Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.78511299G>A | CA203377 | FRAS1 | c.9806G>A (p.Arg3269Gln) c.9800G>A (p.Arg3267Gln) c.9578G>A (p.Arg3193Gln) c.7505G>A (p.Arg2502Gln) c.4694G>A (p.Arg1565Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.78511299G>C | CA357382004 | FRAS1 | c.9806G>C (p.Arg3269Pro) c.9800G>C (p.Arg3267Pro) c.9578G>C (p.Arg3193Pro) c.7505G>C (p.Arg2502Pro) c.4694G>C (p.Arg1565Pro) | |
4 | g.78511299G= | CA1470551924 | FRAS1 | c.9806G= (p.Arg3269=) c.9800G= (p.Arg3267=) c.9578G= (p.Arg3193=) c.7505G= (p.Arg2502=) c.4694G= (p.Arg1565=) | |
4 | g.78511299G>T | CA357382008 | FRAS1 | c.9806G>T (p.Arg3269Leu) c.9800G>T (p.Arg3267Leu) c.9578G>T (p.Arg3193Leu) c.7505G>T (p.Arg2502Leu) c.4694G>T (p.Arg1565Leu) | gnomAD v4 |
4 | g.78511300G>A | CA440225019 | FRAS1 | c.9807G>A (p.Arg3269=) c.9801G>A (p.Arg3267=) c.9579G>A (p.Arg3193=) c.7506G>A (p.Arg2502=) c.4695G>A (p.Arg1565=) | |
4 | g.78511300G>C | CA440225020 | FRAS1 | c.9807G>C (p.Arg3269=) c.9801G>C (p.Arg3267=) c.9579G>C (p.Arg3193=) c.7506G>C (p.Arg2502=) c.4695G>C (p.Arg1565=) | |
4 | g.78511300G>T | CA440225021 | FRAS1 | c.9807G>T (p.Arg3269=) c.9801G>T (p.Arg3267=) c.9579G>T (p.Arg3193=) c.7506G>T (p.Arg2502=) c.4695G>T (p.Arg1565=) | dbSNP |
4 | g.78511301A= | CA1470551931 | FRAS1 | c.9808A= (p.Arg3270=) c.9802A= (p.Arg3268=) c.9580A= (p.Arg3194=) c.7507A= (p.Arg2503=) c.4696A= (p.Arg1566=) | |
4 | g.78511301A>C | CA2978770 | FRAS1 | c.9808A>C (p.Arg3270=) c.9802A>C (p.Arg3268=) c.9580A>C (p.Arg3194=) c.7507A>C (p.Arg2503=) c.4696A>C (p.Arg1566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.78511301A>G | CA357382014 | FRAS1 | c.9808A>G (p.Arg3270Gly) c.9802A>G (p.Arg3268Gly) c.9580A>G (p.Arg3194Gly) c.7507A>G (p.Arg2503Gly) c.4696A>G (p.Arg1566Gly) | |
4 | g.78511301A>T | CA357382017 | FRAS1 | c.9808A>T (p.Arg3270Trp) c.9802A>T (p.Arg3268Trp) c.9580A>T (p.Arg3194Trp) c.7507A>T (p.Arg2503Trp) c.4696A>T (p.Arg1566Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.78511302G>A | CA2978771 | FRAS1 | c.9809G>A (p.Arg3270Lys) c.9803G>A (p.Arg3268Lys) c.9581G>A (p.Arg3194Lys) c.7508G>A (p.Arg2503Lys) c.4697G>A (p.Arg1566Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.78511302G>C | CA357382021 | FRAS1 | c.9809G>C (p.Arg3270Thr) c.9803G>C (p.Arg3268Thr) c.9581G>C (p.Arg3194Thr) c.7508G>C (p.Arg2503Thr) c.4697G>C (p.Arg1566Thr) | |
4 | g.78511302G= | CA1470551936 | FRAS1 | c.9809G= (p.Arg3270=) c.9803G= (p.Arg3268=) c.9581G= (p.Arg3194=) c.7508G= (p.Arg2503=) c.4697G= (p.Arg1566=) | |
4 | g.78511302G>T | CA357382024 | FRAS1 | c.9809G>T (p.Arg3270Met) c.9803G>T (p.Arg3268Met) c.9581G>T (p.Arg3194Met) c.7508G>T (p.Arg2503Met) c.4697G>T (p.Arg1566Met) | gnomAD v4 |
4 | g.78511303G>A | CA2978773 | FRAS1 | c.9810G>A (p.Arg3270=) c.9804G>A (p.Arg3268=) c.9582G>A (p.Arg3194=) c.7509G>A (p.Arg2503=) c.4698G>A (p.Arg1566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.78511303G>C | CA357382029 | FRAS1 | c.9810G>C (p.Arg3270Ser) c.9804G>C (p.Arg3268Ser) c.9582G>C (p.Arg3194Ser) c.7509G>C (p.Arg2503Ser) c.4698G>C (p.Arg1566Ser) | |
