Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.72059151_72063259del | CA645372599 | TXNL4B | c.285-18901_285-14793del (n.285-18901_285-14793del) | ClinVar |
16 | g.72060222C>A | CA396676601 | HP,TXNL4B | c.553C>A (p.Leu185Ile) c.178C>A (p.Leu60Ile) c.661C>A (p.Leu221Ile) c.376C>A (p.Leu126Ile) c.285-15865G>T (n.285-15865G>T) c.266-441C>A (n.266-441C>A) c.266-10C>A (n.266-10C>A) n.2192C>A c.545C>A c.438-10C>A | |
16 | g.72060222C= | CA2231555159 | HP,TXNL4B | c.553C= (p.Leu185=) c.178C= (p.Leu60=) c.661C= (p.Leu221=) c.376C= (p.Leu126=) c.285-15865G= (n.285-15865G=) c.266-441C= (n.266-441C=) c.266-10C= (n.266-10C=) n.2192C= c.545C= c.438-10C= | |
16 | g.72060222C>G | CA396676604 | HP,TXNL4B | c.553C>G (p.Leu185Val) c.178C>G (p.Leu60Val) c.661C>G (p.Leu221Val) c.376C>G (p.Leu126Val) c.285-15865G>C (n.285-15865G>C) c.266-441C>G (n.266-441C>G) c.266-10C>G (n.266-10C>G) n.2192C>G c.545C>G c.438-10C>G | |
16 | g.72060222C>T | CA396676606 | HP,TXNL4B | c.553C>T (p.Leu185Phe) c.178C>T (p.Leu60Phe) c.661C>T (p.Leu221Phe) c.376C>T (p.Leu126Phe) c.285-15865G>A (n.285-15865G>A) c.266-441C>T (n.266-441C>T) c.266-10C>T (n.266-10C>T) n.2192C>T c.545C>T c.438-10C>T | dbSNP |
16 | g.72060222_72060223delinsCT | CA2231555158 | HP,TXNL4B | c.553_554delinsCT (p.Leu185=) c.178_179delinsCT (p.Leu60=) c.661_662delinsCT (p.Leu221=) c.376_377delinsCT (p.Leu126=) c.285-15866_285-15865delinsAG (n.285-15866_285-15865delinsAG) c.266-441_266-440delinsCT (n.266-441_266-440delinsCT) c.266-10_266-9delinsCT (n.266-10_266-9delinsCT) n.2192_2193delinsCT c.545_546delinsCT c.438-10_438-9delinsCT | |
16 | g.72060223_72060238del | CA645575942 | HP,TXNL4B | c.554_569del (p.Leu185ArgfsTer2) c.179_194del (p.Leu60ArgfsTer2) c.662_677del (p.Leu221ArgfsTer2) c.377_392del (p.Leu126ArgfsTer2) c.285-15880_285-15865del (n.285-15880_285-15865del) c.266-440_266-425del (n.266-440_266-425del) c.266-9_272del n.2193_2208del c.546_561del c.438-9_444del | COSMIC |
16 | g.72060223del | CA283640644 | HP,TXNL4B | c.554del (p.Leu185ProfsTer7) c.179del (p.Leu60ProfsTer7) c.662del (p.Leu221ProfsTer7) c.377del (p.Leu126ProfsTer7) c.285-15866del (n.285-15866del) c.266-440del (n.266-440del) c.266-9del (n.266-9del) n.2193del c.546del c.438-9del | dbSNP gnomAD v4 |
16 | g.72060223T>A | CA396676609 | HP,TXNL4B | c.554T>A (p.Leu185His) c.179T>A (p.Leu60His) c.662T>A (p.Leu221His) c.377T>A (p.Leu126His) c.285-15866A>T (n.285-15866A>T) c.266-440T>A (n.266-440T>A) c.266-9T>A (n.266-9T>A) n.2193T>A c.546T>A c.438-9T>A | |
16 | g.72060223T>C | CA396676611 | HP,TXNL4B | c.554T>C (p.Leu185Pro) c.179T>C (p.Leu60Pro) c.662T>C (p.Leu221Pro) c.377T>C (p.Leu126Pro) c.285-15866A>G (n.285-15866A>G) c.266-440T>C (n.266-440T>C) c.266-9T>C (n.266-9T>C) n.2193T>C c.546T>C c.438-9T>C | COSMIC |
16 | g.72060223T>G | CA396676613 | HP,TXNL4B | c.554T>G (p.Leu185Arg) c.179T>G (p.Leu60Arg) c.662T>G (p.Leu221Arg) c.377T>G (p.Leu126Arg) c.285-15866A>C (n.285-15866A>C) c.266-440T>G (n.266-440T>G) c.266-9T>G (n.266-9T>G) n.2193T>G c.546T>G c.438-9T>G | |
16 | g.72060224C>A | CA496414587 | HP,TXNL4B | c.555C>A (p.Leu185=) c.180C>A (p.Leu60=) c.663C>A (p.Leu221=) c.378C>A (p.Leu126=) c.285-15867G>T (n.285-15867G>T) c.266-439C>A (n.266-439C>A) c.266-8C>A (n.266-8C>A) n.2194C>A c.547C>A c.438-8C>A | |
16 | g.72060224C>G | CA496414588 | HP,TXNL4B | c.555C>G (p.Leu185=) c.180C>G (p.Leu60=) c.663C>G (p.Leu221=) c.378C>G (p.Leu126=) c.285-15867G>C (n.285-15867G>C) c.266-439C>G (n.266-439C>G) c.266-8C>G (n.266-8C>G) n.2194C>G c.547C>G c.438-8C>G | |
16 | g.72060224C>T | CA496414589 | HP,TXNL4B | c.555C>T (p.Leu185=) c.180C>T (p.Leu60=) c.663C>T (p.Leu221=) c.378C>T (p.Leu126=) c.285-15867G>A (n.285-15867G>A) c.266-439C>T (n.266-439C>T) c.266-8C>T (n.266-8C>T) n.2194C>T c.547C>T c.438-8C>T | |
16 | g.72060225A>C | CA396676616 | HP,TXNL4B | c.556A>C (p.Thr186Pro) c.181A>C (p.Thr61Pro) c.664A>C (p.Thr222Pro) c.379A>C (p.Thr127Pro) c.285-15868T>G (n.285-15868T>G) c.266-438A>C (n.266-438A>C) c.266-7A>C (n.266-7A>C) n.2195A>C c.548A>C c.438-7A>C | |
16 | g.72060225A>G | CA396676620 | HP,TXNL4B | c.556A>G (p.Thr186Ala) c.181A>G (p.Thr61Ala) c.664A>G (p.Thr222Ala) c.379A>G (p.Thr127Ala) c.285-15868T>C (n.285-15868T>C) c.266-438A>G (n.266-438A>G) c.266-7A>G (n.266-7A>G) n.2195A>G c.548A>G c.438-7A>G | |
16 | g.72060225A>T | CA396676622 | HP,TXNL4B | c.556A>T (p.Thr186Ser) c.181A>T (p.Thr61Ser) c.664A>T (p.Thr222Ser) c.379A>T (p.Thr127Ser) c.285-15868T>A (n.285-15868T>A) c.266-438A>T (n.266-438A>T) c.266-7A>T (n.266-7A>T) n.2195A>T c.548A>T c.438-7A>T | |
16 | g.72060225_72060226delinsAC | CA2231555160 | HP,TXNL4B | c.556_557delinsAC (p.Thr186=) c.181_182delinsAC (p.Thr61=) c.664_665delinsAC (p.Thr222=) c.379_380delinsAC (p.Thr127=) c.285-15869_285-15868delinsGT (n.285-15869_285-15868delinsGT) c.266-438_266-437delinsAC (n.266-438_266-437delinsAC) c.266-7_266-6delinsAC (n.266-7_266-6delinsAC) n.2195_2196delinsAC c.548_549delinsAC c.438-7_438-6delinsAC | |
16 | g.72060226C>A | CA396676626 | HP,TXNL4B | c.557C>A (p.Thr186Asn) c.182C>A (p.Thr61Asn) c.665C>A (p.Thr222Asn) c.380C>A (p.Thr127Asn) c.285-15869G>T (n.285-15869G>T) c.266-437C>A (n.266-437C>A) c.266-6C>A (n.266-6C>A) n.2196C>A c.549C>A c.438-6C>A | |
16 | g.72060226C>G | CA396676628 | HP,TXNL4B | c.557C>G (p.Thr186Ser) c.182C>G (p.Thr61Ser) c.665C>G (p.Thr222Ser) c.380C>G (p.Thr127Ser) c.285-15869G>C (n.285-15869G>C) c.266-437C>G (n.266-437C>G) c.266-6C>G (n.266-6C>G) n.2196C>G c.549C>G c.438-6C>G | |
16 | g.72060226C>T | CA396676630 | HP,TXNL4B | c.557C>T (p.Thr186Ile) c.182C>T (p.Thr61Ile) c.665C>T (p.Thr222Ile) c.380C>T (p.Thr127Ile) c.285-15869G>A (n.285-15869G>A) c.266-437C>T (n.266-437C>T) c.266-6C>T (n.266-6C>T) n.2196C>T c.549C>T c.438-6C>T | gnomAD v4 |
16 | g.72060227del | CA623580372 | HP,TXNL4B | c.558del (p.Thr187GlnfsTer5) c.183del (p.Thr62GlnfsTer5) c.666del (p.Thr223GlnfsTer5) c.381del (p.Thr128GlnfsTer5) c.285-15869del (n.285-15869del) c.266-436del (n.266-436del) c.266-5del (n.266-5del) n.2197del c.550del c.438-5del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060227C>A | CA496414590 | HP,TXNL4B | c.558C>A (p.Thr186=) c.183C>A (p.Thr61=) c.666C>A (p.Thr222=) c.381C>A (p.Thr127=) c.285-15870G>T (n.285-15870G>T) c.266-436C>A (n.266-436C>A) c.266-5C>A (n.266-5C>A) n.2197C>A c.550C>A c.438-5C>A | |
16 | g.72060227C= | CA2231555161 | HP,TXNL4B | c.558C= (p.Thr186=) c.183C= (p.Thr61=) c.666C= (p.Thr222=) c.381C= (p.Thr127=) c.285-15870G= (n.285-15870G=) c.266-436C= (n.266-436C=) c.266-5C= (n.266-5C=) n.2197C= c.550C= c.438-5C= | |
16 | g.72060227C>G | CA496414591 | HP,TXNL4B | c.558C>G (p.Thr186=) c.183C>G (p.Thr61=) c.666C>G (p.Thr222=) c.381C>G (p.Thr127=) c.285-15870G>C (n.285-15870G>C) c.266-436C>G (n.266-436C>G) c.266-5C>G (n.266-5C>G) n.2197C>G c.550C>G c.438-5C>G | |
16 | g.72060227C>T | CA8159135 | HP,TXNL4B | c.558C>T (p.Thr186=) c.183C>T (p.Thr61=) c.666C>T (p.Thr222=) c.381C>T (p.Thr127=) c.285-15870G>A (n.285-15870G>A) c.266-436C>T (n.266-436C>T) c.266-5C>T (n.266-5C>T) n.2197C>T c.550C>T c.438-5C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060228A= | CA2231555162 | HP,TXNL4B | c.559A= (p.Thr187=) c.184A= (p.Thr62=) c.667A= (p.Thr223=) c.382A= (p.Thr128=) c.285-15871T= (n.285-15871T=) c.266-435A= (n.266-435A=) c.266-4A= (n.266-4A=) n.2198A= c.551A= c.438-4A= | |
16 | g.72060228A>C | CA396676637 | HP,TXNL4B | c.559A>C (p.Thr187Pro) c.184A>C (p.Thr62Pro) c.667A>C (p.Thr223Pro) c.382A>C (p.Thr128Pro) c.285-15871T>G (n.285-15871T>G) c.266-435A>C (n.266-435A>C) c.266-4A>C (n.266-4A>C) n.2198A>C c.551A>C c.438-4A>C | |
16 | g.72060228A>G | CA8159136 | HP,TXNL4B | c.559A>G (p.Thr187Ala) c.184A>G (p.Thr62Ala) c.667A>G (p.Thr223Ala) c.382A>G (p.Thr128Ala) c.285-15871T>C (n.285-15871T>C) c.266-435A>G (n.266-435A>G) c.266-4A>G (n.266-4A>G) n.2198A>G c.551A>G c.438-4A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060228A>T | CA396676640 | HP,TXNL4B | c.559A>T (p.Thr187Ser) c.184A>T (p.Thr62Ser) c.667A>T (p.Thr223Ser) c.382A>T (p.Thr128Ser) c.285-15871T>A (n.285-15871T>A) c.266-435A>T (n.266-435A>T) c.266-4A>T (n.266-4A>T) n.2198A>T c.551A>T c.438-4A>T | |
16 | g.72060229C>A | CA396676643 | HP,TXNL4B | c.560C>A (p.Thr187Lys) c.185C>A (p.Thr62Lys) c.668C>A (p.Thr223Lys) c.383C>A (p.Thr128Lys) c.285-15872G>T (n.285-15872G>T) c.266-434C>A (n.266-434C>A) c.266-3C>A (n.266-3C>A) n.2199C>A c.552C>A c.438-3C>A | |
16 | g.72060229C>G | CA396676645 | HP,TXNL4B | c.560C>G (p.Thr187Arg) c.185C>G (p.Thr62Arg) c.668C>G (p.Thr223Arg) c.383C>G (p.Thr128Arg) c.285-15872G>C (n.285-15872G>C) c.266-434C>G (n.266-434C>G) c.266-3C>G (n.266-3C>G) n.2199C>G c.552C>G c.438-3C>G | |
16 | g.72060229C>T | CA396676646 | HP,TXNL4B | c.560C>T (p.Thr187Ile) c.185C>T (p.Thr62Ile) c.668C>T (p.Thr223Ile) c.383C>T (p.Thr128Ile) c.285-15872G>A (n.285-15872G>A) c.266-434C>T (n.266-434C>T) c.266-3C>T (n.266-3C>T) n.2199C>T c.552C>T c.438-3C>T | |
16 | g.72060230A>C | CA396676650 | HP,TXNL4B | c.561A>C (p.Thr187=) c.186A>C (p.Thr62=) c.669A>C (p.Thr223=) c.384A>C (p.Thr128=) c.285-15873T>G (n.285-15873T>G) c.266-433A>C (n.266-433A>C) c.266-2A>C (n.266-2A>C) n.2200A>C c.553A>C c.438-2A>C | |
16 | g.72060230A>G | CA396676652 | HP,TXNL4B | c.561A>G (p.Thr187=) c.186A>G (p.Thr62=) c.669A>G (p.Thr223=) c.384A>G (p.Thr128=) c.285-15873T>C (n.285-15873T>C) c.266-433A>G (n.266-433A>G) c.266-2A>G (n.266-2A>G) n.2200A>G c.553A>G c.438-2A>G | |
16 | g.72060230A>T | CA396676655 | HP,TXNL4B | c.561A>T (p.Thr187=) c.186A>T (p.Thr62=) c.669A>T (p.Thr223=) c.384A>T (p.Thr128=) c.285-15873T>A (n.285-15873T>A) c.266-433A>T (n.266-433A>T) c.266-2A>T (n.266-2A>T) n.2200A>T c.553A>T c.438-2A>T | |
16 | g.72060231G>A | CA396676658 | HP,TXNL4B | c.562G>A (p.Gly188Ser) c.187G>A (p.Gly63Ser) c.670G>A (p.Gly224Ser) c.385G>A (p.Gly129Ser) c.285-15874C>T (n.285-15874C>T) c.266-432G>A (n.266-432G>A) c.266-1G>A (n.266-1G>A) n.2201G>A c.554G>A c.438-1G>A | |
16 | g.72060231G>C | CA396676660 | HP,TXNL4B | c.562G>C (p.Gly188Arg) c.187G>C (p.Gly63Arg) c.670G>C (p.Gly224Arg) c.385G>C (p.Gly129Arg) c.285-15874C>G (n.285-15874C>G) c.266-432G>C (n.266-432G>C) c.266-1G>C (n.266-1G>C) n.2201G>C c.554G>C c.438-1G>C | |
16 | g.72060231G= | CA2231555163 | HP,TXNL4B | c.562G= (p.Gly188=) c.187G= (p.Gly63=) c.670G= (p.Gly224=) c.385G= (p.Gly129=) c.285-15874C= (n.285-15874C=) c.266-432G= (n.266-432G=) c.266-1G= (n.266-1G=) n.2201G= c.554G= c.438-1G= | |
16 | g.72060231G>T | CA396676663 | HP,TXNL4B | c.562G>T (p.Gly188Cys) c.187G>T (p.Gly63Cys) c.670G>T (p.Gly224Cys) c.385G>T (p.Gly129Cys) c.285-15874C>A (n.285-15874C>A) c.266-432G>T (n.266-432G>T) c.266-1G>T (n.266-1G>T) n.2201G>T c.554G>T c.438-1G>T | dbSNP gnomAD v4 |
16 | g.72060232G>A | CA396676666 | HP,TXNL4B | c.563G>A (p.Gly188Asp) c.188G>A (p.Gly63Asp) c.671G>A (p.Gly224Asp) c.386G>A (p.Gly129Asp) c.285-15875C>T (n.285-15875C>T) c.266-431G>A (n.266-431G>A) c.266G>A (p.Gly89Asp) n.2202G>A c.555G>A c.438G>A | dbSNP |
