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 |
|---|---|---|---|---|---|
| 5 | g.177280640_177280641delinsAC | CA1603550330 | NSD1 | c.4825_4826delinsAC (p.Thr1609=) c.340_341delinsAC (p.Thr114=) n.5281_5282delinsAC n.447_448delinsAC c.5389_5390delinsAC (p.Thr1797=) n.5095_5096delinsAC n.5845_5846delinsAC n.2617_2618delinsAC c.5698_5699delinsAC (p.Thr1900=) c.4891_4892delinsAC (p.Thr1631=) c.1192_1193delinsAC (p.Thr398=) c.5278_5279delinsAC (p.Thr1760=) c.4642_4643delinsAC (p.Thr1548=) c.1432_1433delinsAC (p.Thr478=) | |
| 5 | g.177280641del | CA16618181 | NSD1 | c.4826del (p.Thr1609MetfsTer8) c.341del (p.Thr114MetfsTer8) n.5282del n.448del c.5390del (p.Thr1797MetfsTer8) n.5096del n.5846del n.2618del c.5699del (p.Thr1900MetfsTer8) c.4892del (p.Thr1631MetfsTer8) c.1193del (p.Thr398MetfsTer8) c.5279del (p.Thr1760MetfsTer8) c.4643del (p.Thr1548MetfsTer8) c.1433del (p.Thr478MetfsTer8) | ClinVar dbSNP |
| 5 | g.177280641C>A | CA362312525 | NSD1 | c.4826C>A (p.Thr1609Asn) c.341C>A (p.Thr114Asn) n.5282C>A n.448C>A c.5390C>A (p.Thr1797Asn) n.5096C>A n.5846C>A n.2618C>A c.5699C>A (p.Thr1900Asn) c.4892C>A (p.Thr1631Asn) c.1193C>A (p.Thr398Asn) c.5279C>A (p.Thr1760Asn) c.4643C>A (p.Thr1548Asn) c.1433C>A (p.Thr478Asn) | |
| 5 | g.177280641C>G | CA362312527 | NSD1 | c.4826C>G (p.Thr1609Ser) c.341C>G (p.Thr114Ser) n.5282C>G n.448C>G c.5390C>G (p.Thr1797Ser) n.5096C>G n.5846C>G n.2618C>G c.5699C>G (p.Thr1900Ser) c.4892C>G (p.Thr1631Ser) c.1193C>G (p.Thr398Ser) c.5279C>G (p.Thr1760Ser) c.4643C>G (p.Thr1548Ser) c.1433C>G (p.Thr478Ser) | |
| 5 | g.177280641C>T | CA362312531 | NSD1 | c.4826C>T (p.Thr1609Ile) c.341C>T (p.Thr114Ile) n.5282C>T n.448C>T c.5390C>T (p.Thr1797Ile) n.5096C>T n.5846C>T n.2618C>T c.5699C>T (p.Thr1900Ile) c.4892C>T (p.Thr1631Ile) c.1193C>T (p.Thr398Ile) c.5279C>T (p.Thr1760Ile) c.4643C>T (p.Thr1548Ile) c.1433C>T (p.Thr478Ile) | dbSNP |
| 5 | g.177280642T>A | CA447961333 | NSD1 | c.4827T>A (p.Thr1609=) c.342T>A (p.Thr114=) n.5283T>A n.449T>A c.5391T>A (p.Thr1797=) n.5097T>A n.5847T>A n.2619T>A c.5700T>A (p.Thr1900=) c.4893T>A (p.Thr1631=) c.1194T>A (p.Thr398=) c.5280T>A (p.Thr1760=) c.4644T>A (p.Thr1548=) c.1434T>A (p.Thr478=) | |
