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 |
|---|---|---|---|---|---|
| 1 | g.236885124T>A | CA345384348 | MTR | c.2680T>A (p.Ser894Thr) c.2527T>A (p.Ser843Thr) c.*1722T>A (n.*1722T>A) c.*1424T>A (n.*1424T>A) c.2332T>A (p.Ser778Thr) n.2994T>A c.2491T>A (p.Ser831Thr) n.3124T>A c.2500T>A (p.Ser834Thr) c.2242T>A (p.Ser748Thr) n.2874T>A c.1342T>A (p.Ser448Thr) c.1459T>A (p.Ser487Thr) c.2677T>A (p.Ser893Thr) c.1744T>A (p.Ser582Thr) c.2848T>A (p.Ser950Thr) c.2695T>A (p.Ser899Thr) c.2659T>A (p.Ser887Thr) | |
| 1 | g.236885124T>C | CA345384350 | MTR | c.2680T>C (p.Ser894Pro) c.2527T>C (p.Ser843Pro) c.*1722T>C (n.*1722T>C) c.*1424T>C (n.*1424T>C) c.2332T>C (p.Ser778Pro) n.2994T>C c.2491T>C (p.Ser831Pro) n.3124T>C c.2500T>C (p.Ser834Pro) c.2242T>C (p.Ser748Pro) n.2874T>C c.1342T>C (p.Ser448Pro) c.1459T>C (p.Ser487Pro) c.2677T>C (p.Ser893Pro) c.1744T>C (p.Ser582Pro) c.2848T>C (p.Ser950Pro) c.2695T>C (p.Ser899Pro) c.2659T>C (p.Ser887Pro) | |
| 1 | g.236885124T>G | CA345384352 | MTR | c.2680T>G (p.Ser894Ala) c.2527T>G (p.Ser843Ala) c.*1722T>G (n.*1722T>G) c.*1424T>G (n.*1424T>G) c.2332T>G (p.Ser778Ala) n.2994T>G c.2491T>G (p.Ser831Ala) n.3124T>G c.2500T>G (p.Ser834Ala) c.2242T>G (p.Ser748Ala) n.2874T>G c.1342T>G (p.Ser448Ala) c.1459T>G (p.Ser487Ala) c.2677T>G (p.Ser893Ala) c.1744T>G (p.Ser582Ala) c.2848T>G (p.Ser950Ala) c.2695T>G (p.Ser899Ala) c.2659T>G (p.Ser887Ala) | |
| 1 | g.236885125C>A | CA345384353 | MTR | c.2681C>A (p.Ser894Tyr) c.2528C>A (p.Ser843Tyr) c.*1723C>A (n.*1723C>A) c.*1425C>A (n.*1425C>A) c.2333C>A (p.Ser778Tyr) n.2995C>A c.2492C>A (p.Ser831Tyr) n.3125C>A c.2501C>A (p.Ser834Tyr) c.2243C>A (p.Ser748Tyr) n.2875C>A c.1343C>A (p.Ser448Tyr) c.1460C>A (p.Ser487Tyr) c.2678C>A (p.Ser893Tyr) c.1745C>A (p.Ser582Tyr) c.2849C>A (p.Ser950Tyr) c.2696C>A (p.Ser899Tyr) c.2660C>A (p.Ser887Tyr) | |
| 1 | g.236885125C= | CA2487103699 | MTR | c.2681C= (p.Ser894=) c.2528C= (p.Ser843=) c.*1723C= (n.*1723C=) c.*1425C= (n.*1425C=) c.2333C= (p.Ser778=) n.2995C= c.2492C= (p.Ser831=) n.3125C= c.2501C= (p.Ser834=) c.2243C= (p.Ser748=) n.2875C= c.1343C= (p.Ser448=) c.1460C= (p.Ser487=) c.2678C= (p.Ser893=) c.1745C= (p.Ser582=) c.2849C= (p.Ser950=) c.2696C= (p.Ser899=) c.2660C= (p.Ser887=) | |
| 1 | g.236885125C>G | CA345384356 | MTR | c.2681C>G (p.Ser894Cys) c.2528C>G (p.Ser843Cys) c.*1723C>G (n.*1723C>G) c.*1425C>G (n.*1425C>G) c.2333C>G (p.Ser778Cys) n.2995C>G c.2492C>G (p.Ser831Cys) n.3125C>G c.2501C>G (p.Ser834Cys) c.2243C>G (p.Ser748Cys) n.2875C>G c.1343C>G (p.Ser448Cys) c.1460C>G (p.Ser487Cys) c.2678C>G (p.Ser893Cys) c.1745C>G (p.Ser582Cys) c.2849C>G (p.Ser950Cys) c.2696C>G (p.Ser899Cys) c.2660C>G (p.Ser887Cys) | |
