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 |
|---|---|---|---|---|---|
| 1 | g.236885205dup | CA2740235364 | MTR | c.2761dup (p.Tyr921LeufsTer2) c.2608dup (p.Tyr870LeufsTer2) c.*1803dup (n.*1803dup) c.*1505dup (n.*1505dup) c.2413dup (p.Tyr805LeufsTer2) n.3075dup c.2572dup (p.Tyr858LeufsTer2) n.3205dup c.2581dup (p.Tyr861LeufsTer2) c.2323dup (p.Tyr775LeufsTer2) n.2955dup c.1423dup (p.Tyr475LeufsTer2) c.1540dup (p.Tyr514LeufsTer2) c.2758dup (p.Tyr920LeufsTer2) c.1825dup (p.Tyr609LeufsTer2) c.2929dup (p.Tyr977LeufsTer2) c.2776dup (p.Tyr926LeufsTer2) c.2740dup (p.Tyr914LeufsTer2) | |
| 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=) | |
| 1 | g.236885214C>G | CA1474496 | MTR | c.2770C>G (p.Leu924Val) c.2617C>G (p.Leu873Val) c.*1812C>G (n.*1812C>G) c.*1514C>G (n.*1514C>G) c.2422C>G (p.Leu808Val) n.3084C>G c.2581C>G (p.Leu861Val) n.3214C>G c.2590C>G (p.Leu864Val) c.2332C>G (p.Leu778Val) n.2964C>G c.1432C>G (p.Leu478Val) c.1549C>G (p.Leu517Val) c.2767C>G (p.Leu923Val) c.1834C>G (p.Leu612Val) c.2938C>G (p.Leu980Val) c.2785C>G (p.Leu929Val) c.2749C>G (p.Leu917Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236885214C>T | CA345384697 | MTR | c.2770C>T (p.Leu924Phe) c.2617C>T (p.Leu873Phe) c.*1812C>T (n.*1812C>T) c.*1514C>T (n.*1514C>T) c.2422C>T (p.Leu808Phe) n.3084C>T c.2581C>T (p.Leu861Phe) n.3214C>T c.2590C>T (p.Leu864Phe) c.2332C>T (p.Leu778Phe) n.2964C>T c.1432C>T (p.Leu478Phe) c.1549C>T (p.Leu517Phe) c.2767C>T (p.Leu923Phe) c.1834C>T (p.Leu612Phe) c.2938C>T (p.Leu980Phe) c.2785C>T (p.Leu929Phe) c.2749C>T (p.Leu917Phe) | dbSNP gnomAD v4 |
| 1 | g.236885215T>A | CA345384699 | MTR | c.2771T>A (p.Leu924His) c.2618T>A (p.Leu873His) c.*1813T>A (n.*1813T>A) c.*1515T>A (n.*1515T>A) c.2423T>A (p.Leu808His) n.3085T>A c.2582T>A (p.Leu861His) n.3215T>A c.2591T>A (p.Leu864His) c.2333T>A (p.Leu778His) n.2965T>A c.1433T>A (p.Leu478His) c.1550T>A (p.Leu517His) c.2768T>A (p.Leu923His) c.1835T>A (p.Leu612His) c.2939T>A (p.Leu980His) c.2786T>A (p.Leu929His) c.2750T>A (p.Leu917His) | |
| 1 | g.236885215T>C | CA345384702 | MTR | c.2771T>C (p.Leu924Pro) c.2618T>C (p.Leu873Pro) c.*1813T>C (n.*1813T>C) c.*1515T>C (n.*1515T>C) c.2423T>C (p.Leu808Pro) n.3085T>C c.2582T>C (p.Leu861Pro) n.3215T>C c.2591T>C (p.Leu864Pro) c.2333T>C (p.Leu778Pro) n.2965T>C c.1433T>C (p.Leu478Pro) c.1550T>C (p.Leu517Pro) c.2768T>C (p.Leu923Pro) c.1835T>C (p.Leu612Pro) c.2939T>C (p.Leu980Pro) c.2786T>C (p.Leu929Pro) c.2750T>C (p.Leu917Pro) | |
| 1 | g.236885215T>G | CA345384700 | MTR | c.2771T>G (p.Leu924Arg) c.2618T>G (p.Leu873Arg) c.*1813T>G (n.*1813T>G) c.*1515T>G (n.*1515T>G) c.2423T>G (p.Leu808Arg) n.3085T>G c.2582T>G (p.Leu861Arg) n.3215T>G c.2591T>G (p.Leu864Arg) c.2333T>G (p.Leu778Arg) n.2965T>G c.1433T>G (p.Leu478Arg) c.1550T>G (p.Leu517Arg) c.2768T>G (p.Leu923Arg) c.1835T>G (p.Leu612Arg) c.2939T>G (p.Leu980Arg) c.2786T>G (p.Leu929Arg) c.2750T>G (p.Leu917Arg) | |
