Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18075805_18075808delinsAGCT | CA2326172891 | IL12RB1 | c.641_644delinsAGCT (p.Gln214=) c.761_764delinsAGCT (p.Gln254=) c.773_776delinsAGCT (p.Gln258=) c.653_656delinsAGCT (p.Gln218=) c.38_41delinsAGCT (p.Gln13=) | |
19 | g.18075805_18075821dup | CA2695228486 | IL12RB1 | c.628_644dup (p.Gly216SerfsTer32) c.748_764dup (p.Gly256SerfsTer32) c.760_776dup (p.Gly260SerfsTer29) c.748_764dup (p.Gly256SerfsTer29) c.760_776dup (p.Gly260SerfsTer32) c.640_656dup (p.Gly220SerfsTer29) c.628_644dup (p.Gly216SerfsTer29) c.25_41dup (p.Gly15SerfsTer29) | |
19 | g.18075808_18075810del | CA9305127 | IL12RB1 | c.641_643del (p.Gln214del) c.761_763del (p.Gln254del) c.773_775del (p.Gln258del) c.653_655del (p.Gln218del) c.38_40del (p.Gln13del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18075808T>A | CA404781565 | IL12RB1 | c.641A>T (p.Gln214Leu) c.761A>T (p.Gln254Leu) c.773A>T (p.Gln258Leu) c.653A>T (p.Gln218Leu) c.38A>T (p.Gln13Leu) | |
19 | g.18075808T>C | CA9305128 | IL12RB1 | c.641A>G (p.Gln214Arg) c.761A>G (p.Gln254Arg) c.773A>G (p.Gln258Arg) c.653A>G (p.Gln218Arg) c.38A>G (p.Gln13Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075808T>G | CA404781566 | IL12RB1 | c.641A>C (p.Gln214Pro) c.761A>C (p.Gln254Pro) c.773A>C (p.Gln258Pro) c.653A>C (p.Gln218Pro) c.38A>C (p.Gln13Pro) | |
19 | g.18075808T= | CA2326172904 | IL12RB1 | c.641A= (p.Gln214=) c.761A= (p.Gln254=) c.773A= (p.Gln258=) c.653A= (p.Gln218=) c.38A= (p.Gln13=) | |
19 | g.18075808_18075811delinsTGCC | CA2326172901 | IL12RB1 | c.638_641delinsGGCA (p.Arg213=) c.758_761delinsGGCA (p.Arg253=) c.770_773delinsGGCA (p.Arg257=) c.650_653delinsGGCA (p.Arg217=) c.35_38delinsGGCA (p.Arg12=) | |
19 | g.18075809G>A | CA306164088 | IL12RB1 | c.640C>T (p.Gln214Ter) c.760C>T (p.Gln254Ter) c.772C>T (p.Gln258Ter) c.652C>T (p.Gln218Ter) c.37C>T (p.Gln13Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075809G>C | CA404781568 | IL12RB1 | c.640C>G (p.Gln214Glu) c.760C>G (p.Gln254Glu) c.772C>G (p.Gln258Glu) c.652C>G (p.Gln218Glu) c.37C>G (p.Gln13Glu) | |
19 | g.18075809G= | CA2326172909 | IL12RB1 | c.640C= (p.Gln214=) c.760C= (p.Gln254=) c.772C= (p.Gln258=) c.652C= (p.Gln218=) c.37C= (p.Gln13=) | |
19 | g.18075809G>T | CA404781570 | IL12RB1 | c.640C>A (p.Gln214Lys) c.760C>A (p.Gln254Lys) c.772C>A (p.Gln258Lys) c.652C>A (p.Gln218Lys) c.37C>A (p.Gln13Lys) | |
19 | g.18075810_18075812del | CA632093974 | IL12RB1 | c.638_640del (p.Arg213del) c.758_760del (p.Arg253del) c.770_772del (p.Arg257del) c.650_652del (p.Arg217del) c.35_37del (p.Arg12del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075810C>A | CA506032469 | IL12RB1 | c.639G>T (p.Arg213=) c.759G>T (p.Arg253=) c.771G>T (p.Arg257=) c.651G>T (p.Arg217=) c.36G>T (p.Arg12=) | |
19 | g.18075810C= | CA2326172914 | IL12RB1 | c.639G= (p.Arg213=) c.759G= (p.Arg253=) c.771G= (p.Arg257=) c.651G= (p.Arg217=) c.36G= (p.Arg12=) | |
19 | g.18075810C>G | CA506032470 | IL12RB1 | c.639G>C (p.Arg213=) c.759G>C (p.Arg253=) c.771G>C (p.Arg257=) c.651G>C (p.Arg217=) c.36G>C (p.Arg12=) | |