| 5 | g.177280642T>C | CA447961337 | NSD1 | c.4827T>C (p.Thr1609=) c.342T>C (p.Thr114=) n.5283T>C n.449T>C c.5391T>C (p.Thr1797=) n.5097T>C n.5847T>C n.2619T>C c.5700T>C (p.Thr1900=) c.4893T>C (p.Thr1631=) c.1194T>C (p.Thr398=) c.5280T>C (p.Thr1760=) c.4644T>C (p.Thr1548=) c.1434T>C (p.Thr478=) | |
| 5 | g.177280642T>G | CA447961342 | NSD1 | c.4827T>G (p.Thr1609=) c.342T>G (p.Thr114=) n.5283T>G n.449T>G c.5391T>G (p.Thr1797=) n.5097T>G n.5847T>G n.2619T>G c.5700T>G (p.Thr1900=) c.4893T>G (p.Thr1631=) c.1194T>G (p.Thr398=) c.5280T>G (p.Thr1760=) c.4644T>G (p.Thr1548=) c.1434T>G (p.Thr478=) | |
| 5 | g.177280643G>A | CA362312543 | NSD1 | c.4828G>A (p.Asp1610Asn) c.343G>A (p.Asp115Asn) n.5284G>A n.450G>A c.5392G>A (p.Asp1798Asn) n.5098G>A n.5848G>A n.2620G>A c.5701G>A (p.Asp1901Asn) c.4894G>A (p.Asp1632Asn) c.1195G>A (p.Asp399Asn) c.5281G>A (p.Asp1761Asn) c.4645G>A (p.Asp1549Asn) c.1435G>A (p.Asp479Asn) | |
| 5 | g.177280643G>C | CA362312540 | NSD1 | c.4828G>C (p.Asp1610His) c.343G>C (p.Asp115His) n.5284G>C n.450G>C c.5392G>C (p.Asp1798His) n.5098G>C n.5848G>C n.2620G>C c.5701G>C (p.Asp1901His) c.4894G>C (p.Asp1632His) c.1195G>C (p.Asp399His) c.5281G>C (p.Asp1761His) c.4645G>C (p.Asp1549His) c.1435G>C (p.Asp479His) | |
| 5 | g.177280643G>T | CA362312537 | NSD1 | c.4828G>T (p.Asp1610Tyr) c.343G>T (p.Asp115Tyr) n.5284G>T n.450G>T c.5392G>T (p.Asp1798Tyr) n.5098G>T n.5848G>T n.2620G>T c.5701G>T (p.Asp1901Tyr) c.4894G>T (p.Asp1632Tyr) c.1195G>T (p.Asp399Tyr) c.5281G>T (p.Asp1761Tyr) c.4645G>T (p.Asp1549Tyr) c.1435G>T (p.Asp479Tyr) | |
| 5 | g.177280644A>C | CA362312548 | NSD1 | c.4829A>C (p.Asp1610Ala) c.344A>C (p.Asp115Ala) n.5285A>C n.451A>C c.5393A>C (p.Asp1798Ala) n.5099A>C n.5849A>C n.2621A>C c.5702A>C (p.Asp1901Ala) c.4895A>C (p.Asp1632Ala) c.1196A>C (p.Asp399Ala) c.5282A>C (p.Asp1761Ala) c.4646A>C (p.Asp1549Ala) c.1436A>C (p.Asp479Ala) | |
| 5 | g.177280644A>G | CA362312553 | NSD1 | c.4829A>G (p.Asp1610Gly) c.344A>G (p.Asp115Gly) n.5285A>G n.451A>G c.5393A>G (p.Asp1798Gly) n.5099A>G n.5849A>G n.2621A>G c.5702A>G (p.Asp1901Gly) c.4895A>G (p.Asp1632Gly) c.1196A>G (p.Asp399Gly) c.5282A>G (p.Asp1761Gly) c.4646A>G (p.Asp1549Gly) c.1436A>G (p.Asp479Gly) | |
| 5 | g.177280644A>T | CA362312551 | NSD1 | c.4829A>T (p.Asp1610Val) c.344A>T (p.Asp115Val) n.5285A>T n.451A>T c.5393A>T (p.Asp1798Val) n.5099A>T n.5849A>T n.2621A>T c.5702A>T (p.Asp1901Val) c.4895A>T (p.Asp1632Val) c.1196A>T (p.Asp399Val) c.5282A>T (p.Asp1761Val) c.4646A>T (p.Asp1549Val) c.1436A>T (p.Asp479Val) | |