16 | g.72060232G>C | CA396676669 | HP,TXNL4B | c.563G>C (p.Gly188Ala) c.188G>C (p.Gly63Ala) c.671G>C (p.Gly224Ala) c.386G>C (p.Gly129Ala) c.285-15875C>G (n.285-15875C>G) c.266-431G>C (n.266-431G>C) c.266G>C (p.Gly89Ala) n.2202G>C c.555G>C c.438G>C | gnomAD v4 |
16 | g.72060232G= | CA2231555164 | HP,TXNL4B | c.563G= (p.Gly188=) c.188G= (p.Gly63=) c.671G= (p.Gly224=) c.386G= (p.Gly129=) c.285-15875C= (n.285-15875C=) c.266-431G= (n.266-431G=) c.266G= (p.Gly89=) n.2202G= c.555G= c.438G= | |
16 | g.72060232G>T | CA396676671 | HP,TXNL4B | c.563G>T (p.Gly188Val) c.188G>T (p.Gly63Val) c.671G>T (p.Gly224Val) c.386G>T (p.Gly129Val) c.285-15875C>A (n.285-15875C>A) c.266-431G>T (n.266-431G>T) c.266G>T (p.Gly89Val) n.2202G>T c.555G>T c.438G>T | |
16 | g.72060233T>A | CA496414592 | HP,TXNL4B | c.564T>A (p.Gly188=) c.189T>A (p.Gly63=) c.672T>A (p.Gly224=) c.387T>A (p.Gly129=) c.285-15876A>T (n.285-15876A>T) c.266-430T>A (n.266-430T>A) c.267T>A (p.Gly89=) n.2203T>A c.556T>A c.439T>A | |
16 | g.72060233T>C | CA283640656 | HP,TXNL4B | c.564T>C (p.Gly188=) c.189T>C (p.Gly63=) c.672T>C (p.Gly224=) c.387T>C (p.Gly129=) c.285-15876A>G (n.285-15876A>G) c.266-430T>C (n.266-430T>C) c.267T>C (p.Gly89=) n.2203T>C c.556T>C c.439T>C | dbSNP |
16 | g.72060233T>G | CA8159137 | HP,TXNL4B | c.564T>G (p.Gly188=) c.189T>G (p.Gly63=) c.672T>G (p.Gly224=) c.387T>G (p.Gly129=) c.285-15876A>C (n.285-15876A>C) c.266-430T>G (n.266-430T>G) c.267T>G (p.Gly89=) n.2203T>G c.556T>G c.439T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060233T= | CA2231555165 | HP,TXNL4B | c.564T= (p.Gly188=) c.189T= (p.Gly63=) c.672T= (p.Gly224=) c.387T= (p.Gly129=) c.285-15876A= (n.285-15876A=) c.266-430T= (n.266-430T=) c.267T= (p.Gly89=) n.2203T= c.556T= c.439T= | |
16 | g.72060234del | CA2634177601 | HP,TXNL4B | c.565del (p.Ala189ProfsTer3) c.190del (p.Ala64ProfsTer3) c.673del (p.Ala225ProfsTer3) c.388del (p.Ala130ProfsTer3) c.285-15877del (n.285-15877del) c.266-429del (n.266-429del) c.268del (p.Ala90ProfsTer3) n.2204del c.557del c.440del | gnomAD v4 |
16 | g.72060234G>A | CA8159138 | HP,TXNL4B | c.565G>A (p.Ala189Thr) c.190G>A (p.Ala64Thr) c.673G>A (p.Ala225Thr) c.388G>A (p.Ala130Thr) c.285-15877C>T (n.285-15877C>T) c.266-429G>A (n.266-429G>A) c.268G>A (p.Ala90Thr) n.2204G>A c.557G>A c.440G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060234G>C | CA396676680 | HP,TXNL4B | c.565G>C (p.Ala189Pro) c.190G>C (p.Ala64Pro) c.673G>C (p.Ala225Pro) c.388G>C (p.Ala130Pro) c.285-15877C>G (n.285-15877C>G) c.266-429G>C (n.266-429G>C) c.268G>C (p.Ala90Pro) n.2204G>C c.557G>C c.440G>C | |
16 | g.72060234G= | CA2231555166 | HP,TXNL4B | c.565G= (p.Ala189=) c.190G= (p.Ala64=) c.673G= (p.Ala225=) c.388G= (p.Ala130=) c.285-15877C= (n.285-15877C=) c.266-429G= (n.266-429G=) c.268G= (p.Ala90=) n.2204G= c.557G= c.440G= | |
16 | g.72060234G>T | CA396676683 | HP,TXNL4B | c.565G>T (p.Ala189Ser) c.190G>T (p.Ala64Ser) c.673G>T (p.Ala225Ser) c.388G>T (p.Ala130Ser) c.285-15877C>A (n.285-15877C>A) c.266-429G>T (n.266-429G>T) c.268G>T (p.Ala90Ser) n.2204G>T c.557G>T c.440G>T | |
16 | g.72060235C>A | CA396676686 | HP,TXNL4B | c.566C>A (p.Ala189Asp) c.191C>A (p.Ala64Asp) c.674C>A (p.Ala225Asp) c.389C>A (p.Ala130Asp) c.285-15878G>T (n.285-15878G>T) c.266-428C>A (n.266-428C>A) c.269C>A (p.Ala90Asp) n.2205C>A c.558C>A c.441C>A | |
16 | g.72060235C>G | CA396676689 | HP,TXNL4B | c.566C>G (p.Ala189Gly) c.191C>G (p.Ala64Gly) c.674C>G (p.Ala225Gly) c.389C>G (p.Ala130Gly) c.285-15878G>C (n.285-15878G>C) c.266-428C>G (n.266-428C>G) c.269C>G (p.Ala90Gly) n.2205C>G c.558C>G c.441C>G | |
16 | g.72060235C>T | CA396676693 | HP,TXNL4B | c.566C>T (p.Ala189Val) c.191C>T (p.Ala64Val) c.674C>T (p.Ala225Val) c.389C>T (p.Ala130Val) c.285-15878G>A (n.285-15878G>A) c.266-428C>T (n.266-428C>T) c.269C>T (p.Ala90Val) n.2205C>T c.558C>T c.441C>T | |
16 | g.72060236C>A | CA496414593 | HP,TXNL4B | c.567C>A (p.Ala189=) c.192C>A (p.Ala64=) c.675C>A (p.Ala225=) c.390C>A (p.Ala130=) c.285-15879G>T (n.285-15879G>T) c.266-427C>A (n.266-427C>A) c.270C>A (p.Ala90=) n.2206C>A c.559C>A c.442C>A | |
16 | g.72060236C= | CA2231555167 | HP,TXNL4B | c.567C= (p.Ala189=) c.192C= (p.Ala64=) c.675C= (p.Ala225=) c.390C= (p.Ala130=) c.285-15879G= (n.285-15879G=) c.266-427C= (n.266-427C=) c.270C= (p.Ala90=) n.2206C= c.559C= c.442C= | |
16 | g.72060236C>G | CA8159139 | HP,TXNL4B | c.567C>G (p.Ala189=) c.192C>G (p.Ala64=) c.675C>G (p.Ala225=) c.390C>G (p.Ala130=) c.285-15879G>C (n.285-15879G>C) c.266-427C>G (n.266-427C>G) c.270C>G (p.Ala90=) n.2206C>G c.559C>G c.442C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060236C>T | CA496414594 | HP,TXNL4B | c.567C>T (p.Ala189=) c.192C>T (p.Ala64=) c.675C>T (p.Ala225=) c.390C>T (p.Ala130=) c.285-15879G>A (n.285-15879G>A) c.266-427C>T (n.266-427C>T) c.270C>T (p.Ala90=) n.2206C>T c.559C>T c.442C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060237A= | CA2231555168 | HP,TXNL4B | c.568A= (p.Thr190=) c.193A= (p.Thr65=) c.676A= (p.Thr226=) c.391A= (p.Thr131=) c.285-15880T= (n.285-15880T=) c.266-426A= (n.266-426A=) c.271A= (p.Thr91=) n.2207A= c.560A= c.443A= | |
16 | g.72060237A>C | CA396676699 | HP,TXNL4B | c.568A>C (p.Thr190Pro) c.193A>C (p.Thr65Pro) c.676A>C (p.Thr226Pro) c.391A>C (p.Thr131Pro) c.285-15880T>G (n.285-15880T>G) c.266-426A>C (n.266-426A>C) c.271A>C (p.Thr91Pro) n.2207A>C c.560A>C c.443A>C | |
16 | g.72060237A>G | CA396676701 | HP,TXNL4B | c.568A>G (p.Thr190Ala) c.193A>G (p.Thr65Ala) c.676A>G (p.Thr226Ala) c.391A>G (p.Thr131Ala) c.285-15880T>C (n.285-15880T>C) c.266-426A>G (n.266-426A>G) c.271A>G (p.Thr91Ala) n.2207A>G c.560A>G c.443A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060237A>T | CA396676703 | HP,TXNL4B | c.568A>T (p.Thr190Ser) c.193A>T (p.Thr65Ser) c.676A>T (p.Thr226Ser) c.391A>T (p.Thr131Ser) c.285-15880T>A (n.285-15880T>A) c.266-426A>T (n.266-426A>T) c.271A>T (p.Thr91Ser) n.2207A>T c.560A>T c.443A>T | |
16 | g.72060238C>A | CA396676704 | HP,TXNL4B | c.569C>A (p.Thr190Lys) c.194C>A (p.Thr65Lys) c.677C>A (p.Thr226Lys) c.392C>A (p.Thr131Lys) c.285-15881G>T (n.285-15881G>T) c.266-425C>A (n.266-425C>A) c.272C>A (p.Thr91Lys) n.2208C>A c.561C>A c.444C>A | |
16 | g.72060238C= | CA2231555169 | HP,TXNL4B | c.569C= (p.Thr190=) c.194C= (p.Thr65=) c.677C= (p.Thr226=) c.392C= (p.Thr131=) c.285-15881G= (n.285-15881G=) c.266-425C= (n.266-425C=) c.272C= (p.Thr91=) n.2208C= c.561C= c.444C= | |
16 | g.72060238C>G | CA396676705 | HP,TXNL4B | c.569C>G (p.Thr190Arg) c.194C>G (p.Thr65Arg) c.677C>G (p.Thr226Arg) c.392C>G (p.Thr131Arg) c.285-15881G>C (n.285-15881G>C) c.266-425C>G (n.266-425C>G) c.272C>G (p.Thr91Arg) n.2208C>G c.561C>G c.444C>G | |
16 | g.72060238C>T | CA8159140 | HP,TXNL4B | c.569C>T (p.Thr190Met) c.194C>T (p.Thr65Met) c.677C>T (p.Thr226Met) c.392C>T (p.Thr131Met) c.285-15881G>A (n.285-15881G>A) c.266-425C>T (n.266-425C>T) c.272C>T (p.Thr91Met) n.2208C>T c.561C>T c.444C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060239G>A | CA496414595 | HP,TXNL4B | c.570G>A (p.Thr190=) c.195G>A (p.Thr65=) c.678G>A (p.Thr226=) c.393G>A (p.Thr131=) c.285-15882C>T (n.285-15882C>T) c.266-424G>A (n.266-424G>A) c.273G>A (p.Thr91=) n.2209G>A c.562G>A c.445G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060239G>C | CA496414596 | HP,TXNL4B | c.570G>C (p.Thr190=) c.195G>C (p.Thr65=) c.678G>C (p.Thr226=) c.393G>C (p.Thr131=) c.285-15882C>G (n.285-15882C>G) c.266-424G>C (n.266-424G>C) c.273G>C (p.Thr91=) n.2209G>C c.562G>C c.445G>C | |
16 | g.72060239G= | CA2231555170 | HP,TXNL4B | c.570G= (p.Thr190=) c.195G= (p.Thr65=) c.678G= (p.Thr226=) c.393G= (p.Thr131=) c.285-15882C= (n.285-15882C=) c.266-424G= (n.266-424G=) c.273G= (p.Thr91=) n.2209G= c.562G= c.445G= | |
16 | g.72060239G>T | CA496414597 | HP,TXNL4B | c.570G>T (p.Thr190=) c.195G>T (p.Thr65=) c.678G>T (p.Thr226=) c.393G>T (p.Thr131=) c.285-15882C>A (n.285-15882C>A) c.266-424G>T (n.266-424G>T) c.273G>T (p.Thr91=) n.2209G>T c.562G>T c.445G>T | |
16 | g.72060240C>A | CA396676711 | HP,TXNL4B | c.571C>A (p.Leu191Met) c.196C>A (p.Leu66Met) c.679C>A (p.Leu227Met) c.394C>A (p.Leu132Met) c.285-15883G>T (n.285-15883G>T) c.266-423C>A (n.266-423C>A) c.274C>A (p.Leu92Met) n.2210C>A c.563C>A c.446C>A | |
16 | g.72060240C= | CA2231555171 | HP,TXNL4B | c.571C= (p.Leu191=) c.196C= (p.Leu66=) c.679C= (p.Leu227=) c.394C= (p.Leu132=) c.285-15883G= (n.285-15883G=) c.266-423C= (n.266-423C=) c.274C= (p.Leu92=) n.2210C= c.563C= c.446C= | |
16 | g.72060240C>G | CA396676708 | HP,TXNL4B | c.571C>G (p.Leu191Val) c.196C>G (p.Leu66Val) c.679C>G (p.Leu227Val) c.394C>G (p.Leu132Val) c.285-15883G>C (n.285-15883G>C) c.266-423C>G (n.266-423C>G) c.274C>G (p.Leu92Val) n.2210C>G c.563C>G c.446C>G | |
16 | g.72060240C>T | CA496414598 | HP,TXNL4B | c.571C>T (p.Leu191=) c.196C>T (p.Leu66=) c.679C>T (p.Leu227=) c.394C>T (p.Leu132=) c.285-15883G>A (n.285-15883G>A) c.266-423C>T (n.266-423C>T) c.274C>T (p.Leu92=) n.2210C>T c.563C>T c.446C>T | dbSNP gnomAD v4 |
16 | g.72060241T>A | CA396676715 | HP,TXNL4B | c.572T>A (p.Leu191Gln) c.197T>A (p.Leu66Gln) c.680T>A (p.Leu227Gln) c.395T>A (p.Leu132Gln) c.285-15884A>T (n.285-15884A>T) c.266-422T>A (n.266-422T>A) c.275T>A (p.Leu92Gln) n.2211T>A c.564T>A c.447T>A | |
16 | g.72060241T>C | CA396676717 | HP,TXNL4B | c.572T>C (p.Leu191Pro) c.197T>C (p.Leu66Pro) c.680T>C (p.Leu227Pro) c.395T>C (p.Leu132Pro) c.285-15884A>G (n.285-15884A>G) c.266-422T>C (n.266-422T>C) c.275T>C (p.Leu92Pro) n.2211T>C c.564T>C c.447T>C | |
16 | g.72060241T>G | CA396676719 | HP,TXNL4B | c.572T>G (p.Leu191Arg) c.197T>G (p.Leu66Arg) c.680T>G (p.Leu227Arg) c.395T>G (p.Leu132Arg) c.285-15884A>C (n.285-15884A>C) c.266-422T>G (n.266-422T>G) c.275T>G (p.Leu92Arg) n.2211T>G c.564T>G c.447T>G | gnomAD v4 |
16 | g.72060242G>A | CA496414599 | HP,TXNL4B | c.573G>A (p.Leu191=) c.198G>A (p.Leu66=) c.681G>A (p.Leu227=) c.396G>A (p.Leu132=) c.285-15885C>T (n.285-15885C>T) c.266-421G>A (n.266-421G>A) c.276G>A (p.Leu92=) n.2212G>A c.565G>A c.448G>A | gnomAD v4 |
16 | g.72060242G>C | CA496414600 | HP,TXNL4B | c.573G>C (p.Leu191=) c.198G>C (p.Leu66=) c.681G>C (p.Leu227=) c.396G>C (p.Leu132=) c.285-15885C>G (n.285-15885C>G) c.266-421G>C (n.266-421G>C) c.276G>C (p.Leu92=) n.2212G>C c.565G>C c.448G>C | |
16 | g.72060242G>T | CA496414601 | HP,TXNL4B | c.573G>T (p.Leu191=) c.198G>T (p.Leu66=) c.681G>T (p.Leu227=) c.396G>T (p.Leu132=) c.285-15885C>A (n.285-15885C>A) c.266-421G>T (n.266-421G>T) c.276G>T (p.Leu92=) n.2212G>T c.565G>T c.448G>T | |
16 | g.72060243A>C | CA396676722 | HP,TXNL4B | c.574A>C (p.Ile192Leu) c.199A>C (p.Ile67Leu) c.682A>C (p.Ile228Leu) c.397A>C (p.Ile133Leu) c.285-15886T>G (n.285-15886T>G) c.266-420A>C (n.266-420A>C) c.277A>C (p.Ile93Leu) n.2213A>C c.566A>C c.449A>C | gnomAD v4 |
