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) | |
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) | |
19 | g.18075825G>A | CA506032561 | IL12RB1 | c.624C>T (p.Phe208=) c.744C>T (p.Phe248=) c.756C>T (p.Phe252=) c.636C>T (p.Phe212=) c.21C>T (p.Phe7=) | gnomAD v4 |
19 | g.18075825G>C | CA404781652 | IL12RB1 | c.624C>G (p.Phe208Leu) c.744C>G (p.Phe248Leu) c.756C>G (p.Phe252Leu) c.636C>G (p.Phe212Leu) c.21C>G (p.Phe7Leu) | |
19 | g.18075825G>T | CA404781653 | IL12RB1 | c.624C>A (p.Phe208Leu) c.744C>A (p.Phe248Leu) c.756C>A (p.Phe252Leu) c.636C>A (p.Phe212Leu) c.21C>A (p.Phe7Leu) | |
19 | g.18075826A= | CA2326172946 | IL12RB1 | c.623T= (p.Phe208=) c.743T= (p.Phe248=) c.755T= (p.Phe252=) c.635T= (p.Phe212=) c.20T= (p.Phe7=) | |
19 | g.18075826A>C | CA404781657 | IL12RB1 | c.623T>G (p.Phe208Cys) c.743T>G (p.Phe248Cys) c.755T>G (p.Phe252Cys) c.635T>G (p.Phe212Cys) c.20T>G (p.Phe7Cys) | |
19 | g.18075826A>G | CA404781660 | IL12RB1 | c.623T>C (p.Phe208Ser) c.743T>C (p.Phe248Ser) c.755T>C (p.Phe252Ser) c.635T>C (p.Phe212Ser) c.20T>C (p.Phe7Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075826A>T | CA404781663 | IL12RB1 | c.623T>A (p.Phe208Tyr) c.743T>A (p.Phe248Tyr) c.755T>A (p.Phe252Tyr) c.635T>A (p.Phe212Tyr) c.20T>A (p.Phe7Tyr) | |
19 | g.18075827A>C | CA404781666 | IL12RB1 | c.622T>G (p.Phe208Val) c.742T>G (p.Phe248Val) c.754T>G (p.Phe252Val) c.634T>G (p.Phe212Val) c.19T>G (p.Phe7Val) | |
19 | g.18075827A>G | CA404781668 | IL12RB1 | c.622T>C (p.Phe208Leu) c.742T>C (p.Phe248Leu) c.754T>C (p.Phe252Leu) c.634T>C (p.Phe212Leu) c.19T>C (p.Phe7Leu) | |
19 | g.18075827A>T | CA404781671 | IL12RB1 | c.622T>A (p.Phe208Ile) c.742T>A (p.Phe248Ile) c.754T>A (p.Phe252Ile) c.634T>A (p.Phe212Ile) c.19T>A (p.Phe7Ile) | |
19 | g.18075828T>A | CA404781673 | IL12RB1 | c.621A>T (p.Glu207Asp) c.741A>T (p.Glu247Asp) c.753A>T (p.Glu251Asp) c.633A>T (p.Glu211Asp) c.18A>T (p.Glu6Asp) | COSMIC COSMIC |
19 | g.18075828T>C | CA506032574 | IL12RB1 | c.621A>G (p.Glu207=) c.741A>G (p.Glu247=) c.753A>G (p.Glu251=) c.633A>G (p.Glu211=) c.18A>G (p.Glu6=) | |
19 | g.18075828T>G | CA404781676 | IL12RB1 | c.621A>C (p.Glu207Asp) c.741A>C (p.Glu247Asp) c.753A>C (p.Glu251Asp) c.633A>C (p.Glu211Asp) c.18A>C (p.Glu6Asp) | |
19 | g.18075829T>A | CA404781685 | IL12RB1 | c.620A>T (p.Glu207Val) c.740A>T (p.Glu247Val) c.752A>T (p.Glu251Val) c.632A>T (p.Glu211Val) c.17A>T (p.Glu6Val) | |
19 | g.18075829T>C | CA404781688 | IL12RB1 | c.620A>G (p.Glu207Gly) c.740A>G (p.Glu247Gly) c.752A>G (p.Glu251Gly) c.632A>G (p.Glu211Gly) c.17A>G (p.Glu6Gly) | |
19 | g.18075829T>G | CA404781678 | IL12RB1 | c.620A>C (p.Glu207Ala) c.740A>C (p.Glu247Ala) c.752A>C (p.Glu251Ala) c.632A>C (p.Glu211Ala) c.17A>C (p.Glu6Ala) | |
19 | g.18075830C>A | CA404781692 | IL12RB1 | c.619G>T (p.Glu207Ter) c.739G>T (p.Glu247Ter) c.751G>T (p.Glu251Ter) c.631G>T (p.Glu211Ter) c.16G>T (p.Glu6Ter) | |
19 | g.18075830C>G | CA404781690 | IL12RB1 | c.619G>C (p.Glu207Gln) c.739G>C (p.Glu247Gln) c.751G>C (p.Glu251Gln) c.631G>C (p.Glu211Gln) c.16G>C (p.Glu6Gln) | |
19 | g.18075830C>T | CA404781695 | IL12RB1 | c.619G>A (p.Glu207Lys) c.739G>A (p.Glu247Lys) c.751G>A (p.Glu251Lys) c.631G>A (p.Glu211Lys) c.16G>A (p.Glu6Lys) | |
19 | g.18075831C>A | CA404781699 | IL12RB1 | c.618G>T (p.Gln206His) c.738G>T (p.Gln246His) c.750G>T (p.Gln250His) c.630G>T (p.Gln210His) c.15G>T (p.Gln5His) | COSMIC COSMIC COSMIC |
19 | g.18075831C>G | CA404781702 | IL12RB1 | c.618G>C (p.Gln206His) c.738G>C (p.Gln246His) c.750G>C (p.Gln250His) c.630G>C (p.Gln210His) c.15G>C (p.Gln5His) | |
19 | g.18075831C>T | CA506032589 | IL12RB1 | c.618G>A (p.Gln206=) c.738G>A (p.Gln246=) c.750G>A (p.Gln250=) c.630G>A (p.Gln210=) c.15G>A (p.Gln5=) | gnomAD v4 |
19 | g.18075832T>A | CA404781705 | IL12RB1 | c.617A>T (p.Gln206Leu) c.737A>T (p.Gln246Leu) c.749A>T (p.Gln250Leu) c.629A>T (p.Gln210Leu) c.14A>T (p.Gln5Leu) | |
19 | g.18075832T>C | CA404781712 | IL12RB1 | c.617A>G (p.Gln206Arg) c.737A>G (p.Gln246Arg) c.749A>G (p.Gln250Arg) c.629A>G (p.Gln210Arg) c.14A>G (p.Gln5Arg) | |
19 | g.18075832T>G | CA404781715 | IL12RB1 | c.617A>C (p.Gln206Pro) c.737A>C (p.Gln246Pro) c.749A>C (p.Gln250Pro) c.629A>C (p.Gln210Pro) c.14A>C (p.Gln5Pro) | |
19 | g.18075833G>A | CA404781718 | IL12RB1 | c.616C>T (p.Gln206Ter) c.736C>T (p.Gln246Ter) c.748C>T (p.Gln250Ter) c.628C>T (p.Gln210Ter) c.13C>T (p.Gln5Ter) | |
19 | g.18075833G>C | CA404781721 | IL12RB1 | c.616C>G (p.Gln206Glu) c.736C>G (p.Gln246Glu) c.748C>G (p.Gln250Glu) c.628C>G (p.Gln210Glu) c.13C>G (p.Gln5Glu) | |
19 | g.18075833G>T | CA404781723 | IL12RB1 | c.616C>A (p.Gln206Lys) c.736C>A (p.Gln246Lys) c.748C>A (p.Gln250Lys) c.628C>A (p.Gln210Lys) c.13C>A (p.Gln5Lys) | |
19 | g.18075835del | CA2813822837 | IL12RB1 | c.616del (p.Gln206ArgfsTer?) c.736del (p.Gln246ArgfsTer?) c.748del (p.Gln250ArgfsTer?) c.628del (p.Gln210ArgfsTer?) c.13del (p.Gln5ArgfsTer?) | |
19 | g.18075834G>A | CA506032606 | IL12RB1 | c.615C>T (p.Ala205=) c.735C>T (p.Ala245=) c.747C>T (p.Ala249=) c.627C>T (p.Ala209=) c.12C>T (p.Ala4=) | |
19 | g.18075834G>C | CA506032608 | IL12RB1 | c.615C>G (p.Ala205=) c.735C>G (p.Ala245=) c.747C>G (p.Ala249=) c.627C>G (p.Ala209=) c.12C>G (p.Ala4=) | |