| 5 | g.177280645T>A | CA362312555 | NSD1 | c.4830T>A (p.Asp1610Glu) c.345T>A (p.Asp115Glu) n.5286T>A n.452T>A c.5394T>A (p.Asp1798Glu) n.5100T>A n.5850T>A n.2622T>A c.5703T>A (p.Asp1901Glu) c.4896T>A (p.Asp1632Glu) c.1197T>A (p.Asp399Glu) c.5283T>A (p.Asp1761Glu) c.4647T>A (p.Asp1549Glu) c.1437T>A (p.Asp479Glu) | |
| 5 | g.177280645T>C | CA447961346 | NSD1 | c.4830T>C (p.Asp1610=) c.345T>C (p.Asp115=) n.5286T>C n.452T>C c.5394T>C (p.Asp1798=) n.5100T>C n.5850T>C n.2622T>C c.5703T>C (p.Asp1901=) c.4896T>C (p.Asp1632=) c.1197T>C (p.Asp399=) c.5283T>C (p.Asp1761=) c.4647T>C (p.Asp1549=) c.1437T>C (p.Asp479=) | |
| 5 | g.177280645T>G | CA362312563 | NSD1 | c.4830T>G (p.Asp1610Glu) c.345T>G (p.Asp115Glu) n.5286T>G n.452T>G c.5394T>G (p.Asp1798Glu) n.5100T>G n.5850T>G n.2622T>G c.5703T>G (p.Asp1901Glu) c.4896T>G (p.Asp1632Glu) c.1197T>G (p.Asp399Glu) c.5283T>G (p.Asp1761Glu) c.4647T>G (p.Asp1549Glu) c.1437T>G (p.Asp479Glu) | |
| 5 | g.177280646G>A | CA362312567 | NSD1 | c.4831G>A (p.Glu1611Lys) c.346G>A (p.Glu116Lys) n.5287G>A n.453G>A c.5395G>A (p.Glu1799Lys) n.5101G>A n.5851G>A n.2623G>A c.5704G>A (p.Glu1902Lys) c.4897G>A (p.Glu1633Lys) c.1198G>A (p.Glu400Lys) c.5284G>A (p.Glu1762Lys) c.4648G>A (p.Glu1550Lys) c.1438G>A (p.Glu480Lys) | |
| 5 | g.177280646G>C | CA362312571 | NSD1 | c.4831G>C (p.Glu1611Gln) c.346G>C (p.Glu116Gln) n.5287G>C n.453G>C c.5395G>C (p.Glu1799Gln) n.5101G>C n.5851G>C n.2623G>C c.5704G>C (p.Glu1902Gln) c.4897G>C (p.Glu1633Gln) c.1198G>C (p.Glu400Gln) c.5284G>C (p.Glu1762Gln) c.4648G>C (p.Glu1550Gln) c.1438G>C (p.Glu480Gln) | |
| 5 | g.177280646G>T | CA362312574 | NSD1 | c.4831G>T (p.Glu1611Ter) c.346G>T (p.Glu116Ter) n.5287G>T n.453G>T c.5395G>T (p.Glu1799Ter) n.5101G>T n.5851G>T n.2623G>T c.5704G>T (p.Glu1902Ter) c.4897G>T (p.Glu1633Ter) c.1198G>T (p.Glu400Ter) c.5284G>T (p.Glu1762Ter) c.4648G>T (p.Glu1550Ter) c.1438G>T (p.Glu480Ter) | |
| 5 | g.177280647A>C | CA362312589 | NSD1 | c.4832A>C (p.Glu1611Ala) c.347A>C (p.Glu116Ala) n.5288A>C n.454A>C c.5396A>C (p.Glu1799Ala) n.5102A>C n.5852A>C n.2624A>C c.5705A>C (p.Glu1902Ala) c.4898A>C (p.Glu1633Ala) c.1199A>C (p.Glu400Ala) c.5285A>C (p.Glu1762Ala) c.4649A>C (p.Glu1550Ala) c.1439A>C (p.Glu480Ala) | |