16 | g.72060243A>G | CA396676724 | HP,TXNL4B | c.574A>G (p.Ile192Val) c.199A>G (p.Ile67Val) c.682A>G (p.Ile228Val) c.397A>G (p.Ile133Val) c.285-15886T>C (n.285-15886T>C) c.266-420A>G (n.266-420A>G) c.277A>G (p.Ile93Val) n.2213A>G c.566A>G c.449A>G | |
16 | g.72060243A>T | CA396676727 | HP,TXNL4B | c.574A>T (p.Ile192Phe) c.199A>T (p.Ile67Phe) c.682A>T (p.Ile228Phe) c.397A>T (p.Ile133Phe) c.285-15886T>A (n.285-15886T>A) c.266-420A>T (n.266-420A>T) c.277A>T (p.Ile93Phe) n.2213A>T c.566A>T c.449A>T | |
16 | g.72060244T>A | CA396676732 | HP,TXNL4B | c.575T>A (p.Ile192Asn) c.200T>A (p.Ile67Asn) c.683T>A (p.Ile228Asn) c.398T>A (p.Ile133Asn) c.285-15887A>T (n.285-15887A>T) c.266-419T>A (n.266-419T>A) c.278T>A (p.Ile93Asn) n.2214T>A c.567T>A c.450T>A | |
16 | g.72060244T>C | CA396676736 | HP,TXNL4B | c.575T>C (p.Ile192Thr) c.200T>C (p.Ile67Thr) c.683T>C (p.Ile228Thr) c.398T>C (p.Ile133Thr) c.285-15887A>G (n.285-15887A>G) c.266-419T>C (n.266-419T>C) c.278T>C (p.Ile93Thr) n.2214T>C c.567T>C c.450T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060244T>G | CA396676738 | HP,TXNL4B | c.575T>G (p.Ile192Ser) c.200T>G (p.Ile67Ser) c.683T>G (p.Ile228Ser) c.398T>G (p.Ile133Ser) c.285-15887A>C (n.285-15887A>C) c.266-419T>G (n.266-419T>G) c.278T>G (p.Ile93Ser) n.2214T>G c.567T>G c.450T>G | |
16 | g.72060244T= | CA2231555172 | HP,TXNL4B | c.575T= (p.Ile192=) c.200T= (p.Ile67=) c.683T= (p.Ile228=) c.398T= (p.Ile133=) c.285-15887A= (n.285-15887A=) c.266-419T= (n.266-419T=) c.278T= (p.Ile93=) n.2214T= c.567T= c.450T= | |
16 | g.72060245C>A | CA496414602 | HP,TXNL4B | c.576C>A (p.Ile192=) c.201C>A (p.Ile67=) c.684C>A (p.Ile228=) c.399C>A (p.Ile133=) c.285-15888G>T (n.285-15888G>T) c.266-418C>A (n.266-418C>A) c.279C>A (p.Ile93=) n.2215C>A c.568C>A c.451C>A | |
16 | g.72060245C>G | CA396676745 | HP,TXNL4B | c.576C>G (p.Ile192Met) c.201C>G (p.Ile67Met) c.684C>G (p.Ile228Met) c.399C>G (p.Ile133Met) c.285-15888G>C (n.285-15888G>C) c.266-418C>G (n.266-418C>G) c.279C>G (p.Ile93Met) n.2215C>G c.568C>G c.451C>G | |
16 | g.72060245C>T | CA496414603 | HP,TXNL4B | c.576C>T (p.Ile192=) c.201C>T (p.Ile67=) c.684C>T (p.Ile228=) c.399C>T (p.Ile133=) c.285-15888G>A (n.285-15888G>A) c.266-418C>T (n.266-418C>T) c.279C>T (p.Ile93=) n.2215C>T c.568C>T c.451C>T | |
16 | g.72060246A>C | CA396676748 | HP,TXNL4B | c.577A>C (p.Asn193His) c.202A>C (p.Asn68His) c.685A>C (p.Asn229His) c.400A>C (p.Asn134His) c.285-15889T>G (n.285-15889T>G) c.266-417A>C (n.266-417A>C) c.280A>C (p.Asn94His) n.2216A>C c.569A>C c.452A>C | |
16 | g.72060246A>G | CA396676751 | HP,TXNL4B | c.577A>G (p.Asn193Asp) c.202A>G (p.Asn68Asp) c.685A>G (p.Asn229Asp) c.400A>G (p.Asn134Asp) c.285-15889T>C (n.285-15889T>C) c.266-417A>G (n.266-417A>G) c.280A>G (p.Asn94Asp) n.2216A>G c.569A>G c.452A>G | |
16 | g.72060246A>T | CA396676753 | HP,TXNL4B | c.577A>T (p.Asn193Tyr) c.202A>T (p.Asn68Tyr) c.685A>T (p.Asn229Tyr) c.400A>T (p.Asn134Tyr) c.285-15889T>A (n.285-15889T>A) c.266-417A>T (n.266-417A>T) c.280A>T (p.Asn94Tyr) n.2216A>T c.569A>T c.452A>T | |
16 | g.72060247A= | CA2231555173 | HP,TXNL4B | c.578A= (p.Asn193=) c.203A= (p.Asn68=) c.686A= (p.Asn229=) c.401A= (p.Asn134=) c.285-15890T= (n.285-15890T=) c.266-416A= (n.266-416A=) c.281A= (p.Asn94=) n.2217A= c.570A= c.453A= | |
16 | g.72060247A>C | CA396676760 | HP,TXNL4B | c.578A>C (p.Asn193Thr) c.203A>C (p.Asn68Thr) c.686A>C (p.Asn229Thr) c.401A>C (p.Asn134Thr) c.285-15890T>G (n.285-15890T>G) c.266-416A>C (n.266-416A>C) c.281A>C (p.Asn94Thr) n.2217A>C c.570A>C c.453A>C | |
16 | g.72060247A>G | CA8159141 | HP,TXNL4B | c.578A>G (p.Asn193Ser) c.203A>G (p.Asn68Ser) c.686A>G (p.Asn229Ser) c.401A>G (p.Asn134Ser) c.285-15890T>C (n.285-15890T>C) c.266-416A>G (n.266-416A>G) c.281A>G (p.Asn94Ser) n.2217A>G c.570A>G c.453A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060247A>T | CA396676758 | HP,TXNL4B | c.578A>T (p.Asn193Ile) c.203A>T (p.Asn68Ile) c.686A>T (p.Asn229Ile) c.401A>T (p.Asn134Ile) c.285-15890T>A (n.285-15890T>A) c.266-416A>T (n.266-416A>T) c.281A>T (p.Asn94Ile) n.2217A>T c.570A>T c.453A>T | |
16 | g.72060248T>A | CA396676763 | HP,TXNL4B | c.579T>A (p.Asn193Lys) c.204T>A (p.Asn68Lys) c.687T>A (p.Asn229Lys) c.402T>A (p.Asn134Lys) c.285-15891A>T (n.285-15891A>T) c.266-415T>A (n.266-415T>A) c.282T>A (p.Asn94Lys) n.2218T>A c.571T>A c.454T>A | |
16 | g.72060248T>C | CA496414605 | HP,TXNL4B | c.579T>C (p.Asn193=) c.204T>C (p.Asn68=) c.687T>C (p.Asn229=) c.402T>C (p.Asn134=) c.285-15891A>G (n.285-15891A>G) c.266-415T>C (n.266-415T>C) c.282T>C (p.Asn94=) n.2218T>C c.571T>C c.454T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060248T>G | CA396676765 | HP,TXNL4B | c.579T>G (p.Asn193Lys) c.204T>G (p.Asn68Lys) c.687T>G (p.Asn229Lys) c.402T>G (p.Asn134Lys) c.285-15891A>C (n.285-15891A>C) c.266-415T>G (n.266-415T>G) c.282T>G (p.Asn94Lys) n.2218T>G c.571T>G c.454T>G | |
16 | g.72060248T= | CA2231555174 | HP,TXNL4B | c.579T= (p.Asn193=) c.204T= (p.Asn68=) c.687T= (p.Asn229=) c.402T= (p.Asn134=) c.285-15891A= (n.285-15891A=) c.266-415T= (n.266-415T=) c.282T= (p.Asn94=) n.2218T= c.571T= c.454T= | |
16 | g.72060249G>A | CA396676767 | HP,TXNL4B | c.580G>A (p.Glu194Lys) c.205G>A (p.Glu69Lys) c.688G>A (p.Glu230Lys) c.403G>A (p.Glu135Lys) c.285-15892C>T (n.285-15892C>T) c.266-414G>A (n.266-414G>A) c.283G>A (p.Glu95Lys) n.2219G>A c.572G>A c.455G>A | |
16 | g.72060249G>C | CA396676768 | HP,TXNL4B | c.580G>C (p.Glu194Gln) c.205G>C (p.Glu69Gln) c.688G>C (p.Glu230Gln) c.403G>C (p.Glu135Gln) c.285-15892C>G (n.285-15892C>G) c.266-414G>C (n.266-414G>C) c.283G>C (p.Glu95Gln) n.2219G>C c.572G>C c.455G>C | |
16 | g.72060249G>T | CA396676770 | HP,TXNL4B | c.580G>T (p.Glu194Ter) c.205G>T (p.Glu69Ter) c.688G>T (p.Glu230Ter) c.403G>T (p.Glu135Ter) c.285-15892C>A (n.285-15892C>A) c.266-414G>T (n.266-414G>T) c.283G>T (p.Glu95Ter) n.2219G>T c.572G>T c.455G>T | |
16 | g.72060250A>C | CA396676773 | HP,TXNL4B | c.581A>C (p.Glu194Ala) c.206A>C (p.Glu69Ala) c.689A>C (p.Glu230Ala) c.404A>C (p.Glu135Ala) c.285-15893T>G (n.285-15893T>G) c.266-413A>C (n.266-413A>C) c.284A>C (p.Glu95Ala) n.2220A>C c.573A>C c.456A>C | |
16 | g.72060250A>G | CA396676774 | HP,TXNL4B | c.581A>G (p.Glu194Gly) c.206A>G (p.Glu69Gly) c.689A>G (p.Glu230Gly) c.404A>G (p.Glu135Gly) c.285-15893T>C (n.285-15893T>C) c.266-413A>G (n.266-413A>G) c.284A>G (p.Glu95Gly) n.2220A>G c.573A>G c.456A>G | |
16 | g.72060250A>T | CA396676777 | HP,TXNL4B | c.581A>T (p.Glu194Val) c.206A>T (p.Glu69Val) c.689A>T (p.Glu230Val) c.404A>T (p.Glu135Val) c.285-15893T>A (n.285-15893T>A) c.266-413A>T (n.266-413A>T) c.284A>T (p.Glu95Val) n.2220A>T c.573A>T c.456A>T | |
16 | g.72060251A>C | CA396676783 | HP,TXNL4B | c.582A>C (p.Glu194Asp) c.207A>C (p.Glu69Asp) c.690A>C (p.Glu230Asp) c.405A>C (p.Glu135Asp) c.285-15894T>G (n.285-15894T>G) c.266-412A>C (n.266-412A>C) c.285A>C (p.Glu95Asp) n.2221A>C c.574A>C c.457A>C | |
16 | g.72060251A>G | CA496414607 | HP,TXNL4B | c.582A>G (p.Glu194=) c.207A>G (p.Glu69=) c.690A>G (p.Glu230=) c.405A>G (p.Glu135=) c.285-15894T>C (n.285-15894T>C) c.266-412A>G (n.266-412A>G) c.285A>G (p.Glu95=) n.2221A>G c.574A>G c.457A>G | |
16 | g.72060251A>T | CA396676784 | HP,TXNL4B | c.582A>T (p.Glu194Asp) c.207A>T (p.Glu69Asp) c.690A>T (p.Glu230Asp) c.405A>T (p.Glu135Asp) c.285-15894T>A (n.285-15894T>A) c.266-412A>T (n.266-412A>T) c.285A>T (p.Glu95Asp) n.2221A>T c.574A>T c.457A>T | |
16 | g.72060252C>A | CA8159142 | HP,TXNL4B | c.583C>A (p.Gln195Lys) c.208C>A (p.Gln70Lys) c.691C>A (p.Gln231Lys) c.406C>A (p.Gln136Lys) c.285-15895G>T (n.285-15895G>T) c.266-411C>A (n.266-411C>A) c.286C>A (p.Gln96Lys) n.2222C>A c.575C>A c.458C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060252C= | CA2231555175 | HP,TXNL4B | c.583C= (p.Gln195=) c.208C= (p.Gln70=) c.691C= (p.Gln231=) c.406C= (p.Gln136=) c.285-15895G= (n.285-15895G=) c.266-411C= (n.266-411C=) c.286C= (p.Gln96=) n.2222C= c.575C= c.458C= | |
16 | g.72060252C>G | CA396676788 | HP,TXNL4B | c.583C>G (p.Gln195Glu) c.208C>G (p.Gln70Glu) c.691C>G (p.Gln231Glu) c.406C>G (p.Gln136Glu) c.285-15895G>C (n.285-15895G>C) c.266-411C>G (n.266-411C>G) c.286C>G (p.Gln96Glu) n.2222C>G c.575C>G c.458C>G | |
16 | g.72060252C>T | CA396676794 | HP,TXNL4B | c.583C>T (p.Gln195Ter) c.208C>T (p.Gln70Ter) c.691C>T (p.Gln231Ter) c.406C>T (p.Gln136Ter) c.285-15895G>A (n.285-15895G>A) c.266-411C>T (n.266-411C>T) c.286C>T (p.Gln96Ter) n.2222C>T c.575C>T c.458C>T | |
16 | g.72060253A>C | CA396676799 | HP,TXNL4B | c.584A>C (p.Gln195Pro) c.209A>C (p.Gln70Pro) c.692A>C (p.Gln231Pro) c.407A>C (p.Gln136Pro) c.285-15896T>G (n.285-15896T>G) c.266-410A>C (n.266-410A>C) c.287A>C (p.Gln96Pro) n.2223A>C c.576A>C c.459A>C | |
16 | g.72060253A>G | CA396676802 | HP,TXNL4B | c.584A>G (p.Gln195Arg) c.209A>G (p.Gln70Arg) c.692A>G (p.Gln231Arg) c.407A>G (p.Gln136Arg) c.285-15896T>C (n.285-15896T>C) c.266-410A>G (n.266-410A>G) c.287A>G (p.Gln96Arg) n.2223A>G c.576A>G c.459A>G | |
16 | g.72060253A>T | CA396676798 | HP,TXNL4B | c.584A>T (p.Gln195Leu) c.209A>T (p.Gln70Leu) c.692A>T (p.Gln231Leu) c.407A>T (p.Gln136Leu) c.285-15896T>A (n.285-15896T>A) c.266-410A>T (n.266-410A>T) c.287A>T (p.Gln96Leu) n.2223A>T c.576A>T c.459A>T | |
16 | g.72060254A>C | CA396676808 | HP,TXNL4B | c.585A>C (p.Gln195His) c.210A>C (p.Gln70His) c.693A>C (p.Gln231His) c.408A>C (p.Gln136His) c.285-15897T>G (n.285-15897T>G) c.266-409A>C (n.266-409A>C) c.288A>C (p.Gln96His) n.2224A>C c.577A>C c.460A>C | |
16 | g.72060254A>G | CA496414612 | HP,TXNL4B | c.585A>G (p.Gln195=) c.210A>G (p.Gln70=) c.693A>G (p.Gln231=) c.408A>G (p.Gln136=) c.285-15897T>C (n.285-15897T>C) c.266-409A>G (n.266-409A>G) c.288A>G (p.Gln96=) n.2224A>G c.577A>G c.460A>G | |
16 | g.72060254A>T | CA396676806 | HP,TXNL4B | c.585A>T (p.Gln195His) c.210A>T (p.Gln70His) c.693A>T (p.Gln231His) c.408A>T (p.Gln136His) c.285-15897T>A (n.285-15897T>A) c.266-409A>T (n.266-409A>T) c.288A>T (p.Gln96His) n.2224A>T c.577A>T c.460A>T | |
16 | g.72060255T>A | CA396676812 | HP,TXNL4B | c.586T>A (p.Trp196Arg) c.211T>A (p.Trp71Arg) c.694T>A (p.Trp232Arg) c.409T>A (p.Trp137Arg) c.285-15898A>T (n.285-15898A>T) c.266-408T>A (n.266-408T>A) c.289T>A (p.Trp97Arg) n.2225T>A c.578T>A c.461T>A | COSMIC |
16 | g.72060255T>C | CA396676810 | HP,TXNL4B | c.586T>C (p.Trp196Arg) c.211T>C (p.Trp71Arg) c.694T>C (p.Trp232Arg) c.409T>C (p.Trp137Arg) c.285-15898A>G (n.285-15898A>G) c.266-408T>C (n.266-408T>C) c.289T>C (p.Trp97Arg) n.2225T>C c.578T>C c.461T>C | |
16 | g.72060255T>G | CA396676814 | HP,TXNL4B | c.586T>G (p.Trp196Gly) c.211T>G (p.Trp71Gly) c.694T>G (p.Trp232Gly) c.409T>G (p.Trp137Gly) c.285-15898A>C (n.285-15898A>C) c.266-408T>G (n.266-408T>G) c.289T>G (p.Trp97Gly) n.2225T>G c.578T>G c.461T>G | |
16 | g.72060256G>A | CA396676818 | HP,TXNL4B | c.587G>A (p.Trp196Ter) c.212G>A (p.Trp71Ter) c.695G>A (p.Trp232Ter) c.410G>A (p.Trp137Ter) c.285-15899C>T (n.285-15899C>T) c.266-407G>A (n.266-407G>A) c.290G>A (p.Trp97Ter) n.2226G>A c.579G>A c.462G>A | |