19 | g.18075834G>T | CA506032611 | IL12RB1 | c.615C>A (p.Ala205=) c.735C>A (p.Ala245=) c.747C>A (p.Ala249=) c.627C>A (p.Ala209=) c.12C>A (p.Ala4=) | gnomAD v4 |
19 | g.18075835G>A | CA404781724 | IL12RB1 | c.614C>T (p.Ala205Val) c.734C>T (p.Ala245Val) c.746C>T (p.Ala249Val) c.626C>T (p.Ala209Val) c.11C>T (p.Ala4Val) | |
19 | g.18075835G>C | CA404781725 | IL12RB1 | c.614C>G (p.Ala205Gly) c.734C>G (p.Ala245Gly) c.746C>G (p.Ala249Gly) c.626C>G (p.Ala209Gly) c.11C>G (p.Ala4Gly) | |
19 | g.18075835G>T | CA404781726 | IL12RB1 | c.614C>A (p.Ala205Asp) c.734C>A (p.Ala245Asp) c.746C>A (p.Ala249Asp) c.626C>A (p.Ala209Asp) c.11C>A (p.Ala4Asp) | gnomAD v4 |
19 | g.18075836C>A | CA404781733 | IL12RB1 | c.613G>T (p.Ala205Ser) c.733G>T (p.Ala245Ser) c.745G>T (p.Ala249Ser) c.625G>T (p.Ala209Ser) c.10G>T (p.Ala4Ser) | |
19 | g.18075836C= | CA2326172949 | IL12RB1 | c.613G= (p.Ala205=) c.733G= (p.Ala245=) c.745G= (p.Ala249=) c.625G= (p.Ala209=) c.10G= (p.Ala4=) | |
19 | g.18075836C>G | CA404781729 | IL12RB1 | c.613G>C (p.Ala205Pro) c.733G>C (p.Ala245Pro) c.745G>C (p.Ala249Pro) c.625G>C (p.Ala209Pro) c.10G>C (p.Ala4Pro) | |
19 | g.18075836C>T | CA404781727 | IL12RB1 | c.613G>A (p.Ala205Thr) c.733G>A (p.Ala245Thr) c.745G>A (p.Ala249Thr) c.625G>A (p.Ala209Thr) c.10G>A (p.Ala4Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075837C>A | CA506032623 | IL12RB1 | c.612G>T (p.Val204=) c.732G>T (p.Val244=) c.744G>T (p.Val248=) c.624G>T (p.Val208=) c.9G>T (p.Val3=) | |
19 | g.18075837C= | CA2326172952 | IL12RB1 | c.612G= (p.Val204=) c.732G= (p.Val244=) c.744G= (p.Val248=) c.624G= (p.Val208=) c.9G= (p.Val3=) | |
19 | g.18075837C>G | CA506032626 | IL12RB1 | c.612G>C (p.Val204=) c.732G>C (p.Val244=) c.744G>C (p.Val248=) c.624G>C (p.Val208=) c.9G>C (p.Val3=) | |
19 | g.18075837C>T | CA9305136 | IL12RB1 | c.612G>A (p.Val204=) c.732G>A (p.Val244=) c.744G>A (p.Val248=) c.624G>A (p.Val208=) c.9G>A (p.Val3=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075838A>C | CA404781734 | IL12RB1 | c.611T>G (p.Val204Gly) c.731T>G (p.Val244Gly) c.743T>G (p.Val248Gly) c.623T>G (p.Val208Gly) c.8T>G (p.Val3Gly) | |
19 | g.18075838A>G | CA404781735 | IL12RB1 | c.611T>C (p.Val204Ala) c.731T>C (p.Val244Ala) c.743T>C (p.Val248Ala) c.623T>C (p.Val208Ala) c.8T>C (p.Val3Ala) | |
19 | g.18075838A>T | CA404781736 | IL12RB1 | c.611T>A (p.Val204Glu) c.731T>A (p.Val244Glu) c.743T>A (p.Val248Glu) c.623T>A (p.Val208Glu) c.8T>A (p.Val3Glu) | |
19 | g.18075839C>A | CA404781738 | IL12RB1 | c.610G>T (p.Val204Leu) c.730G>T (p.Val244Leu) c.742G>T (p.Val248Leu) c.622G>T (p.Val208Leu) c.7G>T (p.Val3Leu) | |
19 | g.18075839C>G | CA404781740 | IL12RB1 | c.610G>C (p.Val204Leu) c.730G>C (p.Val244Leu) c.742G>C (p.Val248Leu) c.622G>C (p.Val208Leu) c.7G>C (p.Val3Leu) | |
19 | g.18075839C>T | CA404781742 | IL12RB1 | c.610G>A (p.Val204Met) c.730G>A (p.Val244Met) c.742G>A (p.Val248Met) c.622G>A (p.Val208Met) c.7G>A (p.Val3Met) | |
19 | g.18075840A>C | CA404781746 | IL12RB1 | c.609T>G (p.Asn203Lys) c.729T>G (p.Asn243Lys) c.741T>G (p.Asn247Lys) c.621T>G (p.Asn207Lys) c.6T>G (p.Asn2Lys) | |
19 | g.18075840A>G | CA506032643 | IL12RB1 | c.609T>C (p.Asn203=) c.729T>C (p.Asn243=) c.741T>C (p.Asn247=) c.621T>C (p.Asn207=) c.6T>C (p.Asn2=) | |
19 | g.18075840A>T | CA404781749 | IL12RB1 | c.609T>A (p.Asn203Lys) c.729T>A (p.Asn243Lys) c.741T>A (p.Asn247Lys) c.621T>A (p.Asn207Lys) c.6T>A (p.Asn2Lys) | |
19 | g.18075841T>A | CA404781751 | IL12RB1 | c.608A>T (p.Asn203Ile) c.728A>T (p.Asn243Ile) c.740A>T (p.Asn247Ile) c.620A>T (p.Asn207Ile) c.5A>T (p.Asn2Ile) | |
19 | g.18075841T>C | CA404781752 | IL12RB1 | c.608A>G (p.Asn203Ser) c.728A>G (p.Asn243Ser) c.740A>G (p.Asn247Ser) c.620A>G (p.Asn207Ser) c.5A>G (p.Asn2Ser) | |
19 | g.18075841T>G | CA404781754 | IL12RB1 | c.608A>C (p.Asn203Thr) c.728A>C (p.Asn243Thr) c.740A>C (p.Asn247Thr) c.620A>C (p.Asn207Thr) c.5A>C (p.Asn2Thr) | |
19 | g.18075842T>A | CA9305137 | IL12RB1 | c.607A>T (p.Asn203Tyr) c.727A>T (p.Asn243Tyr) c.739A>T (p.Asn247Tyr) c.619A>T (p.Asn207Tyr) c.4A>T (p.Asn2Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075842T>C | CA404781760 | IL12RB1 | c.607A>G (p.Asn203Asp) c.727A>G (p.Asn243Asp) c.739A>G (p.Asn247Asp) c.619A>G (p.Asn207Asp) c.4A>G (p.Asn2Asp) | gnomAD v4 |
19 | g.18075842T>G | CA404781756 | IL12RB1 | c.607A>C (p.Asn203His) c.727A>C (p.Asn243His) c.739A>C (p.Asn247His) c.619A>C (p.Asn207His) c.4A>C (p.Asn2His) | |
19 | g.18075842T= | CA2326172954 | IL12RB1 | c.607A= (p.Asn203=) c.727A= (p.Asn243=) c.739A= (p.Asn247=) c.619A= (p.Asn207=) c.4A= (p.Asn2=) | |
19 | g.18075843C>A | CA404781763 | IL12RB1 | c.606G>T (p.Met202Ile) c.726G>T (p.Met242Ile) c.738G>T (p.Met246Ile) c.618G>T (p.Met206Ile) c.3G>T (p.Met1Ile) | |
19 | g.18075843C>G | CA404781766 | IL12RB1 | c.606G>C (p.Met202Ile) c.726G>C (p.Met242Ile) c.738G>C (p.Met246Ile) c.618G>C (p.Met206Ile) c.3G>C (p.Met1Ile) | |
19 | g.18075843C>T | CA404781770 | IL12RB1 | c.606G>A (p.Met202Ile) c.726G>A (p.Met242Ile) c.738G>A (p.Met246Ile) c.618G>A (p.Met206Ile) c.3G>A (p.Met1Ile) | |