| 1 | g.236885125C>T | CA1474487 | MTR | c.2681C>T (p.Ser894Phe) c.2528C>T (p.Ser843Phe) c.*1723C>T (n.*1723C>T) c.*1425C>T (n.*1425C>T) c.2333C>T (p.Ser778Phe) n.2995C>T c.2492C>T (p.Ser831Phe) n.3125C>T c.2501C>T (p.Ser834Phe) c.2243C>T (p.Ser748Phe) n.2875C>T c.1343C>T (p.Ser448Phe) c.1460C>T (p.Ser487Phe) c.2678C>T (p.Ser893Phe) c.1745C>T (p.Ser582Phe) c.2849C>T (p.Ser950Phe) c.2696C>T (p.Ser899Phe) c.2660C>T (p.Ser887Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.236885126C>A | CA423816313 | MTR | c.2682C>A (p.Ser894=) c.2529C>A (p.Ser843=) c.*1724C>A (n.*1724C>A) c.*1426C>A (n.*1426C>A) c.2334C>A (p.Ser778=) n.2996C>A c.2493C>A (p.Ser831=) n.3126C>A c.2502C>A (p.Ser834=) c.2244C>A (p.Ser748=) n.2876C>A c.1344C>A (p.Ser448=) c.1461C>A (p.Ser487=) c.2679C>A (p.Ser893=) c.1746C>A (p.Ser582=) c.2850C>A (p.Ser950=) c.2697C>A (p.Ser899=) c.2661C>A (p.Ser887=) | |
| 1 | g.236885126C= | CA2487103700 | MTR | c.2682C= (p.Ser894=) c.2529C= (p.Ser843=) c.*1724C= (n.*1724C=) c.*1426C= (n.*1426C=) c.2334C= (p.Ser778=) n.2996C= c.2493C= (p.Ser831=) n.3126C= c.2502C= (p.Ser834=) c.2244C= (p.Ser748=) n.2876C= c.1344C= (p.Ser448=) c.1461C= (p.Ser487=) c.2679C= (p.Ser893=) c.1746C= (p.Ser582=) c.2850C= (p.Ser950=) c.2697C= (p.Ser899=) c.2661C= (p.Ser887=) | |
| 1 | g.236885126C>G | CA423816314 | MTR | c.2682C>G (p.Ser894=) c.2529C>G (p.Ser843=) c.*1724C>G (n.*1724C>G) c.*1426C>G (n.*1426C>G) c.2334C>G (p.Ser778=) n.2996C>G c.2493C>G (p.Ser831=) n.3126C>G c.2502C>G (p.Ser834=) c.2244C>G (p.Ser748=) n.2876C>G c.1344C>G (p.Ser448=) c.1461C>G (p.Ser487=) c.2679C>G (p.Ser893=) c.1746C>G (p.Ser582=) c.2850C>G (p.Ser950=) c.2697C>G (p.Ser899=) c.2661C>G (p.Ser887=) | |
| 1 | g.236885126C>T | CA1474488 | MTR | c.2682C>T (p.Ser894=) c.2529C>T (p.Ser843=) c.*1724C>T (n.*1724C>T) c.*1426C>T (n.*1426C>T) c.2334C>T (p.Ser778=) n.2996C>T c.2493C>T (p.Ser831=) n.3126C>T c.2502C>T (p.Ser834=) c.2244C>T (p.Ser748=) n.2876C>T c.1344C>T (p.Ser448=) c.1461C>T (p.Ser487=) c.2679C>T (p.Ser893=) c.1746C>T (p.Ser582=) c.2850C>T (p.Ser950=) c.2697C>T (p.Ser899=) c.2661C>T (p.Ser887=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236885127C>A | CA345384360 | MTR | c.2683C>A (p.Gln895Lys) c.2530C>A (p.Gln844Lys) c.*1725C>A (n.*1725C>A) c.*1427C>A (n.*1427C>A) c.2335C>A (p.Gln779Lys) n.2997C>A c.2494C>A (p.Gln832Lys) n.3127C>A c.2503C>A (p.Gln835Lys) c.2245C>A (p.Gln749Lys) n.2877C>A c.1345C>A (p.Gln449Lys) c.1462C>A (p.Gln488Lys) c.2680C>A (p.Gln894Lys) c.1747C>A (p.Gln583Lys) c.2851C>A (p.Gln951Lys) c.2698C>A (p.Gln900Lys) c.2662C>A (p.Gln888Lys) | COSMIC |
