Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7150497_7152928del | CA658684219 | INSR | c.2030_2267+1del c.2030_2231+2230del c.2108_2345+1del c.2108_2309+2230del | ClinVar |
19 | g.7150499_7152929del | CA916084117 | INSR | c.2031_2267+1del c.2031_2231+2230del c.2109_2345+1del c.2109_2309+2230del | |
19 | g.7152862G>A | CA124217 | INSR | c.2095C>T (p.Gln699Ter) n.2070C>T c.2173C>T (p.Gln725Ter) | ClinVar dbSNP |
19 | g.7152862G>C | CA9135666 | INSR | c.2095C>G (p.Gln699Glu) n.2070C>G c.2173C>G (p.Gln725Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7152862G= | CA2320781047 | INSR | c.2095C= (p.Gln699=) n.2070C= c.2173C= (p.Gln725=) | |
19 | g.7152862G>T | CA403664603 | INSR | c.2095C>A (p.Gln699Lys) n.2070C>A c.2173C>A (p.Gln725Lys) | |
19 | g.7152863G>A | CA505196411 | INSR | c.2094C>T (p.Asn698=) n.2069C>T c.2172C>T (p.Asn724=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152863G>C | CA403664604 | INSR | c.2094C>G (p.Asn698Lys) n.2069C>G c.2172C>G (p.Asn724Lys) | |
19 | g.7152863G= | CA2320781048 | INSR | c.2094C= (p.Asn698=) n.2069C= c.2172C= (p.Asn724=) | |
19 | g.7152863G>T | CA403664605 | INSR | c.2094C>A (p.Asn698Lys) n.2069C>A c.2172C>A (p.Asn724Lys) | |
19 | g.7152864T>A | CA403664606 | INSR | c.2093A>T (p.Asn698Ile) n.2068A>T c.2171A>T (p.Asn724Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7152864T>C | CA403664607 | INSR | c.2093A>G (p.Asn698Ser) n.2068A>G c.2171A>G (p.Asn724Ser) | |
19 | g.7152864T>G | CA403664608 | INSR | c.2093A>C (p.Asn698Thr) n.2068A>C c.2171A>C (p.Asn724Thr) | |
19 | g.7152864T= | CA2320781049 | INSR | c.2093A= (p.Asn698=) n.2068A= c.2171A= (p.Asn724=) | |
19 | g.7152865T>A | CA403664609 | INSR | c.2092A>T (p.Asn698Tyr) n.2067A>T c.2170A>T (p.Asn724Tyr) | |
19 | g.7152865T>C | CA403664610 | INSR | c.2092A>G (p.Asn698Asp) n.2067A>G c.2170A>G (p.Asn724Asp) | |
19 | g.7152865T>G | CA403664611 | INSR | c.2092A>C (p.Asn698His) n.2067A>C c.2170A>C (p.Asn724His) | |
19 | g.7152866G>A | CA505196422 | INSR | c.2091C>T (p.His697=) n.2066C>T c.2169C>T (p.His723=) | |
19 | g.7152866G>C | CA403664612 | INSR | c.2091C>G (p.His697Gln) n.2066C>G c.2169C>G (p.His723Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152866G= | CA2320781050 | INSR | c.2091C= (p.His697=) n.2066C= c.2169C= (p.His723=) | |
19 | g.7152866G>T | CA403664613 | INSR | c.2091C>A (p.His697Gln) n.2066C>A c.2169C>A (p.His723Gln) | |
19 | g.7152867T>A | CA403664616 | INSR | c.2090A>T (p.His697Leu) n.2065A>T c.2168A>T (p.His723Leu) | |
19 | g.7152867T>C | CA403664615 | INSR | c.2090A>G (p.His697Arg) n.2065A>G c.2168A>G (p.His723Arg) | |
19 | g.7152867T>G | CA403664614 | INSR | c.2090A>C (p.His697Pro) n.2065A>C c.2168A>C (p.His723Pro) | |
19 | g.7152868G>A | CA403664617 | INSR | c.2089C>T (p.His697Tyr) n.2064C>T c.2167C>T (p.His723Tyr) | |