| 5 | g.177280647A>G | CA362312592 | NSD1 | c.4832A>G (p.Glu1611Gly) c.347A>G (p.Glu116Gly) n.5288A>G n.454A>G c.5396A>G (p.Glu1799Gly) n.5102A>G n.5852A>G n.2624A>G c.5705A>G (p.Glu1902Gly) c.4898A>G (p.Glu1633Gly) c.1199A>G (p.Glu400Gly) c.5285A>G (p.Glu1762Gly) c.4649A>G (p.Glu1550Gly) c.1439A>G (p.Glu480Gly) | |
| 5 | g.177280647A>T | CA362312596 | NSD1 | c.4832A>T (p.Glu1611Val) c.347A>T (p.Glu116Val) n.5288A>T n.454A>T c.5396A>T (p.Glu1799Val) n.5102A>T n.5852A>T n.2624A>T c.5705A>T (p.Glu1902Val) c.4898A>T (p.Glu1633Val) c.1199A>T (p.Glu400Val) c.5285A>T (p.Glu1762Val) c.4649A>T (p.Glu1550Val) c.1439A>T (p.Glu480Val) | |
| 5 | g.177280648G>A | CA447961360 | NSD1 | c.4833G>A (p.Glu1611=) c.348G>A (p.Glu116=) n.5289G>A n.455G>A c.5397G>A (p.Glu1799=) n.5103G>A n.5853G>A n.2625G>A c.5706G>A (p.Glu1902=) c.4899G>A (p.Glu1633=) c.1200G>A (p.Glu400=) c.5286G>A (p.Glu1762=) c.4650G>A (p.Glu1550=) c.1440G>A (p.Glu480=) | |
| 5 | g.177280648G>C | CA362312601 | NSD1 | c.4833G>C (p.Glu1611Asp) c.348G>C (p.Glu116Asp) n.5289G>C n.455G>C c.5397G>C (p.Glu1799Asp) n.5103G>C n.5853G>C n.2625G>C c.5706G>C (p.Glu1902Asp) c.4899G>C (p.Glu1633Asp) c.1200G>C (p.Glu400Asp) c.5286G>C (p.Glu1762Asp) c.4650G>C (p.Glu1550Asp) c.1440G>C (p.Glu480Asp) | |
| 5 | g.177280648G>T | CA362312604 | NSD1 | c.4833G>T (p.Glu1611Asp) c.348G>T (p.Glu116Asp) n.5289G>T n.455G>T c.5397G>T (p.Glu1799Asp) n.5103G>T n.5853G>T n.2625G>T c.5706G>T (p.Glu1902Asp) c.4899G>T (p.Glu1633Asp) c.1200G>T (p.Glu400Asp) c.5286G>T (p.Glu1762Asp) c.4650G>T (p.Glu1550Asp) c.1440G>T (p.Glu480Asp) | |
| 5 | g.177280649A>C | CA362312609 | NSD1 | c.4834A>C (p.Asn1612His) c.349A>C (p.Asn117His) n.5290A>C n.456A>C c.5398A>C (p.Asn1800His) n.5104A>C n.5854A>C n.2626A>C c.5707A>C (p.Asn1903His) c.4900A>C (p.Asn1634His) c.1201A>C (p.Asn401His) c.5287A>C (p.Asn1763His) c.4651A>C (p.Asn1551His) c.1441A>C (p.Asn481His) | |
| 5 | g.177280649A>G | CA362312614 | NSD1 | c.4834A>G (p.Asn1612Asp) c.349A>G (p.Asn117Asp) n.5290A>G n.456A>G c.5398A>G (p.Asn1800Asp) n.5104A>G n.5854A>G n.2626A>G c.5707A>G (p.Asn1903Asp) c.4900A>G (p.Asn1634Asp) c.1201A>G (p.Asn401Asp) c.5287A>G (p.Asn1763Asp) c.4651A>G (p.Asn1551Asp) c.1441A>G (p.Asn481Asp) | |
| 5 | g.177280649A>T | CA362312618 | NSD1 | c.4834A>T (p.Asn1612Tyr) c.349A>T (p.Asn117Tyr) n.5290A>T n.456A>T c.5398A>T (p.Asn1800Tyr) n.5104A>T n.5854A>T n.2626A>T c.5707A>T (p.Asn1903Tyr) c.4900A>T (p.Asn1634Tyr) c.1201A>T (p.Asn401Tyr) c.5287A>T (p.Asn1763Tyr) c.4651A>T (p.Asn1551Tyr) c.1441A>T (p.Asn481Tyr) | |
