1805T>G) c.*1507T>G (n.*1507T>G) c.2415T>G (p.Tyr805Ter) n.3077T>G c.2574T>G (p.Tyr858Ter) n.3207T>G c.2583T>G (p.Tyr861Ter) c.2325T>G (p.Tyr775Ter) n.2957T>G c.1425T>G (p.Tyr475Ter) c.1542T>G (p.Tyr514Ter) c.2760T>G (p.Tyr920Ter) c.1827T>G (p.Tyr609Ter) c.2931T>G (p.Tyr977Ter) c.2778T>G (p.Tyr926Ter) c.2742T>G (p.Tyr914Ter) | |
| 1 | g.236885207T= | CA2487103722 | MTR | c.2763T= (p.Tyr921=) c.2610T= (p.Tyr870=) c.*1805T= (n.*1805T=) c.*1507T= (n.*1507T=) c.2415T= (p.Tyr805=) n.3077T= c.2574T= (p.Tyr858=) n.3207T= c.2583T= (p.Tyr861=) c.2325T= (p.Tyr775=) n.2957T= c.1425T= (p.Tyr475=) c.1542T= (p.Tyr514=) c.2760T= (p.Tyr920=) c.1827T= (p.Tyr609=) c.2931T= (p.Tyr977=) c.2778T= (p.Tyr926=) c.2742T= (p.Tyr914=) | |
| 1 | g.236885208G>A | CA345384670 | MTR | c.2764G>A (p.Glu922Lys) c.2611G>A (p.Glu871Lys) c.*1806G>A (n.*1806G>A) c.*1508G>A (n.*1508G>A) c.2416G>A (p.Glu806Lys) n.3078G>A c.2575G>A (p.Glu859Lys) n.3208G>A c.2584G>A (p.Glu862Lys) c.2326G>A (p.Glu776Lys) n.2958G>A c.1426G>A (p.Glu476Lys) c.1543G>A (p.Glu515Lys) c.2761G>A (p.Glu921Lys) c.1828G>A (p.Glu610Lys) c.2932G>A (p.Glu978Lys) c.2779G>A (p.Glu927Lys) c.2743G>A (p.Glu915Lys) | gnomAD v4 |
| 1 | g.236885208G>C | CA345384673 | MTR | c.2764G>C (p.Glu922Gln) c.2611G>C (p.Glu871Gln) c.*1806G>C (n.*1806G>C) c.*1508G>C (n.*1508G>C) c.2416G>C (p.Glu806Gln) n.3078G>C c.2575G>C (p.Glu859Gln) n.3208G>C c.2584G>C (p.Glu862Gln) c.2326G>C (p.Glu776Gln) n.2958G>C c.1426G>C (p.Glu476Gln) c.1543G>C (p.Glu515Gln) c.2761G>C (p.Glu921Gln) c.1828G>C (p.Glu610Gln) c.2932G>C (p.Glu978Gln) c.2779G>C (p.Glu927Gln) c.2743G>C (p.Glu915Gln) | |
| 1 | g.236885208G>T | CA345384675 | MTR | c.2764G>T (p.Glu922Ter) c.2611G>T (p.Glu871Ter) c.*1806G>T (n.*1806G>T) c.*1508G>T (n.*1508G>T) c.2416G>T (p.Glu806Ter) n.3078G>T c.2575G>T (p.Glu859Ter) n.3208G>T c.2584G>T (p.Glu862Ter) c.2326G>T (p.Glu776Ter) n.2958G>T c.1426G>T (p.Glu476Ter) c.1543G>T (p.Glu515Ter) c.2761G>T (p.Glu921Ter) c.1828G>T (p.Glu610Ter) c.2932G>T (p.Glu978Ter) c.2779G>T (p.Glu927Ter) c.2743G>T (p.Glu915Ter) | |
| 1 | g.236885209A>C | CA345384677 | MTR | c.2765A>C (p.Glu922Ala) c.2612A>C (p.Glu871Ala) c.*1807A>C (n.*1807A>C) c.*1509A>C (n.*1509A>C) c.2417A>C (p.Glu806Ala) n.3079A>C c.2576A>C (p.Glu859Ala) n.3209A>C c.2585A>C (p.Glu862Ala) c.2327A>C (p.Glu776Ala) n.2959A>C c.1427A>C (p.Glu476Ala) c.1544A>C (p.Glu515Ala) c.2762A>C (p.Glu921Ala) c.1829A>C (p.Glu610Ala) c.2933A>C (p.Glu978Ala) c.2780A>C (p.Glu927Ala) c.2744A>C (p.Glu915Ala) | |
