Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) | |
19 | g.18075818G= | CA2326172944 | IL12RB1 | c.631C= (p.Arg211=) c.751C= (p.Arg251=) c.763C= (p.Arg255=) c.643C= (p.Arg215=) c.28C= (p.Arg10=) | |
19 | g.18075818G>T | CA506032523 | IL12RB1 | c.631C>A (p.Arg211=) c.751C>A (p.Arg251=) c.763C>A (p.Arg255=) c.643C>A (p.Arg215=) c.28C>A (p.Arg10=) | gnomAD v4 |
19 | g.18075819G>A | CA506032525 | IL12RB1 | c.630C>T (p.Leu210=) c.750C>T (p.Leu250=) c.762C>T (p.Leu254=) c.642C>T (p.Leu214=) c.27C>T (p.Leu9=) | COSMIC COSMIC COSMIC |
19 | g.18075819G>C | CA506032527 | IL12RB1 | c.630C>G (p.Leu210=) c.750C>G (p.Leu250=) c.762C>G (p.Leu254=) c.642C>G (p.Leu214=) c.27C>G (p.Leu9=) | |
19 | g.18075819G>T | CA506032530 | IL12RB1 | c.630C>A (p.Leu210=) c.750C>A (p.Leu250=) c.762C>A (p.Leu254=) c.642C>A (p.Leu214=) c.27C>A (p.Leu9=) | |
19 | g.18075820A>C | CA404781616 | IL12RB1 | c.629T>G (p.Leu210Arg) c.749T>G (p.Leu250Arg) c.761T>G (p.Leu254Arg) c.641T>G (p.Leu214Arg) c.26T>G (p.Leu9Arg) | |
19 | g.18075820A>G | CA404781618 | IL12RB1 | c.629T>C (p.Leu210Pro) c.749T>C (p.Leu250Pro) c.761T>C (p.Leu254Pro) c.641T>C (p.Leu214Pro) c.26T>C (p.Leu9Pro) | |
19 | g.18075820A>T | CA404781620 | IL12RB1 | c.629T>A (p.Leu210His) c.749T>A (p.Leu250His) c.761T>A (p.Leu254His) c.641T>A (p.Leu214His) c.26T>A (p.Leu9His) | |
19 | g.18075821G>A | CA404781623 | IL12RB1 | c.628C>T (p.Leu210Phe) c.748C>T (p.Leu250Phe) c.760C>T (p.Leu254Phe) c.640C>T (p.Leu214Phe) c.25C>T (p.Leu9Phe) | |
19 | g.18075821G>C | CA404781625 | IL12RB1 | c.628C>G (p.Leu210Val) c.748C>G (p.Leu250Val) c.760C>G (p.Leu254Val) c.640C>G (p.Leu214Val) c.25C>G (p.Leu9Val) | |
19 | g.18075821G>T | CA404781628 | IL12RB1 | c.628C>A (p.Leu210Ile) c.748C>A (p.Leu250Ile) c.760C>A (p.Leu254Ile) c.640C>A (p.Leu214Ile) c.25C>A (p.Leu9Ile) | |
19 | g.18075822C>A | CA404781630 | IL12RB1 | c.627G>T (p.Gln209His) c.747G>T (p.Gln249His) c.759G>T (p.Gln253His) c.639G>T (p.Gln213His) c.24G>T (p.Gln8His) | |
19 | g.18075822C>G | CA404781632 | IL12RB1 | c.627G>C (p.Gln209His) c.747G>C (p.Gln249His) c.759G>C (p.Gln253His) c.639G>C (p.Gln213His) c.24G>C (p.Gln8His) | |
19 | g.18075822C>T | CA506032546 | IL12RB1 | c.627G>A (p.Gln209=) c.747G>A (p.Gln249=) c.759G>A (p.Gln253=) c.639G>A (p.Gln213=) c.24G>A (p.Gln8=) | |
19 | g.18075823T>A | CA404781639 | IL12RB1 | c.626A>T (p.Gln209Leu) c.746A>T (p.Gln249Leu) c.758A>T (p.Gln253Leu) c.638A>T (p.Gln213Leu) c.23A>T (p.Gln8Leu) | |
19 | g.18075823T>C | CA404781635 | IL12RB1 | c.626A>G (p.Gln209Arg) c.746A>G (p.Gln249Arg) c.758A>G (p.Gln253Arg) c.638A>G (p.Gln213Arg) c.23A>G (p.Gln8Arg) | |
19 | g.18075823T>G | CA404781637 | IL12RB1 | c.626A>C (p.Gln209Pro) c.746A>C (p.Gln249Pro) c.758A>C (p.Gln253Pro) c.638A>C (p.Gln213Pro) c.23A>C (p.Gln8Pro) | |
19 | g.18075824G>A | CA404781642 | IL12RB1 | c.625C>T (p.Gln209Ter) c.745C>T (p.Gln249Ter) c.757C>T (p.Gln253Ter) c.637C>T (p.Gln213Ter) c.22C>T (p.Gln8Ter) | |
19 | g.18075824G>C | CA404781645 | IL12RB1 | c.625C>G (p.Gln209Glu) c.745C>G (p.Gln249Glu) c.757C>G (p.Gln253Glu) c.637C>G (p.Gln213Glu) c.22C>G (p.Gln8Glu) | |
19 | g.18075824G>T | CA404781650 | IL12RB1 | c.625C>A (p.Gln209Lys) c.745C>A (p.Gln249Lys) c.757C>A (p.Gln253Lys) c.637C>A (p.Gln213Lys) c.22C>A (p.Gln8Lys) |