19 | g.18075810C>T | CA9305129 | IL12RB1 | c.639G>A (p.Arg213=) c.759G>A (p.Arg253=) c.771G>A (p.Arg257=) c.651G>A (p.Arg217=) c.36G>A (p.Arg12=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075811del | CA2576772551 | IL12RB1 | c.639del (p.Gln214SerfsTer28) c.759del (p.Gln254SerfsTer28) c.771del (p.Gln258SerfsTer25) c.759del (p.Gln254SerfsTer25) c.771del (p.Gln258SerfsTer28) c.651del (p.Gln218SerfsTer25) c.639del (p.Gln214SerfsTer25) c.36del (p.Gln13SerfsTer25) | |
19 | g.18075811C>A | CA404781580 | IL12RB1 | c.638G>T (p.Arg213Leu) c.758G>T (p.Arg253Leu) c.770G>T (p.Arg257Leu) c.650G>T (p.Arg217Leu) c.35G>T (p.Arg12Leu) | |
19 | g.18075811C= | CA2326172917 | IL12RB1 | c.638G= (p.Arg213=) c.758G= (p.Arg253=) c.770G= (p.Arg257=) c.650G= (p.Arg217=) c.35G= (p.Arg12=) | |
19 | g.18075811C>G | CA404781582 | IL12RB1 | c.638G>C (p.Arg213Pro) c.758G>C (p.Arg253Pro) c.770G>C (p.Arg257Pro) c.650G>C (p.Arg217Pro) c.35G>C (p.Arg12Pro) | |
19 | g.18075811C>T | CA9305130 | IL12RB1 | c.638G>A (p.Arg213Gln) c.758G>A (p.Arg253Gln) c.770G>A (p.Arg257Gln) c.650G>A (p.Arg217Gln) c.35G>A (p.Arg12Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075812G>A | CA119245 | IL12RB1 | c.637C>T (p.Arg213Trp) c.757C>T (p.Arg253Trp) c.769C>T (p.Arg257Trp) c.649C>T (p.Arg217Trp) c.34C>T (p.Arg12Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.18075812G>C | CA404781593 | IL12RB1 | c.637C>G (p.Arg213Gly) c.757C>G (p.Arg253Gly) c.769C>G (p.Arg257Gly) c.649C>G (p.Arg217Gly) c.34C>G (p.Arg12Gly) | |
19 | g.18075812G= | CA2326172922 | IL12RB1 | c.637C= (p.Arg213=) c.757C= (p.Arg253=) c.769C= (p.Arg257=) c.649C= (p.Arg217=) c.34C= (p.Arg12=) | |
19 | g.18075812G>T | CA506032481 | IL12RB1 | c.637C>A (p.Arg213=) c.757C>A (p.Arg253=) c.769C>A (p.Arg257=) c.649C>A (p.Arg217=) c.34C>A (p.Arg12=) | |
19 | g.18075813T>A | CA506032484 | IL12RB1 | c.636A>T (p.Arg212=) c.756A>T (p.Arg252=) c.768A>T (p.Arg256=) c.648A>T (p.Arg216=) c.33A>T (p.Arg11=) | |
19 | g.18075813T>C | CA506032486 | IL12RB1 | c.636A>G (p.Arg212=) c.756A>G (p.Arg252=) c.768A>G (p.Arg256=) c.648A>G (p.Arg216=) c.33A>G (p.Arg11=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.18075813T>G | CA506032488 | IL12RB1 | c.636A>C (p.Arg212=) c.756A>C (p.Arg252=) c.768A>C (p.Arg256=) c.648A>C (p.Arg216=) c.33A>C (p.Arg11=) | |
19 | g.18075813T= | CA2326172926 | IL12RB1 | c.636A= (p.Arg212=) c.756A= (p.Arg252=) c.768A= (p.Arg256=) c.648A= (p.Arg216=) c.33A= (p.Arg11=) | |
19 | g.18075814C>A | CA404781596 | IL12RB1 | c.635G>T (p.Arg212Leu) c.755G>T (p.Arg252Leu) c.767G>T (p.Arg256Leu) c.647G>T (p.Arg216Leu) c.32G>T (p.Arg11Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075814C= | CA2326172929 | IL12RB1 | c.635G= (p.Arg212=) c.755G= (p.Arg252=) c.767G= (p.Arg256=) c.647G= (p.Arg216=) c.32G= (p.Arg11=) | |
19 | g.18075814C>G | CA404781599 | IL12RB1 | c.635G>C (p.Arg212Pro) c.755G>C (p.Arg252Pro) c.767G>C (p.Arg256Pro) c.647G>C (p.Arg216Pro) c.32G>C (p.Arg11Pro) | |