19 | g.18075844A= | CA2326172956 | IL12RB1 | c.605T= (p.Met202=) c.725T= (p.Met242=) c.737T= (p.Met246=) c.617T= (p.Met206=) c.2T= (p.Met1=) | |
19 | g.18075844A>C | CA9305138 | IL12RB1 | c.605T>G (p.Met202Arg) c.725T>G (p.Met242Arg) c.737T>G (p.Met246Arg) c.617T>G (p.Met206Arg) c.2T>G (p.Met1Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075844A>G | CA404781780 | IL12RB1 | c.605T>C (p.Met202Thr) c.725T>C (p.Met242Thr) c.737T>C (p.Met246Thr) c.617T>C (p.Met206Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
19 | g.18075844A>T | CA404781781 | IL12RB1 | c.605T>A (p.Met202Lys) c.725T>A (p.Met242Lys) c.737T>A (p.Met246Lys) c.617T>A (p.Met206Lys) c.2T>A (p.Met1Lys) | |
19 | g.18075845T>A | CA404781789 | IL12RB1 | c.604A>T (p.Met202Leu) c.724A>T (p.Met242Leu) c.736A>T (p.Met246Leu) c.616A>T (p.Met206Leu) c.1A>T (p.Met1Leu) | gnomAD v4 |
19 | g.18075845T>C | CA404781784 | IL12RB1 | c.604A>G (p.Met202Val) c.724A>G (p.Met242Val) c.736A>G (p.Met246Val) c.616A>G (p.Met206Val) c.1A>G (p.Met1Val) | |
19 | g.18075845T>G | CA404781787 | IL12RB1 | c.604A>C (p.Met202Leu) c.724A>C (p.Met242Leu) c.736A>C (p.Met246Leu) c.616A>C (p.Met206Leu) c.1A>C (p.Met1Leu) | |
19 | g.18075846C>A | CA9305139 | IL12RB1 | c.603G>T (p.Glu201Asp) c.723G>T (p.Glu241Asp) c.735G>T (p.Glu245Asp) c.615G>T (p.Glu205Asp) c.-1G>T (n.-1G>T) | dbSNP ExAC gnomAD v2 |
19 | g.18075846C= | CA2326172958 | IL12RB1 | c.603G= (p.Glu201=) c.723G= (p.Glu241=) c.735G= (p.Glu245=) c.615G= (p.Glu205=) c.-1G= (n.-1G=) | |
19 | g.18075846C>G | CA404781792 | IL12RB1 | c.603G>C (p.Glu201Asp) c.723G>C (p.Glu241Asp) c.735G>C (p.Glu245Asp) c.615G>C (p.Glu205Asp) c.-1G>C (n.-1G>C) | |
19 | g.18075846C>T | CA506032671 | IL12RB1 | c.603G>A (p.Glu201=) c.723G>A (p.Glu241=) c.735G>A (p.Glu245=) c.615G>A (p.Glu205=) c.-1G>A (n.-1G>A) | |
19 | g.18075847T>A | CA404781794 | IL12RB1 | c.602A>T (p.Glu201Val) c.722A>T (p.Glu241Val) c.734A>T (p.Glu245Val) c.614A>T (p.Glu205Val) c.-2A>T (n.-2A>T) | gnomAD v4 |
19 | g.18075847T>C | CA404781796 | IL12RB1 | c.602A>G (p.Glu201Gly) c.722A>G (p.Glu241Gly) c.734A>G (p.Glu245Gly) c.614A>G (p.Glu205Gly) c.-2A>G (n.-2A>G) | gnomAD v4 |
19 | g.18075847T>G | CA9305140 | IL12RB1 | c.602A>C (p.Glu201Ala) c.722A>C (p.Glu241Ala) c.734A>C (p.Glu245Ala) c.614A>C (p.Glu205Ala) c.-2A>C (n.-2A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075847T= | CA2326172968 | IL12RB1 | c.602A= (p.Glu201=) c.722A= (p.Glu241=) c.734A= (p.Glu245=) c.614A= (p.Glu205=) c.-2A= (n.-2A=) | |
19 | g.18075848C>A | CA404781801 | IL12RB1 | c.601G>T (p.Glu201Ter) c.721G>T (p.Glu241Ter) c.733G>T (p.Glu245Ter) c.613G>T (p.Glu205Ter) c.-3G>T (n.-3G>T) | |
19 | g.18075848C>G | CA404781807 | IL12RB1 | c.601G>C (p.Glu201Gln) c.721G>C (p.Glu241Gln) c.733G>C (p.Glu245Gln) c.613G>C (p.Glu205Gln) c.-3G>C (n.-3G>C) | |
19 | g.18075848C>T | CA404781805 | IL12RB1 | c.601G>A (p.Glu201Lys) c.721G>A (p.Glu241Lys) c.733G>A (p.Glu245Lys) c.613G>A (p.Glu205Lys) c.-3G>A (n.-3G>A) | |
19 | g.18075849C>A | CA506032682 | IL12RB1 | c.600G>T (p.Leu200=) c.720G>T (p.Leu240=) c.732G>T (p.Leu244=) c.612G>T (p.Leu204=) c.-4G>T (n.-4G>T) | |
19 | g.18075849C>G | CA506032684 | IL12RB1 | c.600G>C (p.Leu200=) c.720G>C (p.Leu240=) c.732G>C (p.Leu244=) c.612G>C (p.Leu204=) c.-4G>C (n.-4G>C) | |
19 | g.18075849C>T | CA506032685 | IL12RB1 | c.600G>A (p.Leu200=) c.720G>A (p.Leu240=) c.732G>A (p.Leu244=) c.612G>A (p.Leu204=) c.-4G>A (n.-4G>A) | |
19 | g.18075849_18075850delinsCA | CA2326172970 | IL12RB1 | c.599_600delinsTG (p.Leu200=) c.719_720delinsTG (p.Leu240=) c.731_732delinsTG (p.Leu244=) c.611_612delinsTG (p.Leu204=) c.-5_-4delinsTG (n.-5_-4delinsTG) | |
19 | g.18075850del | CA632093984 | IL12RB1 | c.599del (p.Leu200ArgfsTer3) c.719del (p.Leu240ArgfsTer3) c.731del (p.Leu244ArgfsTer3) c.611del (p.Leu204ArgfsTer3) c.-5del (n.-5del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075850A>C | CA404781809 | IL12RB1 | c.599T>G (p.Leu200Arg) c.719T>G (p.Leu240Arg) c.731T>G (p.Leu244Arg) c.611T>G (p.Leu204Arg) c.-5T>G (n.-5T>G) | |
19 | g.18075850A>G | CA404781811 | IL12RB1 | c.599T>C (p.Leu200Pro) c.719T>C (p.Leu240Pro) c.731T>C (p.Leu244Pro) c.611T>C (p.Leu204Pro) c.-5T>C (n.-5T>C) | |
19 | g.18075850A>T | CA404781814 | IL12RB1 | c.599T>A (p.Leu200Gln) c.719T>A (p.Leu240Gln) c.731T>A (p.Leu244Gln) c.611T>A (p.Leu204Gln) c.-5T>A (n.-5T>A) | |
19 | g.18075851G>A | CA506032694 | IL12RB1 | c.598C>T (p.Leu200=) c.718C>T (p.Leu240=) c.730C>T (p.Leu244=) c.610C>T (p.Leu204=) c.-6C>T (n.-6C>T) | |
19 | g.18075851G>C | CA404781819 | IL12RB1 | c.598C>G (p.Leu200Val) c.718C>G (p.Leu240Val) c.730C>G (p.Leu244Val) c.610C>G (p.Leu204Val) c.-6C>G (n.-6C>G) | |
19 | g.18075851G>T | CA404781821 | IL12RB1 | c.598C>A (p.Leu200Met) c.718C>A (p.Leu240Met) c.730C>A (p.Leu244Met) c.610C>A (p.Leu204Met) c.-6C>A (n.-6C>A) | |
19 | g.18075855dup | CA2813822839 | IL12RB1 | c.598dup (p.Leu200ProfsTer?) c.718dup (p.Leu240ProfsTer?) c.730dup (p.Leu244ProfsTer?) c.610dup (p.Leu204ProfsTer?) c.-6dup (n.-6dup) | |
19 | g.18075855del | CA2583512013 | IL12RB1 | c.598del (p.Leu200TrpfsTer3) c.718del (p.Leu240TrpfsTer3) c.730del (p.Leu244TrpfsTer3) c.610del (p.Leu204TrpfsTer3) c.-6del (n.-6del) | gnomAD v4 |