| 1 | g.236885127C>G | CA345384362 | MTR | c.2683C>G (p.Gln895Glu) c.2530C>G (p.Gln844Glu) c.*1725C>G (n.*1725C>G) c.*1427C>G (n.*1427C>G) c.2335C>G (p.Gln779Glu) n.2997C>G c.2494C>G (p.Gln832Glu) n.3127C>G c.2503C>G (p.Gln835Glu) c.2245C>G (p.Gln749Glu) n.2877C>G c.1345C>G (p.Gln449Glu) c.1462C>G (p.Gln488Glu) c.2680C>G (p.Gln894Glu) c.1747C>G (p.Gln583Glu) c.2851C>G (p.Gln951Glu) c.2698C>G (p.Gln900Glu) c.2662C>G (p.Gln888Glu) | |
| 1 | g.236885127C>T | CA345384359 | MTR | c.2683C>T (p.Gln895Ter) c.2530C>T (p.Gln844Ter) c.*1725C>T (n.*1725C>T) c.*1427C>T (n.*1427C>T) c.2335C>T (p.Gln779Ter) n.2997C>T c.2494C>T (p.Gln832Ter) n.3127C>T c.2503C>T (p.Gln835Ter) c.2245C>T (p.Gln749Ter) n.2877C>T c.1345C>T (p.Gln449Ter) c.1462C>T (p.Gln488Ter) c.2680C>T (p.Gln894Ter) c.1747C>T (p.Gln583Ter) c.2851C>T (p.Gln951Ter) c.2698C>T (p.Gln900Ter) c.2662C>T (p.Gln888Ter) | |
| 1 | g.236885128A= | CA1142124309 | MTR | c.2684A= (p.Gln895=) c.2531A= (p.Gln844=) c.*1726A= (n.*1726A=) c.*1428A= (n.*1428A=) c.2336A= (p.Gln779=) n.2998A= c.2495A= (p.Gln832=) n.3128A= c.2504A= (p.Gln835=) c.2246A= (p.Gln749=) n.2878A= c.1346A= (p.Gln449=) c.1463A= (p.Gln488=) c.2681A= (p.Gln894=) c.1748A= (p.Gln583=) c.2852A= (p.Gln951=) c.2699A= (p.Gln900=) c.2663A= (p.Gln888=) | |
| 1 | g.236885128A>C | CA39764321 | MTR | c.2684A>C (p.Gln895Pro) c.2531A>C (p.Gln844Pro) c.*1726A>C (n.*1726A>C) c.*1428A>C (n.*1428A>C) c.2336A>C (p.Gln779Pro) n.2998A>C c.2495A>C (p.Gln832Pro) n.3128A>C c.2504A>C (p.Gln835Pro) c.2246A>C (p.Gln749Pro) n.2878A>C c.1346A>C (p.Gln449Pro) c.1463A>C (p.Gln488Pro) c.2681A>C (p.Gln894Pro) c.1748A>C (p.Gln583Pro) c.2852A>C (p.Gln951Pro) c.2699A>C (p.Gln900Pro) c.2663A>C (p.Gln888Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236885128A>G | CA345384363 | MTR | c.2684A>G (p.Gln895Arg) c.2531A>G (p.Gln844Arg) c.*1726A>G (n.*1726A>G) c.*1428A>G (n.*1428A>G) c.2336A>G (p.Gln779Arg) n.2998A>G c.2495A>G (p.Gln832Arg) n.3128A>G c.2504A>G (p.Gln835Arg) c.2246A>G (p.Gln749Arg) n.2878A>G c.1346A>G (p.Gln449Arg) c.1463A>G (p.Gln488Arg) c.2681A>G (p.Gln894Arg) c.1748A>G (p.Gln583Arg) c.2852A>G (p.Gln951Arg) c.2699A>G (p.Gln900Arg) c.2663A>G (p.Gln888Arg) | |
| 1 | g.236885128A>T | CA345384365 | MTR | c.2684A>T (p.Gln895Leu) c.2531A>T (p.Gln844Leu) c.*1726A>T (n.*1726A>T) c.*1428A>T (n.*1428A>T) c.2336A>T (p.Gln779Leu) n.2998A>T c.2495A>T (p.Gln832Leu) n.3128A>T c.2504A>T (p.Gln835Leu) c.2246A>T (p.Gln749Leu) n.2878A>T c.1346A>T (p.Gln449Leu) c.1463A>T (p.Gln488Leu) c.2681A>T (p.Gln894Leu) c.1748A>T (p.Gln583Leu) c.2852A>T (p.Gln951Leu) c.2699A>T (p.Gln900Leu) c.2663A>T (p.Gln888Leu) | |
| 1 | g.236885129G>A | CA423816320 | MTR | c.2685G>A (p.Gln895=) c.2532G>A (p.Gln844=) c.*1727G>A (n.*1727G>A) c.*1429G>A (n.*1429G>A) c.2337G>A (p.Gln779=) n.2999G>A c.2496G>A (p.Gln832=) n.3129G>A c.2505G>A (p.Gln835=) c.2247G>A (p.Gln749=) n.2879G>A c.1347G>A (p.Gln449=) c.1464G>A (p.Gln488=) c.2682G>A (p.Gln894=) c.1749G>A (p.Gln583=) c.2853G>A (p.Gln951=) c.2700G>A (p.Gln900=) c.2664G>A (p.Gln888=) | |