19 | g.18075814C>T | CA9305131 | IL12RB1 | c.635G>A (p.Arg212Gln) c.755G>A (p.Arg252Gln) c.767G>A (p.Arg256Gln) c.647G>A (p.Arg216Gln) c.32G>A (p.Arg11Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.18075815G>A | CA9305132 | IL12RB1 | c.634C>T (p.Arg212Ter) c.754C>T (p.Arg252Ter) c.766C>T (p.Arg256Ter) c.646C>T (p.Arg216Ter) c.31C>T (p.Arg11Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18075815G>C | CA404781604 | IL12RB1 | c.634C>G (p.Arg212Gly) c.754C>G (p.Arg252Gly) c.766C>G (p.Arg256Gly) c.646C>G (p.Arg216Gly) c.31C>G (p.Arg11Gly) | |
19 | g.18075815G= | CA2326172935 | IL12RB1 | c.634C= (p.Arg212=) c.754C= (p.Arg252=) c.766C= (p.Arg256=) c.646C= (p.Arg216=) c.31C= (p.Arg11=) | |
19 | g.18075815G>T | CA506032502 | IL12RB1 | c.634C>A (p.Arg212=) c.754C>A (p.Arg252=) c.766C>A (p.Arg256=) c.646C>A (p.Arg216=) c.31C>A (p.Arg11=) | |
19 | g.18075815_18075816delinsGT | CA2326172933 | IL12RB1 | c.633_634delinsAC (p.Arg211=) c.753_754delinsAC (p.Arg251=) c.765_766delinsAC (p.Arg255=) c.645_646delinsAC (p.Arg215=) c.30_31delinsAC (p.Arg10=) | |
19 | g.18075816del | CA306164097 | IL12RB1 | c.633del (p.Arg212AspfsTer?) c.753del (p.Arg252AspfsTer?) c.765del (p.Arg256AspfsTer27) c.753del (p.Arg252AspfsTer27) c.765del (p.Arg256AspfsTer?) c.645del (p.Arg216AspfsTer27) c.633del (p.Arg212AspfsTer27) c.30del (p.Arg11AspfsTer27) | dbSNP |
19 | g.18075816T>A | CA306164096 | IL12RB1 | c.633A>T (p.Arg211=) c.753A>T (p.Arg251=) c.765A>T (p.Arg255=) c.645A>T (p.Arg215=) c.30A>T (p.Arg10=) | dbSNP |
19 | g.18075816T>C | CA506032509 | IL12RB1 | c.633A>G (p.Arg211=) c.753A>G (p.Arg251=) c.765A>G (p.Arg255=) c.645A>G (p.Arg215=) c.30A>G (p.Arg10=) | |
19 | g.18075816T>G | CA506032505 | IL12RB1 | c.633A>C (p.Arg211=) c.753A>C (p.Arg251=) c.765A>C (p.Arg255=) c.645A>C (p.Arg215=) c.30A>C (p.Arg10=) | |
19 | g.18075816T= | CA2326172938 | IL12RB1 | c.633A= (p.Arg211=) c.753A= (p.Arg251=) c.765A= (p.Arg255=) c.645A= (p.Arg215=) c.30A= (p.Arg10=) | |
19 | g.18075817C>A | CA404781606 | IL12RB1 | c.632G>T (p.Arg211Leu) c.752G>T (p.Arg251Leu) c.764G>T (p.Arg255Leu) c.644G>T (p.Arg215Leu) c.29G>T (p.Arg10Leu) | |
19 | g.18075817C= | CA2326172941 | IL12RB1 | c.632G= (p.Arg211=) c.752G= (p.Arg251=) c.764G= (p.Arg255=) c.644G= (p.Arg215=) c.29G= (p.Arg10=) | |
19 | g.18075817C>G | CA9305133 | IL12RB1 | c.632G>C (p.Arg211Pro) c.752G>C (p.Arg251Pro) c.764G>C (p.Arg255Pro) c.644G>C (p.Arg215Pro) c.29G>C (p.Arg10Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075817C>T | CA9305134 | IL12RB1 | c.632G>A (p.Arg211Gln) c.752G>A (p.Arg251Gln) c.764G>A (p.Arg255Gln) c.644G>A (p.Arg215Gln) c.29G>A (p.Arg10Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18075818G>A | CA9305135 | IL12RB1 | c.631C>T (p.Arg211Ter) c.751C>T (p.Arg251Ter) c.763C>T (p.Arg255Ter) c.643C>T (p.Arg215Ter) c.28C>T (p.Arg10Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.18075818G>C | CA404781613 | IL12RB1 | c.631C>G (p.Arg211Gly) c.751C>G (p.Arg251Gly) c.763C>G (p.Arg255Gly) c.643C>G (p.Arg215Gly) c.28C>G (p.Arg10Gly) |