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 |
|---|---|---|---|---|---|
| 19 | g.7267576G>A | CA403159519 | INSR | c.421C>T (p.Arg141Trp) n.396C>T c.499C>T (p.Arg167Trp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7267576G>C | CA403159518 | INSR | c.421C>G (p.Arg141Gly) n.396C>G c.499C>G (p.Arg167Gly) | |
| 19 | g.7267576G= | CA2320836467 | INSR | c.421C= (p.Arg141=) n.396C= c.499C= (p.Arg167=) | |
| 19 | g.7267576G>T | CA505481847 | INSR | c.421C>A (p.Arg141=) n.396C>A c.499C>A (p.Arg167=) | |
| 19 | g.7267577G>A | CA505481848 | INSR | c.420C>T (p.Thr140=) n.395C>T c.498C>T (p.Thr166=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267577G>C | CA505481849 | INSR | c.420C>G (p.Thr140=) n.395C>G c.498C>G (p.Thr166=) | |
| 19 | g.7267577G= | CA2320836468 | INSR | c.420C= (p.Thr140=) n.395C= c.498C= (p.Thr166=) | |
| 19 | g.7267577G>T | CA505481850 | INSR | c.420C>A (p.Thr140=) n.395C>A c.498C>A (p.Thr166=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267578G>A | CA403159520 | INSR | c.419C>T (p.Thr140Ile) n.394C>T c.497C>T (p.Thr166Ile) | |
| 19 | g.7267578G>C | CA403159521 | INSR | c.419C>G (p.Thr140Ser) n.394C>G c.497C>G (p.Thr166Ser) | |
| 19 | g.7267578G>T | CA403159522 | INSR | c.419C>A (p.Thr140Asn) n.394C>A c.497C>A (p.Thr166Asn) | |
| 19 | g.7267579T>A | CA403159523 | INSR | c.418A>T (p.Thr140Ser) n.393A>T c.496A>T (p.Thr166Ser) | |
| 19 | g.7267579T>C | CA403159524 | INSR | c.418A>G (p.Thr140Ala) n.393A>G c.496A>G (p.Thr166Ala) | |
| 19 | g.7267579T>G | CA403159525 | INSR | c.418A>C (p.Thr140Pro) n.393A>C c.496A>C (p.Thr166Pro) | |
| 19 | g.7267580G>A | CA9136124 | INSR | c.417C>T (p.Ile139=) n.392C>T c.495C>T (p.Ile165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267580G>C | CA403159526 | INSR | c.417C>G (p.Ile139Met) n.392C>G c.495C>G (p.Ile165Met) | |
| 19 | g.7267580G= | CA2320836469 | INSR | c.417C= (p.Ile139=) n.392C= c.495C= (p.Ile165=) | |
| 19 | g.7267580G>T | CA505481851 | INSR | c.417C>A (p.Ile139=) n.392C>A c.495C>A (p.Ile165=) | dbSNP gnomAD v4 |
| 19 | g.7267581A>C | CA403159527 | INSR | c.416T>G (p.Ile139Ser) n.391T>G c.494T>G (p.Ile165Ser) | |
| 19 | g.7267581A>G | CA403159528 | INSR | c.416T>C (p.Ile139Thr) n.391T>C c.494T>C (p.Ile165Thr) | |
| 19 | g.7267581A>T | CA403159529 | INSR | c.416T>A (p.Ile139Asn) n.391T>A c.494T>A (p.Ile165Asn) | |
| 19 | g.7267582T>A | CA403159530 | INSR | c.415A>T (p.Ile139Phe) n.390A>T c.493A>T (p.Ile165Phe) | |
| 19 | g.7267582T>C | CA403159531 | INSR | c.415A>G (p.Ile139Val) n.390A>G c.493A>G (p.Ile165Val) | dbSNP gnomAD v4 |
| 19 | g.7267582T>G | CA403159532 | INSR | c.415A>C (p.Ile139Leu) n.390A>C c.493A>C (p.Ile165Leu) | |
| 19 | g.7267582T= | CA2320836470 | INSR | c.415A= (p.Ile139=) n.390A= c.493A= (p.Ile165=) | |
| 19 | g.7267583G>A | CA505481852 | INSR | c.414C>T (p.Asn138=) n.389C>T c.492C>T (p.Asn164=) | |
| 19 | g.7267583G>C | CA403159534 | INSR | c.414C>G (p.Asn138Lys) n.389C>G c.492C>G (p.Asn164Lys) | |
| 19 | g.7267583G>T | CA403159533 | INSR | c.414C>A (p.Asn138Lys) n.389C>A c.492C>A (p.Asn164Lys) | |
| 19 | g.7267583_7267584delinsGT | CA2320836471 | INSR | c.413_414delinsAC (p.Asn138=) n.388_389delinsAC c.491_492delinsAC (p.Asn164=) | |
| 19 | g.7267584T>A | CA403159535 | INSR | c.413A>T (p.Asn138Ile) n.388A>T c.491A>T (p.Asn164Ile) | |
| 19 | g.7267584T>C | CA403159536 | INSR | c.413A>G (p.Asn138Ser) n.388A>G c.491A>G (p.Asn164Ser) | gnomAD v4 |
| 19 | g.7267584T>G | CA403159537 | INSR | c.413A>C (p.Asn138Thr) n.388A>C c.491A>C (p.Asn164Thr) | |
| 19 | g.7267585del | CA304647929 | INSR | c.413del (p.Asn138ThrfsTer?) n.388del c.491del (p.Asn164ThrfsTer?) | dbSNP |
| 19 | g.7267585T>A | CA403159538 | INSR | c.412A>T (p.Asn138Tyr) n.387A>T c.490A>T (p.Asn164Tyr) | |
| 19 | g.7267585T>C | CA403159539 | INSR | c.412A>G (p.Asn138Asp) n.387A>G c.490A>G (p.Asn164Asp) | |
| 19 | g.7267585T>G | CA403159540 | INSR | c.412A>C (p.Asn138His) n.387A>C c.490A>C (p.Asn164His) | |
| 19 | g.7267586C>A | CA403159541 | INSR | c.411G>T (p.Met137Ile) n.386G>T c.489G>T (p.Met163Ile) | |
| 19 | g.7267586C>G | CA403159542 | INSR | c.411G>C (p.Met137Ile) n.386G>C c.489G>C (p.Met163Ile) | |
| 19 | g.7267586C>T | CA403159543 | INSR | c.411G>A (p.Met137Ile) n.386G>A c.489G>A (p.Met163Ile) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7267587A>C | CA403159544 | INSR | c.410T>G (p.Met137Arg) n.385T>G c.488T>G (p.Met163Arg) | |
| 19 | g.7267587A>G | CA403159545 | INSR | c.410T>C (p.Met137Thr) n.385T>C c.488T>C (p.Met163Thr) | |
| 19 | g.7267587A>T | CA403159546 | INSR | c.410T>A (p.Met137Lys) n.385T>A c.488T>A (p.Met163Lys) | |
| 19 | g.7267588T>A | CA403159547 | INSR | c.409A>T (p.Met137Leu) n.384A>T c.487A>T (p.Met163Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267588T>C | CA9136125 | INSR | c.409A>G (p.Met137Val) n.384A>G c.487A>G (p.Met163Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267588T>G | CA403159548 | INSR | c.409A>C (p.Met137Leu) n.384A>C c.487A>C (p.Met163Leu) | |