16 | g.72060256G>C | CA396676822 | HP,TXNL4B | c.587G>C (p.Trp196Ser) c.212G>C (p.Trp71Ser) c.695G>C (p.Trp232Ser) c.410G>C (p.Trp137Ser) c.285-15899C>G (n.285-15899C>G) c.266-407G>C (n.266-407G>C) c.290G>C (p.Trp97Ser) n.2226G>C c.579G>C c.462G>C | |
16 | g.72060256G>T | CA396676820 | HP,TXNL4B | c.587G>T (p.Trp196Leu) c.212G>T (p.Trp71Leu) c.695G>T (p.Trp232Leu) c.410G>T (p.Trp137Leu) c.285-15899C>A (n.285-15899C>A) c.266-407G>T (n.266-407G>T) c.290G>T (p.Trp97Leu) n.2226G>T c.579G>T c.462G>T | |
16 | g.72060257G>A | CA396676825 | HP,TXNL4B | c.588G>A (p.Trp196Ter) c.213G>A (p.Trp71Ter) c.696G>A (p.Trp232Ter) c.411G>A (p.Trp137Ter) c.285-15900C>T (n.285-15900C>T) c.266-406G>A (n.266-406G>A) c.291G>A (p.Trp97Ter) n.2227G>A c.580G>A c.463G>A | |
16 | g.72060257G>C | CA396676829 | HP,TXNL4B | c.588G>C (p.Trp196Cys) c.213G>C (p.Trp71Cys) c.696G>C (p.Trp232Cys) c.411G>C (p.Trp137Cys) c.285-15900C>G (n.285-15900C>G) c.266-406G>C (n.266-406G>C) c.291G>C (p.Trp97Cys) n.2227G>C c.580G>C c.463G>C | |
16 | g.72060257G>T | CA396676828 | HP,TXNL4B | c.588G>T (p.Trp196Cys) c.213G>T (p.Trp71Cys) c.696G>T (p.Trp232Cys) c.411G>T (p.Trp137Cys) c.285-15900C>A (n.285-15900C>A) c.266-406G>T (n.266-406G>T) c.291G>T (p.Trp97Cys) n.2227G>T c.580G>T c.463G>T | |
16 | g.72060261_72060263dup | CA2732767382 | HP,TXNL4B | c.592_594dup (p.Leu198_Thr199insLeu) c.217_219dup (p.Leu73_Thr74insLeu) c.700_702dup (p.Leu234_Thr235insLeu) c.415_417dup (p.Leu139_Thr140insLeu) c.285-15902_285-15900dup (n.285-15902_285-15900dup) c.266-402_266-400dup (n.266-402_266-400dup) c.295_297dup (p.Leu99_Thr100insLeu) n.2231_2233dup c.584_586dup c.467_469dup | dbSNP |
16 | g.72060258C>A | CA396676832 | HP,TXNL4B | c.589C>A (p.Leu197Met) c.214C>A (p.Leu72Met) c.697C>A (p.Leu233Met) c.412C>A (p.Leu138Met) c.285-15901G>T (n.285-15901G>T) c.266-405C>A (n.266-405C>A) c.292C>A (p.Leu98Met) n.2228C>A c.581C>A c.464C>A | |
16 | g.72060258C>G | CA396676833 | HP,TXNL4B | c.589C>G (p.Leu197Val) c.214C>G (p.Leu72Val) c.697C>G (p.Leu233Val) c.412C>G (p.Leu138Val) c.285-15901G>C (n.285-15901G>C) c.266-405C>G (n.266-405C>G) c.292C>G (p.Leu98Val) n.2228C>G c.581C>G c.464C>G | |
16 | g.72060258C>T | CA496414614 | HP,TXNL4B | c.589C>T (p.Leu197=) c.214C>T (p.Leu72=) c.697C>T (p.Leu233=) c.412C>T (p.Leu138=) c.285-15901G>A (n.285-15901G>A) c.266-405C>T (n.266-405C>T) c.292C>T (p.Leu98=) n.2228C>T c.581C>T c.464C>T | |
16 | g.72060259T>A | CA396676834 | HP,TXNL4B | c.590T>A (p.Leu197Gln) c.215T>A (p.Leu72Gln) c.698T>A (p.Leu233Gln) c.413T>A (p.Leu138Gln) c.285-15902A>T (n.285-15902A>T) c.266-404T>A (n.266-404T>A) c.293T>A (p.Leu98Gln) n.2229T>A c.582T>A c.465T>A | |
16 | g.72060259T>C | CA396676835 | HP,TXNL4B | c.590T>C (p.Leu197Pro) c.215T>C (p.Leu72Pro) c.698T>C (p.Leu233Pro) c.413T>C (p.Leu138Pro) c.285-15902A>G (n.285-15902A>G) c.266-404T>C (n.266-404T>C) c.293T>C (p.Leu98Pro) n.2229T>C c.582T>C c.465T>C | |
16 | g.72060259T>G | CA396676838 | HP,TXNL4B | c.590T>G (p.Leu197Arg) c.215T>G (p.Leu72Arg) c.698T>G (p.Leu233Arg) c.413T>G (p.Leu138Arg) c.285-15902A>C (n.285-15902A>C) c.266-404T>G (n.266-404T>G) c.293T>G (p.Leu98Arg) n.2229T>G c.582T>G c.465T>G | |
16 | g.72060260G>A | CA283640730 | HP,TXNL4B | c.591G>A (p.Leu197=) c.216G>A (p.Leu72=) c.699G>A (p.Leu233=) c.414G>A (p.Leu138=) c.285-15903C>T (n.285-15903C>T) c.266-403G>A (n.266-403G>A) c.294G>A (p.Leu98=) n.2230G>A c.583G>A c.466G>A | dbSNP |
16 | g.72060260G>C | CA496414619 | HP,TXNL4B | c.591G>C (p.Leu197=) c.216G>C (p.Leu72=) c.699G>C (p.Leu233=) c.414G>C (p.Leu138=) c.285-15903C>G (n.285-15903C>G) c.266-403G>C (n.266-403G>C) c.294G>C (p.Leu98=) n.2230G>C c.583G>C c.466G>C | |
16 | g.72060260G= | CA2231555176 | HP,TXNL4B | c.591G= (p.Leu197=) c.216G= (p.Leu72=) c.699G= (p.Leu233=) c.414G= (p.Leu138=) c.285-15903C= (n.285-15903C=) c.266-403G= (n.266-403G=) c.294G= (p.Leu98=) n.2230G= c.583G= c.466G= | |
16 | g.72060260G>T | CA496414621 | HP,TXNL4B | c.591G>T (p.Leu197=) c.216G>T (p.Leu72=) c.699G>T (p.Leu233=) c.414G>T (p.Leu138=) c.285-15903C>A (n.285-15903C>A) c.266-403G>T (n.266-403G>T) c.294G>T (p.Leu98=) n.2230G>T c.583G>T c.466G>T | |
16 | g.72060261del | CA2634177602 | HP,TXNL4B | c.592del (p.Leu198Ter) c.217del (p.Leu73Ter) c.700del (p.Leu234Ter) c.415del (p.Leu139Ter) c.285-15904del (n.285-15904del) c.266-402del (n.266-402del) c.295del (p.Leu99Ter) n.2231del c.584del c.467del | gnomAD v4 |
16 | g.72060261C>A | CA396676840 | HP,TXNL4B | c.592C>A (p.Leu198Met) c.217C>A (p.Leu73Met) c.700C>A (p.Leu234Met) c.415C>A (p.Leu139Met) c.285-15904G>T (n.285-15904G>T) c.266-402C>A (n.266-402C>A) c.295C>A (p.Leu99Met) n.2231C>A c.584C>A c.467C>A | |
16 | g.72060261C>G | CA396676842 | HP,TXNL4B | c.592C>G (p.Leu198Val) c.217C>G (p.Leu73Val) c.700C>G (p.Leu234Val) c.415C>G (p.Leu139Val) c.285-15904G>C (n.285-15904G>C) c.266-402C>G (n.266-402C>G) c.295C>G (p.Leu99Val) n.2231C>G c.584C>G c.467C>G | |
16 | g.72060261C>T | CA496414622 | HP,TXNL4B | c.592C>T (p.Leu198=) c.217C>T (p.Leu73=) c.700C>T (p.Leu234=) c.415C>T (p.Leu139=) c.285-15904G>A (n.285-15904G>A) c.266-402C>T (n.266-402C>T) c.295C>T (p.Leu99=) n.2231C>T c.584C>T c.467C>T | |
16 | g.72060262T>A | CA396676845 | HP,TXNL4B | c.593T>A (p.Leu198Gln) c.218T>A (p.Leu73Gln) c.701T>A (p.Leu234Gln) c.416T>A (p.Leu139Gln) c.285-15905A>T (n.285-15905A>T) c.266-401T>A (n.266-401T>A) c.296T>A (p.Leu99Gln) n.2232T>A c.585T>A c.468T>A | |
16 | g.72060262T>C | CA396676851 | HP,TXNL4B | c.593T>C (p.Leu198Pro) c.218T>C (p.Leu73Pro) c.701T>C (p.Leu234Pro) c.416T>C (p.Leu139Pro) c.285-15905A>G (n.285-15905A>G) c.266-401T>C (n.266-401T>C) c.296T>C (p.Leu99Pro) n.2232T>C c.585T>C c.468T>C | |
16 | g.72060262T>G | CA396676852 | HP,TXNL4B | c.593T>G (p.Leu198Arg) c.218T>G (p.Leu73Arg) c.701T>G (p.Leu234Arg) c.416T>G (p.Leu139Arg) c.285-15905A>C (n.285-15905A>C) c.266-401T>G (n.266-401T>G) c.296T>G (p.Leu99Arg) n.2232T>G c.585T>G c.468T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060262T= | CA2231555177 | HP,TXNL4B | c.593T= (p.Leu198=) c.218T= (p.Leu73=) c.701T= (p.Leu234=) c.416T= (p.Leu139=) c.285-15905A= (n.285-15905A=) c.266-401T= (n.266-401T=) c.296T= (p.Leu99=) n.2232T= c.585T= c.468T= | |
16 | g.72060263G>A | CA496414624 | HP,TXNL4B | c.594G>A (p.Leu198=) c.219G>A (p.Leu73=) c.702G>A (p.Leu234=) c.417G>A (p.Leu139=) c.285-15906C>T (n.285-15906C>T) c.266-400G>A (n.266-400G>A) c.297G>A (p.Leu99=) n.2233G>A c.586G>A c.469G>A | |
16 | g.72060263G>C | CA496414625 | HP,TXNL4B | c.594G>C (p.Leu198=) c.219G>C (p.Leu73=) c.702G>C (p.Leu234=) c.417G>C (p.Leu139=) c.285-15906C>G (n.285-15906C>G) c.266-400G>C (n.266-400G>C) c.297G>C (p.Leu99=) n.2233G>C c.586G>C c.469G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060263G= | CA2231555178 | HP,TXNL4B | c.594G= (p.Leu198=) c.219G= (p.Leu73=) c.702G= (p.Leu234=) c.417G= (p.Leu139=) c.285-15906C= (n.285-15906C=) c.266-400G= (n.266-400G=) c.297G= (p.Leu99=) n.2233G= c.586G= c.469G= | |
16 | g.72060263G>T | CA496414626 | HP,TXNL4B | c.594G>T (p.Leu198=) c.219G>T (p.Leu73=) c.702G>T (p.Leu234=) c.417G>T (p.Leu139=) c.285-15906C>A (n.285-15906C>A) c.266-400G>T (n.266-400G>T) c.297G>T (p.Leu99=) n.2233G>T c.586G>T c.469G>T | |
16 | g.72060264A= | CA2231555179 | HP,TXNL4B | c.595A= (p.Thr199=) c.220A= (p.Thr74=) c.703A= (p.Thr235=) c.418A= (p.Thr140=) c.285-15907T= (n.285-15907T=) c.266-399A= (n.266-399A=) c.298A= (p.Thr100=) n.2234A= c.587A= c.470A= | |
16 | g.72060264A>C | CA396676856 | HP,TXNL4B | c.595A>C (p.Thr199Pro) c.220A>C (p.Thr74Pro) c.703A>C (p.Thr235Pro) c.418A>C (p.Thr140Pro) c.285-15907T>G (n.285-15907T>G) c.266-399A>C (n.266-399A>C) c.298A>C (p.Thr100Pro) n.2234A>C c.587A>C c.470A>C | |
16 | g.72060264A>G | CA396676860 | HP,TXNL4B | c.595A>G (p.Thr199Ala) c.220A>G (p.Thr74Ala) c.703A>G (p.Thr235Ala) c.418A>G (p.Thr140Ala) c.285-15907T>C (n.285-15907T>C) c.266-399A>G (n.266-399A>G) c.298A>G (p.Thr100Ala) n.2234A>G c.587A>G c.470A>G | |
16 | g.72060264A>T | CA283640732 | HP,TXNL4B | c.595A>T (p.Thr199Ser) c.220A>T (p.Thr74Ser) c.703A>T (p.Thr235Ser) c.418A>T (p.Thr140Ser) c.285-15907T>A (n.285-15907T>A) c.266-399A>T (n.266-399A>T) c.298A>T (p.Thr100Ser) n.2234A>T c.587A>T c.470A>T | dbSNP gnomAD v4 |
16 | g.72060265C>A | CA396676881 | HP,TXNL4B | c.596C>A (p.Thr199Asn) c.221C>A (p.Thr74Asn) c.704C>A (p.Thr235Asn) c.419C>A (p.Thr140Asn) c.285-15908G>T (n.285-15908G>T) c.266-398C>A (n.266-398C>A) c.299C>A (p.Thr100Asn) n.2235C>A c.588C>A c.471C>A | |
16 | g.72060265C>G | CA396676884 | HP,TXNL4B | c.596C>G (p.Thr199Ser) c.221C>G (p.Thr74Ser) c.704C>G (p.Thr235Ser) c.419C>G (p.Thr140Ser) c.285-15908G>C (n.285-15908G>C) c.266-398C>G (n.266-398C>G) c.299C>G (p.Thr100Ser) n.2235C>G c.588C>G c.471C>G | |
16 | g.72060265C>T | CA396676888 | HP,TXNL4B | c.596C>T (p.Thr199Ile) c.221C>T (p.Thr74Ile) c.704C>T (p.Thr235Ile) c.419C>T (p.Thr140Ile) c.285-15908G>A (n.285-15908G>A) c.266-398C>T (n.266-398C>T) c.299C>T (p.Thr100Ile) n.2235C>T c.588C>T c.471C>T | |
16 | g.72060266C>A | CA496414630 | HP,TXNL4B | c.597C>A (p.Thr199=) c.222C>A (p.Thr74=) c.705C>A (p.Thr235=) c.420C>A (p.Thr140=) c.285-15909G>T (n.285-15909G>T) c.266-397C>A (n.266-397C>A) c.300C>A (p.Thr100=) n.2236C>A c.589C>A c.472C>A | dbSNP gnomAD v2 |
16 | g.72060266C= | CA2231555180 | HP,TXNL4B | c.597C= (p.Thr199=) c.222C= (p.Thr74=) c.705C= (p.Thr235=) c.420C= (p.Thr140=) c.285-15909G= (n.285-15909G=) c.266-397C= (n.266-397C=) c.300C= (p.Thr100=) n.2236C= c.589C= c.472C= | |
16 | g.72060266C>G | CA496414632 | HP,TXNL4B | c.597C>G (p.Thr199=) c.222C>G (p.Thr74=) c.705C>G (p.Thr235=) c.420C>G (p.Thr140=) c.285-15909G>C (n.285-15909G>C) c.266-397C>G (n.266-397C>G) c.300C>G (p.Thr100=) n.2236C>G c.589C>G c.472C>G | |
16 | g.72060266C>T | CA8159143 | HP,TXNL4B | c.597C>T (p.Thr199=) c.222C>T (p.Thr74=) c.705C>T (p.Thr235=) c.420C>T (p.Thr140=) c.285-15909G>A (n.285-15909G>A) c.266-397C>T (n.266-397C>T) c.300C>T (p.Thr100=) n.2236C>T c.589C>T c.472C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060267A>C | CA396676893 | HP,TXNL4B | c.598A>C (p.Thr200Pro) c.223A>C (p.Thr75Pro) c.706A>C (p.Thr236Pro) c.421A>C (p.Thr141Pro) c.285-15910T>G (n.285-15910T>G) c.266-396A>C (n.266-396A>C) c.301A>C (p.Thr101Pro) n.2237A>C c.590A>C c.473A>C | |
16 | g.72060267A>G | CA396676895 | HP,TXNL4B | c.598A>G (p.Thr200Ala) c.223A>G (p.Thr75Ala) c.706A>G (p.Thr236Ala) c.421A>G (p.Thr141Ala) c.285-15910T>C (n.285-15910T>C) c.266-396A>G (n.266-396A>G) c.301A>G (p.Thr101Ala) n.2237A>G c.590A>G c.473A>G | |
16 | g.72060267A>T | CA396676897 | HP,TXNL4B | c.598A>T (p.Thr200Ser) c.223A>T (p.Thr75Ser) c.706A>T (p.Thr236Ser) c.421A>T (p.Thr141Ser) c.285-15910T>A (n.285-15910T>A) c.266-396A>T (n.266-396A>T) c.301A>T (p.Thr101Ser) n.2237A>T c.590A>T c.473A>T | |