19 | g.18075852G>A | CA506032699 | IL12RB1 | c.597C>T (p.Pro199=) c.717C>T (p.Pro239=) c.729C>T (p.Pro243=) c.609C>T (p.Pro203=) c.-7C>T (n.-7C>T) | gnomAD v4 |
19 | g.18075852G>C | CA506032698 | IL12RB1 | c.597C>G (p.Pro199=) c.717C>G (p.Pro239=) c.729C>G (p.Pro243=) c.609C>G (p.Pro203=) c.-7C>G (n.-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18075852G= | CA2326172973 | IL12RB1 | c.597C= (p.Pro199=) c.717C= (p.Pro239=) c.729C= (p.Pro243=) c.609C= (p.Pro203=) c.-7C= (n.-7C=) | |
19 | g.18075852G>T | CA9305141 | IL12RB1 | c.597C>A (p.Pro199=) c.717C>A (p.Pro239=) c.729C>A (p.Pro243=) c.609C>A (p.Pro203=) c.-7C>A (n.-7C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075853G>A | CA404781830 | IL12RB1 | c.596C>T (p.Pro199Leu) c.716C>T (p.Pro239Leu) c.728C>T (p.Pro243Leu) c.608C>T (p.Pro203Leu) c.-8C>T (n.-8C>T) | |
19 | g.18075853G>C | CA9305142 | IL12RB1 | c.596C>G (p.Pro199Arg) c.716C>G (p.Pro239Arg) c.728C>G (p.Pro243Arg) c.608C>G (p.Pro203Arg) c.-8C>G (n.-8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075853G= | CA2326172976 | IL12RB1 | c.596C= (p.Pro199=) c.716C= (p.Pro239=) c.728C= (p.Pro243=) c.608C= (p.Pro203=) c.-8C= (n.-8C=) | |
19 | g.18075853G>T | CA404781834 | IL12RB1 | c.596C>A (p.Pro199His) c.716C>A (p.Pro239His) c.728C>A (p.Pro243His) c.608C>A (p.Pro203His) c.-8C>A (n.-8C>A) | |
19 | g.18075853_18075854delinsAA | CA645610246 | IL12RB1 | c.595_596delinsTT (p.Pro199Phe) c.715_716delinsTT (p.Pro239Phe) c.727_728delinsTT (p.Pro243Phe) c.607_608delinsTT (p.Pro203Phe) c.-9_-8delinsTT (n.-9_-8delinsTT) | COSMIC COSMIC COSMIC |
19 | g.18075854G>A | CA404781837 | IL12RB1 | c.595C>T (p.Pro199Ser) c.715C>T (p.Pro239Ser) c.727C>T (p.Pro243Ser) c.607C>T (p.Pro203Ser) c.-9C>T (n.-9C>T) | |
19 | g.18075854G>C | CA404781840 | IL12RB1 | c.595C>G (p.Pro199Ala) c.715C>G (p.Pro239Ala) c.727C>G (p.Pro243Ala) c.607C>G (p.Pro203Ala) c.-9C>G (n.-9C>G) | |
19 | g.18075854G>T | CA404781841 | IL12RB1 | c.595C>A (p.Pro199Thr) c.715C>A (p.Pro239Thr) c.727C>A (p.Pro243Thr) c.607C>A (p.Pro203Thr) c.-9C>A (n.-9C>A) | |
19 | g.18075855G>A | CA506032714 | IL12RB1 | c.594C>T (p.Cys198=) c.714C>T (p.Cys238=) c.726C>T (p.Cys242=) c.606C>T (p.Cys202=) c.-10C>T (n.-10C>T) | |
19 | g.18075855G>C | CA404781847 | IL12RB1 | c.594C>G (p.Cys198Trp) c.714C>G (p.Cys238Trp) c.726C>G (p.Cys242Trp) c.606C>G (p.Cys202Trp) c.-10C>G (n.-10C>G) | |
19 | g.18075855G>T | CA404781844 | IL12RB1 | c.594C>A (p.Cys198Ter) c.714C>A (p.Cys238Ter) c.726C>A (p.Cys242Ter) c.606C>A (p.Cys202Ter) c.-10C>A (n.-10C>A) | gnomAD v4 |
19 | g.18075856C>A | CA404781850 | IL12RB1 | c.593G>T (p.Cys198Phe) c.713G>T (p.Cys238Phe) c.725G>T (p.Cys242Phe) c.605G>T (p.Cys202Phe) c.-11G>T (n.-11G>T) | |
19 | g.18075856C>G | CA404781859 | IL12RB1 | c.593G>C (p.Cys198Ser) c.713G>C (p.Cys238Ser) c.725G>C (p.Cys242Ser) c.605G>C (p.Cys202Ser) c.-11G>C (n.-11G>C) | |
19 | g.18075856C>T | CA404781855 | IL12RB1 | c.593G>A (p.Cys198Tyr) c.713G>A (p.Cys238Tyr) c.725G>A (p.Cys242Tyr) c.605G>A (p.Cys202Tyr) c.-11G>A (n.-11G>A) | |
19 | g.18075857A= | CA2326172978 | IL12RB1 | c.592T= (p.Cys198=) c.712T= (p.Cys238=) c.724T= (p.Cys242=) c.604T= (p.Cys202=) c.-12T= (n.-12T=) | |
19 | g.18075857A>C | CA404781861 | IL12RB1 | c.592T>G (p.Cys198Gly) c.712T>G (p.Cys238Gly) c.724T>G (p.Cys242Gly) c.604T>G (p.Cys202Gly) c.-12T>G (n.-12T>G) | |
19 | g.18075857A>G | CA119249 | IL12RB1 | c.592T>C (p.Cys198Arg) c.712T>C (p.Cys238Arg) c.724T>C (p.Cys242Arg) c.604T>C (p.Cys202Arg) c.-12T>C (n.-12T>C) | ClinVar dbSNP |
19 | g.18075857A>T | CA404781863 | IL12RB1 | c.592T>A (p.Cys198Ser) c.712T>A (p.Cys238Ser) c.724T>A (p.Cys242Ser) c.604T>A (p.Cys202Ser) c.-12T>A (n.-12T>A) | |
19 | g.18075858G>A | CA506032732 | IL12RB1 | c.591C>T (p.Leu197=) c.711C>T (p.Leu237=) c.723C>T (p.Leu241=) c.603C>T (p.Leu201=) c.-13C>T (n.-13C>T) | |
19 | g.18075858G>C | CA506032735 | IL12RB1 | c.591C>G (p.Leu197=) c.711C>G (p.Leu237=) c.723C>G (p.Leu241=) c.603C>G (p.Leu201=) c.-13C>G (n.-13C>G) | |
19 | g.18075858G>T | CA506032737 | IL12RB1 | c.591C>A (p.Leu197=) c.711C>A (p.Leu237=) c.723C>A (p.Leu241=) c.603C>A (p.Leu201=) c.-13C>A (n.-13C>A) | |
19 | g.18075859A>C | CA404781864 | IL12RB1 | c.590T>G (p.Leu197Arg) c.710T>G (p.Leu237Arg) c.722T>G (p.Leu241Arg) c.602T>G (p.Leu201Arg) c.-14T>G (n.-14T>G) | |
19 | g.18075859A>G | CA404781865 | IL12RB1 | c.590T>C (p.Leu197Pro) c.710T>C (p.Leu237Pro) c.722T>C (p.Leu241Pro) c.602T>C (p.Leu201Pro) c.-14T>C (n.-14T>C) | gnomAD v4 |
19 | g.18075859A>T | CA404781866 | IL12RB1 | c.590T>A (p.Leu197His) c.710T>A (p.Leu237His) c.722T>A (p.Leu241His) c.602T>A (p.Leu201His) c.-14T>A (n.-14T>A) | |
19 | g.18075860G>A | CA404781869 | IL12RB1 | c.589C>T (p.Leu197Phe) c.709C>T (p.Leu237Phe) c.721C>T (p.Leu241Phe) c.601C>T (p.Leu201Phe) c.-15C>T (n.-15C>T) | |
19 | g.18075860G>C | CA404781870 | IL12RB1 | c.589C>G (p.Leu197Val) c.709C>G (p.Leu237Val) c.721C>G (p.Leu241Val) c.601C>G (p.Leu201Val) c.-15C>G (n.-15C>G) | |