19 | g.7152868G>C | CA403664618 | INSR | c.2089C>G (p.His697Asp) n.2064C>G c.2167C>G (p.His723Asp) | |
19 | g.7152868G>T | CA403664619 | INSR | c.2089C>A (p.His697Asn) n.2064C>A c.2167C>A (p.His723Asn) | |
19 | g.7152869C>A | CA403664620 | INSR | c.2088G>T (p.Lys696Asn) n.2063G>T c.2166G>T (p.Lys722Asn) | |
19 | g.7152869C= | CA2320781051 | INSR | c.2088G= (p.Lys696=) n.2063G= c.2166G= (p.Lys722=) | |
19 | g.7152869C>G | CA403664621 | INSR | c.2088G>C (p.Lys696Asn) n.2063G>C c.2166G>C (p.Lys722Asn) | dbSNP |
19 | g.7152869C>T | CA505196436 | INSR | c.2088G>A (p.Lys696=) n.2063G>A c.2166G>A (p.Lys722=) | |
19 | g.7152870T>A | CA403664622 | INSR | c.2087A>T (p.Lys696Met) n.2062A>T c.2165A>T (p.Lys722Met) | |
19 | g.7152870T>C | CA403664623 | INSR | c.2087A>G (p.Lys696Arg) n.2062A>G c.2165A>G (p.Lys722Arg) | |
19 | g.7152870T>G | CA403664624 | INSR | c.2087A>C (p.Lys696Thr) n.2062A>C c.2165A>C (p.Lys722Thr) | |
19 | g.7152871T>A | CA9135669 | INSR | c.2086A>T (p.Lys696Ter) n.2061A>T c.2164A>T (p.Lys722Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152871T>C | CA9135668 | INSR | c.2086A>G (p.Lys696Glu) n.2061A>G c.2164A>G (p.Lys722Glu) | dbSNP ExAC gnomAD v2 |
19 | g.7152871T>G | CA9135667 | INSR | c.2086A>C (p.Lys696Gln) n.2061A>C c.2164A>C (p.Lys722Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7152871T= | CA2320781052 | INSR | c.2086A= (p.Lys696=) n.2061A= c.2164A= (p.Lys722=) | |
19 | g.7152872C>A | CA403664625 | INSR | c.2085G>T (p.Gln695His) n.2060G>T c.2163G>T (p.Gln721His) | |
19 | g.7152872C>G | CA403664626 | INSR | c.2085G>C (p.Gln695His) n.2060G>C c.2163G>C (p.Gln721His) | |
19 | g.7152872C>T | CA505196447 | INSR | c.2085G>A (p.Gln695=) n.2060G>A c.2163G>A (p.Gln721=) | gnomAD v4 |
19 | g.7152873T>A | CA403664628 | INSR | c.2084A>T (p.Gln695Leu) n.2059A>T c.2162A>T (p.Gln721Leu) | |
19 | g.7152873T>C | CA9135670 | INSR | c.2084A>G (p.Gln695Arg) n.2059A>G c.2162A>G (p.Gln721Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152873T>G | CA403664627 | INSR | c.2084A>C (p.Gln695Pro) n.2059A>C c.2162A>C (p.Gln721Pro) | |
19 | g.7152873T= | CA2320781053 | INSR | c.2084A= (p.Gln695=) n.2059A= c.2162A= (p.Gln721=) | |
19 | g.7152874G>A | CA403664630 | INSR | c.2083C>T (p.Gln695Ter) n.2058C>T c.2161C>T (p.Gln721Ter) | |
19 | g.7152874G>C | CA403664629 | INSR | c.2083C>G (p.Gln695Glu) n.2058C>G c.2161C>G (p.Gln721Glu) | |
19 | g.7152874G>T | CA403664631 | INSR | c.2083C>A (p.Gln695Lys) n.2058C>A c.2161C>A (p.Gln721Lys) | |
19 | g.7152876_7152877del | CA2576595223 | INSR | c.2082_2083del (p.Gln695GlufsTer6) n.2057_2058del c.2160_2161del (p.Gln721GlufsTer6) | |
19 | g.7152875A>C | CA505196462 | INSR | c.2082T>G (p.Ser694=) n.2057T>G c.2160T>G (p.Ser720=) |