16 | g.72060268C>A | CA396676898 | HP,TXNL4B | c.599C>A (p.Thr200Lys) c.224C>A (p.Thr75Lys) c.707C>A (p.Thr236Lys) c.422C>A (p.Thr141Lys) c.285-15911G>T (n.285-15911G>T) c.266-395C>A (n.266-395C>A) c.302C>A (p.Thr101Lys) n.2238C>A c.591C>A c.474C>A | |
16 | g.72060268C= | CA2231555181 | HP,TXNL4B | c.599C= (p.Thr200=) c.224C= (p.Thr75=) c.707C= (p.Thr236=) c.422C= (p.Thr141=) c.285-15911G= (n.285-15911G=) c.266-395C= (n.266-395C=) c.302C= (p.Thr101=) n.2238C= c.591C= c.474C= | |
16 | g.72060268C>G | CA396676901 | HP,TXNL4B | c.599C>G (p.Thr200Arg) c.224C>G (p.Thr75Arg) c.707C>G (p.Thr236Arg) c.422C>G (p.Thr141Arg) c.285-15911G>C (n.285-15911G>C) c.266-395C>G (n.266-395C>G) c.302C>G (p.Thr101Arg) n.2238C>G c.591C>G c.474C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060268C>T | CA8159144 | HP,TXNL4B | c.599C>T (p.Thr200Met) c.224C>T (p.Thr75Met) c.707C>T (p.Thr236Met) c.422C>T (p.Thr141Met) c.285-15911G>A (n.285-15911G>A) c.266-395C>T (n.266-395C>T) c.302C>T (p.Thr101Met) n.2238C>T c.591C>T c.474C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.72060269G>A | CA8159145 | HP,TXNL4B | c.600G>A (p.Thr200=) c.225G>A (p.Thr75=) c.708G>A (p.Thr236=) c.423G>A (p.Thr141=) c.285-15912C>T (n.285-15912C>T) c.266-394G>A (n.266-394G>A) c.303G>A (p.Thr101=) n.2239G>A c.592G>A c.475G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060269G>C | CA496414638 | HP,TXNL4B | c.600G>C (p.Thr200=) c.225G>C (p.Thr75=) c.708G>C (p.Thr236=) c.423G>C (p.Thr141=) c.285-15912C>G (n.285-15912C>G) c.266-394G>C (n.266-394G>C) c.303G>C (p.Thr101=) n.2239G>C c.592G>C c.475G>C | gnomAD v4 |
16 | g.72060269G= | CA2231555182 | HP,TXNL4B | c.600G= (p.Thr200=) c.225G= (p.Thr75=) c.708G= (p.Thr236=) c.423G= (p.Thr141=) c.285-15912C= (n.285-15912C=) c.266-394G= (n.266-394G=) c.303G= (p.Thr101=) n.2239G= c.592G= c.475G= | |
16 | g.72060269G>T | CA496414639 | HP,TXNL4B | c.600G>T (p.Thr200=) c.225G>T (p.Thr75=) c.708G>T (p.Thr236=) c.423G>T (p.Thr141=) c.285-15912C>A (n.285-15912C>A) c.266-394G>T (n.266-394G>T) c.303G>T (p.Thr101=) n.2239G>T c.592G>T c.475G>T | gnomAD v4 |
16 | g.72060270del | CA2807567045 | HP,TXNL4B | c.601del (p.Ala201LeufsTer6) c.226del (p.Ala76LeufsTer6) c.709del (p.Ala237LeufsTer6) c.424del (p.Ala142LeufsTer6) c.285-15912del (n.285-15912del) c.266-393del (n.266-393del) c.304del (p.Ala102LeufsTer6) n.2240del c.593del c.476del | |
16 | g.72060270G>A | CA396676904 | HP,TXNL4B | c.601G>A (p.Ala201Thr) c.226G>A (p.Ala76Thr) c.709G>A (p.Ala237Thr) c.424G>A (p.Ala142Thr) c.285-15913C>T (n.285-15913C>T) c.266-393G>A (n.266-393G>A) c.304G>A (p.Ala102Thr) n.2240G>A c.593G>A c.476G>A | gnomAD v4 |
16 | g.72060270G>C | CA396676905 | HP,TXNL4B | c.601G>C (p.Ala201Pro) c.226G>C (p.Ala76Pro) c.709G>C (p.Ala237Pro) c.424G>C (p.Ala142Pro) c.285-15913C>G (n.285-15913C>G) c.266-393G>C (n.266-393G>C) c.304G>C (p.Ala102Pro) n.2240G>C c.593G>C c.476G>C | |
16 | g.72060270G>T | CA396676906 | HP,TXNL4B | c.601G>T (p.Ala201Ser) c.226G>T (p.Ala76Ser) c.709G>T (p.Ala237Ser) c.424G>T (p.Ala142Ser) c.285-15913C>A (n.285-15913C>A) c.266-393G>T (n.266-393G>T) c.304G>T (p.Ala102Ser) n.2240G>T c.593G>T c.476G>T | |
16 | g.72060271C>A | CA396676909 | HP,TXNL4B | c.602C>A (p.Ala201Asp) c.227C>A (p.Ala76Asp) c.710C>A (p.Ala237Asp) c.425C>A (p.Ala142Asp) c.285-15914G>T (n.285-15914G>T) c.266-392C>A (n.266-392C>A) c.305C>A (p.Ala102Asp) n.2241C>A c.594C>A c.477C>A | |
16 | g.72060271C= | CA2231555183 | HP,TXNL4B | c.602C= (p.Ala201=) c.227C= (p.Ala76=) c.710C= (p.Ala237=) c.425C= (p.Ala142=) c.285-15914G= (n.285-15914G=) c.266-392C= (n.266-392C=) c.305C= (p.Ala102=) n.2241C= c.594C= c.477C= | |
16 | g.72060271C>G | CA396676911 | HP,TXNL4B | c.602C>G (p.Ala201Gly) c.227C>G (p.Ala76Gly) c.710C>G (p.Ala237Gly) c.425C>G (p.Ala142Gly) c.285-15914G>C (n.285-15914G>C) c.266-392C>G (n.266-392C>G) c.305C>G (p.Ala102Gly) n.2241C>G c.594C>G c.477C>G | |
16 | g.72060271C>T | CA8159146 | HP,TXNL4B | c.602C>T (p.Ala201Val) c.227C>T (p.Ala76Val) c.710C>T (p.Ala237Val) c.425C>T (p.Ala142Val) c.285-15914G>A (n.285-15914G>A) c.266-392C>T (n.266-392C>T) c.305C>T (p.Ala102Val) n.2241C>T c.594C>T c.477C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060272T>A | CA496414641 | HP,TXNL4B | c.603T>A (p.Ala201=) c.228T>A (p.Ala76=) c.711T>A (p.Ala237=) c.426T>A (p.Ala142=) c.285-15915A>T (n.285-15915A>T) c.266-391T>A (n.266-391T>A) c.306T>A (p.Ala102=) n.2242T>A c.595T>A c.478T>A | |
16 | g.72060272T>C | CA496414643 | HP,TXNL4B | c.603T>C (p.Ala201=) c.228T>C (p.Ala76=) c.711T>C (p.Ala237=) c.426T>C (p.Ala142=) c.285-15915A>G (n.285-15915A>G) c.266-391T>C (n.266-391T>C) c.306T>C (p.Ala102=) n.2242T>C c.595T>C c.478T>C | gnomAD v4 |
16 | g.72060272T>G | CA496414644 | HP,TXNL4B | c.603T>G (p.Ala201=) c.228T>G (p.Ala76=) c.711T>G (p.Ala237=) c.426T>G (p.Ala142=) c.285-15915A>C (n.285-15915A>C) c.266-391T>G (n.266-391T>G) c.306T>G (p.Ala102=) n.2242T>G c.595T>G c.478T>G | |
16 | g.72060273A= | CA2231555184 | HP,TXNL4B | c.604A= (p.Lys202=) c.229A= (p.Lys77=) c.712A= (p.Lys238=) c.427A= (p.Lys143=) c.285-15916T= (n.285-15916T=) c.266-390A= (n.266-390A=) c.307A= (p.Lys103=) n.2243A= c.596A= c.479A= | |
16 | g.72060273A>C | CA8159147 | HP,TXNL4B | c.604A>C (p.Lys202Gln) c.229A>C (p.Lys77Gln) c.712A>C (p.Lys238Gln) c.427A>C (p.Lys143Gln) c.285-15916T>G (n.285-15916T>G) c.266-390A>C (n.266-390A>C) c.307A>C (p.Lys103Gln) n.2243A>C c.596A>C c.479A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060273A>G | CA396676917 | HP,TXNL4B | c.604A>G (p.Lys202Glu) c.229A>G (p.Lys77Glu) c.712A>G (p.Lys238Glu) c.427A>G (p.Lys143Glu) c.285-15916T>C (n.285-15916T>C) c.266-390A>G (n.266-390A>G) c.307A>G (p.Lys103Glu) n.2243A>G c.596A>G c.479A>G | |
16 | g.72060273A>T | CA396676916 | HP,TXNL4B | c.604A>T (p.Lys202Ter) c.229A>T (p.Lys77Ter) c.712A>T (p.Lys238Ter) c.427A>T (p.Lys143Ter) c.285-15916T>A (n.285-15916T>A) c.266-390A>T (n.266-390A>T) c.307A>T (p.Lys103Ter) n.2243A>T c.596A>T c.479A>T | |
16 | g.72060274A= | CA2231555185 | HP,TXNL4B | c.605A= (p.Lys202=) c.230A= (p.Lys77=) c.713A= (p.Lys238=) c.428A= (p.Lys143=) c.285-15917T= (n.285-15917T=) c.266-389A= (n.266-389A=) c.308A= (p.Lys103=) n.2244A= c.597A= c.480A= | |
16 | g.72060274A>C | CA396676920 | HP,TXNL4B | c.605A>C (p.Lys202Thr) c.230A>C (p.Lys77Thr) c.713A>C (p.Lys238Thr) c.428A>C (p.Lys143Thr) c.285-15917T>G (n.285-15917T>G) c.266-389A>C (n.266-389A>C) c.308A>C (p.Lys103Thr) n.2244A>C c.597A>C c.480A>C | |
16 | g.72060274A>G | CA396676922 | HP,TXNL4B | c.605A>G (p.Lys202Arg) c.230A>G (p.Lys77Arg) c.713A>G (p.Lys238Arg) c.428A>G (p.Lys143Arg) c.285-15917T>C (n.285-15917T>C) c.266-389A>G (n.266-389A>G) c.308A>G (p.Lys103Arg) n.2244A>G c.597A>G c.480A>G | dbSNP |
16 | g.72060274A>T | CA396676923 | HP,TXNL4B | c.605A>T (p.Lys202Ile) c.230A>T (p.Lys77Ile) c.713A>T (p.Lys238Ile) c.428A>T (p.Lys143Ile) c.285-15917T>A (n.285-15917T>A) c.266-389A>T (n.266-389A>T) c.308A>T (p.Lys103Ile) n.2244A>T c.597A>T c.480A>T | |
16 | g.72060275A= | CA2231555186 | HP,TXNL4B | c.606A= (p.Lys202=) c.231A= (p.Lys77=) c.714A= (p.Lys238=) c.429A= (p.Lys143=) c.285-15918T= (n.285-15918T=) c.266-388A= (n.266-388A=) c.309A= (p.Lys103=) n.2245A= c.598A= c.481A= | |
16 | g.72060275A>C | CA396676927 | HP,TXNL4B | c.606A>C (p.Lys202Asn) c.231A>C (p.Lys77Asn) c.714A>C (p.Lys238Asn) c.429A>C (p.Lys143Asn) c.285-15918T>G (n.285-15918T>G) c.266-388A>C (n.266-388A>C) c.309A>C (p.Lys103Asn) n.2245A>C c.598A>C c.481A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060275A>G | CA283640749 | HP,TXNL4B | c.606A>G (p.Lys202=) c.231A>G (p.Lys77=) c.714A>G (p.Lys238=) c.429A>G (p.Lys143=) c.285-15918T>C (n.285-15918T>C) c.266-388A>G (n.266-388A>G) c.309A>G (p.Lys103=) n.2245A>G c.598A>G c.481A>G | dbSNP |
16 | g.72060275A>T | CA396676931 | HP,TXNL4B | c.606A>T (p.Lys202Asn) c.231A>T (p.Lys77Asn) c.714A>T (p.Lys238Asn) c.429A>T (p.Lys143Asn) c.285-15918T>A (n.285-15918T>A) c.266-388A>T (n.266-388A>T) c.309A>T (p.Lys103Asn) n.2245A>T c.598A>T c.481A>T | |
16 | g.72060276A>C | CA396676935 | HP,TXNL4B | c.607A>C (p.Asn203His) c.232A>C (p.Asn78His) c.715A>C (p.Asn239His) c.430A>C (p.Asn144His) c.285-15919T>G (n.285-15919T>G) c.266-387A>C (n.266-387A>C) c.310A>C (p.Asn104His) n.2246A>C c.599A>C c.482A>C | |
16 | g.72060276A>G | CA396676937 | HP,TXNL4B | c.607A>G (p.Asn203Asp) c.232A>G (p.Asn78Asp) c.715A>G (p.Asn239Asp) c.430A>G (p.Asn144Asp) c.285-15919T>C (n.285-15919T>C) c.266-387A>G (n.266-387A>G) c.310A>G (p.Asn104Asp) n.2246A>G c.599A>G c.482A>G | |
16 | g.72060276A>T | CA396676940 | HP,TXNL4B | c.607A>T (p.Asn203Tyr) c.232A>T (p.Asn78Tyr) c.715A>T (p.Asn239Tyr) c.430A>T (p.Asn144Tyr) c.285-15919T>A (n.285-15919T>A) c.266-387A>T (n.266-387A>T) c.310A>T (p.Asn104Tyr) n.2246A>T c.599A>T c.482A>T | |
16 | g.72060277A= | CA2231555187 | HP,TXNL4B | c.608A= (p.Asn203=) c.233A= (p.Asn78=) c.716A= (p.Asn239=) c.431A= (p.Asn144=) c.285-15920T= (n.285-15920T=) c.266-386A= (n.266-386A=) c.311A= (p.Asn104=) n.2247A= c.600A= c.483A= | |
16 | g.72060277A>C | CA396676945 | HP,TXNL4B | c.608A>C (p.Asn203Thr) c.233A>C (p.Asn78Thr) c.716A>C (p.Asn239Thr) c.431A>C (p.Asn144Thr) c.285-15920T>G (n.285-15920T>G) c.266-386A>C (n.266-386A>C) c.311A>C (p.Asn104Thr) n.2247A>C c.600A>C c.483A>C | |
16 | g.72060277A>G | CA396676947 | HP,TXNL4B | c.608A>G (p.Asn203Ser) c.233A>G (p.Asn78Ser) c.716A>G (p.Asn239Ser) c.431A>G (p.Asn144Ser) c.285-15920T>C (n.285-15920T>C) c.266-386A>G (n.266-386A>G) c.311A>G (p.Asn104Ser) n.2247A>G c.600A>G c.483A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060277A>T | CA396676949 | HP,TXNL4B | c.608A>T (p.Asn203Ile) c.233A>T (p.Asn78Ile) c.716A>T (p.Asn239Ile) c.431A>T (p.Asn144Ile) c.285-15920T>A (n.285-15920T>A) c.266-386A>T (n.266-386A>T) c.311A>T (p.Asn104Ile) n.2247A>T c.600A>T c.483A>T | |
16 | g.72060278T>A | CA396676956 | HP,TXNL4B | c.609T>A (p.Asn203Lys) c.234T>A (p.Asn78Lys) c.717T>A (p.Asn239Lys) c.432T>A (p.Asn144Lys) c.285-15921A>T (n.285-15921A>T) c.266-385T>A (n.266-385T>A) c.312T>A (p.Asn104Lys) n.2248T>A c.601T>A c.484T>A | |
16 | g.72060278T>C | CA496414650 | HP,TXNL4B | c.609T>C (p.Asn203=) c.234T>C (p.Asn78=) c.717T>C (p.Asn239=) c.432T>C (p.Asn144=) c.285-15921A>G (n.285-15921A>G) c.266-385T>C (n.266-385T>C) c.312T>C (p.Asn104=) n.2248T>C c.601T>C c.484T>C | |
16 | g.72060278T>G | CA396676953 | HP,TXNL4B | c.609T>G (p.Asn203Lys) c.234T>G (p.Asn78Lys) c.717T>G (p.Asn239Lys) c.432T>G (p.Asn144Lys) c.285-15921A>C (n.285-15921A>C) c.266-385T>G (n.266-385T>G) c.312T>G (p.Asn104Lys) n.2248T>G c.601T>G c.484T>G | |
16 | g.72060279C>A | CA396676957 | HP,TXNL4B | c.610C>A (p.Leu204Ile) c.235C>A (p.Leu79Ile) c.718C>A (p.Leu240Ile) c.433C>A (p.Leu145Ile) c.285-15922G>T (n.285-15922G>T) c.266-384C>A (n.266-384C>A) c.313C>A (p.Leu105Ile) n.2249C>A c.602C>A c.485C>A | |