19 | g.18075860G>T | CA404781871 | IL12RB1 | c.589C>A (p.Leu197Ile) c.709C>A (p.Leu237Ile) c.721C>A (p.Leu241Ile) c.601C>A (p.Leu201Ile) c.-15C>A (n.-15C>A) | |
19 | g.18075861G>A | CA506032751 | IL12RB1 | c.588C>T (p.Cys196=) c.708C>T (p.Cys236=) c.720C>T (p.Cys240=) c.600C>T (p.Cys200=) c.-16C>T (n.-16C>T) | |
19 | g.18075861G>C | CA404781876 | IL12RB1 | c.588C>G (p.Cys196Trp) c.708C>G (p.Cys236Trp) c.720C>G (p.Cys240Trp) c.600C>G (p.Cys200Trp) c.-16C>G (n.-16C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18075861G= | CA2326172982 | IL12RB1 | c.588C= (p.Cys196=) c.708C= (p.Cys236=) c.720C= (p.Cys240=) c.600C= (p.Cys200=) c.-16C= (n.-16C=) | |
19 | g.18075861G>T | CA404781877 | IL12RB1 | c.588C>A (p.Cys196Ter) c.708C>A (p.Cys236Ter) c.720C>A (p.Cys240Ter) c.600C>A (p.Cys200Ter) c.-16C>A (n.-16C>A) | |
19 | g.18075862C>A | CA404781881 | IL12RB1 | c.587G>T (p.Cys196Phe) c.707G>T (p.Cys236Phe) c.719G>T (p.Cys240Phe) c.599G>T (p.Cys200Phe) c.-17G>T (n.-17G>T) | gnomAD v4 |
19 | g.18075862C>G | CA404781879 | IL12RB1 | c.587G>C (p.Cys196Ser) c.707G>C (p.Cys236Ser) c.719G>C (p.Cys240Ser) c.599G>C (p.Cys200Ser) c.-17G>C (n.-17G>C) | gnomAD v4 |
19 | g.18075862C>T | CA404781878 | IL12RB1 | c.587G>A (p.Cys196Tyr) c.707G>A (p.Cys236Tyr) c.719G>A (p.Cys240Tyr) c.599G>A (p.Cys200Tyr) c.-17G>A (n.-17G>A) | gnomAD v4 |
19 | g.18075863A= | CA2326172985 | IL12RB1 | c.586T= (p.Cys196=) c.706T= (p.Cys236=) c.718T= (p.Cys240=) c.598T= (p.Cys200=) c.-18T= (n.-18T=) | |
19 | g.18075863A>C | CA404781883 | IL12RB1 | c.586T>G (p.Cys196Gly) c.706T>G (p.Cys236Gly) c.718T>G (p.Cys240Gly) c.598T>G (p.Cys200Gly) c.-18T>G (n.-18T>G) | |
19 | g.18075863A>G | CA9305143 | IL12RB1 | c.586T>C (p.Cys196Arg) c.706T>C (p.Cys236Arg) c.718T>C (p.Cys240Arg) c.598T>C (p.Cys200Arg) c.-18T>C (n.-18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18075863A>T | CA404781885 | IL12RB1 | c.586T>A (p.Cys196Ser) c.706T>A (p.Cys236Ser) c.718T>A (p.Cys240Ser) c.598T>A (p.Cys200Ser) c.-18T>A (n.-18T>A) | |
19 | g.18075864G>A | CA506032766 | IL12RB1 | c.585C>T (p.Ser195=) c.705C>T (p.Ser235=) c.717C>T (p.Ser239=) c.597C>T (p.Ser199=) c.-19C>T (n.-19C>T) | |
19 | g.18075864G>C | CA506032768 | IL12RB1 | c.585C>G (p.Ser195=) c.705C>G (p.Ser235=) c.717C>G (p.Ser239=) c.597C>G (p.Ser199=) c.-19C>G (n.-19C>G) | |
19 | g.18075864G>T | CA506032771 | IL12RB1 | c.585C>A (p.Ser195=) c.705C>A (p.Ser235=) c.717C>A (p.Ser239=) c.597C>A (p.Ser199=) c.-19C>A (n.-19C>A) | |
19 | g.18075864_18075877delinsGGACTCTGGGGAGA | CA2326172987 | IL12RB1 | c.581-9_585delinsTCTCCCCAGAGTCC c.701-9_705delinsTCTCCCCAGAGTCC c.713-9_717delinsTCTCCCCAGAGTCC c.593-9_597delinsTCTCCCCAGAGTCC c.-23-9_-19delinsTCTCCCCAGAGTCC | |
19 | g.18075865G>A | CA404781887 | IL12RB1 | c.584C>T (p.Ser195Phe) c.704C>T (p.Ser235Phe) c.716C>T (p.Ser239Phe) c.596C>T (p.Ser199Phe) c.-20C>T (n.-20C>T) | COSMIC COSMIC COSMIC |
19 | g.18075865G>C | CA404781888 | IL12RB1 | c.584C>G (p.Ser195Cys) c.704C>G (p.Ser235Cys) c.716C>G (p.Ser239Cys) c.596C>G (p.Ser199Cys) c.-20C>G (n.-20C>G) | |
19 | g.18075865G= | CA2326172990 | IL12RB1 | c.584C= (p.Ser195=) c.704C= (p.Ser235=) c.716C= (p.Ser239=) c.596C= (p.Ser199=) c.-20C= (n.-20C=) | |
19 | g.18075865G>T | CA404781889 | IL12RB1 | c.584C>A (p.Ser195Tyr) c.704C>A (p.Ser235Tyr) c.716C>A (p.Ser239Tyr) c.596C>A (p.Ser199Tyr) c.-20C>A (n.-20C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075866_18075878del | CA632093987 | IL12RB1 | c.581-9_584del c.701-9_704del c.713-9_716del c.593-9_596del c.-23-9_-20del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075865_18075866insTGTC | CA9305144 | IL12RB1 | c.583_584insGACA (p.Ser195Ter) c.703_704insGACA (p.Ser235Ter) c.715_716insGACA (p.Ser239Ter) c.595_596insGACA (p.Ser199Ter) c.-21_-20insGACA (n.-21_-20insGACA) | dbSNP ExAC |
19 | g.18075866A= | CA2326172993 | IL12RB1 | c.583T= (p.Ser195=) c.703T= (p.Ser235=) c.715T= (p.Ser239=) c.595T= (p.Ser199=) c.-21T= (n.-21T=) | |
19 | g.18075866A>C | CA404781890 | IL12RB1 | c.583T>G (p.Ser195Ala) c.703T>G (p.Ser235Ala) c.715T>G (p.Ser239Ala) c.595T>G (p.Ser199Ala) c.-21T>G (n.-21T>G) | |
19 | g.18075866A>G | CA404781892 | IL12RB1 | c.583T>C (p.Ser195Pro) c.703T>C (p.Ser235Pro) c.715T>C (p.Ser239Pro) c.595T>C (p.Ser199Pro) c.-21T>C (n.-21T>C) | dbSNP |
19 | g.18075866A>T | CA404781896 | IL12RB1 | c.583T>A (p.Ser195Thr) c.703T>A (p.Ser235Thr) c.715T>A (p.Ser239Thr) c.595T>A (p.Ser199Thr) c.-21T>A (n.-21T>A) | |
19 | g.18075867C>A | CA404781897 | IL12RB1 | c.582G>T (p.Glu194Asp) c.702G>T (p.Glu234Asp) c.714G>T (p.Glu238Asp) c.594G>T (p.Glu198Asp) c.-22G>T (n.-22G>T) | |
19 | g.18075867C= | CA2326172995 | IL12RB1 | c.582G= (p.Glu194=) c.702G= (p.Glu234=) c.714G= (p.Glu238=) c.594G= (p.Glu198=) c.-22G= (n.-22G=) | |
19 | g.18075867C>G | CA404781898 | IL12RB1 | c.582G>C (p.Glu194Asp) c.702G>C (p.Glu234Asp) c.714G>C (p.Glu238Asp) c.594G>C (p.Glu198Asp) c.-22G>C (n.-22G>C) | gnomAD v4 |
