Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.111362908_111362985del | CA951847075 | PHETA1 | c.449_526del (p.Pro150_Pro175del) c.488_565del (p.Pro163_Pro188del) | gnomAD v3 gnomAD v4 |
12 | g.111362907_111362930delinsAGGGGCAGGGCTGGGACCGGGGCT | CA2063289332 | PHETA1 | c.498_521delinsAGCCCCGGTCCCAGCCCTGCCCCT (p.Pro166=) c.537_560delinsAGCCCCGGTCCCAGCCCTGCCCCT (p.Pro179=) | |
12 | g.111362915_111362937del | CA2063289333 | PHETA1 | c.498_520del (p.Val169ProfsTer18) c.537_559del (p.Val182ProfsTer18) | dbSNP gnomAD v4 |
12 | g.111362917_111362946dup | CA6789414 | PHETA1 | c.489_518dup (p.Pro173_Leu174insSerAlaProAlaProValProAlaLeuPro) c.528_557dup (p.Pro186_Leu187insSerAlaProAlaProValProAlaLeuPro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.111362917_111362947delinsCTGGGACCGGGGCTGGGGCAGAAGGCAGGGA | CA2063289341 | PHETA1 | c.481_511delinsTCCCTGCCTTCTGCCCCAGCCCCGGTCCCAG (p.Ser161=) c.520_550delinsTCCCTGCCTTCTGCCCCAGCCCCGGTCCCAG (p.Ser174=) | |
12 | g.111362924_111362953del | CA683614508 | PHETA1 | c.481_510del (p.Ser161_Pro170del) c.520_549del (p.Ser174_Pro183del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.111362924_111362954delinsCGGGGCTGGGGCAGAAGGCAGGGATGGGACT | CA2063289346 | PHETA1 | c.474_504delinsAGTCCCATCCCTGCCTTCTGCCCCAGCCCCG (p.Pro158=) c.513_543delinsAGTCCCATCCCTGCCTTCTGCCCCAGCCCCG (p.Pro171=) | |
12 | g.111362928del | CA2620928807 | PHETA1 | c.503del (p.Pro168ArgfsTer?) c.542del (p.Pro181ArgfsTer?) | gnomAD v4 |
12 | g.111362930_111362959del | CA951847083 | PHETA1 | c.474_503del (p.Val159_Pro168del) c.513_542del (p.Val172_Pro181del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.111362928G>A | CA243614934 | PHETA1 | c.500C>T (p.Ala167Val) c.539C>T (p.Ala180Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.111362928G>C | CA386726113 | PHETA1 | c.500C>G (p.Ala167Gly) c.539C>G (p.Ala180Gly) | gnomAD v4 |
12 | g.111362928G= | CA2063289348 | PHETA1 | c.500C= (p.Ala167=) c.539C= (p.Ala180=) | |
12 | g.111362928G>T | CA386726115 | PHETA1 | c.500C>A (p.Ala167Asp) c.539C>A (p.Ala180Asp) | gnomAD v4 |
12 | g.111362929C>A | CA386726117 | PHETA1 | c.499G>T (p.Ala167Ser) c.538G>T (p.Ala180Ser) | dbSNP gnomAD v4 |
12 | g.111362929C>G | CA386726120 | PHETA1 | c.499G>C (p.Ala167Pro) c.538G>C (p.Ala180Pro) | |
12 | g.111362929C>T | CA386726122 | PHETA1 | c.499G>A (p.Ala167Thr) c.538G>A (p.Ala180Thr) | |
12 | g.111362930T>A | CA481871060 | PHETA1 | c.498A>T (p.Pro166=) c.537A>T (p.Pro179=) | |
12 | g.111362930T>C | CA481871059 | PHETA1 | c.498A>G (p.Pro166=) c.537A>G (p.Pro179=) | dbSNP gnomAD v4 |
12 | g.111362930T>G | CA481871058 | PHETA1 | c.498A>C (p.Pro166=) c.537A>C (p.Pro179=) | dbSNP gnomAD v4 |
12 | g.111362930T= | CA2063289349 | PHETA1 | c.498A= (p.Pro166=) c.537A= (p.Pro179=) | |
12 | g.111362931G>A | CA386726124 | PHETA1 | c.497C>T (p.Pro166Leu) c.536C>T (p.Pro179Leu) | dbSNP |
12 | g.111362931G>C | CA386726125 | PHETA1 | c.497C>G (p.Pro166Arg) c.536C>G (p.Pro179Arg) | |