4 | g.78511303G= | CA1470551943 | FRAS1 | c.9810G= (p.Arg3270=) c.9804G= (p.Arg3268=) c.9582G= (p.Arg3194=) c.7509G= (p.Arg2503=) c.4698G= (p.Arg1566=) | |
4 | g.78511303G>T | CA2978772 | FRAS1 | c.9810G>T (p.Arg3270Ser) c.9804G>T (p.Arg3268Ser) c.9582G>T (p.Arg3194Ser) c.7509G>T (p.Arg2503Ser) c.4698G>T (p.Arg1566Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.78511304T>A | CA357382039 | FRAS1 | c.9811T>A (p.Phe3271Ile) c.9805T>A (p.Phe3269Ile) c.9583T>A (p.Phe3195Ile) c.7510T>A (p.Phe2504Ile) c.4699T>A (p.Phe1567Ile) | |
4 | g.78511304T>C | CA357382038 | FRAS1 | c.9811T>C (p.Phe3271Leu) c.9805T>C (p.Phe3269Leu) c.9583T>C (p.Phe3195Leu) c.7510T>C (p.Phe2504Leu) c.4699T>C (p.Phe1567Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.78511304T>G | CA357382035 | FRAS1 | c.9811T>G (p.Phe3271Val) c.9805T>G (p.Phe3269Val) c.9583T>G (p.Phe3195Val) c.7510T>G (p.Phe2504Val) c.4699T>G (p.Phe1567Val) | |
4 | g.78511304T= | CA1470551952 | FRAS1 | c.9811T= (p.Phe3271=) c.9805T= (p.Phe3269=) c.9583T= (p.Phe3195=) c.7510T= (p.Phe2504=) c.4699T= (p.Phe1567=) | |
4 | g.78511305T>A | CA357382048 | FRAS1 | c.9812T>A (p.Phe3271Tyr) c.9806T>A (p.Phe3269Tyr) c.9584T>A (p.Phe3195Tyr) c.7511T>A (p.Phe2504Tyr) c.4700T>A (p.Phe1567Tyr) | |
4 | g.78511305T>C | CA357382043 | FRAS1 | c.9812T>C (p.Phe3271Ser) c.9806T>C (p.Phe3269Ser) c.9584T>C (p.Phe3195Ser) c.7511T>C (p.Phe2504Ser) c.4700T>C (p.Phe1567Ser) | |
4 | g.78511305T>G | CA357382045 | FRAS1 | c.9812T>G (p.Phe3271Cys) c.9806T>G (p.Phe3269Cys) c.9584T>G (p.Phe3195Cys) c.7511T>G (p.Phe2504Cys) c.4700T>G (p.Phe1567Cys) | |
4 | g.78511306C>A | CA357382051 | FRAS1 | c.9813C>A (p.Phe3271Leu) c.9807C>A (p.Phe3269Leu) c.9585C>A (p.Phe3195Leu) c.7512C>A (p.Phe2504Leu) c.4701C>A (p.Phe1567Leu) | |
4 | g.78511306C>G | CA357382053 | FRAS1 | c.9813C>G (p.Phe3271Leu) c.9807C>G (p.Phe3269Leu) c.9585C>G (p.Phe3195Leu) c.7512C>G (p.Phe2504Leu) c.4701C>G (p.Phe1567Leu) | |
4 | g.78511306C>T | CA440225028 | FRAS1 | c.9813C>T (p.Phe3271=) c.9807C>T (p.Phe3269=) c.9585C>T (p.Phe3195=) c.7512C>T (p.Phe2504=) c.4701C>T (p.Phe1567=) | |
4 | g.78511307C>A | CA357382058 | FRAS1 | c.9814C>A (p.His3272Asn) c.9808C>A (p.His3270Asn) c.9586C>A (p.His3196Asn) c.7513C>A (p.His2505Asn) c.4702C>A (p.His1568Asn) | |
4 | g.78511307C>G | CA357382063 | FRAS1 | c.9814C>G (p.His3272Asp) c.9808C>G (p.His3270Asp) c.9586C>G (p.His3196Asp) c.7513C>G (p.His2505Asp) c.4702C>G (p.His1568Asp) | |
4 | g.78511307C>T | CA357382064 | FRAS1 | c.9814C>T (p.His3272Tyr) c.9808C>T (p.His3270Tyr) c.9586C>T (p.His3196Tyr) c.7513C>T (p.His2505Tyr) c.4702C>T (p.His1568Tyr) | |
4 | g.78511308A= | CA1470551959 | FRAS1 | c.9815A= (p.His3272=) c.9809A= (p.His3270=) c.9587A= (p.His3196=) c.7514A= (p.His2505=) c.4703A= (p.His1568=) | |