19 | g.18075867C>T | CA506032787 | IL12RB1 | c.582G>A (p.Glu194=) c.702G>A (p.Glu234=) c.714G>A (p.Glu238=) c.594G>A (p.Glu198=) c.-22G>A (n.-22G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075867_18075868insCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGAT | CA9305145 | IL12RB1 | c.581_582insATCCCTTGAACCCGGGAGGTGGAGGTTGCAGGGATCCAAGATCACACCACTGCACTCCAGCCTGG (p.Cys196LeufsTer29) c.701_702insATCCCTTGAACCCGGGAGGTGGAGGTTGCAGGGATCCAAGATCACACCACTGCACTCCAGCCTGG (p.Cys236LeufsTer29) c.713_714insATCCCTTGAACCCGGGAGGTGGAGGTTGCAGGGATCCAAGATCACACCACTGCACTCCAGCCTGG (p.Cys240LeufsTer29) c.593_594insATCCCTTGAACCCGGGAGGTGGAGGTTGCAGGGATCCAAGATCACACCACTGCACTCCAGCCTGG (p.Cys200LeufsTer29) c.-23_-22insATCCCTTGAACCCGGGAGGTGGAGGTTGCAGGGATCCAAGATCACACCACTGCACTCCAGCCTGG (n.-23_-22insATCCCTTGAACCCGGGAGGTGGAGGTTGCAGGGATCCAAGATCACACCACTGCACTCCAGCCTGG) | ExAC |
19 | g.18075868T>A | CA404781902 | IL12RB1 | c.581A>T (p.Glu194Val) c.701A>T (p.Glu234Val) c.713A>T (p.Glu238Val) c.593A>T (p.Glu198Val) c.-23A>T (n.-23A>T) | |
19 | g.18075868T>C | CA404781904 | IL12RB1 | c.581A>G (p.Glu194Gly) c.701A>G (p.Glu234Gly) c.713A>G (p.Glu238Gly) c.593A>G (p.Glu198Gly) c.-23A>G (n.-23A>G) | |
19 | g.18075868T>G | CA404781900 | IL12RB1 | c.581A>C (p.Glu194Ala) c.701A>C (p.Glu234Ala) c.713A>C (p.Glu238Ala) c.593A>C (p.Glu198Ala) c.-23A>C (n.-23A>C) | dbSNP |
19 | g.18075868T= | CA2326172997 | IL12RB1 | c.581A= (p.Glu194=) c.701A= (p.Glu234=) c.713A= (p.Glu238=) c.593A= (p.Glu198=) c.-23A= (n.-23A=) | |
19 | g.18075869C>A | CA404781906 | IL12RB1 | c.581-1G>T (n.581-1G>T) c.701-1G>T (n.701-1G>T) c.713-1G>T (n.713-1G>T) c.593-1G>T (n.593-1G>T) c.-23-1G>T (n.-23-1G>T) | |
19 | g.18075869C>G | CA404781907 | IL12RB1 | c.581-1G>C (n.581-1G>C) c.701-1G>C (n.701-1G>C) c.713-1G>C (n.713-1G>C) c.593-1G>C (n.593-1G>C) c.-23-1G>C (n.-23-1G>C) | |
19 | g.18075869C>T | CA404781909 | IL12RB1 | c.581-1G>A (n.581-1G>A) c.701-1G>A (n.701-1G>A) c.713-1G>A (n.713-1G>A) c.593-1G>A (n.593-1G>A) c.-23-1G>A (n.-23-1G>A) | |
19 | g.18075870T>A | CA404781911 | IL12RB1 | c.581-2A>T (n.581-2A>T) c.701-2A>T (n.701-2A>T) c.713-2A>T (n.713-2A>T) c.593-2A>T (n.593-2A>T) c.-23-2A>T (n.-23-2A>T) | |
19 | g.18075870T>C | CA404781913 | IL12RB1 | c.581-2A>G (n.581-2A>G) c.701-2A>G (n.701-2A>G) c.713-2A>G (n.713-2A>G) c.593-2A>G (n.593-2A>G) c.-23-2A>G (n.-23-2A>G) | |
19 | g.18075870T>G | CA404781914 | IL12RB1 | c.581-2A>C (n.581-2A>C) c.701-2A>C (n.701-2A>C) c.713-2A>C (n.713-2A>C) c.593-2A>C (n.593-2A>C) c.-23-2A>C (n.-23-2A>C) | |
19 | g.18075871G>A | CA2326173000 | IL12RB1 | c.581-3C>T (n.581-3C>T) c.701-3C>T (n.701-3C>T) c.713-3C>T (n.713-3C>T) c.593-3C>T (n.593-3C>T) c.-23-3C>T (n.-23-3C>T) | dbSNP |
19 | g.18075871G= | CA2326172999 | IL12RB1 | c.581-3C= (n.581-3C=) c.701-3C= (n.701-3C=) c.713-3C= (n.713-3C=) c.593-3C= (n.593-3C=) c.-23-3C= (n.-23-3C=) | |
19 | g.18075872G>A | CA645610247 | IL12RB1 | c.581-4C>T (n.581-4C>T) c.701-4C>T (n.701-4C>T) c.713-4C>T (n.713-4C>T) c.593-4C>T (n.593-4C>T) c.-23-4C>T (n.-23-4C>T) | gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.18075873G>T | CA2583512014 | IL12RB1 | c.581-5C>A (n.581-5C>A) c.701-5C>A (n.701-5C>A) c.713-5C>A (n.713-5C>A) c.593-5C>A (n.593-5C>A) c.-23-5C>A (n.-23-5C>A) | gnomAD v4 |
19 | g.18075874G>A | CA9305146 | IL12RB1 | c.581-6C>T (n.581-6C>T) c.701-6C>T (n.701-6C>T) c.713-6C>T (n.713-6C>T) c.593-6C>T (n.593-6C>T) c.-23-6C>T (n.-23-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18075874G= | CA2326173002 | IL12RB1 | c.581-6C= (n.581-6C=) c.701-6C= (n.701-6C=) c.713-6C= (n.713-6C=) c.593-6C= (n.593-6C=) c.-23-6C= (n.-23-6C=) | |
19 | g.18075876G>C | CA306164109 | IL12RB1 | c.581-8C>G (n.581-8C>G) c.701-8C>G (n.701-8C>G) c.713-8C>G (n.713-8C>G) c.593-8C>G (n.593-8C>G) c.-23-8C>G (n.-23-8C>G) | ClinVar dbSNP gnomAD v4 |
19 | g.18075876G= | CA2326173004 | IL12RB1 | c.581-8C= (n.581-8C=) c.701-8C= (n.701-8C=) c.713-8C= (n.713-8C=) c.593-8C= (n.593-8C=) c.-23-8C= (n.-23-8C=) | |
19 | g.18075879G>T | CA2583512015 | IL12RB1 | c.581-11C>A (n.581-11C>A) c.701-11C>A (n.701-11C>A) c.713-11C>A (n.713-11C>A) c.593-11C>A (n.593-11C>A) c.-23-11C>A (n.-23-11C>A) | gnomAD v4 |
19 | g.18075880C= | CA2326173005 | IL12RB1 | c.581-12G= (n.581-12G=) c.701-12G= (n.701-12G=) c.713-12G= (n.713-12G=) c.593-12G= (n.593-12G=) c.-23-12G= (n.-23-12G=) | |
19 | g.18075880C>T | CA306164111 | IL12RB1 | c.581-12G>A (n.581-12G>A) c.701-12G>A (n.701-12G>A) c.713-12G>A (n.713-12G>A) c.593-12G>A (n.593-12G>A) c.-23-12G>A (n.-23-12G>A) | ClinVar dbSNP |
19 | g.18075882G>A | CA2583512016 | IL12RB1 | c.581-14C>T (n.581-14C>T) c.701-14C>T (n.701-14C>T) c.713-14C>T (n.713-14C>T) c.593-14C>T (n.593-14C>T) c.-23-14C>T (n.-23-14C>T) | gnomAD v4 |
19 | g.18075882G>T | CA2576772552 | IL12RB1 | c.581-14C>A (n.581-14C>A) c.701-14C>A (n.701-14C>A) c.713-14C>A (n.713-14C>A) c.593-14C>A (n.593-14C>A) c.-23-14C>A (n.-23-14C>A) | |
19 | g.18075883G>A | CA783887496 | IL12RB1 | c.581-15C>T (n.581-15C>T) c.701-15C>T (n.701-15C>T) c.713-15C>T (n.713-15C>T) c.593-15C>T (n.593-15C>T) c.-23-15C>T (n.-23-15C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18075883G= | CA2326173008 | IL12RB1 | c.581-15C= (n.581-15C=) c.701-15C= (n.701-15C=) c.713-15C= (n.713-15C=) c.593-15C= (n.593-15C=) c.-23-15C= (n.-23-15C=) | |