| 1 | g.236885129G>C | CA345384366 | MTR | c.2685G>C (p.Gln895His) c.2532G>C (p.Gln844His) c.*1727G>C (n.*1727G>C) c.*1429G>C (n.*1429G>C) c.2337G>C (p.Gln779His) n.2999G>C c.2496G>C (p.Gln832His) n.3129G>C c.2505G>C (p.Gln835His) c.2247G>C (p.Gln749His) n.2879G>C c.1347G>C (p.Gln449His) c.1464G>C (p.Gln488His) c.2682G>C (p.Gln894His) c.1749G>C (p.Gln583His) c.2853G>C (p.Gln951His) c.2700G>C (p.Gln900His) c.2664G>C (p.Gln888His) | |
| 1 | g.236885129G>T | CA345384367 | MTR | c.2685G>T (p.Gln895His) c.2532G>T (p.Gln844His) c.*1727G>T (n.*1727G>T) c.*1429G>T (n.*1429G>T) c.2337G>T (p.Gln779His) n.2999G>T c.2496G>T (p.Gln832His) n.3129G>T c.2505G>T (p.Gln835His) c.2247G>T (p.Gln749His) n.2879G>T c.1347G>T (p.Gln449His) c.1464G>T (p.Gln488His) c.2682G>T (p.Gln894His) c.1749G>T (p.Gln583His) c.2853G>T (p.Gln951His) c.2700G>T (p.Gln900His) c.2664G>T (p.Gln888His) | |
| 1 | g.236885130C>A | CA345384369 | MTR | c.2686C>A (p.Leu896Met) c.2533C>A (p.Leu845Met) c.*1728C>A (n.*1728C>A) c.*1430C>A (n.*1430C>A) c.2338C>A (p.Leu780Met) n.3000C>A c.2497C>A (p.Leu833Met) n.3130C>A c.2506C>A (p.Leu836Met) c.2248C>A (p.Leu750Met) n.2880C>A c.1348C>A (p.Leu450Met) c.1465C>A (p.Leu489Met) c.2683C>A (p.Leu895Met) c.1750C>A (p.Leu584Met) c.2854C>A (p.Leu952Met) c.2701C>A (p.Leu901Met) c.2665C>A (p.Leu889Met) | gnomAD v4 |
| 1 | g.236885130C= | CA1142198853 | MTR | c.2686C= (p.Leu896=) c.2533C= (p.Leu845=) c.*1728C= (n.*1728C=) c.*1430C= (n.*1430C=) c.2338C= (p.Leu780=) n.3000C= c.2497C= (p.Leu833=) n.3130C= c.2506C= (p.Leu836=) c.2248C= (p.Leu750=) n.2880C= c.1348C= (p.Leu450=) c.1465C= (p.Leu489=) c.2683C= (p.Leu895=) c.1750C= (p.Leu584=) c.2854C= (p.Leu952=) c.2701C= (p.Leu901=) c.2665C= (p.Leu889=) | |
| 1 | g.236885130C>G | CA345384370 | MTR | c.2686C>G (p.Leu896Val) c.2533C>G (p.Leu845Val) c.*1728C>G (n.*1728C>G) c.*1430C>G (n.*1430C>G) c.2338C>G (p.Leu780Val) n.3000C>G c.2497C>G (p.Leu833Val) n.3130C>G c.2506C>G (p.Leu836Val) c.2248C>G (p.Leu750Val) n.2880C>G c.1348C>G (p.Leu450Val) c.1465C>G (p.Leu489Val) c.2683C>G (p.Leu895Val) c.1750C>G (p.Leu584Val) c.2854C>G (p.Leu952Val) c.2701C>G (p.Leu901Val) c.2665C>G (p.Leu889Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236885130C>T | CA1474489 | MTR | c.2686C>T (p.Leu896=) c.2533C>T (p.Leu845=) c.*1728C>T (n.*1728C>T) c.*1430C>T (n.*1430C>T) c.2338C>T (p.Leu780=) n.3000C>T c.2497C>T (p.Leu833=) n.3130C>T c.2506C>T (p.Leu836=) c.2248C>T (p.Leu750=) n.2880C>T c.1348C>T (p.Leu450=) c.1465C>T (p.Leu489=) c.2683C>T (p.Leu895=) c.1750C>T (p.Leu584=) c.2854C>T (p.Leu952=) c.2701C>T (p.Leu901=) c.2665C>T (p.Leu889=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236885131T>A | CA345384372 | MTR | c.2687T>A (p.Leu896Gln) c.2534T>A (p.Leu845Gln) c.