| 19 | g.7267588T= | CA2320836472 | INSR | c.409A= (p.Met137=) n.384A= c.487A= (p.Met163=) | |
| 19 | g.7267589C>A | CA505481853 | INSR | c.408G>T (p.Leu136=) n.383G>T c.486G>T (p.Leu162=) | |
| 19 | g.7267589C= | CA2320836473 | INSR | c.408G= (p.Leu136=) n.383G= c.486G= (p.Leu162=) | |
| 19 | g.7267589C>G | CA505481854 | INSR | c.408G>C (p.Leu136=) n.383G>C c.486G>C (p.Leu162=) | |
| 19 | g.7267589C>T | CA505481855 | INSR | c.408G>A (p.Leu136=) n.383G>A c.486G>A (p.Leu162=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7267590A= | CA2320836474 | INSR | c.407T= (p.Leu136=) n.382T= c.485T= (p.Leu162=) | |
| 19 | g.7267590A>C | CA9136126 | INSR | c.407T>G (p.Leu136Arg) n.382T>G c.485T>G (p.Leu162Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267590A>G | CA403159550 | INSR | c.407T>C (p.Leu136Pro) n.382T>C c.485T>C (p.Leu162Pro) | |
| 19 | g.7267590A>T | CA403159549 | INSR | c.407T>A (p.Leu136Gln) n.382T>A c.485T>A (p.Leu162Gln) | |
| 19 | g.7267591G>A | CA505481856 | INSR | c.406C>T (p.Leu136=) n.381C>T c.484C>T (p.Leu162=) | |
| 19 | g.7267591G>C | CA403159551 | INSR | c.406C>G (p.Leu136Val) n.381C>G c.484C>G (p.Leu162Val) | |
| 19 | g.7267591G>T | CA403159552 | INSR | c.406C>A (p.Leu136Met) n.381C>A c.484C>A (p.Leu162Met) | |
| 19 | g.7267592G>A | CA505481857 | INSR | c.405C>T (p.Asn135=) n.380C>T c.483C>T (p.Asn161=) | |
| 19 | g.7267592G>C | CA403159553 | INSR | c.405C>G (p.Asn135Lys) n.380C>G c.483C>G (p.Asn161Lys) | |
| 19 | g.7267592G>T | CA403159554 | INSR | c.405C>A (p.Asn135Lys) n.380C>A c.483C>A (p.Asn161Lys) | |
| 19 | g.7267593T>A | CA403159555 | INSR | c.404A>T (p.Asn135Ile) n.379A>T c.482A>T (p.Asn161Ile) | |
| 19 | g.7267593T>C | CA403159556 | INSR | c.404A>G (p.Asn135Ser) n.379A>G c.482A>G (p.Asn161Ser) | |
| 19 | g.7267593T>G | CA403159557 | INSR | c.404A>C (p.Asn135Thr) n.379A>C c.482A>C (p.Asn161Thr) | |
| 19 | g.7267594del | CA2587926377 | INSR | c.404del (p.Asn135ThrfsTer2) n.379del c.482del (p.Asn161ThrfsTer2) | gnomAD v4 |
| 19 | g.7267594T>A | CA403159558 | INSR | c.403A>T (p.Asn135Tyr) n.378A>T c.481A>T (p.Asn161Tyr) | |
| 19 | g.7267594T>C | CA403159559 | INSR | c.403A>G (p.Asn135Asp) n.378A>G c.481A>G (p.Asn161Asp) | |
| 19 | g.7267594T>G | CA403159560 | INSR | c.403A>C (p.Asn135His) n.378A>C c.481A>C (p.Asn161His) | |
| 19 | g.7267595G>A | CA9136127 | INSR | c.402C>T (p.Tyr134=) n.377C>T c.480C>T (p.Tyr160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267595G>C | CA403159562 | INSR | c.402C>G (p.Tyr134Ter) n.377C>G c.480C>G (p.Tyr160Ter) | |
| 19 | g.7267595G= | CA2320836475 | INSR | c.402C= (p.Tyr134=) n.377C= c.480C= (p.Tyr160=) | |
| 19 | g.7267595G>T | CA403159561 | INSR | c.402C>A (p.Tyr134Ter) n.377C>A c.480C>A (p.Tyr160Ter) | |
| 19 | g.7267596T>A | CA403159563 | INSR | c.401A>T (p.Tyr134Phe) n.376A>T c.479A>T (p.Tyr160Phe) | |
| 19 | g.7267596T>C | CA403159564 | INSR | c.401A>G (p.Tyr134Cys) n.376A>G c.479A>G (p.Tyr160Cys) | |
| 19 | g.7267596T>G | CA403159565 | INSR | c.401A>C (p.Tyr134Ser) n.376A>C c.479A>C (p.Tyr160Ser) | |
| 19 | g.7267597A>C | CA403159566 | INSR | c.400T>G (p.Tyr134Asp) n.375T>G c.478T>G (p.Tyr160Asp) | |
| 19 | g.7267597A>G | CA403159567 | INSR | c.400T>C (p.Tyr134His) n.375T>C c.478T>C (p.Tyr160His) | gnomAD v4 |
| 19 | g.7267597A>T | CA403159568 | INSR | c.400T>A (p.Tyr134Asn) n.375T>A c.478T>A (p.Tyr160Asn) | |
| 19 | g.7267598G>A | CA505481858 | INSR | c.399C>T (p.Leu133=) n.374C>T c.477C>T (p.Leu159=) | |
| 19 | g.7267598G>C | CA505481859 | INSR | c.399C>G (p.Leu133=) n.374C>G c.477C>G (p.Leu159=) | |
| 19 | g.7267598G>T | CA505481860 | INSR | c.399C>A (p.Leu133=) n.374C>A c.477C>A (p.Leu159=) | |
| 19 | g.7267599A>C | CA403159569 | INSR | c.398T>G (p.Leu133Arg) n.373T>G c.476T>G (p.Leu159Arg) | |
| 19 | g.7267599A>G | CA403159570 | INSR | c.398T>C (p.Leu133Pro) n.373T>C c.476T>C (p.Leu159Pro) | |
| 19 | g.7267599A>T | CA403159571 | INSR | c.398T>A (p.Leu133His) n.373T>A c.476T>A (p.Leu159His) | |
| 19 | g.7267600G>A | CA403159572 | INSR | c.397C>T (p.Leu133Phe) n.372C>T c.475C>T (p.Leu159Phe) | dbSNP gnomAD v2 |
| 19 | g.7267600G>C | CA403159573 | INSR | c.397C>G (p.Leu133Val) n.372C>G c.475C>G (p.Leu159Val) | |
| 19 | g.7267600G= | CA2320836476 | INSR | c.397C= (p.Leu133=) n.372C= c.475C= (p.Leu159=) | |
| 19 | g.7267600G>T | CA403159574 | INSR | c.397C>A (p.Leu133Ile) n.372C>A c.475C>A (p.Leu159Ile) | |
| 19 | g.7267601G>A | CA9136128 | INSR | c.396C>T (p.Gly132=) n.371C>T c.474C>T (p.Gly158=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267601G>C | CA505481862 | INSR | c.396C>G (p.Gly132=) n.371C>G c.474C>G (p.Gly158=) | |
| 19 | g.7267601G= | CA2320836477 | INSR | c.396C= (p.Gly132=) n.371C= c.474C= (p.Gly158=) | |