| 1 | g.236885209A>G | CA345384679 | MTR | c.2765A>G (p.Glu922Gly) c.2612A>G (p.Glu871Gly) c.*1807A>G (n.*1807A>G) c.*1509A>G (n.*1509A>G) c.2417A>G (p.Glu806Gly) n.3079A>G c.2576A>G (p.Glu859Gly) n.3209A>G c.2585A>G (p.Glu862Gly) c.2327A>G (p.Glu776Gly) n.2959A>G c.1427A>G (p.Glu476Gly) c.1544A>G (p.Glu515Gly) c.2762A>G (p.Glu921Gly) c.1829A>G (p.Glu610Gly) c.2933A>G (p.Glu978Gly) c.2780A>G (p.Glu927Gly) c.2744A>G (p.Glu915Gly) | |
| 1 | g.236885209A>T | CA345384681 | MTR | c.2765A>T (p.Glu922Val) c.2612A>T (p.Glu871Val) c.*1807A>T (n.*1807A>T) c.*1509A>T (n.*1509A>T) c.2417A>T (p.Glu806Val) n.3079A>T c.2576A>T (p.Glu859Val) n.3209A>T c.2585A>T (p.Glu862Val) c.2327A>T (p.Glu776Val) n.2959A>T c.1427A>T (p.Glu476Val) c.1544A>T (p.Glu515Val) c.2762A>T (p.Glu921Val) c.1829A>T (p.Glu610Val) c.2933A>T (p.Glu978Val) c.2780A>T (p.Glu927Val) c.2744A>T (p.Glu915Val) | |
| 1 | g.236885210G>A | CA423816447 | MTR | c.2766G>A (p.Glu922=) c.2613G>A (p.Glu871=) c.*1808G>A (n.*1808G>A) c.*1510G>A (n.*1510G>A) c.2418G>A (p.Glu806=) n.3080G>A c.2577G>A (p.Glu859=) n.3210G>A c.2586G>A (p.Glu862=) c.2328G>A (p.Glu776=) n.2960G>A c.1428G>A (p.Glu476=) c.1545G>A (p.Glu515=) c.2763G>A (p.Glu921=) c.1830G>A (p.Glu610=) c.2934G>A (p.Glu978=) c.2781G>A (p.Glu927=) c.2745G>A (p.Glu915=) | dbSNP gnomAD v4 |
| 1 | g.236885210G>C | CA345384683 | MTR | c.2766G>C (p.Glu922Asp) c.2613G>C (p.Glu871Asp) c.*1808G>C (n.*1808G>C) c.*1510G>C (n.*1510G>C) c.2418G>C (p.Glu806Asp) n.3080G>C c.2577G>C (p.Glu859Asp) n.3210G>C c.2586G>C (p.Glu862Asp) c.2328G>C (p.Glu776Asp) n.2960G>C c.1428G>C (p.Glu476Asp) c.1545G>C (p.Glu515Asp) c.2763G>C (p.Glu921Asp) c.1830G>C (p.Glu610Asp) c.2934G>C (p.Glu978Asp) c.2781G>C (p.Glu927Asp) c.2745G>C (p.Glu915Asp) | |
| 1 | g.236885210G= | CA2487103723 | MTR | c.2766G= (p.Glu922=) c.2613G= (p.Glu871=) c.*1808G= (n.*1808G=) c.*1510G= (n.*1510G=) c.2418G= (p.Glu806=) n.3080G= c.2577G= (p.Glu859=) n.3210G= c.2586G= (p.Glu862=) c.2328G= (p.Glu776=) n.2960G= c.1428G= (p.Glu476=) c.1545G= (p.Glu515=) c.2763G= (p.Glu921=) c.1830G= (p.Glu610=) c.2934G= (p.Glu978=) c.2781G= (p.Glu927=) c.2745G= (p.Glu915=) | |
| 1 | g.236885210G>T | CA345384682 | MTR | c.2766G>T (p.Glu922Asp) c.2613G>T (p.Glu871Asp) c.*1808G>T (n.*1808G>T) c.*1510G>T (n.*1510G>T) c.2418G>T (p.Glu806Asp) n.3080G>T c.2577G>T (p.Glu859Asp) n.3210G>T c.2586G>T (p.Glu862Asp) c.2328G>T (p.Glu776Asp) n.2960G>T c.1428G>T (p.Glu476Asp) c.1545G>T (p.Glu515Asp) c.2763G>T (p.Glu921Asp) c.1830G>T (p.Glu610Asp) c.2934G>T (p.Glu978Asp) c.2781G>T (p.Glu927Asp) c.2745G>T (p.Glu915Asp) | |