*1729T>A (n.*1729T>A) c.*1431T>A (n.*1431T>A) c.2339T>A (p.Leu780Gln) n.3001T>A c.2498T>A (p.Leu833Gln) n.3131T>A c.2507T>A (p.Leu836Gln) c.2249T>A (p.Leu750Gln) n.2881T>A c.1349T>A (p.Leu450Gln) c.1466T>A (p.Leu489Gln) c.2684T>A (p.Leu895Gln) c.1751T>A (p.Leu584Gln) c.2855T>A (p.Leu952Gln) c.2702T>A (p.Leu901Gln) c.2666T>A (p.Leu889Gln) | |
| 1 | g.236885131T>C | CA345384373 | MTR | c.2687T>C (p.Leu896Pro) c.2534T>C (p.Leu845Pro) c.*1729T>C (n.*1729T>C) c.*1431T>C (n.*1431T>C) c.2339T>C (p.Leu780Pro) n.3001T>C c.2498T>C (p.Leu833Pro) n.3131T>C c.2507T>C (p.Leu836Pro) c.2249T>C (p.Leu750Pro) n.2881T>C c.1349T>C (p.Leu450Pro) c.1466T>C (p.Leu489Pro) c.2684T>C (p.Leu895Pro) c.1751T>C (p.Leu584Pro) c.2855T>C (p.Leu952Pro) c.2702T>C (p.Leu901Pro) c.2666T>C (p.Leu889Pro) | |
| 1 | g.236885131T>G | CA345384375 | MTR | c.2687T>G (p.Leu896Arg) c.2534T>G (p.Leu845Arg) c.*1729T>G (n.*1729T>G) c.*1431T>G (n.*1431T>G) c.2339T>G (p.Leu780Arg) n.3001T>G c.2498T>G (p.Leu833Arg) n.3131T>G c.2507T>G (p.Leu836Arg) c.2249T>G (p.Leu750Arg) n.2881T>G c.1349T>G (p.Leu450Arg) c.1466T>G (p.Leu489Arg) c.2684T>G (p.Leu895Arg) c.1751T>G (p.Leu584Arg) c.2855T>G (p.Leu952Arg) c.2702T>G (p.Leu901Arg) c.2666T>G (p.Leu889Arg) | |
| 1 | g.236885132G>A | CA423816324 | MTR | c.2688G>A (p.Leu896=) c.2535G>A (p.Leu845=) c.*1730G>A (n.*1730G>A) c.*1432G>A (n.*1432G>A) c.2340G>A (p.Leu780=) n.3002G>A c.2499G>A (p.Leu833=) n.3132G>A c.2508G>A (p.Leu836=) c.2250G>A (p.Leu750=) n.2882G>A c.1350G>A (p.Leu450=) c.1467G>A (p.Leu489=) c.2685G>A (p.Leu895=) c.1752G>A (p.Leu584=) c.2856G>A (p.Leu952=) c.2703G>A (p.Leu901=) c.2667G>A (p.Leu889=) | gnomAD v4 |
| 1 | g.236885132G>C | CA423816328 | MTR | c.2688G>C (p.Leu896=) c.2535G>C (p.Leu845=) c.*1730G>C (n.*1730G>C) c.*1432G>C (n.*1432G>C) c.2340G>C (p.Leu780=) n.3002G>C c.2499G>C (p.Leu833=) n.3132G>C c.2508G>C (p.Leu836=) c.2250G>C (p.Leu750=) n.2882G>C c.1350G>C (p.Leu450=) c.1467G>C (p.Leu489=) c.2685G>C (p.Leu895=) c.1752G>C (p.Leu584=) c.2856G>C (p.Leu952=) c.2703G>C (p.Leu901=) c.2667G>C (p.Leu889=) | |
| 1 | g.236885132G>T | CA423816326 | MTR | c.2688G>T (p.Leu896=) c.2535G>T (p.Leu845=) c.*1730G>T (n.*1730G>T) c.*1432G>T (n.*1432G>T) c.2340G>T (p.Leu780=) n.3002G>T c.2499G>T (p.Leu833=) n.3132G>T c.2508G>T (p.Leu836=) c.2250G>T (p.Leu750=) n.2882G>T c.1350G>T (p.Leu450=) c.1467G>T (p.Leu489=) c.2685G>T (p.Leu895=) c.1752G>T (p.Leu584=) c.2856G>T (p.Leu952=) c.2703G>T (p.Leu901=) c.2667G>T (p.Leu889=) | |