| 19 | g.7267601G>T | CA505481861 | INSR | c.396C>A (p.Gly132=) n.371C>A c.474C>A (p.Gly158=) | |
| 19 | g.7267602C>A | CA403159577 | INSR | c.395G>T (p.Gly132Val) n.370G>T c.473G>T (p.Gly158Val) | |
| 19 | g.7267602C>G | CA403159575 | INSR | c.395G>C (p.Gly132Ala) n.370G>C c.473G>C (p.Gly158Ala) | |
| 19 | g.7267602C>T | CA403159576 | INSR | c.395G>A (p.Gly132Asp) n.370G>A c.473G>A (p.Gly158Asp) | gnomAD v4 |
| 19 | g.7267603C>A | CA403159578 | INSR | c.394G>T (p.Gly132Cys) n.369G>T c.472G>T (p.Gly158Cys) | |
| 19 | g.7267603C= | CA2320836478 | INSR | c.394G= (p.Gly132=) n.369G= c.472G= (p.Gly158=) | |
| 19 | g.7267603C>G | CA403159579 | INSR | c.394G>C (p.Gly132Arg) n.369G>C c.472G>C (p.Gly158Arg) | gnomAD v4 |
| 19 | g.7267603C>T | CA10575769 | INSR | c.394G>A (p.Gly132Ser) n.369G>A c.472G>A (p.Gly158Ser) | ClinVar dbSNP |
| 19 | g.7267604G>A | CA9136129 | INSR | c.393C>T (p.Leu131=) n.368C>T c.471C>T (p.Leu157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267604G>C | CA505481863 | INSR | c.393C>G (p.Leu131=) n.368C>G c.471C>G (p.Leu157=) | |
| 19 | g.7267604G= | CA2320836479 | INSR | c.393C= (p.Leu131=) n.368C= c.471C= (p.Leu157=) | |
| 19 | g.7267604G>T | CA505481864 | INSR | c.393C>A (p.Leu131=) n.368C>A c.471C>A (p.Leu157=) | |
| 19 | g.7267605A>C | CA403159580 | INSR | c.392T>G (p.Leu131Arg) n.367T>G c.470T>G (p.Leu157Arg) | gnomAD v4 |
| 19 | g.7267605A>G | CA403159581 | INSR | c.392T>C (p.Leu131Pro) n.367T>C c.470T>C (p.Leu157Pro) | |
| 19 | g.7267605A>T | CA403159582 | INSR | c.392T>A (p.Leu131His) n.367T>A c.470T>A (p.Leu157His) | gnomAD v4 |
| 19 | g.7267606G>A | CA403159583 | INSR | c.391C>T (p.Leu131Phe) n.366C>T c.469C>T (p.Leu157Phe) | gnomAD v4 |
| 19 | g.7267606G>C | CA403159584 | INSR | c.391C>G (p.Leu131Val) n.366C>G c.469C>G (p.Leu157Val) | |
| 19 | g.7267606G>T | CA403159585 | INSR | c.391C>A (p.Leu131Ile) n.366C>A c.469C>A (p.Leu157Ile) | |
| 19 | g.7267607T>A | CA403159586 | INSR | c.390A>T (p.Glu130Asp) n.365A>T c.468A>T (p.Glu156Asp) | |
| 19 | g.7267607T>C | CA505481865 | INSR | c.390A>G (p.Glu130=) n.365A>G c.468A>G (p.Glu156=) | |
| 19 | g.7267607T>G | CA403159587 | INSR | c.390A>C (p.Glu130Asp) n.365A>C c.468A>C (p.Glu156Asp) | |
| 19 | g.7267608T>A | CA403159590 | INSR | c.389A>T (p.Glu130Val) n.364A>T c.467A>T (p.Glu156Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267608T>C | CA403159589 | INSR | c.389A>G (p.Glu130Gly) n.364A>G c.467A>G (p.Glu156Gly) | |
| 19 | g.7267608T>G | CA403159588 | INSR | c.389A>C (p.Glu130Ala) n.364A>C c.467A>C (p.Glu156Ala) | |
| 19 | g.7267608T= | CA2320836480 | INSR | c.389A= (p.Glu130=) n.364A= c.467A= (p.Glu156=) | |
| 19 | g.7267609C>A | CA403159591 | INSR | c.388G>T (p.Glu130Ter) n.363G>T c.466G>T (p.Glu156Ter) | |
| 19 | g.7267609C>G | CA403159593 | INSR | c.388G>C (p.Glu130Gln) n.363G>C c.466G>C (p.Glu156Gln) | |
| 19 | g.7267609C>T | CA403159592 | INSR | c.388G>A (p.Glu130Lys) n.363G>A c.466G>A (p.Glu156Lys) | |
| 19 | g.7267610C>A | CA403159594 | INSR | c.387G>T (p.Lys129Asn) n.362G>T c.465G>T (p.Lys155Asn) | |
| 19 | g.7267610C>G | CA403159595 | INSR | c.387G>C (p.Lys129Asn) n.362G>C c.465G>C (p.Lys155Asn) | |
| 19 | g.7267610C>T | CA505481866 | INSR | c.387G>A (p.Lys129=) n.362G>A c.465G>A (p.Lys155=) | |
| 19 | g.7267611T>A | CA403159596 | INSR | c.386A>T (p.Lys129Met) n.361A>T c.464A>T (p.Lys155Met) | |
| 19 | g.7267611T>C | CA403159597 | INSR | c.386A>G (p.Lys129Arg) n.361A>G c.464A>G (p.Lys155Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267611T>G | CA403159598 | INSR | c.386A>C (p.Lys129Thr) n.361A>C c.464A>C (p.Lys155Thr) | |
| 19 | g.7267611T= | CA2320836481 | INSR | c.386A= (p.Lys129=) n.361A= c.464A= (p.Lys155=) | |
| 19 | g.7267612T>A | CA403159599 | INSR | c.385A>T (p.Lys129Ter) n.360A>T c.463A>T (p.Lys155Ter) | dbSNP |
| 19 | g.7267612T>C | CA403159600 | INSR | c.385A>G (p.Lys129Glu) n.360A>G c.463A>G (p.Lys155Glu) | |
| 19 | g.7267612T>G | CA403159601 | INSR | c.385A>C (p.Lys129Gln) n.360A>C c.463A>C (p.Lys155Gln) | |
| 19 | g.7267612T= | CA2320836482 | INSR | c.385A= (p.Lys129=) n.360A= c.463A= (p.Lys155=) | |
| 19 | g.7267613G>A | CA505481869 | INSR | c.384C>T (p.Leu128=) n.359C>T c.462C>T (p.Leu154=) | |
| 19 | g.7267613G>C | CA505481868 | INSR | c.384C>G (p.Leu128=) n.359C>G c.462C>G (p.Leu154=) | |
| 19 | g.7267613G>T | CA505481867 | INSR | c.384C>A (p.Leu128=) n.359C>A c.462C>A (p.Leu154=) | |
| 19 | g.7267614A>C | CA403159602 | INSR | c.383T>G (p.Leu128Arg) n.358T>G c.461T>G (p.Leu154Arg) | |
| 19 | g.7267614A>G | CA403159603 | INSR | c.383T>C (p.Leu128Pro) n.358T>C c.461T>C (p.Leu154Pro) | |
| 19 | g.7267614A>T | CA403159604 | INSR | c.383T>A (p.Leu128His) n.358T>A c.461T>A (p.Leu154His) | |
| 19 | g.7267615G>A | CA403159605 | INSR | c.382C>T (p.Leu128Phe) n.357C>T c.460C>T (p.Leu154Phe) | |
