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 |
|---|---|---|---|---|---|
| 2 | g.178792112_178794081del | CA916081376 | TTN | c.1398+320_1624del c.186+320_412del c.1443+320_1672del c.1443+320_1669del c.1398+320_1627del | ClinVar |
| 2 | g.178793500T>A | CA430114752 | TTN | c.1440A>T (p.Val480=) c.228A>T (p.Val76=) c.1488A>T (p.Val496=) c.1485A>T (p.Val495=) c.1443A>T (p.Val481=) | dbSNP |
| 2 | g.178793500T>C | CA430114754 | TTN | c.1440A>G (p.Val480=) c.228A>G (p.Val76=) c.1488A>G (p.Val496=) c.1485A>G (p.Val495=) c.1443A>G (p.Val481=) | |
| 2 | g.178793500T>G | CA2006044 | TTN | c.1440A>C (p.Val480=) c.228A>C (p.Val76=) c.1488A>C (p.Val496=) c.1485A>C (p.Val495=) c.1443A>C (p.Val481=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793500T= | CA1310624906 | TTN | c.1440A= (p.Val480=) c.228A= (p.Val76=) c.1488A= (p.Val496=) c.1485A= (p.Val495=) c.1443A= (p.Val481=) | |
| 2 | g.178793501A>C | CA349513460 | TTN | c.1439T>G (p.Val480Gly) c.227T>G (p.Val76Gly) c.1487T>G (p.Val496Gly) c.1484T>G (p.Val495Gly) c.1442T>G (p.Val481Gly) | |
| 2 | g.178793501A>G | CA349513461 | TTN | c.1439T>C (p.Val480Ala) c.227T>C (p.Val76Ala) c.1487T>C (p.Val496Ala) c.1484T>C (p.Val495Ala) c.1442T>C (p.Val481Ala) | |
| 2 | g.178793501A>T | CA349513464 | TTN | c.1439T>A (p.Val480Glu) c.227T>A (p.Val76Glu) c.1487T>A (p.Val496Glu) c.1484T>A (p.Val495Glu) c.1442T>A (p.Val481Glu) | |
| 2 | g.178793502C>A | CA349513468 | TTN | c.1438G>T (p.Val480Leu) c.226G>T (p.Val76Leu) c.1486G>T (p.Val496Leu) c.1483G>T (p.Val495Leu) c.1441G>T (p.Val481Leu) | |
| 2 | g.178793502C>G | CA349513470 | TTN | c.1438G>C (p.Val480Leu) c.226G>C (p.Val76Leu) c.1486G>C (p.Val496Leu) c.1483G>C (p.Val495Leu) c.1441G>C (p.Val481Leu) | |
| 2 | g.178793502C>T | CA349513469 | TTN | c.1438G>A (p.Val480Ile) c.226G>A (p.Val76Ile) c.1486G>A (p.Val496Ile) c.1483G>A (p.Val495Ile) c.1441G>A (p.Val481Ile) | |
| 2 | g.178793503T>A | CA430114777 | TTN | c.1437A>T (p.Val479=) c.225A>T (p.Val75=) c.1485A>T (p.Val495=) c.1482A>T (p.Val494=) c.1440A>T (p.Val480=) | |
| 2 | g.178793503T>C | CA430114779 | TTN | c.1437A>G (p.Val479=) c.225A>G (p.Val75=) c.1485A>G (p.Val495=) c.1482A>G (p.Val494=) c.1440A>G (p.Val480=) | gnomAD v4 |
| 2 | g.178793503T>G | CA430114783 | TTN | c.1437A>C (p.Val479=) c.225A>C (p.Val75=) c.1485A>C (p.Val495=) c.1482A>C (p.Val494=) c.1440A>C (p.Val480=) | |
| 2 | g.178793504A>C | CA349513472 | TTN | c.1436T>G (p.Val479Gly) c.224T>G (p.Val75Gly) c.1484T>G (p.Val495Gly) c.1481T>G (p.Val494Gly) c.1439T>G (p.Val480Gly) | |
| 2 | g.178793504A>G | CA349513474 | TTN | c.1436T>C (p.Val479Ala) c.224T>C (p.Val75Ala) c.1484T>C (p.Val495Ala) c.1481T>C (p.Val494Ala) c.1439T>C (p.Val480Ala) | gnomAD v4 |