| 1 | g.236885133T>A | CA345384376 | MTR | c.2689T>A (p.Leu897Ile) c.2536T>A (p.Leu846Ile) c.*1731T>A (n.*1731T>A) c.*1433T>A (n.*1433T>A) c.2341T>A (p.Leu781Ile) n.3003T>A c.2500T>A (p.Leu834Ile) n.3133T>A c.2509T>A (p.Leu837Ile) c.2251T>A (p.Leu751Ile) n.2883T>A c.1351T>A (p.Leu451Ile) c.1468T>A (p.Leu490Ile) c.2686T>A (p.Leu896Ile) c.1753T>A (p.Leu585Ile) c.2857T>A (p.Leu953Ile) c.2704T>A (p.Leu902Ile) c.2668T>A (p.Leu890Ile) | |
| 1 | g.236885133T>C | CA423816330 | MTR | c.2689T>C (p.Leu897=) c.2536T>C (p.Leu846=) c.*1731T>C (n.*1731T>C) c.*1433T>C (n.*1433T>C) c.2341T>C (p.Leu781=) n.3003T>C c.2500T>C (p.Leu834=) n.3133T>C c.2509T>C (p.Leu837=) c.2251T>C (p.Leu751=) n.2883T>C c.1351T>C (p.Leu451=) c.1468T>C (p.Leu490=) c.2686T>C (p.Leu896=) c.1753T>C (p.Leu585=) c.2857T>C (p.Leu953=) c.2704T>C (p.Leu902=) c.2668T>C (p.Leu890=) | |
| 1 | g.236885133T>G | CA345384378 | MTR | c.2689T>G (p.Leu897Val) c.2536T>G (p.Leu846Val) c.*1731T>G (n.*1731T>G) c.*1433T>G (n.*1433T>G) c.2341T>G (p.Leu781Val) n.3003T>G c.2500T>G (p.Leu834Val) n.3133T>G c.2509T>G (p.Leu837Val) c.2251T>G (p.Leu751Val) n.2883T>G c.1351T>G (p.Leu451Val) c.1468T>G (p.Leu490Val) c.2686T>G (p.Leu896Val) c.1753T>G (p.Leu585Val) c.2857T>G (p.Leu953Val) c.2704T>G (p.Leu902Val) c.2668T>G (p.Leu890Val) | |
| 1 | g.236885134del | CA2574163107 | MTR | c.2690del (p.Leu897Ter) c.2537del (p.Leu846Ter) c.*1732del (n.*1732del) c.*1434del (n.*1434del) c.2342del (p.Leu781Ter) n.3004del c.2501del (p.Leu834Ter) n.3134del c.2510del (p.Leu837Ter) c.2252del (p.Leu751Ter) n.2884del c.1352del (p.Leu451Ter) c.1469del (p.Leu490Ter) c.2687del (p.Leu896Ter) c.1754del (p.Leu585Ter) c.2858del (p.Leu953Ter) c.2705del (p.Leu902Ter) c.2669del (p.Leu890Ter) | |
| 1 | g.236885134T>A | CA345384383 | MTR | c.2690T>A (p.Leu897Ter) c.2537T>A (p.Leu846Ter) c.*1732T>A (n.*1732T>A) c.*1434T>A (n.*1434T>A) c.2342T>A (p.Leu781Ter) n.3004T>A c.2501T>A (p.Leu834Ter) n.3134T>A c.2510T>A (p.Leu837Ter) c.2252T>A (p.Leu751Ter) n.2884T>A c.1352T>A (p.Leu451Ter) c.1469T>A (p.Leu490Ter) c.2687T>A (p.Leu896Ter) c.1754T>A (p.Leu585Ter) c.2858T>A (p.Leu953Ter) c.2705T>A (p.Leu902Ter) c.2669T>A (p.Leu890Ter) | |
| 1 | g.236885134T>C | CA345384382 | MTR | c.2690T>C (p.Leu897Ser) c.2537T>C (p.Leu846Ser) c.*1732T>C (n.*1732T>C) c.*1434T>C (n.*1434T>C) c.2342T>C (p.Leu781Ser) n.3004T>C c.2501T>C (p.Leu834Ser) n.3134T>C c.2510T>C (p.Leu837Ser) c.2252T>C (p.Leu751Ser) n.2884T>C c.1352T>C (p.Leu451Ser) c.1469T>C (p.Leu490Ser) c.2687T>C (p.Leu896Ser) c.1754T>C (p.Leu585Ser) c.2858T>C (p.Leu953Ser) c.2705T>C (p.Leu902Ser) c.2669T>C (p.Leu890Ser) | |