12 | g.111362931G= | CA2063289350 | PHETA1 | c.497C= (p.Pro166=) c.536C= (p.Pro179=) | |
12 | g.111362931G>T | CA386726126 | PHETA1 | c.497C>A (p.Pro166Gln) c.536C>A (p.Pro179Gln) | gnomAD v4 |
12 | g.111362934del | CA2620928808 | PHETA1 | c.497del (p.Pro166GlnfsTer?) c.536del (p.Pro179GlnfsTer?) | gnomAD v4 |
12 | g.111362931_111362960dup | CA951847086 | PHETA1 | c.468_497dup (p.Pro166_Ala167insAlaProValProSerLeuProSerAlaPro) c.507_536dup (p.Pro179_Ala180insAlaProValProSerLeuProSerAlaPro) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.111362932G>A | CA386726128 | PHETA1 | c.496C>T (p.Pro166Ser) c.535C>T (p.Pro179Ser) | gnomAD v4 |
12 | g.111362932G>C | CA386726130 | PHETA1 | c.496C>G (p.Pro166Ala) c.535C>G (p.Pro179Ala) | |
12 | g.111362932G>T | CA386726131 | PHETA1 | c.496C>A (p.Pro166Thr) c.535C>A (p.Pro179Thr) | gnomAD v4 |
12 | g.111362933G>A | CA481871061 | PHETA1 | c.495C>T (p.Ala165=) c.534C>T (p.Ala178=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.111362933G>C | CA481871062 | PHETA1 | c.495C>G (p.Ala165=) c.534C>G (p.Ala178=) | |
12 | g.111362933G= | CA2063289351 | PHETA1 | c.495C= (p.Ala165=) c.534C= (p.Ala178=) | |
12 | g.111362933G>T | CA481871063 | PHETA1 | c.495C>A (p.Ala165=) c.534C>A (p.Ala178=) | gnomAD v4 |
12 | g.111362934G>A | CA386726133 | PHETA1 | c.494C>T (p.Ala165Val) c.533C>T (p.Ala178Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.111362934G>C | CA386726135 | PHETA1 | c.494C>G (p.Ala165Gly) c.533C>G (p.Ala178Gly) | |
12 | g.111362934G= | CA2063289352 | PHETA1 | c.494C= (p.Ala165=) c.533C= (p.Ala178=) | |
12 | g.111362934G>T | CA386726134 | PHETA1 | c.494C>A (p.Ala165Asp) c.533C>A (p.Ala178Asp) | gnomAD v4 |
12 | g.111362935C>A | CA386726137 | PHETA1 | c.493G>T (p.Ala165Ser) c.532G>T (p.Ala178Ser) | gnomAD v4 |
12 | g.111362935C= | CA2063289353 | PHETA1 | c.493G= (p.Ala165=) c.532G= (p.Ala178=) | |
12 | g.111362935C>G | CA386726139 | PHETA1 | c.493G>C (p.Ala165Pro) c.532G>C (p.Ala178Pro) | dbSNP gnomAD v4 |
12 | g.111362935C>T | CA386726140 | PHETA1 | c.493G>A (p.Ala165Thr) c.532G>A (p.Ala178Thr) | gnomAD v4 |
12 | g.111362936A>C | CA481871064 | PHETA1 | c.492T>G (p.Ser164=) c.531T>G (p.Ser177=) | |
12 | g.111362936A>G | CA481871066 | PHETA1 | c.492T>C (p.Ser164=) c.531T>C (p.Ser177=) | |
12 | g.111362936A>T | CA481871065 | PHETA1 | c.492T>A (p.Ser164=) c.531T>A (p.Ser177=) | |
12 | g.111362937G>A | CA386726142 | PHETA1 | c.491C>T (p.Ser164Phe) c.530C>T (p.Ser177Phe) | |
12 | g.111362937G>C | CA386726143 | PHETA1 | c.491C>G (p.Ser164Cys) c.530C>G (p.Ser177Cys) | |
12 | g.111362937G>T | CA386726144 | PHETA1 | c.491C>A (p.Ser164Tyr) c.530C>A (p.Ser177Tyr) | gnomAD v4 |
12 | g.111362938A>C | CA386726145 | PHETA1 | c.490T>G (p.Ser164Ala) c.529T>G (p.Ser177Ala) | |
12 | g.111362938A>G | CA386726147 | PHETA1 | c.490T>C (p.Ser164Pro) c.529T>C (p.Ser177Pro) | gnomAD v4 |
12 | g.111362938A>T | CA386726149 | PHETA1 | c.490T>A (p.Ser164Thr) c.529T>A (p.Ser177Thr) |