| 2 | g.178793504A>T | CA349513478 | TTN | c.1436T>A (p.Val479Glu) c.224T>A (p.Val75Glu) c.1484T>A (p.Val495Glu) c.1481T>A (p.Val494Glu) c.1439T>A (p.Val480Glu) | |
| 2 | g.178793505C>A | CA349513482 | TTN | c.1435G>T (p.Val479Leu) c.223G>T (p.Val75Leu) c.1483G>T (p.Val495Leu) c.1480G>T (p.Val494Leu) c.1438G>T (p.Val480Leu) | |
| 2 | g.178793505C= | CA1310624907 | TTN | c.1435G= (p.Val479=) c.223G= (p.Val75=) c.1483G= (p.Val495=) c.1480G= (p.Val494=) c.1438G= (p.Val480=) | |
| 2 | g.178793505C>G | CA349513485 | TTN | c.1435G>C (p.Val479Leu) c.223G>C (p.Val75Leu) c.1483G>C (p.Val495Leu) c.1480G>C (p.Val494Leu) c.1438G>C (p.Val480Leu) | |
| 2 | g.178793505C>T | CA349513487 | TTN | c.1435G>A (p.Val479Ile) c.223G>A (p.Val75Ile) c.1483G>A (p.Val495Ile) c.1480G>A (p.Val494Ile) c.1438G>A (p.Val480Ile) | dbSNP |
| 2 | g.178793506C>A | CA349513492 | TTN | c.1434G>T (p.Lys478Asn) c.222G>T (p.Lys74Asn) c.1482G>T (p.Lys494Asn) c.1479G>T (p.Lys493Asn) c.1437G>T (p.Lys479Asn) | |
| 2 | g.178793506C= | CA1310624908 | TTN | c.1434G= (p.Lys478=) c.222G= (p.Lys74=) c.1482G= (p.Lys494=) c.1479G= (p.Lys493=) c.1437G= (p.Lys479=) | |
| 2 | g.178793506C>G | CA349513494 | TTN | c.1434G>C (p.Lys478Asn) c.222G>C (p.Lys74Asn) c.1482G>C (p.Lys494Asn) c.1479G>C (p.Lys493Asn) c.1437G>C (p.Lys479Asn) | |
| 2 | g.178793506C>T | CA430114798 | TTN | c.1434G>A (p.Lys478=) c.222G>A (p.Lys74=) c.1482G>A (p.Lys494=) c.1479G>A (p.Lys493=) c.1437G>A (p.Lys479=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178793507T>A | CA349513501 | TTN | c.1433A>T (p.Lys478Met) c.221A>T (p.Lys74Met) c.1481A>T (p.Lys494Met) c.1478A>T (p.Lys493Met) c.1436A>T (p.Lys479Met) | |
| 2 | g.178793507T>C | CA349513503 | TTN | c.1433A>G (p.Lys478Arg) c.221A>G (p.Lys74Arg) c.1481A>G (p.Lys494Arg) c.1478A>G (p.Lys493Arg) c.1436A>G (p.Lys479Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178793507T>G | CA349513506 | TTN | c.1433A>C (p.Lys478Thr) c.221A>C (p.Lys74Thr) c.1481A>C (p.Lys494Thr) c.1478A>C (p.Lys493Thr) c.1436A>C (p.Lys479Thr) | gnomAD v4 |
| 2 | g.178793507T= | CA1310624909 | TTN | c.1433A= (p.Lys478=) c.221A= (p.Lys74=) c.1481A= (p.Lys494=) c.1478A= (p.Lys493=) c.1436A= (p.Lys479=) | |
| 2 | g.178793508T>A | CA349513508 | TTN | c.1432A>T (p.Lys478Ter) c.220A>T (p.Lys74Ter) c.1480A>T (p.Lys494Ter) c.1477A>T (p.Lys493Ter) c.1435A>T (p.Lys479Ter) | |
| 2 | g.178793508T>C | CA60986041 | TTN | c.1432A>G (p.Lys478Glu) c.220A>G (p.Lys74Glu) c.1480A>G (p.Lys494Glu) c.1477A>G (p.Lys493Glu) c.1435A>G (p.Lys479Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793508T>G | CA349513507 | TTN | c.1432A>C (p.Lys478Gln) c.220A>C (p.Lys74Gln) c.1480A>C (p.Lys494Gln) c.1477A>C (p.Lys493Gln) c.1435A>C (p.Lys479Gln) | |
| 2 | g.178793508T= | CA1310624910 | TTN | c.1432A= (p.Lys478=) c.220A= (p.Lys74=) c.1480A= (p.Lys494=) c.1477A= (p.Lys493=) c.1435A= (p.Lys479=) | |