| 1 | g.236885134T>G | CA345384380 | MTR | c.2690T>G (p.Leu897Ter) c.2537T>G (p.Leu846Ter) c.*1732T>G (n.*1732T>G) c.*1434T>G (n.*1434T>G) c.2342T>G (p.Leu781Ter) n.3004T>G c.2501T>G (p.Leu834Ter) n.3134T>G c.2510T>G (p.Leu837Ter) c.2252T>G (p.Leu751Ter) n.2884T>G c.1352T>G (p.Leu451Ter) c.1469T>G (p.Leu490Ter) c.2687T>G (p.Leu896Ter) c.1754T>G (p.Leu585Ter) c.2858T>G (p.Leu953Ter) c.2705T>G (p.Leu902Ter) c.2669T>G (p.Leu890Ter) | |
| 1 | g.236885135A>C | CA345384385 | MTR | c.2691A>C (p.Leu897Phe) c.2538A>C (p.Leu846Phe) c.*1733A>C (n.*1733A>C) c.*1435A>C (n.*1435A>C) c.2343A>C (p.Leu781Phe) n.3005A>C c.2502A>C (p.Leu834Phe) n.3135A>C c.2511A>C (p.Leu837Phe) c.2253A>C (p.Leu751Phe) n.2885A>C c.1353A>C (p.Leu451Phe) c.1470A>C (p.Leu490Phe) c.2688A>C (p.Leu896Phe) c.1755A>C (p.Leu585Phe) c.2859A>C (p.Leu953Phe) c.2706A>C (p.Leu902Phe) c.2670A>C (p.Leu890Phe) | |
| 1 | g.236885135A>G | CA423816334 | MTR | c.2691A>G (p.Leu897=) c.2538A>G (p.Leu846=) c.*1733A>G (n.*1733A>G) c.*1435A>G (n.*1435A>G) c.2343A>G (p.Leu781=) n.3005A>G c.2502A>G (p.Leu834=) n.3135A>G c.2511A>G (p.Leu837=) c.2253A>G (p.Leu751=) n.2885A>G c.1353A>G (p.Leu451=) c.1470A>G (p.Leu490=) c.2688A>G (p.Leu896=) c.1755A>G (p.Leu585=) c.2859A>G (p.Leu953=) c.2706A>G (p.Leu902=) c.2670A>G (p.Leu890=) | |
| 1 | g.236885135A>T | CA345384386 | MTR | c.2691A>T (p.Leu897Phe) c.2538A>T (p.Leu846Phe) c.*1733A>T (n.*1733A>T) c.*1435A>T (n.*1435A>T) c.2343A>T (p.Leu781Phe) n.3005A>T c.2502A>T (p.Leu834Phe) n.3135A>T c.2511A>T (p.Leu837Phe) c.2253A>T (p.Leu751Phe) n.2885A>T c.1353A>T (p.Leu451Phe) c.1470A>T (p.Leu490Phe) c.2688A>T (p.Leu896Phe) c.1755A>T (p.Leu585Phe) c.2859A>T (p.Leu953Phe) c.2706A>T (p.Leu902Phe) c.2670A>T (p.Leu890Phe) | |
| 1 | g.236885136G>A | CA345384389 | MTR | c.2692G>A (p.Asp898Asn) c.2539G>A (p.Asp847Asn) c.*1734G>A (n.*1734G>A) c.*1436G>A (n.*1436G>A) c.2344G>A (p.Asp782Asn) n.3006G>A c.2503G>A (p.Asp835Asn) n.3136G>A c.2512G>A (p.Asp838Asn) c.2254G>A (p.Asp752Asn) n.2886G>A c.1354G>A (p.Asp452Asn) c.1471G>A (p.Asp491Asn) c.2689G>A (p.Asp897Asn) c.1756G>A (p.Asp586Asn) c.2860G>A (p.Asp954Asn) c.2707G>A (p.Asp903Asn) c.2671G>A (p.Asp891Asn) | |
| 1 | g.236885136G>C | CA345384390 | MTR | c.2692G>C (p.Asp898His) c.2539G>C (p.Asp847His) c.*1734G>C (n.*1734G>C) c.*1436G>C (n.*1436G>C) c.2344G>C (p.Asp782His) n.3006G>C c.2503G>C (p.Asp835His) n.3136G>C c.2512G>C (p.Asp838His) c.2254G>C (p.Asp752His) n.2886G>C c.1354G>C (p.Asp452His) c.1471G>C (p.Asp491His) c.2689G>C (p.Asp897His) c.1756G>C (p.Asp586His) c.2860G>C (p.Asp954His) c.2707G>C (p.Asp903His) c.2671G>C (p.Asp891His) | |
| 1 | g.236885136G>T | CA345384391 | MTR | c.2692G>T (p.Asp898Tyr) c.2539G>T (p.Asp847Tyr) c.*1734G>T (n.*1734G>T) c.*1436G>T (n.*1436G>T) c.2344G>T (p.Asp782Tyr) n.3006G>T c.2503G>T (p.Asp835Tyr) n.3136G>T c.2512G>T (p.Asp838Tyr) c.2254G>T (p.Asp752Tyr) n.2886G>T c.1354G>T (p.Asp452Tyr) c.1471G>T (p.Asp491Tyr) c.2689G>T (p.Asp897Tyr) c.1756G>T (p.Asp586Tyr) c.2860G>T (p.Asp954Tyr) c.2707G>T (p.Asp903Tyr) c.2671G>T (p.Asp891Tyr) | |