| 1 | g.236885216C>A | CA423816455 | MTR | c.2772C>A (p.Leu924=) c.2619C>A (p.Leu873=) c.*1814C>A (n.*1814C>A) c.*1516C>A (n.*1516C>A) c.2424C>A (p.Leu808=) n.3086C>A c.2583C>A (p.Leu861=) n.3216C>A c.2592C>A (p.Leu864=) c.2334C>A (p.Leu778=) n.2966C>A c.1434C>A (p.Leu478=) c.1551C>A (p.Leu517=) c.2769C>A (p.Leu923=) c.1836C>A (p.Leu612=) c.2940C>A (p.Leu980=) c.2787C>A (p.Leu929=) c.2751C>A (p.Leu917=) | gnomAD v4 |
| 1 | g.236885216C= | CA1144713516 | MTR | c.2772C= (p.Leu924=) c.2619C= (p.Leu873=) c.*1814C= (n.*1814C=) c.*1516C= (n.*1516C=) c.2424C= (p.Leu808=) n.3086C= c.2583C= (p.Leu861=) n.3216C= c.2592C= (p.Leu864=) c.2334C= (p.Leu778=) n.2966C= c.1434C= (p.Leu478=) c.1551C= (p.Leu517=) c.2769C= (p.Leu923=) c.1836C= (p.Leu612=) c.2940C= (p.Leu980=) c.2787C= (p.Leu929=) c.2751C= (p.Leu917=) | |
| 1 | g.236885216C>G | CA1474497 | MTR | c.2772C>G (p.Leu924=) c.2619C>G (p.Leu873=) c.*1814C>G (n.*1814C>G) c.*1516C>G (n.*1516C>G) c.2424C>G (p.Leu808=) n.3086C>G c.2583C>G (p.Leu861=) n.3216C>G c.2592C>G (p.Leu864=) c.2334C>G (p.Leu778=) n.2966C>G c.1434C>G (p.Leu478=) c.1551C>G (p.Leu517=) c.2769C>G (p.Leu923=) c.1836C>G (p.Leu612=) c.2940C>G (p.Leu980=) c.2787C>G (p.Leu929=) c.2751C>G (p.Leu917=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236885216C>T | CA423816456 | MTR | c.2772C>T (p.Leu924=) c.2619C>T (p.Leu873=) c.*1814C>T (n.*1814C>T) c.*1516C>T (n.*1516C>T) c.2424C>T (p.Leu808=) n.3086C>T c.2583C>T (p.Leu861=) n.3216C>T c.2592C>T (p.Leu864=) c.2334C>T (p.Leu778=) n.2966C>T c.1434C>T (p.Leu478=) c.1551C>T (p.Leu517=) c.2769C>T (p.Leu923=) c.1836C>T (p.Leu612=) c.2940C>T (p.Leu980=) c.2787C>T (p.Leu929=) c.2751C>T (p.Leu917=) | dbSNP |
| 1 | g.236885217A>C | CA345384711 | MTR | c.2773A>C (p.Lys925Gln) c.2620A>C (p.Lys874Gln) c.*1815A>C (n.*1815A>C) c.*1517A>C (n.*1517A>C) c.2425A>C (p.Lys809Gln) n.3087A>C c.2584A>C (p.Lys862Gln) n.3217A>C c.2593A>C (p.Lys865Gln) c.2335A>C (p.Lys779Gln) n.2967A>C c.1435A>C (p.Lys479Gln) c.1552A>C (p.Lys518Gln) c.2770A>C (p.Lys924Gln) c.1837A>C (p.Lys613Gln) c.2941A>C (p.Lys981Gln) c.2788A>C (p.Lys930Gln) c.2752A>C (p.Lys918Gln) | gnomAD v4 |
| 1 | g.236885217A>G | CA345384712 | MTR | c.2773A>G (p.Lys925Glu) c.2620A>G (p.Lys874Glu) c.*1815A>G (n.*1815A>G) c.*1517A>G (n.*1517A>G) c.2425A>G (p.Lys809Glu) n.3087A>G c.2584A>G (p.Lys862Glu) n.3217A>G c.2593A>G (p.Lys865Glu) c.2335A>G (p.Lys779Glu) n.2967A>G c.1435A>G (p.Lys479Glu) c.1552A>G (p.Lys518Glu) c.2770A>G (p.Lys924Glu) c.1837A>G (p.Lys613Glu) c.2941A>G (p.Lys981Glu) c.2788A>G (p.Lys930Glu) c.2752A>G (p.Lys918Glu) | gnomAD v4 |