16 | g.72060279C= | CA2231555188 | HP,TXNL4B | c.610C= (p.Leu204=) c.235C= (p.Leu79=) c.718C= (p.Leu240=) c.433C= (p.Leu145=) c.285-15922G= (n.285-15922G=) c.266-384C= (n.266-384C=) c.313C= (p.Leu105=) n.2249C= c.602C= c.485C= | |
16 | g.72060279C>G | CA396676962 | HP,TXNL4B | c.610C>G (p.Leu204Val) c.235C>G (p.Leu79Val) c.718C>G (p.Leu240Val) c.433C>G (p.Leu145Val) c.285-15922G>C (n.285-15922G>C) c.266-384C>G (n.266-384C>G) c.313C>G (p.Leu105Val) n.2249C>G c.602C>G c.485C>G | |
16 | g.72060279C>T | CA396676969 | HP,TXNL4B | c.610C>T (p.Leu204Phe) c.235C>T (p.Leu79Phe) c.718C>T (p.Leu240Phe) c.433C>T (p.Leu145Phe) c.285-15922G>A (n.285-15922G>A) c.266-384C>T (n.266-384C>T) c.313C>T (p.Leu105Phe) n.2249C>T c.602C>T c.485C>T | dbSNP gnomAD v2 |
16 | g.72060280T>A | CA396676974 | HP,TXNL4B | c.611T>A (p.Leu204His) c.236T>A (p.Leu79His) c.719T>A (p.Leu240His) c.434T>A (p.Leu145His) c.285-15923A>T (n.285-15923A>T) c.266-383T>A (n.266-383T>A) c.314T>A (p.Leu105His) n.2250T>A c.603T>A c.486T>A | |
16 | g.72060280T>C | CA396676977 | HP,TXNL4B | c.611T>C (p.Leu204Pro) c.236T>C (p.Leu79Pro) c.719T>C (p.Leu240Pro) c.434T>C (p.Leu145Pro) c.285-15923A>G (n.285-15923A>G) c.266-383T>C (n.266-383T>C) c.314T>C (p.Leu105Pro) n.2250T>C c.603T>C c.486T>C | |
16 | g.72060280T>G | CA396676985 | HP,TXNL4B | c.611T>G (p.Leu204Arg) c.236T>G (p.Leu79Arg) c.719T>G (p.Leu240Arg) c.434T>G (p.Leu145Arg) c.285-15923A>C (n.285-15923A>C) c.266-383T>G (n.266-383T>G) c.314T>G (p.Leu105Arg) n.2250T>G c.603T>G c.486T>G | |
16 | g.72060281C>A | CA496414652 | HP,TXNL4B | c.612C>A (p.Leu204=) c.237C>A (p.Leu79=) c.720C>A (p.Leu240=) c.435C>A (p.Leu145=) c.285-15924G>T (n.285-15924G>T) c.266-382C>A (n.266-382C>A) c.315C>A (p.Leu105=) n.2251C>A c.604C>A c.487C>A | |
16 | g.72060281C>G | CA496414653 | HP,TXNL4B | c.612C>G (p.Leu204=) c.237C>G (p.Leu79=) c.720C>G (p.Leu240=) c.435C>G (p.Leu145=) c.285-15924G>C (n.285-15924G>C) c.266-382C>G (n.266-382C>G) c.315C>G (p.Leu105=) n.2251C>G c.604C>G c.487C>G | |
16 | g.72060281C>T | CA496414654 | HP,TXNL4B | c.612C>T (p.Leu204=) c.237C>T (p.Leu79=) c.720C>T (p.Leu240=) c.435C>T (p.Leu145=) c.285-15924G>A (n.285-15924G>A) c.266-382C>T (n.266-382C>T) c.315C>T (p.Leu105=) n.2251C>T c.604C>T c.487C>T | COSMIC |
16 | g.72060282T>A | CA396676986 | HP,TXNL4B | c.613T>A (p.Phe205Ile) c.238T>A (p.Phe80Ile) c.721T>A (p.Phe241Ile) c.436T>A (p.Phe146Ile) c.285-15925A>T (n.285-15925A>T) c.266-381T>A (n.266-381T>A) c.316T>A (p.Phe106Ile) n.2252T>A c.605T>A c.488T>A | |
16 | g.72060282T>C | CA396676987 | HP,TXNL4B | c.613T>C (p.Phe205Leu) c.238T>C (p.Phe80Leu) c.721T>C (p.Phe241Leu) c.436T>C (p.Phe146Leu) c.285-15925A>G (n.285-15925A>G) c.266-381T>C (n.266-381T>C) c.316T>C (p.Phe106Leu) n.2252T>C c.605T>C c.488T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060282T>G | CA396676988 | HP,TXNL4B | c.613T>G (p.Phe205Val) c.238T>G (p.Phe80Val) c.721T>G (p.Phe241Val) c.436T>G (p.Phe146Val) c.285-15925A>C (n.285-15925A>C) c.266-381T>G (n.266-381T>G) c.316T>G (p.Phe106Val) n.2252T>G c.605T>G c.488T>G | gnomAD v4 |
16 | g.72060282T= | CA2231555189 | HP,TXNL4B | c.613T= (p.Phe205=) c.238T= (p.Phe80=) c.721T= (p.Phe241=) c.436T= (p.Phe146=) c.285-15925A= (n.285-15925A=) c.266-381T= (n.266-381T=) c.316T= (p.Phe106=) n.2252T= c.605T= c.488T= | |
16 | g.72060283T>A | CA396676991 | HP,TXNL4B | c.614T>A (p.Phe205Tyr) c.239T>A (p.Phe80Tyr) c.722T>A (p.Phe241Tyr) c.437T>A (p.Phe146Tyr) c.285-15926A>T (n.285-15926A>T) c.266-380T>A (n.266-380T>A) c.317T>A (p.Phe106Tyr) n.2253T>A c.606T>A c.489T>A | |
16 | g.72060283T>C | CA396676994 | HP,TXNL4B | c.614T>C (p.Phe205Ser) c.239T>C (p.Phe80Ser) c.722T>C (p.Phe241Ser) c.437T>C (p.Phe146Ser) c.285-15926A>G (n.285-15926A>G) c.266-380T>C (n.266-380T>C) c.317T>C (p.Phe106Ser) n.2253T>C c.606T>C c.489T>C | dbSNP gnomAD v4 |
16 | g.72060283T>G | CA396676998 | HP,TXNL4B | c.614T>G (p.Phe205Cys) c.239T>G (p.Phe80Cys) c.722T>G (p.Phe241Cys) c.437T>G (p.Phe146Cys) c.285-15926A>C (n.285-15926A>C) c.266-380T>G (n.266-380T>G) c.317T>G (p.Phe106Cys) n.2253T>G c.606T>G c.489T>G | |
16 | g.72060283T= | CA2231555191 | HP,TXNL4B | c.614T= (p.Phe205=) c.239T= (p.Phe80=) c.722T= (p.Phe241=) c.437T= (p.Phe146=) c.285-15926A= (n.285-15926A=) c.266-380T= (n.266-380T=) c.317T= (p.Phe106=) n.2253T= c.606T= c.489T= | |
16 | g.72060283_72060284delinsTC | CA2231555190 | HP,TXNL4B | c.614_615delinsTC (p.Phe205=) c.239_240delinsTC (p.Phe80=) c.722_723delinsTC (p.Phe241=) c.437_438delinsTC (p.Phe146=) c.285-15927_285-15926delinsGA (n.285-15927_285-15926delinsGA) c.266-380_266-379delinsTC (n.266-380_266-379delinsTC) c.317_318delinsTC (p.Phe106=) n.2253_2254delinsTC c.606_607delinsTC c.489_490delinsTC | |
16 | g.72060284C>A | CA396677004 | HP,TXNL4B | c.615C>A (p.Phe205Leu) c.240C>A (p.Phe80Leu) c.723C>A (p.Phe241Leu) c.438C>A (p.Phe146Leu) c.285-15927G>T (n.285-15927G>T) c.266-379C>A (n.266-379C>A) c.318C>A (p.Phe106Leu) n.2254C>A c.607C>A c.490C>A | |
16 | g.72060284C>G | CA396677006 | HP,TXNL4B | c.615C>G (p.Phe205Leu) c.240C>G (p.Phe80Leu) c.723C>G (p.Phe241Leu) c.438C>G (p.Phe146Leu) c.285-15927G>C (n.285-15927G>C) c.266-379C>G (n.266-379C>G) c.318C>G (p.Phe106Leu) n.2254C>G c.607C>G c.490C>G | |
16 | g.72060284C>T | CA496414801 | HP,TXNL4B | c.615C>T (p.Phe205=) c.240C>T (p.Phe80=) c.723C>T (p.Phe241=) c.438C>T (p.Phe146=) c.285-15927G>A (n.285-15927G>A) c.266-379C>T (n.266-379C>T) c.318C>T (p.Phe106=) n.2254C>T c.607C>T c.490C>T | |
16 | g.72060285del | CA8159148 | HP,TXNL4B | c.616del (p.Leu206Ter) c.241del (p.Leu81Ter) c.724del (p.Leu242Ter) c.439del (p.Leu147Ter) c.285-15927del (n.285-15927del) c.266-378del (n.266-378del) c.319del (p.Leu107Ter) n.2255del c.608del c.491del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060285C>A | CA396677010 | HP,TXNL4B | c.616C>A (p.Leu206Met) c.241C>A (p.Leu81Met) c.724C>A (p.Leu242Met) c.439C>A (p.Leu147Met) c.285-15928G>T (n.285-15928G>T) c.266-378C>A (n.266-378C>A) c.319C>A (p.Leu107Met) n.2255C>A c.608C>A c.491C>A | |
16 | g.72060285C= | CA2231555192 | HP,TXNL4B | c.616C= (p.Leu206=) c.241C= (p.Leu81=) c.724C= (p.Leu242=) c.439C= (p.Leu147=) c.285-15928G= (n.285-15928G=) c.266-378C= (n.266-378C=) c.319C= (p.Leu107=) n.2255C= c.608C= c.491C= | |
16 | g.72060285C>G | CA396677013 | HP,TXNL4B | c.616C>G (p.Leu206Val) c.241C>G (p.Leu81Val) c.724C>G (p.Leu242Val) c.439C>G (p.Leu147Val) c.285-15928G>C (n.285-15928G>C) c.266-378C>G (n.266-378C>G) c.319C>G (p.Leu107Val) n.2255C>G c.608C>G c.491C>G | |
16 | g.72060285C>T | CA496414804 | HP,TXNL4B | c.616C>T (p.Leu206=) c.241C>T (p.Leu81=) c.724C>T (p.Leu242=) c.439C>T (p.Leu147=) c.285-15928G>A (n.285-15928G>A) c.266-378C>T (n.266-378C>T) c.319C>T (p.Leu107=) n.2255C>T c.608C>T c.491C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060286T>A | CA396677016 | HP,TXNL4B | c.617T>A (p.Leu206Gln) c.242T>A (p.Leu81Gln) c.725T>A (p.Leu242Gln) c.440T>A (p.Leu147Gln) c.285-15929A>T (n.285-15929A>T) c.266-377T>A (n.266-377T>A) c.320T>A (p.Leu107Gln) n.2256T>A c.609T>A c.492T>A | |
16 | g.72060286T>C | CA396677019 | HP,TXNL4B | c.617T>C (p.Leu206Pro) c.242T>C (p.Leu81Pro) c.725T>C (p.Leu242Pro) c.440T>C (p.Leu147Pro) c.285-15929A>G (n.285-15929A>G) c.266-377T>C (n.266-377T>C) c.320T>C (p.Leu107Pro) n.2256T>C c.609T>C c.492T>C | |
16 | g.72060286T>G | CA396677022 | HP,TXNL4B | c.617T>G (p.Leu206Arg) c.242T>G (p.Leu81Arg) c.725T>G (p.Leu242Arg) c.440T>G (p.Leu147Arg) c.285-15929A>C (n.285-15929A>C) c.266-377T>G (n.266-377T>G) c.320T>G (p.Leu107Arg) n.2256T>G c.609T>G c.492T>G | |
16 | g.72060287G>A | CA8159149 | HP,TXNL4B | c.618G>A (p.Leu206=) c.243G>A (p.Leu81=) c.726G>A (p.Leu242=) c.441G>A (p.Leu147=) c.285-15930C>T (n.285-15930C>T) c.266-376G>A (n.266-376G>A) c.321G>A (p.Leu107=) n.2257G>A c.610G>A c.493G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060287G>C | CA496414806 | HP,TXNL4B | c.618G>C (p.Leu206=) c.243G>C (p.Leu81=) c.726G>C (p.Leu242=) c.441G>C (p.Leu147=) c.285-15930C>G (n.285-15930C>G) c.266-376G>C (n.266-376G>C) c.321G>C (p.Leu107=) n.2257G>C c.610G>C c.493G>C | |
16 | g.72060287G= | CA2231555193 | HP,TXNL4B | c.618G= (p.Leu206=) c.243G= (p.Leu81=) c.726G= (p.Leu242=) c.441G= (p.Leu147=) c.285-15930C= (n.285-15930C=) c.266-376G= (n.266-376G=) c.321G= (p.Leu107=) n.2257G= c.610G= c.493G= | |
16 | g.72060287G>T | CA496414807 | HP,TXNL4B | c.618G>T (p.Leu206=) c.243G>T (p.Leu81=) c.726G>T (p.Leu242=) c.441G>T (p.Leu147=) c.285-15930C>A (n.285-15930C>A) c.266-376G>T (n.266-376G>T) c.321G>T (p.Leu107=) n.2257G>T c.610G>T c.493G>T | |
16 | g.72060288A>C | CA396677026 | HP,TXNL4B | c.619A>C (p.Asn207His) c.244A>C (p.Asn82His) c.727A>C (p.Asn243His) c.442A>C (p.Asn148His) c.285-15931T>G (n.285-15931T>G) c.266-375A>C (n.266-375A>C) c.322A>C (p.Asn108His) n.2258A>C c.611A>C c.494A>C | |
16 | g.72060288A>G | CA396677033 | HP,TXNL4B | c.619A>G (p.Asn207Asp) c.244A>G (p.Asn82Asp) c.727A>G (p.Asn243Asp) c.442A>G (p.Asn148Asp) c.285-15931T>C (n.285-15931T>C) c.266-375A>G (n.266-375A>G) c.322A>G (p.Asn108Asp) n.2258A>G c.611A>G c.494A>G | |
16 | g.72060288A>T | CA396677036 | HP,TXNL4B | c.619A>T (p.Asn207Tyr) c.244A>T (p.Asn82Tyr) c.727A>T (p.Asn243Tyr) c.442A>T (p.Asn148Tyr) c.285-15931T>A (n.285-15931T>A) c.266-375A>T (n.266-375A>T) c.322A>T (p.Asn108Tyr) n.2258A>T c.611A>T c.494A>T | |
16 | g.72060289A= | CA2231555194 | HP,TXNL4B | c.620A= (p.Asn207=) c.245A= (p.Asn82=) c.728A= (p.Asn243=) c.443A= (p.Asn148=) c.285-15932T= (n.285-15932T=) c.266-374A= (n.266-374A=) c.323A= (p.Asn108=) n.2259A= c.612A= c.495A= | |
16 | g.72060289A>C | CA396677040 | HP,TXNL4B | c.620A>C (p.Asn207Thr) c.245A>C (p.Asn82Thr) c.728A>C (p.Asn243Thr) c.443A>C (p.Asn148Thr) c.285-15932T>G (n.285-15932T>G) c.266-374A>C (n.266-374A>C) c.323A>C (p.Asn108Thr) n.2259A>C c.612A>C c.495A>C | |
16 | g.72060289A>G | CA8159150 | HP,TXNL4B | c.620A>G (p.Asn207Ser) c.245A>G (p.Asn82Ser) c.728A>G (p.Asn243Ser) c.443A>G (p.Asn148Ser) c.285-15932T>C (n.285-15932T>C) c.266-374A>G (n.266-374A>G) c.323A>G (p.Asn108Ser) n.2259A>G c.612A>G c.495A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060289A>T | CA396677056 | HP,TXNL4B | c.620A>T (p.Asn207Ile) c.245A>T (p.Asn82Ile) c.728A>T (p.Asn243Ile) c.443A>T (p.Asn148Ile) c.285-15932T>A (n.285-15932T>A) c.266-374A>T (n.266-374A>T) c.323A>T (p.Asn108Ile) n.2259A>T c.612A>T c.495A>T | |
16 | g.72060290C>A | CA396677065 | HP,TXNL4B | c.621C>A (p.Asn207Lys) c.246C>A (p.Asn82Lys) c.729C>A (p.Asn243Lys) c.444C>A (p.Asn148Lys) c.285-15933G>T (n.285-15933G>T) c.266-373C>A (n.266-373C>A) c.324C>A (p.Asn108Lys) n.2260C>A c.613C>A c.496C>A | |
16 | g.72060290C= | CA2231555195 | HP,TXNL4B | c.621C= (p.Asn207=) c.246C= (p.Asn82=) c.729C= (p.Asn243=) c.444C= (p.Asn148=) c.285-15933G= (n.285-15933G=) c.266-373C= (n.266-373C=) c.324C= (p.Asn108=) n.2260C= c.613C= c.496C= | |