| 2 | g.178793509A>C | CA430114806 | TTN | c.1431T>G (p.Thr477=) c.219T>G (p.Thr73=) c.1479T>G (p.Thr493=) c.1476T>G (p.Thr492=) c.1434T>G (p.Thr478=) | |
| 2 | g.178793509A>G | CA430114807 | TTN | c.1431T>C (p.Thr477=) c.219T>C (p.Thr73=) c.1479T>C (p.Thr493=) c.1476T>C (p.Thr492=) c.1434T>C (p.Thr478=) | |
| 2 | g.178793509A>T | CA430114809 | TTN | c.1431T>A (p.Thr477=) c.219T>A (p.Thr73=) c.1479T>A (p.Thr493=) c.1476T>A (p.Thr492=) c.1434T>A (p.Thr478=) | |
| 2 | g.178793510G>A | CA349513510 | TTN | c.1430C>T (p.Thr477Ile) c.218C>T (p.Thr73Ile) c.1478C>T (p.Thr493Ile) c.1475C>T (p.Thr492Ile) c.1433C>T (p.Thr478Ile) | |
| 2 | g.178793510G>C | CA349513523 | TTN | c.1430C>G (p.Thr477Ser) c.218C>G (p.Thr73Ser) c.1478C>G (p.Thr493Ser) c.1475C>G (p.Thr492Ser) c.1433C>G (p.Thr478Ser) | |
| 2 | g.178793510G>T | CA349513516 | TTN | c.1430C>A (p.Thr477Asn) c.218C>A (p.Thr73Asn) c.1478C>A (p.Thr493Asn) c.1475C>A (p.Thr492Asn) c.1433C>A (p.Thr478Asn) | |
| 2 | g.178793511T>A | CA179417 | TTN | c.1429A>T (p.Thr477Ser) c.217A>T (p.Thr73Ser) c.1477A>T (p.Thr493Ser) c.1474A>T (p.Thr492Ser) c.1432A>T (p.Thr478Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793511T>C | CA349513532 | TTN | c.1429A>G (p.Thr477Ala) c.217A>G (p.Thr73Ala) c.1477A>G (p.Thr493Ala) c.1474A>G (p.Thr492Ala) c.1432A>G (p.Thr478Ala) | |
| 2 | g.178793511T>G | CA349513528 | TTN | c.1429A>C (p.Thr477Pro) c.217A>C (p.Thr73Pro) c.1477A>C (p.Thr493Pro) c.1474A>C (p.Thr492Pro) c.1432A>C (p.Thr478Pro) | |
| 2 | g.178793511T= | CA1310624911 | TTN | c.1429A= (p.Thr477=) c.217A= (p.Thr73=) c.1477A= (p.Thr493=) c.1474A= (p.Thr492=) c.1432A= (p.Thr478=) | |
| 2 | g.178793512T>A | CA430114818 | TTN | c.1428A>T (p.Val476=) c.216A>T (p.Val72=) c.1476A>T (p.Val492=) c.1473A>T (p.Val491=) c.1431A>T (p.Val477=) | |
| 2 | g.178793512T>C | CA430114820 | TTN | c.1428A>G (p.Val476=) c.216A>G (p.Val72=) c.1476A>G (p.Val492=) c.1473A>G (p.Val491=) c.1431A>G (p.Val477=) | gnomAD v4 |
| 2 | g.178793512T>G | CA430114821 | TTN | c.1428A>C (p.Val476=) c.216A>C (p.Val72=) c.1476A>C (p.Val492=) c.1473A>C (p.Val491=) c.1431A>C (p.Val477=) | gnomAD v4 |
| 2 | g.178793513A>C | CA349513537 | TTN | c.1427T>G (p.Val476Gly) c.215T>G (p.Val72Gly) c.1475T>G (p.Val492Gly) c.1472T>G (p.Val491Gly) c.1430T>G (p.Val477Gly) | |
| 2 | g.178793513A>G | CA349513539 | TTN | c.1427T>C (p.Val476Ala) c.215T>C (p.Val72Ala) c.1475T>C (p.Val492Ala) c.1472T>C (p.Val491Ala) c.1430T>C (p.Val477Ala) | |
| 2 | g.178793513A>T | CA349513544 | TTN | c.1427T>A (p.Val476Glu) c.215T>A (p.Val72Glu) c.1475T>A (p.Val492Glu) c.1472T>A (p.Val491Glu) c.1430T>A (p.Val477Glu) | |
| 2 | g.178793514C>A | CA349513557 | TTN | c.1426G>T (p.Val476Leu) c.214G>T (p.Val72Leu) c.1474G>T (p.Val492Leu) c.1471G>T (p.Val491Leu) c.1429G>T (p.Val477Leu) |