| 5 | g.177280650A>C | CA362312623 | NSD1 | c.4835A>C (p.Asn1612Thr) c.350A>C (p.Asn117Thr) n.5291A>C n.457A>C c.5399A>C (p.Asn1800Thr) n.5105A>C n.5855A>C n.2627A>C c.5708A>C (p.Asn1903Thr) c.4901A>C (p.Asn1634Thr) c.1202A>C (p.Asn401Thr) c.5288A>C (p.Asn1763Thr) c.4652A>C (p.Asn1551Thr) c.1442A>C (p.Asn481Thr) | |
| 5 | g.177280650A>G | CA362312631 | NSD1 | c.4835A>G (p.Asn1612Ser) c.350A>G (p.Asn117Ser) n.5291A>G n.457A>G c.5399A>G (p.Asn1800Ser) n.5105A>G n.5855A>G n.2627A>G c.5708A>G (p.Asn1903Ser) c.4901A>G (p.Asn1634Ser) c.1202A>G (p.Asn401Ser) c.5288A>G (p.Asn1763Ser) c.4652A>G (p.Asn1551Ser) c.1442A>G (p.Asn481Ser) | gnomAD v4 |
| 5 | g.177280650A>T | CA362312628 | NSD1 | c.4835A>T (p.Asn1612Ile) c.350A>T (p.Asn117Ile) n.5291A>T n.457A>T c.5399A>T (p.Asn1800Ile) n.5105A>T n.5855A>T n.2627A>T c.5708A>T (p.Asn1903Ile) c.4901A>T (p.Asn1634Ile) c.1202A>T (p.Asn401Ile) c.5288A>T (p.Asn1763Ile) c.4652A>T (p.Asn1551Ile) c.1442A>T (p.Asn481Ile) | |
| 5 | g.177280650_177280651delinsAC | CA1603550337 | NSD1 | c.4835_4836delinsAC (p.Asn1612=) c.350_351delinsAC (p.Asn117=) n.5291_5292delinsAC n.457_458delinsAC c.5399_5400delinsAC (p.Asn1800=) n.5105_5106delinsAC n.5855_5856delinsAC n.2627_2628delinsAC c.5708_5709delinsAC (p.Asn1903=) c.4901_4902delinsAC (p.Asn1634=) c.1202_1203delinsAC (p.Asn401=) c.5288_5289delinsAC (p.Asn1763=) c.4652_4653delinsAC (p.Asn1551=) c.1442_1443delinsAC (p.Asn481=) | |
| 5 | g.177280651C>A | CA362312636 | NSD1 | c.4836C>A (p.Asn1612Lys) c.351C>A (p.Asn117Lys) n.5292C>A n.458C>A c.5400C>A (p.Asn1800Lys) n.5106C>A n.5856C>A n.2628C>A c.5709C>A (p.Asn1903Lys) c.4902C>A (p.Asn1634Lys) c.1203C>A (p.Asn401Lys) c.5289C>A (p.Asn1763Lys) c.4653C>A (p.Asn1551Lys) c.1443C>A (p.Asn481Lys) | gnomAD v4 |
| 5 | g.177280651C>G | CA362312641 | NSD1 | c.4836C>G (p.Asn1612Lys) c.351C>G (p.Asn117Lys) n.5292C>G n.458C>G c.5400C>G (p.Asn1800Lys) n.5106C>G n.5856C>G n.2628C>G c.5709C>G (p.Asn1903Lys) c.4902C>G (p.Asn1634Lys) c.1203C>G (p.Asn401Lys) c.5289C>G (p.Asn1763Lys) c.4653C>G (p.Asn1551Lys) c.1443C>G (p.Asn481Lys) | gnomAD v4 |