| 1 | g.236885211T>A | CA345384686 | MTR | c.2767T>A (p.Ser923Thr) c.2614T>A (p.Ser872Thr) c.*1809T>A (n.*1809T>A) c.*1511T>A (n.*1511T>A) c.2419T>A (p.Ser807Thr) n.3081T>A c.2578T>A (p.Ser860Thr) n.3211T>A c.2587T>A (p.Ser863Thr) c.2329T>A (p.Ser777Thr) n.2961T>A c.1429T>A (p.Ser477Thr) c.1546T>A (p.Ser516Thr) c.2764T>A (p.Ser922Thr) c.1831T>A (p.Ser611Thr) c.2935T>A (p.Ser979Thr) c.2782T>A (p.Ser928Thr) c.2746T>A (p.Ser916Thr) | gnomAD v4 |
| 1 | g.236885211T>C | CA345384687 | MTR | c.2767T>C (p.Ser923Pro) c.2614T>C (p.Ser872Pro) c.*1809T>C (n.*1809T>C) c.*1511T>C (n.*1511T>C) c.2419T>C (p.Ser807Pro) n.3081T>C c.2578T>C (p.Ser860Pro) n.3211T>C c.2587T>C (p.Ser863Pro) c.2329T>C (p.Ser777Pro) n.2961T>C c.1429T>C (p.Ser477Pro) c.1546T>C (p.Ser516Pro) c.2764T>C (p.Ser922Pro) c.1831T>C (p.Ser611Pro) c.2935T>C (p.Ser979Pro) c.2782T>C (p.Ser928Pro) c.2746T>C (p.Ser916Pro) | |
| 1 | g.236885211T>G | CA345384689 | MTR | c.2767T>G (p.Ser923Ala) c.2614T>G (p.Ser872Ala) c.*1809T>G (n.*1809T>G) c.*1511T>G (n.*1511T>G) c.2419T>G (p.Ser807Ala) n.3081T>G c.2578T>G (p.Ser860Ala) n.3211T>G c.2587T>G (p.Ser863Ala) c.2329T>G (p.Ser777Ala) n.2961T>G c.1429T>G (p.Ser477Ala) c.1546T>G (p.Ser516Ala) c.2764T>G (p.Ser922Ala) c.1831T>G (p.Ser611Ala) c.2935T>G (p.Ser979Ala) c.2782T>G (p.Ser928Ala) c.2746T>G (p.Ser916Ala) | |
| 1 | g.236885212C>A | CA345384692 | MTR | c.2768C>A (p.Ser923Tyr) c.2615C>A (p.Ser872Tyr) c.*1810C>A (n.*1810C>A) c.*1512C>A (n.*1512C>A) c.2420C>A (p.Ser807Tyr) n.3082C>A c.2579C>A (p.Ser860Tyr) n.3212C>A c.2588C>A (p.Ser863Tyr) c.2330C>A (p.Ser777Tyr) n.2962C>A c.1430C>A (p.Ser477Tyr) c.1547C>A (p.Ser516Tyr) c.2765C>A (p.Ser922Tyr) c.1832C>A (p.Ser611Tyr) c.2936C>A (p.Ser979Tyr) c.2783C>A (p.Ser928Tyr) c.2747C>A (p.Ser916Tyr) | gnomAD v4 |
| 1 | g.236885212C>G | CA345384694 | MTR | c.2768C>G (p.Ser923Cys) c.2615C>G (p.Ser872Cys) c.*1810C>G (n.*1810C>G) c.*1512C>G (n.*1512C>G) c.2420C>G (p.Ser807Cys) n.3082C>G c.2579C>G (p.Ser860Cys) n.3212C>G c.2588C>G (p.Ser863Cys) c.2330C>G (p.Ser777Cys) n.2962C>G c.1430C>G (p.Ser477Cys) c.1547C>G (p.Ser516Cys) c.2765C>G (p.Ser922Cys) c.1832C>G (p.Ser611Cys) c.2936C>G (p.Ser979Cys) c.2783C>G (p.Ser928Cys) c.2747C>G (p.Ser916Cys) | |