19 | g.18075883G>T | CA2583512017 | IL12RB1 | c.581-15C>A (n.581-15C>A) c.701-15C>A (n.701-15C>A) c.713-15C>A (n.713-15C>A) c.593-15C>A (n.593-15C>A) c.-23-15C>A (n.-23-15C>A) | gnomAD v4 |
19 | g.18075884T>C | CA2583512018 | IL12RB1 | c.581-16A>G (n.581-16A>G) c.701-16A>G (n.701-16A>G) c.713-16A>G (n.713-16A>G) c.593-16A>G (n.593-16A>G) c.-23-16A>G (n.-23-16A>G) | gnomAD v4 |
19 | g.18075884T>G | CA9305147 | IL12RB1 | c.581-16A>C (n.581-16A>C) c.701-16A>C (n.701-16A>C) c.713-16A>C (n.713-16A>C) c.593-16A>C (n.593-16A>C) c.-23-16A>C (n.-23-16A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18075884T= | CA2326173010 | IL12RB1 | c.581-16A= (n.581-16A=) c.701-16A= (n.701-16A=) c.713-16A= (n.713-16A=) c.593-16A= (n.593-16A=) c.-23-16A= (n.-23-16A=) | |
19 | g.18075885C>A | CA2576772553 | IL12RB1 | c.581-17G>T (n.581-17G>T) c.701-17G>T (n.701-17G>T) c.713-17G>T (n.713-17G>T) c.593-17G>T (n.593-17G>T) c.-23-17G>T (n.-23-17G>T) | gnomAD v4 |
19 | g.18075885C= | CA2326173013 | IL12RB1 | c.581-17G= (n.581-17G=) c.701-17G= (n.701-17G=) c.713-17G= (n.713-17G=) c.593-17G= (n.593-17G=) c.-23-17G= (n.-23-17G=) | |
19 | g.18075885C>G | CA2580096740 | IL12RB1 | c.581-17G>C (n.581-17G>C) c.701-17G>C (n.701-17G>C) c.713-17G>C (n.713-17G>C) c.593-17G>C (n.593-17G>C) c.-23-17G>C (n.-23-17G>C) | ClinVar |
19 | g.18075885C>T | CA9305148 | IL12RB1 | c.581-17G>A (n.581-17G>A) c.701-17G>A (n.701-17G>A) c.713-17G>A (n.713-17G>A) c.593-17G>A (n.593-17G>A) c.-23-17G>A (n.-23-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075886G>A | CA9305149 | IL12RB1 | c.581-18C>T (n.581-18C>T) c.701-18C>T (n.701-18C>T) c.713-18C>T (n.713-18C>T) c.593-18C>T (n.593-18C>T) c.-23-18C>T (n.-23-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075886G>C | CA632093991 | IL12RB1 | c.581-18C>G (n.581-18C>G) c.701-18C>G (n.701-18C>G) c.713-18C>G (n.713-18C>G) c.593-18C>G (n.593-18C>G) c.-23-18C>G (n.-23-18C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075886G= | CA2326173016 | IL12RB1 | c.581-18C= (n.581-18C=) c.701-18C= (n.701-18C=) c.713-18C= (n.713-18C=) c.593-18C= (n.593-18C=) c.-23-18C= (n.-23-18C=) | |
19 | g.18075886G>T | CA2583512019 | IL12RB1 | c.581-18C>A (n.581-18C>A) c.701-18C>A (n.701-18C>A) c.713-18C>A (n.713-18C>A) c.593-18C>A (n.593-18C>A) c.-23-18C>A (n.-23-18C>A) | gnomAD v4 |
19 | g.18075887A= | CA2326173018 | IL12RB1 | c.581-19T= (n.581-19T=) c.701-19T= (n.701-19T=) c.713-19T= (n.713-19T=) c.593-19T= (n.593-19T=) c.-23-19T= (n.-23-19T=) | |
19 | g.18075887A>G | CA632093992 | IL12RB1 | c.581-19T>C (n.581-19T>C) c.701-19T>C (n.701-19T>C) c.713-19T>C (n.713-19T>C) c.593-19T>C (n.593-19T>C) c.-23-19T>C (n.-23-19T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075890A= | CA2326173021 | IL12RB1 | c.581-22T= (n.581-22T=) c.701-22T= (n.701-22T=) c.713-22T= (n.713-22T=) c.593-22T= (n.593-22T=) c.-23-22T= (n.-23-22T=) | |
19 | g.18075890A>G | CA9305150 | IL12RB1 | c.581-22T>C (n.581-22T>C) c.701-22T>C (n.701-22T>C) c.713-22T>C (n.713-22T>C) c.593-22T>C (n.593-22T>C) c.-23-22T>C (n.-23-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075891T>A | CA2583512020 | IL12RB1 | c.581-23A>T (n.581-23A>T) c.701-23A>T (n.701-23A>T) c.713-23A>T (n.713-23A>T) c.593-23A>T (n.593-23A>T) c.-23-23A>T (n.-23-23A>T) | gnomAD v4 |
19 | g.18075891T>C | CA2326173024 | IL12RB1 | c.581-23A>G (n.581-23A>G) c.701-23A>G (n.701-23A>G) c.713-23A>G (n.713-23A>G) c.593-23A>G (n.593-23A>G) c.-23-23A>G (n.-23-23A>G) | dbSNP |
19 | g.18075891T= | CA2326173023 | IL12RB1 | c.581-23A= (n.581-23A=) c.701-23A= (n.701-23A=) c.713-23A= (n.713-23A=) c.593-23A= (n.593-23A=) c.-23-23A= (n.-23-23A=) | |
19 | g.18075892C= | CA2326173028 | IL12RB1 | c.581-24G= (n.581-24G=) c.701-24G= (n.701-24G=) c.713-24G= (n.713-24G=) c.593-24G= (n.593-24G=) c.-23-24G= (n.-23-24G=) | |
19 | g.18075892C>G | CA783887522 | IL12RB1 | c.581-24G>C (n.581-24G>C) c.701-24G>C (n.701-24G>C) c.713-24G>C (n.713-24G>C) c.593-24G>C (n.593-24G>C) c.-23-24G>C (n.-23-24G>C) | dbSNP |
19 | g.18075894G>A | CA2583512021 | IL12RB1 | c.581-26C>T (n.581-26C>T) c.701-26C>T (n.701-26C>T) c.713-26C>T (n.713-26C>T) c.593-26C>T (n.593-26C>T) c.-23-26C>T (n.-23-26C>T) | gnomAD v4 |
19 | g.18075894G>T | CA2583512022 | IL12RB1 | c.581-26C>A (n.581-26C>A) c.701-26C>A (n.701-26C>A) c.713-26C>A (n.713-26C>A) c.593-26C>A (n.593-26C>A) c.-23-26C>A (n.-23-26C>A) | gnomAD v4 |
19 | g.18075895G>A | CA2326173032 | IL12RB1 | c.581-27C>T (n.581-27C>T) c.701-27C>T (n.701-27C>T) c.713-27C>T (n.713-27C>T) c.593-27C>T (n.593-27C>T) c.-23-27C>T (n.-23-27C>T) | dbSNP |
19 | g.18075895G= | CA2326173030 | IL12RB1 | c.581-27C= (n.581-27C=) c.701-27C= (n.701-27C=) c.713-27C= (n.713-27C=) c.593-27C= (n.593-27C=) c.-23-27C= (n.-23-27C=) | |
19 | g.18075895G>T | CA2576772554 | IL12RB1 | c.581-27C>A (n.581-27C>A) c.701-27C>A (n.701-27C>A) c.713-27C>A (n.713-27C>A) c.593-27C>A (n.593-27C>A) c.-23-27C>A (n.-23-27C>A) | |
19 | g.18075896C= | CA2326173034 | IL12RB1 | c.581-28G= (n.581-28G=) c.701-28G= (n.701-28G=) c.713-28G= (n.713-28G=) c.593-28G= (n.593-28G=) c.-23-28G= (n.-23-28G=) | |
19 | g.18075896C>T | CA2326173035 | IL12RB1 | c.581-28G>A (n.581-28G>A) c.701-28G>A (n.701-28G>A) c.713-28G>A (n.713-28G>A) c.593-28G>A (n.593-28G>A) c.-23-28G>A (n.-23-28G>A) | dbSNP |
