Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18594341_18594361dup | CA2583602752 | CRLF1 | c.1105_1125dup (p.Lys375_Lys376insGlnPheLeuGlyTrpLeuLys) n.82_102dup c.1039_1059dup (p.Lys353_Lys354insGlnPheLeuGlyTrpLeuLys) | gnomAD v4 |
19 | g.18594348G>A | CA9313998 | CRLF1 | c.1111C>T (p.Leu371=) n.88C>T c.1045C>T (p.Leu349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18594348G>C | CA404850235 | CRLF1 | c.1111C>G (p.Leu371Val) n.88C>G c.1045C>G (p.Leu349Val) | |
19 | g.18594348G= | CA2326431054 | CRLF1 | c.1111C= (p.Leu371=) n.88C= c.1045C= (p.Leu349=) | |
19 | g.18594348G>T | CA404850234 | CRLF1 | c.1111C>A (p.Leu371Met) n.88C>A c.1045C>A (p.Leu349Met) | |
19 | g.18594349G>A | CA506044098 | CRLF1 | c.1110C>T (p.Phe370=) n.87C>T c.1044C>T (p.Phe348=) | |
19 | g.18594349G>C | CA404850236 | CRLF1 | c.1110C>G (p.Phe370Leu) n.87C>G c.1044C>G (p.Phe348Leu) | |
19 | g.18594349G>T | CA404850237 | CRLF1 | c.1110C>A (p.Phe370Leu) n.87C>A c.1044C>A (p.Phe348Leu) | COSMIC |
19 | g.18594350A>C | CA404850238 | CRLF1 | c.1109T>G (p.Phe370Cys) n.86T>G c.1043T>G (p.Phe348Cys) | |
19 | g.18594350A>G | CA404850239 | CRLF1 | c.1109T>C (p.Phe370Ser) n.86T>C c.1043T>C (p.Phe348Ser) | |
19 | g.18594350A>T | CA404850240 | CRLF1 | c.1109T>A (p.Phe370Tyr) n.86T>A c.1043T>A (p.Phe348Tyr) | |
19 | g.18594351A= | CA2326431055 | CRLF1 | c.1108T= (p.Phe370=) n.85T= c.1042T= (p.Phe348=) | |
19 | g.18594351A>C | CA404850241 | CRLF1 | c.1108T>G (p.Phe370Val) n.85T>G c.1042T>G (p.Phe348Val) | |
19 | g.18594351A>G | CA404850242 | CRLF1 | c.1108T>C (p.Phe370Leu) n.85T>C c.1042T>C (p.Phe348Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18594351A>T | CA404850243 | CRLF1 | c.1108T>A (p.Phe370Ile) n.85T>A c.1042T>A (p.Phe348Ile) | |
19 | g.18594352C>A | CA404850244 | CRLF1 | c.1107G>T (p.Gln369His) n.84G>T c.1041G>T (p.Gln347His) | dbSNP gnomAD v4 |
19 | g.18594352C= | CA2326431056 | CRLF1 | c.1107G= (p.Gln369=) n.84G= c.1041G= (p.Gln347=) | |
19 | g.18594352C>G | CA404850245 | CRLF1 | c.1107G>C (p.Gln369His) n.84G>C c.1041G>C (p.Gln347His) | |
19 | g.18594352C>T | CA506044099 | CRLF1 | c.1107G>A (p.Gln369=) n.84G>A c.1041G>A (p.Gln347=) | |
19 | g.18594353T>A | CA404850247 | CRLF1 | c.1106A>T (p.Gln369Leu) n.83A>T c.1040A>T (p.Gln347Leu) | |
19 | g.18594353T>C | CA404850248 | CRLF1 | c.1106A>G (p.Gln369Arg) n.83A>G c.1040A>G (p.Gln347Arg) | gnomAD v4 |
19 | g.18594353T>G | CA404850246 | CRLF1 | c.1106A>C (p.Gln369Pro) n.83A>C c.1040A>C (p.Gln347Pro) | |
19 | g.18594354G>A | CA404850249 | CRLF1 | c.1105C>T (p.Gln369Ter) n.82C>T c.1039C>T (p.Gln347Ter) | |
19 | g.18594354G>C | CA404850250 | CRLF1 | c.1105C>G (p.Gln369Glu) n.82C>G c.1039C>G (p.Gln347Glu) | |