| 1 | g.236885212C>T | CA345384695 | MTR | c.2768C>T (p.Ser923Phe) c.2615C>T (p.Ser872Phe) c.*1810C>T (n.*1810C>T) c.*1512C>T (n.*1512C>T) c.2420C>T (p.Ser807Phe) n.3082C>T c.2579C>T (p.Ser860Phe) n.3212C>T c.2588C>T (p.Ser863Phe) c.2330C>T (p.Ser777Phe) n.2962C>T c.1430C>T (p.Ser477Phe) c.1547C>T (p.Ser516Phe) c.2765C>T (p.Ser922Phe) c.1832C>T (p.Ser611Phe) c.2936C>T (p.Ser979Phe) c.2783C>T (p.Ser928Phe) c.2747C>T (p.Ser916Phe) | |
| 1 | g.236885213T>A | CA423816451 | MTR | c.2769T>A (p.Ser923=) c.2616T>A (p.Ser872=) c.*1811T>A (n.*1811T>A) c.*1513T>A (n.*1513T>A) c.2421T>A (p.Ser807=) n.3083T>A c.2580T>A (p.Ser860=) n.3213T>A c.2589T>A (p.Ser863=) c.2331T>A (p.Ser777=) n.2963T>A c.1431T>A (p.Ser477=) c.1548T>A (p.Ser516=) c.2766T>A (p.Ser922=) c.1833T>A (p.Ser611=) c.2937T>A (p.Ser979=) c.2784T>A (p.Ser928=) c.2748T>A (p.Ser916=) | |
| 1 | g.236885213T>C | CA423816452 | MTR | c.2769T>C (p.Ser923=) c.2616T>C (p.Ser872=) c.*1811T>C (n.*1811T>C) c.*1513T>C (n.*1513T>C) c.2421T>C (p.Ser807=) n.3083T>C c.2580T>C (p.Ser860=) n.3213T>C c.2589T>C (p.Ser863=) c.2331T>C (p.Ser777=) n.2963T>C c.1431T>C (p.Ser477=) c.1548T>C (p.Ser516=) c.2766T>C (p.Ser922=) c.1833T>C (p.Ser611=) c.2937T>C (p.Ser979=) c.2784T>C (p.Ser928=) c.2748T>C (p.Ser916=) | |
| 1 | g.236885213T>G | CA423816453 | MTR | c.2769T>G (p.Ser923=) c.2616T>G (p.Ser872=) c.*1811T>G (n.*1811T>G) c.*1513T>G (n.*1513T>G) c.2421T>G (p.Ser807=) n.3083T>G c.2580T>G (p.Ser860=) n.3213T>G c.2589T>G (p.Ser863=) c.2331T>G (p.Ser777=) n.2963T>G c.1431T>G (p.Ser477=) c.1548T>G (p.Ser516=) c.2766T>G (p.Ser922=) c.1833T>G (p.Ser611=) c.2937T>G (p.Ser979=) c.2784T>G (p.Ser928=) c.2748T>G (p.Ser916=) | |
| 1 | g.236885214C>A | CA345384696 | MTR | c.2770C>A (p.Leu924Ile) c.2617C>A (p.Leu873Ile) c.*1812C>A (n.*1812C>A) c.*1514C>A (n.*1514C>A) c.2422C>A (p.Leu808Ile) n.3084C>A c.2581C>A (p.Leu861Ile) n.3214C>A c.2590C>A (p.Leu864Ile) c.2332C>A (p.Leu778Ile) n.2964C>A c.1432C>A (p.Leu478Ile) c.1549C>A (p.Leu517Ile) c.2767C>A (p.Leu923Ile) c.1834C>A (p.Leu612Ile) c.2938C>A (p.Leu980Ile) c.2785C>A (p.Leu929Ile) c.2749C>A (p.Leu917Ile) | |
| 1 | g.236885214C= | CA2487103724 | MTR | c.2770C= (p.Leu924=) c.2617C= (p.Leu873=) c.*1812C= (n.*1812C=) c.*1514C= (n.*1514C=) c.2422C= (p.Leu808=) n.3084C= c.2581C= (p.Leu861=) n.3214C= c.2590C= (p.Leu864=) c.2332C= (p.Leu778=) n.2964C= c.1432C= (p.Leu478=) c.1549C= (p.Leu517=) c.2767C= (p.Leu923=) c.1834C= (p.Leu612=) c.2938C= (p.Leu980=) c.2785C= (p.Leu929=) c.2749C= (p.Leu917=) |