| 19 | g.7267615G>C | CA403159606 | INSR | c.382C>G (p.Leu128Val) n.357C>G c.460C>G (p.Leu154Val) | gnomAD v4 |
| 19 | g.7267615G>T | CA403159607 | INSR | c.382C>A (p.Leu128Ile) n.357C>A c.460C>A (p.Leu154Ile) | |
| 19 | g.7267616G>A | CA9136130 | INSR | c.381C>T (p.His127=) n.356C>T c.459C>T (p.His153=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.7267616G>C | CA403159608 | INSR | c.381C>G (p.His127Gln) n.356C>G c.459C>G (p.His153Gln) | gnomAD v4 |
| 19 | g.7267616G= | CA2320836483 | INSR | c.381C= (p.His127=) n.356C= c.459C= (p.His153=) | |
| 19 | g.7267616G>T | CA403159609 | INSR | c.381C>A (p.His127Gln) n.356C>A c.459C>A (p.His153Gln) | |
| 19 | g.7267617T>A | CA403159610 | INSR | c.380A>T (p.His127Leu) n.355A>T c.458A>T (p.His153Leu) | |
| 19 | g.7267617T>C | CA403159611 | INSR | c.380A>G (p.His127Arg) n.355A>G c.458A>G (p.His153Arg) | |
| 19 | g.7267617T>G | CA403159612 | INSR | c.380A>C (p.His127Pro) n.355A>C c.458A>C (p.His153Pro) | |
| 19 | g.7267618G>A | CA403159613 | INSR | c.379C>T (p.His127Tyr) n.354C>T c.457C>T (p.His153Tyr) | |
| 19 | g.7267618G>C | CA403159614 | INSR | c.379C>G (p.His127Asp) n.354C>G c.457C>G (p.His153Asp) | |
| 19 | g.7267618G>T | CA403159615 | INSR | c.379C>A (p.His127Asn) n.354C>A c.457C>A (p.His153Asn) | |
| 19 | g.7267619A= | CA2320836484 | INSR | c.378T= (p.Val126=) n.353T= c.456T= (p.Val152=) | |
| 19 | g.7267619A>C | CA505481870 | INSR | c.378T>G (p.Val126=) n.353T>G c.456T>G (p.Val152=) | |
| 19 | g.7267619A>G | CA505481871 | INSR | c.378T>C (p.Val126=) n.353T>C c.456T>C (p.Val152=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267619A>T | CA505481872 | INSR | c.378T>A (p.Val126=) n.353T>A c.456T>A (p.Val152=) | |
| 19 | g.7267619_7267620insTT | CA2587926396 | INSR | c.377_378insAA (p.His127IlefsTer11) n.352_353insAA c.455_456insAA (p.His153IlefsTer11) | gnomAD v4 |
| 19 | g.7267619_7267620insTTACAAAAATTAGCTGGGCGGGGTGGCGCATGCCTGTAATCCCAGCTGCTACGGAGGCTGAGGCAGGAGAATGGCTTGAACCT | CA2813467008 | INSR | c.377_378insAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGTAGCAGCTGGGATTACAGGCATGCGCCACCCCGCCCAGCTAATTTTTGTAA (p.His127GlyfsTer38) n.352_353insAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGTAGCAGCTGGGATTACAGGCATGCGCCACCCCGCCCAGCTAATTTTTGTAA c.455_456insAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGTAGCAGCTGGGATTACAGGCATGCGCCACCCCGCCCAGCTAATTTTTGTAA (p.His153GlyfsTer38) | |
| 19 | g.7267620A>C | CA403159616 | INSR | c.377T>G (p.Val126Gly) n.352T>G c.455T>G (p.Val152Gly) | |
| 19 | g.7267620A>G | CA403159617 | INSR | c.377T>C (p.Val126Ala) n.352T>C c.455T>C (p.Val152Ala) | |
| 19 | g.7267620A>T | CA403159618 | INSR | c.377T>A (p.Val126Asp) n.352T>A c.455T>A (p.Val152Asp) | |
| 19 | g.7267621C>A | CA403159619 | INSR | c.376G>T (p.Val126Phe) n.351G>T c.454G>T (p.Val152Phe) | |
| 19 | g.7267621C>G | CA403159620 | INSR | c.376G>C (p.Val126Leu) n.351G>C c.454G>C (p.Val152Leu) | |
| 19 | g.7267621C>T | CA403159621 | INSR | c.376G>A (p.Val126Ile) n.351G>A c.454G>A (p.Val152Ile) | |
| 19 | g.7267621_7267622insAAAAATTAGCTGGGCGGGGTGGCGCATGCCTGTAATCCCAGCTGCTACGGAGGCTGAGGCAGGAGAATGGCTTGAACCTAGGAGGCGGACGTTGCAGTGAGCTGAGATCGTGC | CA2587926398 | INSR | c.376_377insCACGATCTCAGCTCACTGCAACGTCCGCCTCCTAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGTAGCAGCTGGGATTACAGGCATGCGCCACCCCGCCCAGCTAATTTTTG (p.Val126AlafsTer12) n.351_352insCACGATCTCAGCTCACTGCAACGTCCGCCTCCTAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGTAGCAGCTGGGATTACAGGCATGCGCCACCCCGCCCAGCTAATTTTTG c.454_455insCACGATCTCAGCTCACTGCAACGTCCGCCTCCTAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGTAGCAGCTGGGATTACAGGCATGCGCCACCCCGCCCAGCTAATTTTTG (p.Val152AlafsTer12) | gnomAD v4 |
| 19 | g.7267622C>A | CA403159624 | INSR | c.375G>T (p.Met125Ile) n.350G>T c.453G>T (p.Met151Ile) | |
| 19 | g.7267622C>G | CA403159623 | INSR | c.375G>C (p.Met125Ile) n.350G>C c.453G>C (p.Met151Ile) | |
| 19 | g.7267622C>T | CA403159622 | INSR | c.375G>A (p.Met125Ile) n.350G>A c.453G>A (p.Met151Ile) | |
| 19 | g.7267623A>C | CA403159627 | INSR | c.374T>G (p.Met125Arg) n.349T>G c.452T>G (p.Met151Arg) | |
| 19 | g.7267623A>G | CA403159625 | INSR | c.374T>C (p.Met125Thr) n.349T>C c.452T>C (p.Met151Thr) | |
| 19 | g.7267623A>T | CA403159626 | INSR | c.374T>A (p.Met125Lys) n.349T>A c.452T>A (p.Met151Lys) | |
| 19 | g.7267624T>A | CA403159628 | INSR | c.373A>T (p.Met125Leu) n.348A>T c.451A>T (p.Met151Leu) | |
| 19 | g.7267624T>C | CA9136131 | INSR | c.373A>G (p.Met125Val) n.348A>G c.451A>G (p.Met151Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267624T>G | CA403159629 | INSR | c.373A>C (p.Met125Leu) n.348A>C c.451A>C (p.Met151Leu) | |
| 19 | g.7267624T= | CA2320836485 | INSR | c.373A= (p.Met125=) n.348A= c.451A= (p.Met151=) | |
| 19 | g.7267625C>A | CA403159630 | INSR | c.372G>T (p.Glu124Asp) n.347G>T c.450G>T (p.Glu150Asp) | |
