Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135789641_135789652dup | CA2577107653 | LCT | c.5484_5495dup (p.Ala1832_Ser1833insLysPheTyrAla) | gnomAD v4 |
2 | g.135789641G>A | CA1887606 | LCT | c.5493C>T (p.Tyr1831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789641G>C | CA348586224 | LCT | c.5493C>G (p.Tyr1831Ter) | |
2 | g.135789641G= | CA1290822677 | LCT | c.5493C= (p.Tyr1831=) | |
2 | g.135789641G>T | CA348586226 | LCT | c.5493C>A (p.Tyr1831Ter) | |
2 | g.135789642T>A | CA348586230 | LCT | c.5492A>T (p.Tyr1831Phe) | |
2 | g.135789642T>C | CA1887607 | LCT | c.5492A>G (p.Tyr1831Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135789642T>G | CA348586232 | LCT | c.5492A>C (p.Tyr1831Ser) | |
2 | g.135789642T= | CA1290822678 | LCT | c.5492A= (p.Tyr1831=) | |
2 | g.135789643A>C | CA348586235 | LCT | c.5491T>G (p.Tyr1831Asp) | |
2 | g.135789643A>G | CA348586238 | LCT | c.5491T>C (p.Tyr1831His) | |
2 | g.135789643A>T | CA348586240 | LCT | c.5491T>A (p.Tyr1831Asn) | |
2 | g.135789644G>A | CA429085042 | LCT | c.5490C>T (p.Phe1830=) | |
2 | g.135789644G>C | CA348586246 | LCT | c.5490C>G (p.Phe1830Leu) | |
2 | g.135789644G>T | CA348586244 | LCT | c.5490C>A (p.Phe1830Leu) | |
2 | g.135789645A>C | CA348586250 | LCT | c.5489T>G (p.Phe1830Cys) | |
2 | g.135789645A>G | CA348586253 | LCT | c.5489T>C (p.Phe1830Ser) | |
2 | g.135789645A>T | CA348586251 | LCT | c.5489T>A (p.Phe1830Tyr) | |
2 | g.135789646A>C | CA348586256 | LCT | c.5488T>G (p.Phe1830Val) | |
2 | g.135789646A>G | CA348586259 | LCT | c.5488T>C (p.Phe1830Leu) | |
2 | g.135789646A>T | CA348586261 | LCT | c.5488T>A (p.Phe1830Ile) | |
2 | g.135789647C>A | CA348586265 | LCT | c.5487G>T (p.Lys1829Asn) | COSMIC |
2 | g.135789647C>G | CA348586267 | LCT | c.5487G>C (p.Lys1829Asn) | |
2 | g.135789647C>T | CA429085046 | LCT | c.5487G>A (p.Lys1829=) | |
2 | g.135789648T>A | CA348586270 | LCT | c.5486A>T (p.Lys1829Met) | |
2 | g.135789648T>C | CA1887608 | LCT | c.5486A>G (p.Lys1829Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789648T>G | CA348586275 | LCT | c.5486A>C (p.Lys1829Thr) | |
2 | g.135789648T= | CA1290822679 | LCT | c.5486A= (p.Lys1829=) | |
2 | g.135789649T>A | CA348586278 | LCT | c.5485A>T (p.Lys1829Ter) | |
2 | g.135789649T>C | CA348586280 | LCT | c.5485A>G (p.Lys1829Glu) | |
2 | g.135789649T>G | CA348586283 | LCT | c.5485A>C (p.Lys1829Gln) | |
2 | g.135789650C>A | CA429085051 | LCT | c.5484G>T (p.Ala1828=) | |
2 | g.135789650C= | CA1290822680 | LCT | c.5484G= (p.Ala1828=) | |
2 | g.135789650C>G | CA429085052 | LCT | c.5484G>C (p.Ala1828=) | |
2 | g.135789650C>T | CA1887609 | LCT | c.5484G>A (p.Ala1828=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.135789651G>A | CA1887610 | LCT | c.5483C>T (p.Ala1828Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789651G>C | CA348586292 | LCT | c.5483C>G (p.Ala1828Gly) | |
2 | g.135789651G= | CA1290822681 | LCT | c.5483C= (p.Ala1828=) | |
2 | g.135789651G>T | CA348586289 | LCT | c.5483C>A (p.Ala1828Glu) | |
2 | g.135789652C>A | CA348586297 | LCT | c.5482G>T (p.Ala1828Ser) | |
2 | g.135789652C= | CA1290822682 | LCT | c.5482G= (p.Ala1828=) | |
2 | g.135789652C>G | CA348586300 | LCT | c.5482G>C (p.Ala1828Pro) | |
2 | g.135789652C>T | CA1887611 | LCT | c.5482G>A (p.Ala1828Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789653T>A | CA429085055 | LCT | c.5481A>T (p.Ser1827=) | |
2 | g.135789653T>C | CA429085056 | LCT | c.5481A>G (p.Ser1827=) | |
2 | g.135789653T>G | CA429085058 | LCT | c.5481A>C (p.Ser1827=) | |
2 | g.135789654G>A | CA348586306 | LCT | c.5480C>T (p.Ser1827Leu) | |
2 | g.135789654G>C | CA348586308 | LCT | c.5480C>G (p.Ser1827Ter) | |
2 | g.135789654G>T | CA348586310 | LCT | c.5480C>A (p.Ser1827Ter) | |
2 | g.135789655A>C | CA348586314 | LCT | c.5479T>G (p.Ser1827Ala) |