16 | g.72060290C>G | CA396677063 | HP,TXNL4B | c.621C>G (p.Asn207Lys) c.246C>G (p.Asn82Lys) c.729C>G (p.Asn243Lys) c.444C>G (p.Asn148Lys) c.285-15933G>C (n.285-15933G>C) c.266-373C>G (n.266-373C>G) c.324C>G (p.Asn108Lys) n.2260C>G c.613C>G c.496C>G | |
16 | g.72060290C>T | CA8159151 | HP,TXNL4B | c.621C>T (p.Asn207=) c.246C>T (p.Asn82=) c.729C>T (p.Asn243=) c.444C>T (p.Asn148=) c.285-15933G>A (n.285-15933G>A) c.266-373C>T (n.266-373C>T) c.324C>T (p.Asn108=) n.2260C>T c.613C>T c.496C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060291C>A | CA396677070 | HP,TXNL4B | c.622C>A (p.His208Asn) c.247C>A (p.His83Asn) c.730C>A (p.His244Asn) c.445C>A (p.His149Asn) c.285-15934G>T (n.285-15934G>T) c.266-372C>A (n.266-372C>A) c.325C>A (p.His109Asn) n.2261C>A c.614C>A c.497C>A | |
16 | g.72060291C>G | CA396677073 | HP,TXNL4B | c.622C>G (p.His208Asp) c.247C>G (p.His83Asp) c.730C>G (p.His244Asp) c.445C>G (p.His149Asp) c.285-15934G>C (n.285-15934G>C) c.266-372C>G (n.266-372C>G) c.325C>G (p.His109Asp) n.2261C>G c.614C>G c.497C>G | |
16 | g.72060291C>T | CA396677075 | HP,TXNL4B | c.622C>T (p.His208Tyr) c.247C>T (p.His83Tyr) c.730C>T (p.His244Tyr) c.445C>T (p.His149Tyr) c.285-15934G>A (n.285-15934G>A) c.266-372C>T (n.266-372C>T) c.325C>T (p.His109Tyr) n.2261C>T c.614C>T c.497C>T | |
16 | g.72060292A= | CA2231555196 | HP,TXNL4B | c.623A= (p.His208=) c.248A= (p.His83=) c.731A= (p.His244=) c.446A= (p.His149=) c.285-15935T= (n.285-15935T=) c.266-371A= (n.266-371A=) c.326A= (p.His109=) n.2262A= c.615A= c.498A= | |
16 | g.72060292A>C | CA396677076 | HP,TXNL4B | c.623A>C (p.His208Pro) c.248A>C (p.His83Pro) c.731A>C (p.His244Pro) c.446A>C (p.His149Pro) c.285-15935T>G (n.285-15935T>G) c.266-371A>C (n.266-371A>C) c.326A>C (p.His109Pro) n.2262A>C c.615A>C c.498A>C | gnomAD v4 |
16 | g.72060292A>G | CA396677082 | HP,TXNL4B | c.623A>G (p.His208Arg) c.248A>G (p.His83Arg) c.731A>G (p.His244Arg) c.446A>G (p.His149Arg) c.285-15935T>C (n.285-15935T>C) c.266-371A>G (n.266-371A>G) c.326A>G (p.His109Arg) n.2262A>G c.615A>G c.498A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060292A>T | CA396677085 | HP,TXNL4B | c.623A>T (p.His208Leu) c.248A>T (p.His83Leu) c.731A>T (p.His244Leu) c.446A>T (p.His149Leu) c.285-15935T>A (n.285-15935T>A) c.266-371A>T (n.266-371A>T) c.326A>T (p.His109Leu) n.2262A>T c.615A>T c.498A>T | |
16 | g.72060293T>A | CA396677089 | HP,TXNL4B | c.624T>A (p.His208Gln) c.249T>A (p.His83Gln) c.732T>A (p.His244Gln) c.447T>A (p.His149Gln) c.285-15936A>T (n.285-15936A>T) c.266-370T>A (n.266-370T>A) c.327T>A (p.His109Gln) n.2263T>A c.616T>A c.499T>A | |
16 | g.72060293T>C | CA496414819 | HP,TXNL4B | c.624T>C (p.His208=) c.249T>C (p.His83=) c.732T>C (p.His244=) c.447T>C (p.His149=) c.285-15936A>G (n.285-15936A>G) c.266-370T>C (n.266-370T>C) c.327T>C (p.His109=) n.2263T>C c.616T>C c.499T>C | |
16 | g.72060293T>G | CA396677092 | HP,TXNL4B | c.624T>G (p.His208Gln) c.249T>G (p.His83Gln) c.732T>G (p.His244Gln) c.447T>G (p.His149Gln) c.285-15936A>C (n.285-15936A>C) c.266-370T>G (n.266-370T>G) c.327T>G (p.His109Gln) n.2263T>G c.616T>G c.499T>G | |
16 | g.72060294T>A | CA396677098 | HP,TXNL4B | c.625T>A (p.Ser209Thr) c.250T>A (p.Ser84Thr) c.733T>A (p.Ser245Thr) c.448T>A (p.Ser150Thr) c.285-15937A>T (n.285-15937A>T) c.266-369T>A (n.266-369T>A) c.328T>A (p.Ser110Thr) n.2264T>A c.617T>A c.500T>A | |
16 | g.72060294T>C | CA396677100 | HP,TXNL4B | c.625T>C (p.Ser209Pro) c.250T>C (p.Ser84Pro) c.733T>C (p.Ser245Pro) c.448T>C (p.Ser150Pro) c.285-15937A>G (n.285-15937A>G) c.266-369T>C (n.266-369T>C) c.328T>C (p.Ser110Pro) n.2264T>C c.617T>C c.500T>C | |
16 | g.72060294T>G | CA396677101 | HP,TXNL4B | c.625T>G (p.Ser209Ala) c.250T>G (p.Ser84Ala) c.733T>G (p.Ser245Ala) c.448T>G (p.Ser150Ala) c.285-15937A>C (n.285-15937A>C) c.266-369T>G (n.266-369T>G) c.328T>G (p.Ser110Ala) n.2264T>G c.617T>G c.500T>G | |
16 | g.72060295C>A | CA396677105 | HP,TXNL4B | c.626C>A (p.Ser209Ter) c.251C>A (p.Ser84Ter) c.734C>A (p.Ser245Ter) c.449C>A (p.Ser150Ter) c.285-15938G>T (n.285-15938G>T) c.266-368C>A (n.266-368C>A) c.329C>A (p.Ser110Ter) n.2265C>A c.618C>A c.501C>A | |
16 | g.72060295C>G | CA396677108 | HP,TXNL4B | c.626C>G (p.Ser209Ter) c.251C>G (p.Ser84Ter) c.734C>G (p.Ser245Ter) c.449C>G (p.Ser150Ter) c.285-15938G>C (n.285-15938G>C) c.266-368C>G (n.266-368C>G) c.329C>G (p.Ser110Ter) n.2265C>G c.618C>G c.501C>G | |
16 | g.72060295C>T | CA396677109 | HP,TXNL4B | c.626C>T (p.Ser209Leu) c.251C>T (p.Ser84Leu) c.734C>T (p.Ser245Leu) c.449C>T (p.Ser150Leu) c.285-15938G>A (n.285-15938G>A) c.266-368C>T (n.266-368C>T) c.329C>T (p.Ser110Leu) n.2265C>T c.618C>T c.501C>T | gnomAD v4 |
16 | g.72060296A>C | CA496414824 | HP,TXNL4B | c.627A>C (p.Ser209=) c.252A>C (p.Ser84=) c.735A>C (p.Ser245=) c.450A>C (p.Ser150=) c.285-15939T>G (n.285-15939T>G) c.266-367A>C (n.266-367A>C) c.330A>C (p.Ser110=) n.2266A>C c.619A>C c.502A>C | |
16 | g.72060296A>G | CA496414825 | HP,TXNL4B | c.627A>G (p.Ser209=) c.252A>G (p.Ser84=) c.735A>G (p.Ser245=) c.450A>G (p.Ser150=) c.285-15939T>C (n.285-15939T>C) c.266-367A>G (n.266-367A>G) c.330A>G (p.Ser110=) n.2266A>G c.619A>G c.502A>G | |
16 | g.72060296A>T | CA496414826 | HP,TXNL4B | c.627A>T (p.Ser209=) c.252A>T (p.Ser84=) c.735A>T (p.Ser245=) c.450A>T (p.Ser150=) c.285-15939T>A (n.285-15939T>A) c.266-367A>T (n.266-367A>T) c.330A>T (p.Ser110=) n.2266A>T c.619A>T c.502A>T | |
16 | g.72060297G>A | CA8159152 | HP,TXNL4B | c.628G>A (p.Glu210Lys) c.253G>A (p.Glu85Lys) c.736G>A (p.Glu246Lys) c.451G>A (p.Glu151Lys) c.285-15940C>T (n.285-15940C>T) c.266-366G>A (n.266-366G>A) c.331G>A (p.Glu111Lys) n.2267G>A c.620G>A c.503G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.72060297G>C | CA396677118 | HP,TXNL4B | c.628G>C (p.Glu210Gln) c.253G>C (p.Glu85Gln) c.736G>C (p.Glu246Gln) c.451G>C (p.Glu151Gln) c.285-15940C>G (n.285-15940C>G) c.266-366G>C (n.266-366G>C) c.331G>C (p.Glu111Gln) n.2267G>C c.620G>C c.503G>C | |
16 | g.72060297G= | CA2231555197 | HP,TXNL4B | c.628G= (p.Glu210=) c.253G= (p.Glu85=) c.736G= (p.Glu246=) c.451G= (p.Glu151=) c.285-15940C= (n.285-15940C=) c.266-366G= (n.266-366G=) c.331G= (p.Glu111=) n.2267G= c.620G= c.503G= | |
16 | g.72060297G>T | CA396677113 | HP,TXNL4B | c.628G>T (p.Glu210Ter) c.253G>T (p.Glu85Ter) c.736G>T (p.Glu246Ter) c.451G>T (p.Glu151Ter) c.285-15940C>A (n.285-15940C>A) c.266-366G>T (n.266-366G>T) c.331G>T (p.Glu111Ter) n.2267G>T c.620G>T c.503G>T | |
16 | g.72060298A>C | CA396677122 | HP,TXNL4B | c.629A>C (p.Glu210Ala) c.254A>C (p.Glu85Ala) c.737A>C (p.Glu246Ala) c.452A>C (p.Glu151Ala) c.285-15941T>G (n.285-15941T>G) c.266-365A>C (n.266-365A>C) c.332A>C (p.Glu111Ala) n.2268A>C c.621A>C c.504A>C | |
16 | g.72060298A>G | CA396677123 | HP,TXNL4B | c.629A>G (p.Glu210Gly) c.254A>G (p.Glu85Gly) c.737A>G (p.Glu246Gly) c.452A>G (p.Glu151Gly) c.285-15941T>C (n.285-15941T>C) c.266-365A>G (n.266-365A>G) c.332A>G (p.Glu111Gly) n.2268A>G c.621A>G c.504A>G | |
16 | g.72060298A>T | CA396677125 | HP,TXNL4B | c.629A>T (p.Glu210Val) c.254A>T (p.Glu85Val) c.737A>T (p.Glu246Val) c.452A>T (p.Glu151Val) c.285-15941T>A (n.285-15941T>A) c.266-365A>T (n.266-365A>T) c.332A>T (p.Glu111Val) n.2268A>T c.621A>T c.504A>T | |
16 | g.72060299A>C | CA396677129 | HP,TXNL4B | c.630A>C (p.Glu210Asp) c.255A>C (p.Glu85Asp) c.738A>C (p.Glu246Asp) c.453A>C (p.Glu151Asp) c.285-15942T>G (n.285-15942T>G) c.266-364A>C (n.266-364A>C) c.333A>C (p.Glu111Asp) n.2269A>C c.622A>C c.505A>C | |
16 | g.72060299A>G | CA496414829 | HP,TXNL4B | c.630A>G (p.Glu210=) c.255A>G (p.Glu85=) c.738A>G (p.Glu246=) c.453A>G (p.Glu151=) c.285-15942T>C (n.285-15942T>C) c.266-364A>G (n.266-364A>G) c.333A>G (p.Glu111=) n.2269A>G c.622A>G c.505A>G | |
16 | g.72060299A>T | CA396677132 | HP,TXNL4B | c.630A>T (p.Glu210Asp) c.255A>T (p.Glu85Asp) c.738A>T (p.Glu246Asp) c.453A>T (p.Glu151Asp) c.285-15942T>A (n.285-15942T>A) c.266-364A>T (n.266-364A>T) c.333A>T (p.Glu111Asp) n.2269A>T c.622A>T c.505A>T | |
16 | g.72060300A= | CA2231555198 | HP,TXNL4B | c.631A= (p.Asn211=) c.256A= (p.Asn86=) c.739A= (p.Asn247=) c.454A= (p.Asn152=) c.285-15943T= (n.285-15943T=) c.266-363A= (n.266-363A=) c.334A= (p.Asn112=) n.2270A= c.623A= c.506A= | |
16 | g.72060300A>C | CA396677136 | HP,TXNL4B | c.631A>C (p.Asn211His) c.256A>C (p.Asn86His) c.739A>C (p.Asn247His) c.454A>C (p.Asn152His) c.285-15943T>G (n.285-15943T>G) c.266-363A>C (n.266-363A>C) c.334A>C (p.Asn112His) n.2270A>C c.623A>C c.506A>C | dbSNP |
16 | g.72060300A>G | CA396677140 | HP,TXNL4B | c.631A>G (p.Asn211Asp) c.256A>G (p.Asn86Asp) c.739A>G (p.Asn247Asp) c.454A>G (p.Asn152Asp) c.285-15943T>C (n.285-15943T>C) c.266-363A>G (n.266-363A>G) c.334A>G (p.Asn112Asp) n.2270A>G c.623A>G c.506A>G | |
16 | g.72060300A>T | CA396677142 | HP,TXNL4B | c.631A>T (p.Asn211Tyr) c.256A>T (p.Asn86Tyr) c.739A>T (p.Asn247Tyr) c.454A>T (p.Asn152Tyr) c.285-15943T>A (n.285-15943T>A) c.266-363A>T (n.266-363A>T) c.334A>T (p.Asn112Tyr) n.2270A>T c.623A>T c.506A>T | |
16 | g.72060301A>C | CA396677144 | HP,TXNL4B | c.632A>C (p.Asn211Thr) c.257A>C (p.Asn86Thr) c.740A>C (p.Asn247Thr) c.455A>C (p.Asn152Thr) c.285-15944T>G (n.285-15944T>G) c.266-362A>C (n.266-362A>C) c.335A>C (p.Asn112Thr) n.2271A>C c.624A>C c.507A>C | |
16 | g.72060301A>G | CA396677147 | HP,TXNL4B | c.632A>G (p.Asn211Ser) c.257A>G (p.Asn86Ser) c.740A>G (p.Asn247Ser) c.455A>G (p.Asn152Ser) c.285-15944T>C (n.285-15944T>C) c.266-362A>G (n.266-362A>G) c.335A>G (p.Asn112Ser) n.2271A>G c.624A>G c.507A>G | |
16 | g.72060301A>T | CA396677151 | HP,TXNL4B | c.632A>T (p.Asn211Ile) c.257A>T (p.Asn86Ile) c.740A>T (p.Asn247Ile) c.455A>T (p.Asn152Ile) c.285-15944T>A (n.285-15944T>A) c.266-362A>T (n.266-362A>T) c.335A>T (p.Asn112Ile) n.2271A>T c.624A>T c.507A>T | |
16 | g.72060302T>A | CA396677162 | HP,TXNL4B | c.633T>A (p.Asn211Lys) c.258T>A (p.Asn86Lys) c.741T>A (p.Asn247Lys) c.456T>A (p.Asn152Lys) c.285-15945A>T (n.285-15945A>T) c.266-361T>A (n.266-361T>A) c.336T>A (p.Asn112Lys) n.2272T>A c.625T>A c.508T>A | |
16 | g.72060302T>C | CA496414834 | HP,TXNL4B | c.633T>C (p.Asn211=) c.258T>C (p.Asn86=) c.741T>C (p.Asn247=) c.456T>C (p.Asn152=) c.285-15945A>G (n.285-15945A>G) c.266-361T>C (n.266-361T>C) c.336T>C (p.Asn112=) n.2272T>C c.625T>C c.508T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060302T>G | CA396677165 | HP,TXNL4B | c.633T>G (p.Asn211Lys) c.258T>G (p.Asn86Lys) c.741T>G (p.Asn247Lys) c.456T>G (p.Asn152Lys) c.285-15945A>C (n.285-15945A>C) c.266-361T>G (n.266-361T>G) c.336T>G (p.Asn112Lys) n.2272T>G c.625T>G c.508T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060302T= | CA2231555199 | HP,TXNL4B | c.633T= (p.Asn211=) c.258T= (p.Asn86=) c.741T= (p.Asn247=) c.456T= (p.Asn152=) c.285-15945A= (n.285-15945A=) c.266-361T= (n.266-361T=) c.336T= (p.Asn112=) n.2272T= c.625T= c.508T= | |