| 19 | g.7267625C>G | CA403159631 | INSR | c.372G>C (p.Glu124Asp) n.347G>C c.450G>C (p.Glu150Asp) | |
| 19 | g.7267625C>T | CA505481873 | INSR | c.372G>A (p.Glu124=) n.347G>A c.450G>A (p.Glu150=) | |
| 19 | g.7267626T>A | CA403159632 | INSR | c.371A>T (p.Glu124Val) n.346A>T c.449A>T (p.Glu150Val) | |
| 19 | g.7267626T>C | CA403159633 | INSR | c.371A>G (p.Glu124Gly) n.346A>G c.449A>G (p.Glu150Gly) | |
| 19 | g.7267626T>G | CA403159634 | INSR | c.371A>C (p.Glu124Ala) n.346A>C c.449A>C (p.Glu150Ala) | |
| 19 | g.7267627C>A | CA403159635 | INSR | c.370G>T (p.Glu124Ter) n.345G>T c.448G>T (p.Glu150Ter) | |
| 19 | g.7267627C= | CA2320836486 | INSR | c.370G= (p.Glu124=) n.345G= c.448G= (p.Glu150=) | |
| 19 | g.7267627C>G | CA403159636 | INSR | c.370G>C (p.Glu124Gln) n.345G>C c.448G>C (p.Glu150Gln) | |
| 19 | g.7267627C>T | CA304648013 | INSR | c.370G>A (p.Glu124Lys) n.345G>A c.448G>A (p.Glu150Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267628G>A | CA505481874 | INSR | c.369C>T (p.Phe123=) n.344C>T c.447C>T (p.Phe149=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267628G>C | CA403159638 | INSR | c.369C>G (p.Phe123Leu) n.344C>G c.447C>G (p.Phe149Leu) | |
| 19 | g.7267628G= | CA2320836487 | INSR | c.369C= (p.Phe123=) n.344C= c.447C= (p.Phe149=) | |
| 19 | g.7267628G>T | CA403159637 | INSR | c.369C>A (p.Phe123Leu) n.344C>A c.447C>A (p.Phe149Leu) | |
| 19 | g.7267629A>C | CA403159639 | INSR | c.368T>G (p.Phe123Cys) n.343T>G c.446T>G (p.Phe149Cys) | |
| 19 | g.7267629A>G | CA403159640 | INSR | c.368T>C (p.Phe123Ser) n.343T>C c.446T>C (p.Phe149Ser) | |
| 19 | g.7267629A>T | CA403159641 | INSR | c.368T>A (p.Phe123Tyr) n.343T>A c.446T>A (p.Phe149Tyr) | |
| 19 | g.7267629_7267630insGGACTCCCTCGGAATGATAGCCCGGGAGTTAGTCTGCAAATA | CA2569019124 | INSR | c.368_369insATTTGCAGACTAACTCCCGGGCTATCATTCCGAGGGAGTCCT (p.Phe123LeufsTer5) n.343_344insATTTGCAGACTAACTCCCGGGCTATCATTCCGAGGGAGTCCT c.446_447insATTTGCAGACTAACTCCCGGGCTATCATTCCGAGGGAGTCCT (p.Phe149LeufsTer5) | |
| 19 | g.7267630A>C | CA403159642 | INSR | c.367T>G (p.Phe123Val) n.342T>G c.445T>G (p.Phe149Val) | |
| 19 | g.7267630A>G | CA403159643 | INSR | c.367T>C (p.Phe123Leu) n.342T>C c.445T>C (p.Phe149Leu) | |
| 19 | g.7267630A>T | CA403159644 | INSR | c.367T>A (p.Phe123Ile) n.342T>A c.445T>A (p.Phe149Ile) | |
| 19 | g.7267631G>A | CA505481875 | INSR | c.366C>T (p.Ile122=) n.341C>T c.444C>T (p.Ile148=) | |
| 19 | g.7267631G>C | CA403159645 | INSR | c.366C>G (p.Ile122Met) n.341C>G c.444C>G (p.Ile148Met) | |
| 19 | g.7267631G>T | CA505481876 | INSR | c.366C>A (p.Ile122=) n.341C>A c.444C>A (p.Ile148=) | |
| 19 | g.7267632A>C | CA403159646 | INSR | c.365T>G (p.Ile122Ser) n.340T>G c.443T>G (p.Ile148Ser) | |
| 19 | g.7267632A>G | CA403159647 | INSR | c.365T>C (p.Ile122Thr) n.340T>C c.443T>C (p.Ile148Thr) | |
| 19 | g.7267632A>T | CA403159648 | INSR | c.365T>A (p.Ile122Asn) n.340T>A c.443T>A (p.Ile148Asn) | |
| 19 | g.7267633T>A | CA403159896 | INSR | c.364A>T (p.Ile122Phe) n.339A>T c.442A>T (p.Ile148Phe) | |
| 19 | g.7267633T>C | CA403159897 | INSR | c.364A>G (p.Ile122Val) n.339A>G c.442A>G (p.Ile148Val) | |
| 19 | g.7267633T>G | CA403159898 | INSR | c.364A>C (p.Ile122Leu) n.339A>C c.442A>C (p.Ile148Leu) | |
| 19 | g.7267633_7267634insTCGGTGTGAAAATGATGGATTGAAGCGCCATGCAAGCACCCTTATGCTGTGAAGCTGATTTAGTCTGCAAATAAGAAGCAGCCT | CA2501115231 | INSR | c.364_365insGGCTGCTTCTTATTTGCAGACTAAATCAGCTTCACAGCATAAGGGTGCTTGCATGGCGCTTCAATCCATCATTTTCACACCGAA (p.Val121_Ile122insArgLeuLeuLeuIleCysArgLeuAsnGlnLeuHisSerIleArgValLeuAlaTrpArgPheAsnProSerPheSerHisArg) n.339_340insGGCTGCTTCTTATTTGCAGACTAAATCAGCTTCACAGCATAAGGGTGCTTGCATGGCGCTTCAATCCATCATTTTCACACCGAA c.442_443insGGCTGCTTCTTATTTGCAGACTAAATCAGCTTCACAGCATAAGGGTGCTTGCATGGCGCTTCAATCCATCATTTTCACACCGAA (p.Val147_Ile148insArgLeuLeuLeuIleCysArgLeuAsnGlnLeuHisSerIleArgValLeuAlaTrpArgPheAsnProSerPheSerHisArg) | |
| 19 | g.7267634G>A | CA505481923 | INSR | c.363C>T (p.Val121=) n.338C>T c.441C>T (p.Val147=) | |
| 19 | g.7267634G>C | CA505481924 | INSR | c.363C>G (p.Val121=) n.338C>G c.441C>G (p.Val147=) | |
| 19 | g.7267634G>T | CA505481925 | INSR | c.363C>A (p.Val121=) n.338C>A c.441C>A (p.Val147=) | |
| 19 | g.7267635A>C | CA403159900 | INSR | c.362T>G (p.Val121Gly) n.337T>G c.440T>G (p.Val147Gly) | |
| 19 | g.7267635A>G | CA403159901 | INSR | c.362T>C (p.Val121Ala) n.337T>C c.440T>C (p.Val147Ala) | |
| 19 | g.7267635A>T | CA403159899 | INSR | c.362T>A (p.Val121Asp) n.337T>A c.440T>A (p.Val147Asp) | |
| 19 | g.7267636C>A | CA403159902 | INSR | c.361G>T (p.Val121Phe) n.336G>T c.439G>T (p.Val147Phe) | |
| 19 | g.7267636C>G | CA403159904 | INSR | c.361G>C (p.Val121Leu) n.336G>C c.439G>C (p.Val147Leu) | |
| 19 | g.7267636C>T | CA403159903 | INSR | c.361G>A (p.Val121Ile) n.336G>A c.439G>A (p.Val147Ile) | |
| 19 | g.7267637C>A | CA505481929 | INSR | c.360G>T (p.Leu120=) n.335G>T c.438G>T (p.Leu146=) | |