| 1 | g.236885217A>T | CA345384713 | MTR | c.2773A>T (p.Lys925Ter) c.2620A>T (p.Lys874Ter) c.*1815A>T (n.*1815A>T) c.*1517A>T (n.*1517A>T) c.2425A>T (p.Lys809Ter) n.3087A>T c.2584A>T (p.Lys862Ter) n.3217A>T c.2593A>T (p.Lys865Ter) c.2335A>T (p.Lys779Ter) n.2967A>T c.1435A>T (p.Lys479Ter) c.1552A>T (p.Lys518Ter) c.2770A>T (p.Lys924Ter) c.1837A>T (p.Lys613Ter) c.2941A>T (p.Lys981Ter) c.2788A>T (p.Lys930Ter) c.2752A>T (p.Lys918Ter) | |
| 1 | g.236885218A>C | CA345384715 | MTR | c.2774A>C (p.Lys925Thr) c.2621A>C (p.Lys874Thr) c.*1816A>C (n.*1816A>C) c.*1518A>C (n.*1518A>C) c.2426A>C (p.Lys809Thr) n.3088A>C c.2585A>C (p.Lys862Thr) n.3218A>C c.2594A>C (p.Lys865Thr) c.2336A>C (p.Lys779Thr) n.2968A>C c.1436A>C (p.Lys479Thr) c.1553A>C (p.Lys518Thr) c.2771A>C (p.Lys924Thr) c.1838A>C (p.Lys613Thr) c.2942A>C (p.Lys981Thr) c.2789A>C (p.Lys930Thr) c.2753A>C (p.Lys918Thr) | |
| 1 | g.236885218A>G | CA345384716 | MTR | c.2774A>G (p.Lys925Arg) c.2621A>G (p.Lys874Arg) c.*1816A>G (n.*1816A>G) c.*1518A>G (n.*1518A>G) c.2426A>G (p.Lys809Arg) n.3088A>G c.2585A>G (p.Lys862Arg) n.3218A>G c.2594A>G (p.Lys865Arg) c.2336A>G (p.Lys779Arg) n.2968A>G c.1436A>G (p.Lys479Arg) c.1553A>G (p.Lys518Arg) c.2771A>G (p.Lys924Arg) c.1838A>G (p.Lys613Arg) c.2942A>G (p.Lys981Arg) c.2789A>G (p.Lys930Arg) c.2753A>G (p.Lys918Arg) | |
| 1 | g.236885218A>T | CA345384717 | MTR | c.2774A>T (p.Lys925Met) c.2621A>T (p.Lys874Met) c.*1816A>T (n.*1816A>T) c.*1518A>T (n.*1518A>T) c.2426A>T (p.Lys809Met) n.3088A>T c.2585A>T (p.Lys862Met) n.3218A>T c.2594A>T (p.Lys865Met) c.2336A>T (p.Lys779Met) n.2968A>T c.1436A>T (p.Lys479Met) c.1553A>T (p.Lys518Met) c.2771A>T (p.Lys924Met) c.1838A>T (p.Lys613Met) c.2942A>T (p.Lys981Met) c.2789A>T (p.Lys930Met) c.2753A>T (p.Lys918Met) | |
| 1 | g.236885219G>A | CA423816460 | MTR | c.2775G>A (p.Lys925=) c.2622G>A (p.Lys874=) c.*1817G>A (n.*1817G>A) c.*1519G>A (n.*1519G>A) c.2427G>A (p.Lys809=) n.3089G>A c.2586G>A (p.Lys862=) n.3219G>A c.2595G>A (p.Lys865=) c.2337G>A (p.Lys779=) n.2969G>A c.1437G>A (p.Lys479=) c.1554G>A (p.Lys518=) c.2772G>A (p.Lys924=) c.1839G>A (p.Lys613=) c.2943G>A (p.Lys981=) c.2790G>A (p.Lys930=) c.2754G>A (p.Lys918=) | |
| 1 | g.236885219G>C | CA345384719 | MTR | c.2775G>C (p.Lys925Asn) c.2622G>C (p.Lys874Asn) c.*1817G>C (n.*1817G>C) c.*1519G>C (n.*1519G>C) c.2427G>C (p.Lys809Asn) n.3089G>C c.2586G>C (p.Lys862Asn) n.3219G>C c.2595G>C (p.Lys865Asn) c.2337G>C (p.Lys779Asn) n.2969G>C c.1437G>C (p.Lys479Asn) c.1554G>C (p.Lys518Asn) c.2772G>C (p.Lys924Asn) c.1839G>C (p.Lys613Asn) c.2943G>C (p.Lys981Asn) c.2790G>C (p.Lys930Asn) c.2754G>C (p.Lys918Asn) |