| 1 | g.236885137A>C | CA345384393 | MTR | c.2693A>C (p.Asp898Ala) c.2540A>C (p.Asp847Ala) c.*1735A>C (n.*1735A>C) c.*1437A>C (n.*1437A>C) c.2345A>C (p.Asp782Ala) n.3007A>C c.2504A>C (p.Asp835Ala) n.3137A>C c.2513A>C (p.Asp838Ala) c.2255A>C (p.Asp752Ala) n.2887A>C c.1355A>C (p.Asp452Ala) c.1472A>C (p.Asp491Ala) c.2690A>C (p.Asp897Ala) c.1757A>C (p.Asp586Ala) c.2861A>C (p.Asp954Ala) c.2708A>C (p.Asp903Ala) c.2672A>C (p.Asp891Ala) | |
| 1 | g.236885137A>G | CA345384395 | MTR | c.2693A>G (p.Asp898Gly) c.2540A>G (p.Asp847Gly) c.*1735A>G (n.*1735A>G) c.*1437A>G (n.*1437A>G) c.2345A>G (p.Asp782Gly) n.3007A>G c.2504A>G (p.Asp835Gly) n.3137A>G c.2513A>G (p.Asp838Gly) c.2255A>G (p.Asp752Gly) n.2887A>G c.1355A>G (p.Asp452Gly) c.1472A>G (p.Asp491Gly) c.2690A>G (p.Asp897Gly) c.1757A>G (p.Asp586Gly) c.2861A>G (p.Asp954Gly) c.2708A>G (p.Asp903Gly) c.2672A>G (p.Asp891Gly) | |
| 1 | g.236885137A>T | CA345384396 | MTR | c.2693A>T (p.Asp898Val) c.2540A>T (p.Asp847Val) c.*1735A>T (n.*1735A>T) c.*1437A>T (n.*1437A>T) c.2345A>T (p.Asp782Val) n.3007A>T c.2504A>T (p.Asp835Val) n.3137A>T c.2513A>T (p.Asp838Val) c.2255A>T (p.Asp752Val) n.2887A>T c.1355A>T (p.Asp452Val) c.1472A>T (p.Asp491Val) c.2690A>T (p.Asp897Val) c.1757A>T (p.Asp586Val) c.2861A>T (p.Asp954Val) c.2708A>T (p.Asp903Val) c.2672A>T (p.Asp891Val) | |
| 1 | g.236885138T>A | CA345384397 | MTR | c.2694T>A (p.Asp898Glu) c.2541T>A (p.Asp847Glu) c.*1736T>A (n.*1736T>A) c.*1438T>A (n.*1438T>A) c.2346T>A (p.Asp782Glu) n.3008T>A c.2505T>A (p.Asp835Glu) n.3138T>A c.2514T>A (p.Asp838Glu) c.2256T>A (p.Asp752Glu) n.2888T>A c.1356T>A (p.Asp452Glu) c.1473T>A (p.Asp491Glu) c.2691T>A (p.Asp897Glu) c.1758T>A (p.Asp586Glu) c.2862T>A (p.Asp954Glu) c.2709T>A (p.Asp903Glu) c.2673T>A (p.Asp891Glu) | |
| 1 | g.236885138T>C | CA423816338 | MTR | c.2694T>C (p.Asp898=) c.2541T>C (p.Asp847=) c.*1736T>C (n.*1736T>C) c.*1438T>C (n.*1438T>C) c.2346T>C (p.Asp782=) n.3008T>C c.2505T>C (p.Asp835=) n.3138T>C c.2514T>C (p.Asp838=) c.2256T>C (p.Asp752=) n.2888T>C c.1356T>C (p.Asp452=) c.1473T>C (p.Asp491=) c.2691T>C (p.Asp897=) c.1758T>C (p.Asp586=) c.2862T>C (p.Asp954=) c.2709T>C (p.Asp903=) c.2673T>C (p.Asp891=) | |
| 1 | g.236885138T>G | CA345384399 | MTR | c.2694T>G (p.Asp898Glu) c.2541T>G (p.Asp847Glu) c.*1736T>G (n.*1736T>G) c.*1438T>G (n.*1438T>G) c.2346T>G (p.Asp782Glu) n.3008T>G c.2505T>G (p.Asp835Glu) n.3138T>G c.2514T>G (p.Asp838Glu) c.2256T>G (p.Asp752Glu) n.2888T>G c.1356T>G (p.Asp452Glu) c.1473T>G (p.Asp491Glu) c.2691T>G (p.Asp897Glu) c.1758T>G (p.Asp586Glu) c.2862T>G (p.Asp954Glu) c.2709T>G (p.Asp903Glu) c.2673T>G (p.Asp891Glu) |