| 19 | g.7267637C>G | CA505481930 | INSR | c.360G>C (p.Leu120=) n.335G>C c.438G>C (p.Leu146=) | |
| 19 | g.7267637C>T | CA505481931 | INSR | c.360G>A (p.Leu120=) n.335G>A c.438G>A (p.Leu146=) | |
| 19 | g.7267638A>C | CA403159905 | INSR | c.359T>G (p.Leu120Arg) n.334T>G c.437T>G (p.Leu146Arg) | |
| 19 | g.7267638A>G | CA403159906 | INSR | c.359T>C (p.Leu120Pro) n.334T>C c.437T>C (p.Leu146Pro) | gnomAD v3 gnomAD v4 |
| 19 | g.7267638A>T | CA403159907 | INSR | c.359T>A (p.Leu120Gln) n.334T>A c.437T>A (p.Leu146Gln) | |
| 19 | g.7267639G>A | CA505481932 | INSR | c.358C>T (p.Leu120=) n.333C>T c.436C>T (p.Leu146=) | gnomAD v4 |
| 19 | g.7267639G>C | CA403159908 | INSR | c.358C>G (p.Leu120Val) n.333C>G c.436C>G (p.Leu146Val) | |
| 19 | g.7267639G>T | CA403159909 | INSR | c.358C>A (p.Leu120Met) n.333C>A c.436C>A (p.Leu146Met) | |
| 19 | g.7267640C>A | CA505481935 | INSR | c.357G>T (p.Ala119=) n.332G>T c.435G>T (p.Ala145=) | gnomAD v4 |
| 19 | g.7267640C= | CA2320836488 | INSR | c.357G= (p.Ala119=) n.332G= c.435G= (p.Ala145=) | |
| 19 | g.7267640C>G | CA505481933 | INSR | c.357G>C (p.Ala119=) n.332G>C c.435G>C (p.Ala145=) | dbSNP |
| 19 | g.7267640C>T | CA9136132 | INSR | c.357G>A (p.Ala119=) n.332G>A c.435G>A (p.Ala145=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.7267641G>A | CA403159910 | INSR | c.356C>T (p.Ala119Val) n.331C>T c.434C>T (p.Ala145Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267641G>C | CA403159911 | INSR | c.356C>G (p.Ala119Gly) n.331C>G c.434C>G (p.Ala145Gly) | |
| 19 | g.7267641G= | CA2320836489 | INSR | c.356C= (p.Ala119=) n.331C= c.434C= (p.Ala145=) | |
| 19 | g.7267641G>T | CA403159912 | INSR | c.356C>A (p.Ala119Glu) n.331C>A c.434C>A (p.Ala145Glu) | |
| 19 | g.7267642C>A | CA403159913 | INSR | c.355G>T (p.Ala119Ser) n.330G>T c.433G>T (p.Ala145Ser) | |
| 19 | g.7267642C= | CA2320836490 | INSR | c.355G= (p.Ala119=) n.330G= c.433G= (p.Ala145=) | |
| 19 | g.7267642C>G | CA304648024 | INSR | c.355G>C (p.Ala119Pro) n.330G>C c.433G>C (p.Ala145Pro) | dbSNP gnomAD v4 |
| 19 | g.7267642C>T | CA403159914 | INSR | c.355G>A (p.Ala119Thr) n.330G>A c.433G>A (p.Ala145Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267643G>A | CA505481937 | INSR | c.354C>T (p.Tyr118=) n.329C>T c.432C>T (p.Tyr144=) | gnomAD v4 |
| 19 | g.7267643G>C | CA403159916 | INSR | c.354C>G (p.Tyr118Ter) n.329C>G c.432C>G (p.Tyr144Ter) | |
| 19 | g.7267643G>T | CA403159915 | INSR | c.354C>A (p.Tyr118Ter) n.329C>A c.432C>A (p.Tyr144Ter) | gnomAD v4 |
| 19 | g.7267643_7267647delinsGTAGT | CA2320836491 | INSR | c.350_354delinsACTAC (p.Asn117=) n.325_329delinsACTAC c.428_432delinsACTAC (p.Asn143=) | |
| 19 | g.7267644T>A | CA403159917 | INSR | c.353A>T (p.Tyr118Phe) n.328A>T c.431A>T (p.Tyr144Phe) | |
| 19 | g.7267644T>C | CA403159918 | INSR | c.353A>G (p.Tyr118Cys) n.328A>G c.431A>G (p.Tyr144Cys) | gnomAD v4 |
| 19 | g.7267644T>G | CA403159919 | INSR | c.353A>C (p.Tyr118Ser) n.328A>C c.431A>C (p.Tyr144Ser) | |
| 19 | g.7267646_7267649del | CA631709806 | INSR | c.350_353del (p.Asn117ThrfsTer19) n.325_328del c.428_431del (p.Asn143ThrfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.7267645A= | CA2320836492 | INSR | c.352T= (p.Tyr118=) n.327T= c.430T= (p.Tyr144=) | |
| 19 | g.7267645A>C | CA403159920 | INSR | c.352T>G (p.Tyr118Asp) n.327T>G c.430T>G (p.Tyr144Asp) | |
| 19 | g.7267645A>G | CA403159921 | INSR | c.352T>C (p.Tyr118His) n.327T>C c.430T>C (p.Tyr144His) | |
| 19 | g.7267645A>T | CA9136133 | INSR | c.352T>A (p.Tyr118Asn) n.327T>A c.430T>A (p.Tyr144Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267646G>A | CA505481939 | INSR | c.351C>T (p.Asn117=) n.326C>T c.429C>T (p.Asn143=) | |
| 19 | g.7267646G>C | CA403159922 | INSR | c.351C>G (p.Asn117Lys) n.326C>G c.429C>G (p.Asn143Lys) | |
| 19 | g.7267646G= | CA2320836493 | INSR | c.351C= (p.Asn117=) n.326C= c.429C= (p.Asn143=) | |
| 19 | g.7267646G>T | CA403159923 | INSR | c.351C>A (p.Asn117Lys) n.326C>A c.429C>A (p.Asn143Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267647T>A | CA403159924 | INSR | c.350A>T (p.Asn117Ile) n.325A>T c.428A>T (p.Asn143Ile) | |
| 19 | g.7267647T>C | CA403159925 | INSR | c.350A>G (p.Asn117Ser) n.325A>G c.428A>G (p.Asn143Ser) | |
| 19 | g.7267647T>G | CA403159926 | INSR | c.350A>C (p.Asn117Thr) n.325A>C c.428A>C (p.Asn143Thr) | |
| 19 | g.7267648T>A | CA403159929 | INSR | c.349A>T (p.Asn117Tyr) n.324A>T c.427A>T (p.Asn143Tyr) | |
| 19 | g.7267648T>C | CA403159928 | INSR | c.349A>G (p.Asn117Asp) n.324A>G c.427A>G (p.Asn143Asp) | |
| 19 | g.7267648T>G | CA403159927 | INSR | c.349A>C (p.Asn117His) n.324A>C c.427A>C (p.Asn143His) | |
| 19 | g.7267649A>C | CA403159930 | INSR | c.348T>G (p.Phe116Leu) n.323T>G c.426T>G (p.Phe142Leu) | |
| 19 | g.7267649A>G | CA505481941 | INSR | c.348T>C (p.Phe116=) n.323T>C c.426T>C (p.Phe142=) | |