| 5 | g.177280651C>T | CA447961373 | NSD1 | c.4836C>T (p.Asn1612=) c.351C>T (p.Asn117=) n.5292C>T n.458C>T c.5400C>T (p.Asn1800=) n.5106C>T n.5856C>T n.2628C>T c.5709C>T (p.Asn1903=) c.4902C>T (p.Asn1634=) c.1203C>T (p.Asn401=) c.5289C>T (p.Asn1763=) c.4653C>T (p.Asn1551=) c.1443C>T (p.Asn481=) | dbSNP |
| 5 | g.177280654del | CA294973 | NSD1 | c.4839del (p.Cys1614ValfsTer3) c.354del (p.Cys119ValfsTer3) n.5295del n.461del c.5403del (p.Cys1802ValfsTer3) n.5109del n.5859del n.2631del c.5712del (p.Cys1905ValfsTer3) c.4905del (p.Cys1636ValfsTer3) c.1206del (p.Cys403ValfsTer3) c.5292del (p.Cys1765ValfsTer3) c.4656del (p.Cys1553ValfsTer3) c.1446del (p.Cys483ValfsTer3) | ClinVar dbSNP |
| 5 | g.177280652C>A | CA362312649 | NSD1 | c.4837C>A (p.Pro1613Thr) c.352C>A (p.Pro118Thr) n.5293C>A n.459C>A c.5401C>A (p.Pro1801Thr) n.5107C>A n.5857C>A n.2629C>A c.5710C>A (p.Pro1904Thr) c.4903C>A (p.Pro1635Thr) c.1204C>A (p.Pro402Thr) c.5290C>A (p.Pro1764Thr) c.4654C>A (p.Pro1552Thr) c.1444C>A (p.Pro482Thr) | ClinVar |
| 5 | g.177280652C>G | CA362312656 | NSD1 | c.4837C>G (p.Pro1613Ala) c.352C>G (p.Pro118Ala) n.5293C>G n.459C>G c.5401C>G (p.Pro1801Ala) n.5107C>G n.5857C>G n.2629C>G c.5710C>G (p.Pro1904Ala) c.4903C>G (p.Pro1635Ala) c.1204C>G (p.Pro402Ala) c.5290C>G (p.Pro1764Ala) c.4654C>G (p.Pro1552Ala) c.1444C>G (p.Pro482Ala) | |
| 5 | g.177280652C>T | CA362312658 | NSD1 | c.4837C>T (p.Pro1613Ser) c.352C>T (p.Pro118Ser) n.5293C>T n.459C>T c.5401C>T (p.Pro1801Ser) n.5107C>T n.5857C>T n.2629C>T c.5710C>T (p.Pro1904Ser) c.4903C>T (p.Pro1635Ser) c.1204C>T (p.Pro402Ser) c.5290C>T (p.Pro1764Ser) c.4654C>T (p.Pro1552Ser) c.1444C>T (p.Pro482Ser) | ClinVar |
| 5 | g.177280653C>A | CA362312663 | NSD1 | c.4838C>A (p.Pro1613His) c.353C>A (p.Pro118His) n.5294C>A n.460C>A c.5402C>A (p.Pro1801His) n.5108C>A n.5858C>A n.2630C>A c.5711C>A (p.Pro1904His) c.4904C>A (p.Pro1635His) c.1205C>A (p.Pro402His) c.5291C>A (p.Pro1764His) c.4655C>A (p.Pro1552His) c.1445C>A (p.Pro482His) | dbSNP |
| 5 | g.177280653C>G | CA362312667 | NSD1 | c.4838C>G (p.Pro1613Arg) c.353C>G (p.Pro118Arg) n.5294C>G n.460C>G c.5402C>G (p.Pro1801Arg) n.5108C>G n.5858C>G n.2630C>G c.5711C>G (p.Pro1904Arg) c.4904C>G (p.Pro1635Arg) c.1205C>G (p.Pro402Arg) c.5291C>G (p.Pro1764Arg) c.4655C>G (p.Pro1552Arg) c.1445C>G (p.Pro482Arg) | |
| 5 | g.177280653C>T | CA362312669 | NSD1 | c.4838C>T (p.Pro1613Leu) c.353C>T (p.Pro118Leu) n.5294C>T n.460C>T c.5402C>T (p.Pro1801Leu) n.5108C>T n.5858C>T n.2630C>T c.5711C>T (p.Pro1904Leu) c.4904C>T (p.Pro1635Leu) c.1205C>T (p.Pro402Leu) c.5291C>T (p.Pro1764Leu) c.4655C>T (p.Pro1552Leu) c.1445C>T (p.Pro482Leu) | |