19 | g.18075897dup | CA632093993 | IL12RB1 | c.581-28dup (n.581-28dup) c.701-28dup (n.701-28dup) c.713-28dup (n.713-28dup) c.593-28dup (n.593-28dup) c.-23-28dup (n.-23-28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075897C>A | CA9305151 | IL12RB1 | c.581-29G>T (n.581-29G>T) c.701-29G>T (n.701-29G>T) c.713-29G>T (n.713-29G>T) c.593-29G>T (n.593-29G>T) c.-23-29G>T (n.-23-29G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075897C= | CA2326173038 | IL12RB1 | c.581-29G= (n.581-29G=) c.701-29G= (n.701-29G=) c.713-29G= (n.713-29G=) c.593-29G= (n.593-29G=) c.-23-29G= (n.-23-29G=) | |
19 | g.18075897C>G | CA9305152 | IL12RB1 | c.581-29G>C (n.581-29G>C) c.701-29G>C (n.701-29G>C) c.713-29G>C (n.713-29G>C) c.593-29G>C (n.593-29G>C) c.-23-29G>C (n.-23-29G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18075897C>T | CA306164117 | IL12RB1 | c.581-29G>A (n.581-29G>A) c.701-29G>A (n.701-29G>A) c.713-29G>A (n.713-29G>A) c.593-29G>A (n.593-29G>A) c.-23-29G>A (n.-23-29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075898G>A | CA9305153 | IL12RB1 | c.581-30C>T (n.581-30C>T) c.701-30C>T (n.701-30C>T) c.713-30C>T (n.713-30C>T) c.593-30C>T (n.593-30C>T) c.-23-30C>T (n.-23-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075898G= | CA2326173043 | IL12RB1 | c.581-30C= (n.581-30C=) c.701-30C= (n.701-30C=) c.713-30C= (n.713-30C=) c.593-30C= (n.593-30C=) c.-23-30C= (n.-23-30C=) | |
19 | g.18075898G>T | CA306164120 | IL12RB1 | c.581-30C>A (n.581-30C>A) c.701-30C>A (n.701-30C>A) c.713-30C>A (n.713-30C>A) c.593-30C>A (n.593-30C>A) c.-23-30C>A (n.-23-30C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075899T>G | CA2583512023 | IL12RB1 | c.581-31A>C (n.581-31A>C) c.701-31A>C (n.701-31A>C) c.713-31A>C (n.713-31A>C) c.593-31A>C (n.593-31A>C) c.-23-31A>C (n.-23-31A>C) | gnomAD v4 |
19 | g.18075899dup | CA2326173045 | IL12RB1 | c.581-31dup (n.581-31dup) c.701-31dup (n.701-31dup) c.713-31dup (n.713-31dup) c.593-31dup (n.593-31dup) c.-23-31dup (n.-23-31dup) | dbSNP gnomAD v4 |
19 | g.18075900A>G | CA2583512024 | IL12RB1 | c.581-32T>C (n.581-32T>C) c.701-32T>C (n.701-32T>C) c.713-32T>C (n.713-32T>C) c.593-32T>C (n.593-32T>C) c.-23-32T>C (n.-23-32T>C) | gnomAD v4 |
19 | g.18075901del | CA2576772555 | IL12RB1 | c.581-32del (n.581-32del) c.701-32del (n.701-32del) c.713-32del (n.713-32del) c.593-32del (n.593-32del) c.-23-32del (n.-23-32del) | |
19 | g.18075902G>A | CA632093998 | IL12RB1 | c.581-34C>T (n.581-34C>T) c.701-34C>T (n.701-34C>T) c.713-34C>T (n.713-34C>T) c.593-34C>T (n.593-34C>T) c.-23-34C>T (n.-23-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18075902G= | CA2326173046 | IL12RB1 | c.581-34C= (n.581-34C=) c.701-34C= (n.701-34C=) c.713-34C= (n.713-34C=) c.593-34C= (n.593-34C=) c.-23-34C= (n.-23-34C=) | |
19 | g.18075902G>T | CA2583512025 | IL12RB1 | c.581-34C>A (n.581-34C>A) c.701-34C>A (n.701-34C>A) c.713-34C>A (n.713-34C>A) c.593-34C>A (n.593-34C>A) c.-23-34C>A (n.-23-34C>A) | gnomAD v4 |
19 | g.18075903A= | CA2326173048 | IL12RB1 | c.581-35T= (n.581-35T=) c.701-35T= (n.701-35T=) c.713-35T= (n.713-35T=) c.593-35T= (n.593-35T=) c.-23-35T= (n.-23-35T=) | |
19 | g.18075903A>C | CA306164122 | IL12RB1 | c.581-35T>G (n.581-35T>G) c.701-35T>G (n.701-35T>G) c.713-35T>G (n.713-35T>G) c.593-35T>G (n.593-35T>G) c.-23-35T>G (n.-23-35T>G) | dbSNP gnomAD v4 |
19 | g.18075903A>G | CA2583512026 | IL12RB1 | c.581-35T>C (n.581-35T>C) c.701-35T>C (n.701-35T>C) c.713-35T>C (n.713-35T>C) c.593-35T>C (n.593-35T>C) c.-23-35T>C (n.-23-35T>C) | gnomAD v4 |
19 | g.18075905T>C | CA2583512027 | IL12RB1 | c.581-37A>G (n.581-37A>G) c.701-37A>G (n.701-37A>G) c.713-37A>G (n.713-37A>G) c.593-37A>G (n.593-37A>G) c.-23-37A>G (n.-23-37A>G) | gnomAD v4 |
19 | g.18075905T>G | CA783887545 | IL12RB1 | c.581-37A>C (n.581-37A>C) c.701-37A>C (n.701-37A>C) c.713-37A>C (n.713-37A>C) c.593-37A>C (n.593-37A>C) c.-23-37A>C (n.-23-37A>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18075905T= | CA2326173049 | IL12RB1 | c.581-37A= (n.581-37A=) c.701-37A= (n.701-37A=) c.713-37A= (n.713-37A=) c.593-37A= (n.593-37A=) c.-23-37A= (n.-23-37A=) | |
19 | g.18075907G>A | CA632093999 | IL12RB1 | c.581-39C>T (n.581-39C>T) c.701-39C>T (n.701-39C>T) c.713-39C>T (n.713-39C>T) c.593-39C>T (n.593-39C>T) c.-23-39C>T (n.-23-39C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075907G= | CA2326173050 | IL12RB1 | c.581-39C= (n.581-39C=) c.701-39C= (n.701-39C=) c.713-39C= (n.713-39C=) c.593-39C= (n.593-39C=) c.-23-39C= (n.-23-39C=) | |
19 | g.18075907G>T | CA2583512028 | IL12RB1 | c.581-39C>A (n.581-39C>A) c.701-39C>A (n.701-39C>A) c.713-39C>A (n.713-39C>A) c.593-39C>A (n.593-39C>A) c.-23-39C>A (n.-23-39C>A) | gnomAD v4 |
19 | g.18075908T>A | CA632094000 | IL12RB1 | c.581-40A>T (n.581-40A>T) c.701-40A>T (n.701-40A>T) c.713-40A>T (n.713-40A>T) c.593-40A>T (n.593-40A>T) c.-23-40A>T (n.-23-40A>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18075908T= | CA2326173053 | IL12RB1 | c.581-40A= (n.581-40A=) c.701-40A= (n.701-40A=) c.713-40A= (n.713-40A=) c.593-40A= (n.593-40A=) c.-23-40A= (n.-23-40A=) |