| 19 | g.7267649A>T | CA403159931 | INSR | c.348T>A (p.Phe116Leu) n.323T>A c.426T>A (p.Phe142Leu) | |
| 19 | g.7267650A>C | CA403159932 | INSR | c.347T>G (p.Phe116Cys) n.322T>G c.425T>G (p.Phe142Cys) | |
| 19 | g.7267650A>G | CA403159933 | INSR | c.347T>C (p.Phe116Ser) n.322T>C c.425T>C (p.Phe142Ser) | |
| 19 | g.7267650A>T | CA403159934 | INSR | c.347T>A (p.Phe116Tyr) n.322T>A c.425T>A (p.Phe142Tyr) | |
| 19 | g.7267651A>C | CA403159937 | INSR | c.346T>G (p.Phe116Val) n.321T>G c.424T>G (p.Phe142Val) | |
| 19 | g.7267651A>G | CA403159936 | INSR | c.346T>C (p.Phe116Leu) n.321T>C c.424T>C (p.Phe142Leu) | |
| 19 | g.7267651A>T | CA403159935 | INSR | c.346T>A (p.Phe116Ile) n.321T>A c.424T>A (p.Phe142Ile) | |
| 19 | g.7267652G>A | CA9136134 | INSR | c.345C>T (p.Phe115=) n.320C>T c.423C>T (p.Phe141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267652G>C | CA403159938 | INSR | c.345C>G (p.Phe115Leu) n.320C>G c.423C>G (p.Phe141Leu) | dbSNP |
| 19 | g.7267652G= | CA2320836494 | INSR | c.345C= (p.Phe115=) n.320C= c.423C= (p.Phe141=) | |
| 19 | g.7267652G>T | CA403159939 | INSR | c.345C>A (p.Phe115Leu) n.320C>A c.423C>A (p.Phe141Leu) | |
| 19 | g.7267653A>C | CA403159940 | INSR | c.344T>G (p.Phe115Cys) n.319T>G c.422T>G (p.Phe141Cys) | |
| 19 | g.7267653A>G | CA403159941 | INSR | c.344T>C (p.Phe115Ser) n.319T>C c.422T>C (p.Phe141Ser) | gnomAD v4 |
| 19 | g.7267653A>T | CA403159942 | INSR | c.344T>A (p.Phe115Tyr) n.319T>A c.422T>A (p.Phe141Tyr) | |
| 19 | g.7267654A>C | CA403159943 | INSR | c.343T>G (p.Phe115Val) n.318T>G c.421T>G (p.Phe141Val) | |
| 19 | g.7267654A>G | CA403159945 | INSR | c.343T>C (p.Phe115Leu) n.318T>C c.421T>C (p.Phe141Leu) | |
| 19 | g.7267654A>T | CA403159944 | INSR | c.343T>A (p.Phe115Ile) n.318T>A c.421T>A (p.Phe141Ile) | |
| 19 | g.7267655C>A | CA505481945 | INSR | c.342G>T (p.Leu114=) n.317G>T c.420G>T (p.Leu140=) | |
| 19 | g.7267655C>G | CA505481946 | INSR | c.342G>C (p.Leu114=) n.317G>C c.420G>C (p.Leu140=) | |
| 19 | g.7267655C>T | CA505481947 | INSR | c.342G>A (p.Leu114=) n.317G>A c.420G>A (p.Leu140=) | |
| 19 | g.7267656A>C | CA403159946 | INSR | c.341T>G (p.Leu114Arg) n.316T>G c.419T>G (p.Leu140Arg) | |
| 19 | g.7267656A>G | CA403159947 | INSR | c.341T>C (p.Leu114Pro) n.316T>C c.419T>C (p.Leu140Pro) | |
| 19 | g.7267656A>T | CA403159948 | INSR | c.341T>A (p.Leu114Gln) n.316T>A c.419T>A (p.Leu140Gln) | gnomAD v4 |
| 19 | g.7267657G>A | CA505481951 | INSR | c.340C>T (p.Leu114=) n.315C>T c.418C>T (p.Leu140=) | |
| 19 | g.7267657G>C | CA403159949 | INSR | c.340C>G (p.Leu114Val) n.315C>G c.418C>G (p.Leu140Val) | |
| 19 | g.7267657G>T | CA403159950 | INSR | c.340C>A (p.Leu114Met) n.315C>A c.418C>A (p.Leu140Met) | |
| 19 | g.7267658T>A | CA505481952 | INSR | c.339A>T (p.Arg113=) n.314A>T c.417A>T (p.Arg139=) | |
| 19 | g.7267658T>C | CA505481953 | INSR | c.339A>G (p.Arg113=) n.314A>G c.417A>G (p.Arg139=) | |
| 19 | g.7267658T>G | CA505481954 | INSR | c.339A>C (p.Arg113=) n.314A>C c.417A>C (p.Arg139=) | |
| 19 | g.7267658_7267659del | CA2553702340 | INSR | c.338_339del (p.Arg113ProfsTer4) n.313_314del c.416_417del (p.Arg139ProfsTer4) | |
| 19 | g.7267659C>A | CA403159951 | INSR | c.338G>T (p.Arg113Leu) n.313G>T c.416G>T (p.Arg139Leu) | dbSNP gnomAD v4 |
| 19 | g.7267659C= | CA2320836495 | INSR | c.338G= (p.Arg113=) n.313G= c.416G= (p.Arg139=) | |
| 19 | g.7267659C>G | CA124255 | INSR | c.338G>C (p.Arg113Pro) n.313G>C c.416G>C (p.Arg139Pro) | ClinVar dbSNP |
| 19 | g.7267659C>T | CA403159953 | INSR | c.338G>A (p.Arg113Gln) n.313G>A c.416G>A (p.Arg139Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267660G>A | CA403159954 | INSR | c.337C>T (p.Arg113Ter) n.312C>T c.415C>T (p.Arg139Ter) | gnomAD v4 |
| 19 | g.7267660G>C | CA403159955 | INSR | c.337C>G (p.Arg113Gly) n.312C>G c.415C>G (p.Arg139Gly) | |
| 19 | g.7267660G= | CA2320836496 | INSR | c.337C= (p.Arg113=) n.312C= c.415C= (p.Arg139=) | |
| 19 | g.7267660G>T | CA505481955 | INSR | c.337C>A (p.Arg113=) n.312C>A c.415C>A (p.Arg139=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267661T>A | CA505481956 | INSR | c.336A>T (p.Ser112=) n.311A>T c.414A>T (p.Ser138=) | |
| 19 | g.7267661T>C | CA505481958 | INSR | c.336A>G (p.Ser112=) n.311A>G c.414A>G (p.Ser138=) | |
| 19 | g.7267661T>G | CA505481959 | INSR | c.336A>C (p.Ser112=) n.311A>C c.414A>C (p.Ser138=) | gnomAD v4 |
| 19 | g.7267662G>A | CA403159958 | INSR | c.335C>T (p.Ser112Leu) n.310C>T c.413C>T (p.Ser138Leu) | |
| 19 | g.7267662G>C | CA403159957 | INSR | c.335C>G (p.Ser112Ter) n.310C>G c.413C>G (p.Ser138Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267662G= | CA2320836497 | INSR | c.335C= (p.Ser112=) n.310C= c.413C= (p.Ser138=) | |
| 19 | g.7267662G>T | CA403159956 | INSR | c.335C>A (p.Ser112Ter) n.310C>A c.413C>A (p.Ser138Ter) | |