4 | g.78511308A>C | CA357382068 | FRAS1 | c.9815A>C (p.His3272Pro) c.9809A>C (p.His3270Pro) c.9587A>C (p.His3196Pro) c.7514A>C (p.His2505Pro) c.4703A>C (p.His1568Pro) | |
4 | g.78511308A>G | CA2978774 | FRAS1 | c.9815A>G (p.His3272Arg) c.9809A>G (p.His3270Arg) c.9587A>G (p.His3196Arg) c.7514A>G (p.His2505Arg) c.4703A>G (p.His1568Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.78511308A>T | CA357382073 | FRAS1 | c.9815A>T (p.His3272Leu) c.9809A>T (p.His3270Leu) c.9587A>T (p.His3196Leu) c.7514A>T (p.His2505Leu) c.4703A>T (p.His1568Leu) | |
4 | g.78511309T>A | CA357382076 | FRAS1 | c.9816T>A (p.His3272Gln) c.9810T>A (p.His3270Gln) c.9588T>A (p.His3196Gln) c.7515T>A (p.His2505Gln) c.4704T>A (p.His1568Gln) | gnomAD v4 |
4 | g.78511309T>C | CA440225032 | FRAS1 | c.9816T>C (p.His3272=) c.9810T>C (p.His3270=) c.9588T>C (p.His3196=) c.7515T>C (p.His2505=) c.4704T>C (p.His1568=) | |
4 | g.78511309T>G | CA357382078 | FRAS1 | c.9816T>G (p.His3272Gln) c.9810T>G (p.His3270Gln) c.9588T>G (p.His3196Gln) c.7515T>G (p.His2505Gln) c.4704T>G (p.His1568Gln) | dbSNP |
4 | g.78511309T= | CA1470551967 | FRAS1 | c.9816T= (p.His3272=) c.9810T= (p.His3270=) c.9588T= (p.His3196=) c.7515T= (p.His2505=) c.4704T= (p.His1568=) | |
4 | g.78511310G>A | CA357382089 | FRAS1 | c.9817G>A (p.Val3273Met) c.9811G>A (p.Val3271Met) c.9589G>A (p.Val3197Met) c.7516G>A (p.Val2506Met) c.4705G>A (p.Val1569Met) | gnomAD v4 |
4 | g.78511310G>C | CA357382092 | FRAS1 | c.9817G>C (p.Val3273Leu) c.9811G>C (p.Val3271Leu) c.9589G>C (p.Val3197Leu) c.7516G>C (p.Val2506Leu) c.4705G>C (p.Val1569Leu) | |
4 | g.78511310G>T | CA357382081 | FRAS1 | c.9817G>T (p.Val3273Leu) c.9811G>T (p.Val3271Leu) c.9589G>T (p.Val3197Leu) c.7516G>T (p.Val2506Leu) c.4705G>T (p.Val1569Leu) | |
4 | g.78511311T>A | CA357382094 | FRAS1 | c.9818T>A (p.Val3273Glu) c.9812T>A (p.Val3271Glu) c.9590T>A (p.Val3197Glu) c.7517T>A (p.Val2506Glu) c.4706T>A (p.Val1569Glu) | |
4 | g.78511311T>C | CA357382095 | FRAS1 | c.9818T>C (p.Val3273Ala) c.9812T>C (p.Val3271Ala) c.9590T>C (p.Val3197Ala) c.7517T>C (p.Val2506Ala) c.4706T>C (p.Val1569Ala) | |
4 | g.78511311T>G | CA357382096 | FRAS1 | c.9818T>G (p.Val3273Gly) c.9812T>G (p.Val3271Gly) c.9590T>G (p.Val3197Gly) c.7517T>G (p.Val2506Gly) c.4706T>G (p.Val1569Gly) | |
4 | g.78511312G>A | CA2978775 | FRAS1 | c.9819G>A (p.Val3273=) c.9813G>A (p.Val3271=) c.9591G>A (p.Val3197=) c.7518G>A (p.Val2506=) c.4707G>A (p.Val1569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.78511312G>C | CA440225036 | FRAS1 | c.9819G>C (p.Val3273=) c.9813G>C (p.Val3271=) c.9591G>C (p.Val3197=) c.7518G>C (p.Val2506=) c.4707G>C (p.Val1569=) | |
4 | g.78511312G= | CA1470551969 | FRAS1 | c.9819G= (p.Val3273=) c.9813G= (p.Val3271=) c.9591G= (p.Val3197=) c.7518G= (p.Val2506=) c.4707G= (p.Val1569=) | |
4 | g.78511312G>T | CA440225037 | FRAS1 | c.9819G>T (p.Val3273=) c.9813G>T (p.Val3271=) c.9591G>T (p.Val3197=) c.7518G>T (p.Val2506=) c.4707G>T (p.Val1569=) |