| 5 | g.177280654C>A | CA447961376 | NSD1 | c.4839C>A (p.Pro1613=) c.354C>A (p.Pro118=) n.5295C>A n.461C>A c.5403C>A (p.Pro1801=) n.5109C>A n.5859C>A n.2631C>A c.5712C>A (p.Pro1904=) c.4905C>A (p.Pro1635=) c.1206C>A (p.Pro402=) c.5292C>A (p.Pro1764=) c.4656C>A (p.Pro1552=) c.1446C>A (p.Pro482=) | |
| 5 | g.177280654C= | CA1603550346 | NSD1 | c.4839C= (p.Pro1613=) c.354C= (p.Pro118=) n.5295C= n.461C= c.5403C= (p.Pro1801=) n.5109C= n.5859C= n.2631C= c.5712C= (p.Pro1904=) c.4905C= (p.Pro1635=) c.1206C= (p.Pro402=) c.5292C= (p.Pro1764=) c.4656C= (p.Pro1552=) c.1446C= (p.Pro482=) | |
| 5 | g.177280654C>G | CA447961377 | NSD1 | c.4839C>G (p.Pro1613=) c.354C>G (p.Pro118=) n.5295C>G n.461C>G c.5403C>G (p.Pro1801=) n.5109C>G n.5859C>G n.2631C>G c.5712C>G (p.Pro1904=) c.4905C>G (p.Pro1635=) c.1206C>G (p.Pro402=) c.5292C>G (p.Pro1764=) c.4656C>G (p.Pro1552=) c.1446C>G (p.Pro482=) | |
| 5 | g.177280654C>T | CA3577889 | NSD1 | c.4839C>T (p.Pro1613=) c.354C>T (p.Pro118=) n.5295C>T n.461C>T c.5403C>T (p.Pro1801=) n.5109C>T n.5859C>T n.2631C>T c.5712C>T (p.Pro1904=) c.4905C>T (p.Pro1635=) c.1206C>T (p.Pro402=) c.5292C>T (p.Pro1764=) c.4656C>T (p.Pro1552=) c.1446C>T (p.Pro482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177280655T>A | CA362312687 | NSD1 | c.4840T>A (p.Cys1614Ser) c.355T>A (p.Cys119Ser) n.5296T>A n.462T>A c.5404T>A (p.Cys1802Ser) n.5110T>A n.5860T>A n.2632T>A c.5713T>A (p.Cys1905Ser) c.4906T>A (p.Cys1636Ser) c.1207T>A (p.Cys403Ser) c.5293T>A (p.Cys1765Ser) c.4657T>A (p.Cys1553Ser) c.1447T>A (p.Cys483Ser) | |
| 5 | g.177280655T>C | CA362312681 | NSD1 | c.4840T>C (p.Cys1614Arg) c.355T>C (p.Cys119Arg) n.5296T>C n.462T>C c.5404T>C (p.Cys1802Arg) n.5110T>C n.5860T>C n.2632T>C c.5713T>C (p.Cys1905Arg) c.4906T>C (p.Cys1636Arg) c.1207T>C (p.Cys403Arg) c.5293T>C (p.Cys1765Arg) c.4657T>C (p.Cys1553Arg) c.1447T>C (p.Cys483Arg) | |
| 5 | g.177280655T>G | CA362312678 | NSD1 | c.4840T>G (p.Cys1614Gly) c.355T>G (p.Cys119Gly) n.5296T>G n.462T>G c.5404T>G (p.Cys1802Gly) n.5110T>G n.5860T>G n.2632T>G c.5713T>G (p.Cys1905Gly) c.4906T>G (p.Cys1636Gly) c.1207T>G (p.Cys403Gly) c.5293T>G (p.Cys1765Gly) c.4657T>G (p.Cys1553Gly) c.1447T>G (p.Cys483Gly) |