19 | g.18594354G>T | CA404850251 | CRLF1 | c.1105C>A (p.Gln369Lys) n.82C>A c.1039C>A (p.Gln347Lys) | |
19 | g.18594355C>A | CA404850252 | CRLF1 | c.1104G>T (p.Lys368Asn) n.81G>T c.1038G>T (p.Lys346Asn) | |
19 | g.18594355C>G | CA404850253 | CRLF1 | c.1104G>C (p.Lys368Asn) n.81G>C c.1038G>C (p.Lys346Asn) | |
19 | g.18594355C>T | CA506044100 | CRLF1 | c.1104G>A (p.Lys368=) n.81G>A c.1038G>A (p.Lys346=) | gnomAD v4 |
19 | g.18594356T>A | CA404850256 | CRLF1 | c.1103A>T (p.Lys368Met) n.80A>T c.1037A>T (p.Lys346Met) | gnomAD v4 |
19 | g.18594356T>C | CA404850255 | CRLF1 | c.1103A>G (p.Lys368Arg) n.80A>G c.1037A>G (p.Lys346Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18594356T>G | CA404850254 | CRLF1 | c.1103A>C (p.Lys368Thr) n.80A>C c.1037A>C (p.Lys346Thr) | |
19 | g.18594356T= | CA2326431057 | CRLF1 | c.1103A= (p.Lys368=) n.80A= c.1037A= (p.Lys346=) | |
19 | g.18594357T>A | CA253575 | CRLF1 | c.1102A>T (p.Lys368Ter) n.79A>T c.1036A>T (p.Lys346Ter) | ClinVar dbSNP |
19 | g.18594357T>C | CA404850257 | CRLF1 | c.1102A>G (p.Lys368Glu) n.79A>G c.1036A>G (p.Lys346Glu) | |
19 | g.18594357T>G | CA404850258 | CRLF1 | c.1102A>C (p.Lys368Gln) n.79A>C c.1036A>C (p.Lys346Gln) | |
19 | g.18594357T= | CA2326431058 | CRLF1 | c.1102A= (p.Lys368=) n.79A= c.1036A= (p.Lys346=) | |
19 | g.18594358G>A | CA506044101 | CRLF1 | c.1101C>T (p.Leu367=) n.78C>T c.1035C>T (p.Leu345=) | dbSNP gnomAD v4 |
19 | g.18594358G>C | CA506044102 | CRLF1 | c.1101C>G (p.Leu367=) n.78C>G c.1035C>G (p.Leu345=) | |
19 | g.18594358G= | CA2326431059 | CRLF1 | c.1101C= (p.Leu367=) n.78C= c.1035C= (p.Leu345=) | |
19 | g.18594358G>T | CA506044103 | CRLF1 | c.1101C>A (p.Leu367=) n.78C>A c.1035C>A (p.Leu345=) | |
19 | g.18594359A>C | CA404850259 | CRLF1 | c.1100T>G (p.Leu367Arg) n.77T>G c.1034T>G (p.Leu345Arg) | |
19 | g.18594359A>G | CA404850260 | CRLF1 | c.1100T>C (p.Leu367Pro) n.77T>C c.1034T>C (p.Leu345Pro) | |
19 | g.18594359A>T | CA404850261 | CRLF1 | c.1100T>A (p.Leu367His) n.77T>A c.1034T>A (p.Leu345His) | |
19 | g.18594360G>A | CA9313999 | CRLF1 | c.1099C>T (p.Leu367Phe) n.76C>T c.1033C>T (p.Leu345Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18594360G>C | CA404850263 | CRLF1 | c.1099C>G (p.Leu367Val) n.76C>G c.1033C>G (p.Leu345Val) | gnomAD v4 |
19 | g.18594360G= | CA2326431060 | CRLF1 | c.1099C= (p.Leu367=) n.76C= c.1033C= (p.Leu345=) | |
19 | g.18594360G>T | CA404850262 | CRLF1 | c.1099C>A (p.Leu367Ile) n.76C>A c.1033C>A (p.Leu345Ile) | |
19 | g.18594361C>A | CA404850264 | CRLF1 | c.1098G>T (p.Glu366Asp) n.75G>T c.1032G>T (p.Glu344Asp) | |
19 | g.18594361C>G | CA404850265 | CRLF1 | c.1098G>C (p.Glu366Asp) n.75G>C c.1032G>C (p.Glu344Asp) | gnomAD v4 |
19 | g.18594361C>T | CA506044104 | CRLF1 | c.1098G>A (p.Glu366=) n.75G>A c.1032G>A (p.Glu344=) | gnomAD v4 |