| 19 | g.7267662_7267663insGG | CA2542160728 | INSR | c.335_336insCC (p.Arg113HisfsTer25) n.310_311insCC c.413_414insCC (p.Arg139HisfsTer25) | |
| 19 | g.7267663A>C | CA403159959 | INSR | c.334T>G (p.Ser112Ala) n.309T>G c.412T>G (p.Ser138Ala) | |
| 19 | g.7267663A>G | CA403159961 | INSR | c.334T>C (p.Ser112Pro) n.309T>C c.412T>C (p.Ser138Pro) | |
| 19 | g.7267663A>T | CA403159960 | INSR | c.334T>A (p.Ser112Thr) n.309T>A c.412T>A (p.Ser138Thr) | |
| 19 | g.7267664T>A | CA505481965 | INSR | c.333A>T (p.Gly111=) n.308A>T c.411A>T (p.Gly137=) | |
| 19 | g.7267664T>C | CA505481964 | INSR | c.333A>G (p.Gly111=) n.308A>G c.411A>G (p.Gly137=) | dbSNP |
| 19 | g.7267664T>G | CA505481963 | INSR | c.333A>C (p.Gly111=) n.308A>C c.411A>C (p.Gly137=) | |
| 19 | g.7267665C>A | CA403159962 | INSR | c.332G>T (p.Gly111Val) n.307G>T c.410G>T (p.Gly137Val) | dbSNP |
| 19 | g.7267665C= | CA2320836498 | INSR | c.332G= (p.Gly111=) n.307G= c.410G= (p.Gly137=) | |
| 19 | g.7267665C>G | CA403159964 | INSR | c.332G>C (p.Gly111Ala) n.307G>C c.410G>C (p.Gly137Ala) | |
| 19 | g.7267665C>T | CA403159963 | INSR | c.332G>A (p.Gly111Glu) n.307G>A c.410G>A (p.Gly137Glu) | gnomAD v4 |
| 19 | g.7267666C>A | CA403159965 | INSR | c.331G>T (p.Gly111Ter) n.306G>T c.409G>T (p.Gly137Ter) | |
| 19 | g.7267666C>G | CA403159966 | INSR | c.331G>C (p.Gly111Arg) n.306G>C c.409G>C (p.Gly137Arg) | |
| 19 | g.7267666C>T | CA403159967 | INSR | c.331G>A (p.Gly111Arg) n.306G>A c.409G>A (p.Gly137Arg) | gnomAD v4 |
| 19 | g.7267667C>A | CA505481966 | INSR | c.330G>T (p.Arg110=) n.305G>T c.408G>T (p.Arg136=) | |
| 19 | g.7267667C>G | CA505481967 | INSR | c.330G>C (p.Arg110=) n.305G>C c.408G>C (p.Arg136=) | |
| 19 | g.7267667C>T | CA505481968 | INSR | c.330G>A (p.Arg110=) n.305G>A c.408G>A (p.Arg136=) | |
| 19 | g.7267668C>A | CA403159968 | INSR | c.329G>T (p.Arg110Leu) n.304G>T c.407G>T (p.Arg136Leu) | |
| 19 | g.7267668C>G | CA403159969 | INSR | c.329G>C (p.Arg110Pro) n.304G>C c.407G>C (p.Arg136Pro) | |
| 19 | g.7267668C>T | CA403159970 | INSR | c.329G>A (p.Arg110Gln) n.304G>A c.407G>A (p.Arg136Gln) | ClinVar |
| 19 | g.7267669G>A | CA403159971 | INSR | c.328C>T (p.Arg110Trp) n.303C>T c.406C>T (p.Arg136Trp) | dbSNP gnomAD v4 |
| 19 | g.7267669G>C | CA403159972 | INSR | c.328C>G (p.Arg110Gly) n.303C>G c.406C>G (p.Arg136Gly) | |
| 19 | g.7267669G= | CA2320836499 | INSR | c.328C= (p.Arg110=) n.303C= c.406C= (p.Arg136=) | |
| 19 | g.7267669G>T | CA9136135 | INSR | c.328C>A (p.Arg110=) n.303C>A c.406C>A (p.Arg136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267670dup | CA2735547924 | INSR | c.328dup (p.Arg110ProfsTer8) n.303dup c.406dup (p.Arg136ProfsTer8) | dbSNP |
| 19 | g.7267670G>A | CA505481971 | INSR | c.327C>T (p.Ile109=) n.302C>T c.405C>T (p.Ile135=) | |
| 19 | g.7267670G>C | CA403159973 | INSR | c.327C>G (p.Ile109Met) n.302C>G c.405C>G (p.Ile135Met) | |
| 19 | g.7267670G>T | CA505481970 | INSR | c.327C>A (p.Ile109=) n.302C>A c.405C>A (p.Ile135=) | |
| 19 | g.7267671A>C | CA403159975 | INSR | c.326T>G (p.Ile109Ser) n.301T>G c.404T>G (p.Ile135Ser) | |
| 19 | g.7267671A>G | CA403159977 | INSR | c.326T>C (p.Ile109Thr) n.301T>C c.404T>C (p.Ile135Thr) | |
| 19 | g.7267671A>T | CA403159979 | INSR | c.326T>A (p.Ile109Asn) n.301T>A c.404T>A (p.Ile135Asn) | |
| 19 | g.7267672T>A | CA403159981 | INSR | c.325A>T (p.Ile109Phe) n.300A>T c.403A>T (p.Ile135Phe) | |
| 19 | g.7267672T>C | CA403159984 | INSR | c.325A>G (p.Ile109Val) n.300A>G c.403A>G (p.Ile135Val) | |
| 19 | g.7267672T>G | CA403159982 | INSR | c.325A>C (p.Ile109Leu) n.300A>C c.403A>C (p.Ile135Leu) | |
| 19 | g.7267673G>A | CA505481973 | INSR | c.324C>T (p.Val108=) n.299C>T c.402C>T (p.Val134=) | |
| 19 | g.7267673G>C | CA505481974 | INSR | c.324C>G (p.Val108=) n.299C>G c.402C>G (p.Val134=) | |
| 19 | g.7267673G>T | CA505481975 | INSR | c.324C>A (p.Val108=) n.299C>A c.402C>A (p.Val134=) | |
| 19 | g.7267674A= | CA2320836500 | INSR | c.323T= (p.Val108=) n.298T= c.401T= (p.Val134=) | |
| 19 | g.7267674A>C | CA403159986 | INSR | c.323T>G (p.Val108Gly) n.298T>G c.401T>G (p.Val134Gly) | |
| 19 | g.7267674A>G | CA403159987 | INSR | c.323T>C (p.Val108Ala) n.298T>C c.401T>C (p.Val134Ala) | |
| 19 | g.7267674A>T | CA403159989 | INSR | c.323T>A (p.Val108Asp) n.298T>A c.401T>A (p.Val134Asp) | dbSNP |
| 19 | g.7267675C>A | CA403159991 | INSR | c.322G>T (p.Val108Phe) n.297G>T c.400G>T (p.Val134Phe) | |
| 19 | g.7267675C>G | CA403159992 | INSR | c.322G>C (p.Val108Leu) n.297G>C c.400G>C (p.Val134Leu) | |
| 19 | g.7267675C>T | CA403159994 | INSR | c.322G>A (p.Val108Ile) n.297G>A c.400G>A (p.Val134Ile) | |
| 19 | g.7267676C>A | CA505481977 | INSR | c.321G>T (p.Thr107=) n.296G>T c.399G>T (p.Thr133=) | |
| 19 | g.7267676C>G | CA505481978 | INSR | c.321G>C (p.Thr107=) n.296G>C c.399G>C (p.Thr133=) | |
| 19 | g.7267676C>T | CA505481976 | INSR | c.321G>A (p.Thr107=) n.296G>A c.399G>A (p.Thr133=) |