16 | g.72060303G>A | CA396677168 | HP,TXNL4B | c.634G>A (p.Ala212Thr) c.259G>A (p.Ala87Thr) c.742G>A (p.Ala248Thr) c.457G>A (p.Ala153Thr) c.285-15946C>T (n.285-15946C>T) c.266-360G>A (n.266-360G>A) c.337G>A (p.Ala113Thr) n.2273G>A c.626G>A c.509G>A | gnomAD v4 |
16 | g.72060303G>C | CA396677166 | HP,TXNL4B | c.634G>C (p.Ala212Pro) c.259G>C (p.Ala87Pro) c.742G>C (p.Ala248Pro) c.457G>C (p.Ala153Pro) c.285-15946C>G (n.285-15946C>G) c.266-360G>C (n.266-360G>C) c.337G>C (p.Ala113Pro) n.2273G>C c.626G>C c.509G>C | |
16 | g.72060303G>T | CA396677167 | HP,TXNL4B | c.634G>T (p.Ala212Ser) c.259G>T (p.Ala87Ser) c.742G>T (p.Ala248Ser) c.457G>T (p.Ala153Ser) c.285-15946C>A (n.285-15946C>A) c.266-360G>T (n.266-360G>T) c.337G>T (p.Ala113Ser) n.2273G>T c.626G>T c.509G>T | COSMIC |
16 | g.72060304C>A | CA396677169 | HP,TXNL4B | c.635C>A (p.Ala212Glu) c.260C>A (p.Ala87Glu) c.743C>A (p.Ala248Glu) c.458C>A (p.Ala153Glu) c.285-15947G>T (n.285-15947G>T) c.266-359C>A (n.266-359C>A) c.338C>A (p.Ala113Glu) n.2274C>A c.627C>A c.510C>A | |
16 | g.72060304C>G | CA396677170 | HP,TXNL4B | c.635C>G (p.Ala212Gly) c.260C>G (p.Ala87Gly) c.743C>G (p.Ala248Gly) c.458C>G (p.Ala153Gly) c.285-15947G>C (n.285-15947G>C) c.266-359C>G (n.266-359C>G) c.338C>G (p.Ala113Gly) n.2274C>G c.627C>G c.510C>G | |
16 | g.72060304C>T | CA396677173 | HP,TXNL4B | c.635C>T (p.Ala212Val) c.260C>T (p.Ala87Val) c.743C>T (p.Ala248Val) c.458C>T (p.Ala153Val) c.285-15947G>A (n.285-15947G>A) c.266-359C>T (n.266-359C>T) c.338C>T (p.Ala113Val) n.2274C>T c.627C>T c.510C>T | |
16 | g.72060305A>C | CA496414837 | HP,TXNL4B | c.636A>C (p.Ala212=) c.261A>C (p.Ala87=) c.744A>C (p.Ala248=) c.459A>C (p.Ala153=) c.285-15948T>G (n.285-15948T>G) c.266-358A>C (n.266-358A>C) c.339A>C (p.Ala113=) n.2275A>C c.628A>C c.511A>C | gnomAD v4 |
16 | g.72060305A>G | CA496414839 | HP,TXNL4B | c.636A>G (p.Ala212=) c.261A>G (p.Ala87=) c.744A>G (p.Ala248=) c.459A>G (p.Ala153=) c.285-15948T>C (n.285-15948T>C) c.266-358A>G (n.266-358A>G) c.339A>G (p.Ala113=) n.2275A>G c.628A>G c.511A>G | |
16 | g.72060305A>T | CA496414838 | HP,TXNL4B | c.636A>T (p.Ala212=) c.261A>T (p.Ala87=) c.744A>T (p.Ala248=) c.459A>T (p.Ala153=) c.285-15948T>A (n.285-15948T>A) c.266-358A>T (n.266-358A>T) c.339A>T (p.Ala113=) n.2275A>T c.628A>T c.511A>T | |
16 | g.72060306A>C | CA396677176 | HP,TXNL4B | c.637A>C (p.Thr213Pro) c.262A>C (p.Thr88Pro) c.745A>C (p.Thr249Pro) c.460A>C (p.Thr154Pro) c.285-15949T>G (n.285-15949T>G) c.266-357A>C (n.266-357A>C) c.340A>C (p.Thr114Pro) n.2276A>C c.629A>C c.512A>C | |
16 | g.72060306A>G | CA396677177 | HP,TXNL4B | c.637A>G (p.Thr213Ala) c.262A>G (p.Thr88Ala) c.745A>G (p.Thr249Ala) c.460A>G (p.Thr154Ala) c.285-15949T>C (n.285-15949T>C) c.266-357A>G (n.266-357A>G) c.340A>G (p.Thr114Ala) n.2276A>G c.629A>G c.512A>G | |
16 | g.72060306A>T | CA396677179 | HP,TXNL4B | c.637A>T (p.Thr213Ser) c.262A>T (p.Thr88Ser) c.745A>T (p.Thr249Ser) c.460A>T (p.Thr154Ser) c.285-15949T>A (n.285-15949T>A) c.266-357A>T (n.266-357A>T) c.340A>T (p.Thr114Ser) n.2276A>T c.629A>T c.512A>T | |
16 | g.72060307C>A | CA8159154 | HP,TXNL4B | c.638C>A (p.Thr213Lys) c.263C>A (p.Thr88Lys) c.746C>A (p.Thr249Lys) c.461C>A (p.Thr154Lys) c.285-15950G>T (n.285-15950G>T) c.266-356C>A (n.266-356C>A) c.341C>A (p.Thr114Lys) n.2277C>A c.630C>A c.513C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060307C= | CA2231555200 | HP,TXNL4B | c.638C= (p.Thr213=) c.263C= (p.Thr88=) c.746C= (p.Thr249=) c.461C= (p.Thr154=) c.285-15950G= (n.285-15950G=) c.266-356C= (n.266-356C=) c.341C= (p.Thr114=) n.2277C= c.630C= c.513C= | |
16 | g.72060307C>G | CA396677183 | HP,TXNL4B | c.638C>G (p.Thr213Arg) c.263C>G (p.Thr88Arg) c.746C>G (p.Thr249Arg) c.461C>G (p.Thr154Arg) c.285-15950G>C (n.285-15950G>C) c.266-356C>G (n.266-356C>G) c.341C>G (p.Thr114Arg) n.2277C>G c.630C>G c.513C>G | |
16 | g.72060307C>T | CA8159153 | HP,TXNL4B | c.638C>T (p.Thr213Ile) c.263C>T (p.Thr88Ile) c.746C>T (p.Thr249Ile) c.461C>T (p.Thr154Ile) c.285-15950G>A (n.285-15950G>A) c.266-356C>T (n.266-356C>T) c.341C>T (p.Thr114Ile) n.2277C>T c.630C>T c.513C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060308A>C | CA496414841 | HP,TXNL4B | c.639A>C (p.Thr213=) c.264A>C (p.Thr88=) c.747A>C (p.Thr249=) c.462A>C (p.Thr154=) c.285-15951T>G (n.285-15951T>G) c.266-355A>C (n.266-355A>C) c.342A>C (p.Thr114=) n.2278A>C c.631A>C c.514A>C | |
16 | g.72060308A>G | CA496414842 | HP,TXNL4B | c.639A>G (p.Thr213=) c.264A>G (p.Thr88=) c.747A>G (p.Thr249=) c.462A>G (p.Thr154=) c.285-15951T>C (n.285-15951T>C) c.266-355A>G (n.266-355A>G) c.342A>G (p.Thr114=) n.2278A>G c.631A>G c.514A>G | |
16 | g.72060308A>T | CA496414843 | HP,TXNL4B | c.639A>T (p.Thr213=) c.264A>T (p.Thr88=) c.747A>T (p.Thr249=) c.462A>T (p.Thr154=) c.285-15951T>A (n.285-15951T>A) c.266-355A>T (n.266-355A>T) c.342A>T (p.Thr114=) n.2278A>T c.631A>T c.514A>T | |
16 | g.72060309G>A | CA396677189 | HP,TXNL4B | c.640G>A (p.Ala214Thr) c.265G>A (p.Ala89Thr) c.748G>A (p.Ala250Thr) c.463G>A (p.Ala155Thr) c.285-15952C>T (n.285-15952C>T) c.266-354G>A (n.266-354G>A) c.343G>A (p.Ala115Thr) n.2279G>A c.632G>A c.515G>A | |
16 | g.72060309G>C | CA396677192 | HP,TXNL4B | c.640G>C (p.Ala214Pro) c.265G>C (p.Ala89Pro) c.748G>C (p.Ala250Pro) c.463G>C (p.Ala155Pro) c.285-15952C>G (n.285-15952C>G) c.266-354G>C (n.266-354G>C) c.343G>C (p.Ala115Pro) n.2279G>C c.632G>C c.515G>C | |
16 | g.72060309G>T | CA396677194 | HP,TXNL4B | c.640G>T (p.Ala214Ser) c.265G>T (p.Ala89Ser) c.748G>T (p.Ala250Ser) c.463G>T (p.Ala155Ser) c.285-15952C>A (n.285-15952C>A) c.266-354G>T (n.266-354G>T) c.343G>T (p.Ala115Ser) n.2279G>T c.632G>T c.515G>T | |
16 | g.72060310del | CA2576057060 | HP,TXNL4B | c.641del (p.Ala214GlyfsTer8) c.266del (p.Ala89GlyfsTer8) c.749del (p.Ala250GlyfsTer8) c.464del (p.Ala155GlyfsTer8) c.285-15953del (n.285-15953del) c.266-353del (n.266-353del) c.344del (p.Ala115GlyfsTer8) n.2280del c.633del c.516del | gnomAD v4 |
16 | g.72060310C>A | CA396677197 | HP,TXNL4B | c.641C>A (p.Ala214Glu) c.266C>A (p.Ala89Glu) c.749C>A (p.Ala250Glu) c.464C>A (p.Ala155Glu) c.285-15953G>T (n.285-15953G>T) c.266-353C>A (n.266-353C>A) c.344C>A (p.Ala115Glu) n.2280C>A c.633C>A c.516C>A | |
16 | g.72060310C= | CA2231555201 | HP,TXNL4B | c.641C= (p.Ala214=) c.266C= (p.Ala89=) c.749C= (p.Ala250=) c.464C= (p.Ala155=) c.285-15953G= (n.285-15953G=) c.266-353C= (n.266-353C=) c.344C= (p.Ala115=) n.2280C= c.633C= c.516C= | |
16 | g.72060310C>G | CA396677199 | HP,TXNL4B | c.641C>G (p.Ala214Gly) c.266C>G (p.Ala89Gly) c.749C>G (p.Ala250Gly) c.464C>G (p.Ala155Gly) c.285-15953G>C (n.285-15953G>C) c.266-353C>G (n.266-353C>G) c.344C>G (p.Ala115Gly) n.2280C>G c.633C>G c.516C>G | |
16 | g.72060310C>T | CA8159155 | HP,TXNL4B | c.641C>T (p.Ala214Val) c.266C>T (p.Ala89Val) c.749C>T (p.Ala250Val) c.464C>T (p.Ala155Val) c.285-15953G>A (n.285-15953G>A) c.266-353C>T (n.266-353C>T) c.344C>T (p.Ala115Val) n.2280C>T c.633C>T c.516C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060311G>A | CA8159156 | HP,TXNL4B | c.642G>A (p.Ala214=) c.267G>A (p.Ala89=) c.750G>A (p.Ala250=) c.465G>A (p.Ala155=) c.285-15954C>T (n.285-15954C>T) c.266-352G>A (n.266-352G>A) c.345G>A (p.Ala115=) n.2281G>A c.634G>A c.517G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.72060311G>C | CA496414847 | HP,TXNL4B | c.642G>C (p.Ala214=) c.267G>C (p.Ala89=) c.750G>C (p.Ala250=) c.465G>C (p.Ala155=) c.285-15954C>G (n.285-15954C>G) c.266-352G>C (n.266-352G>C) c.345G>C (p.Ala115=) n.2281G>C c.634G>C c.517G>C | |
16 | g.72060311G= | CA2231555202 | HP,TXNL4B | c.642G= (p.Ala214=) c.267G= (p.Ala89=) c.750G= (p.Ala250=) c.465G= (p.Ala155=) c.285-15954C= (n.285-15954C=) c.266-352G= (n.266-352G=) c.345G= (p.Ala115=) n.2281G= c.634G= c.517G= | |
16 | g.72060311G>T | CA496414848 | HP,TXNL4B | c.642G>T (p.Ala214=) c.267G>T (p.Ala89=) c.750G>T (p.Ala250=) c.465G>T (p.Ala155=) c.285-15954C>A (n.285-15954C>A) c.266-352G>T (n.266-352G>T) c.345G>T (p.Ala115=) n.2281G>T c.634G>T c.517G>T | |
16 | g.72060312A>C | CA396677203 | HP,TXNL4B | c.643A>C (p.Lys215Gln) c.268A>C (p.Lys90Gln) c.751A>C (p.Lys251Gln) c.466A>C (p.Lys156Gln) c.285-15955T>G (n.285-15955T>G) c.266-351A>C (n.266-351A>C) c.346A>C (p.Lys116Gln) n.2282A>C c.635A>C c.518A>C | |
16 | g.72060312A>G | CA396677205 | HP,TXNL4B | c.643A>G (p.Lys215Glu) c.268A>G (p.Lys90Glu) c.751A>G (p.Lys251Glu) c.466A>G (p.Lys156Glu) c.285-15955T>C (n.285-15955T>C) c.266-351A>G (n.266-351A>G) c.346A>G (p.Lys116Glu) n.2282A>G c.635A>G c.518A>G | |
16 | g.72060312A>T | CA396677209 | HP,TXNL4B | c.643A>T (p.Lys215Ter) c.268A>T (p.Lys90Ter) c.751A>T (p.Lys251Ter) c.466A>T (p.Lys156Ter) c.285-15955T>A (n.285-15955T>A) c.266-351A>T (n.266-351A>T) c.346A>T (p.Lys116Ter) n.2282A>T c.635A>T c.518A>T | |
16 | g.72060314dup | CA2576057061 | HP,TXNL4B | c.645dup (p.Asp216ArgfsTer19) c.270dup (p.Asp91ArgfsTer19) c.753dup (p.Asp252ArgfsTer19) c.468dup (p.Asp157ArgfsTer19) c.285-15955dup (n.285-15955dup) c.266-349dup (n.266-349dup) c.348dup (p.Asp117ArgfsTer19) n.2284dup c.637dup c.520dup | |
16 | g.72060313A>C | CA396677212 | HP,TXNL4B | c.644A>C (p.Lys215Thr) c.269A>C (p.Lys90Thr) c.752A>C (p.Lys251Thr) c.467A>C (p.Lys156Thr) c.285-15956T>G (n.285-15956T>G) c.266-350A>C (n.266-350A>C) c.347A>C (p.Lys116Thr) n.2283A>C c.636A>C c.519A>C | |
16 | g.72060313A>G | CA396677213 | HP,TXNL4B | c.644A>G (p.Lys215Arg) c.269A>G (p.Lys90Arg) c.752A>G (p.Lys251Arg) c.467A>G (p.Lys156Arg) c.285-15956T>C (n.285-15956T>C) c.266-350A>G (n.266-350A>G) c.347A>G (p.Lys116Arg) n.2283A>G c.636A>G c.519A>G | |
16 | g.72060313A>T | CA396677215 | HP,TXNL4B | c.644A>T (p.Lys215Ile) c.269A>T (p.Lys90Ile) c.752A>T (p.Lys251Ile) c.467A>T (p.Lys156Ile) c.285-15956T>A (n.285-15956T>A) c.266-350A>T (n.266-350A>T) c.347A>T (p.Lys116Ile) n.2283A>T c.636A>T c.519A>T | |
16 | g.72060314A>C | CA396677218 | HP,TXNL4B | c.645A>C (p.Lys215Asn) c.270A>C (p.Lys90Asn) c.753A>C (p.Lys251Asn) c.468A>C (p.Lys156Asn) c.285-15957T>G (n.285-15957T>G) c.266-349A>C (n.266-349A>C) c.348A>C (p.Lys116Asn) n.2284A>C c.637A>C c.520A>C | |
16 | g.72060314A>G | CA496414849 | HP,TXNL4B | c.645A>G (p.Lys215=) c.270A>G (p.Lys90=) c.753A>G (p.Lys251=) c.468A>G (p.Lys156=) c.285-15957T>C (n.285-15957T>C) c.266-349A>G (n.266-349A>G) c.348A>G (p.Lys116=) n.2284A>G c.637A>G c.520A>G | dbSNP gnomAD v4 |
16 | g.72060314A>T | CA396677221 | HP,TXNL4B | c.645A>T (p.Lys215Asn) c.270A>T (p.Lys90Asn) c.753A>T (p.Lys251Asn) c.468A>T (p.Lys156Asn) c.285-15957T>A (n.285-15957T>A) c.266-349A>T (n.266-349A>T) c.348A>T (p.Lys116Asn) n.2284A>T c.637A>T c.520A>T | |
16 | g.72060315G>A | CA396677224 | HP,TXNL4B | c.646G>A (p.Asp216Asn) c.271G>A (p.Asp91Asn) c.754G>A (p.Asp252Asn) c.469G>A (p.Asp157Asn) c.285-15958C>T (n.285-15958C>T) c.266-348G>A (n.266-348G>A) c.349G>A (p.Asp117Asn) n.2285G>A c.638G>A c.521G>A | |
16 | g.72060315G>C | CA396677226 | HP,TXNL4B | c.646G>C (p.Asp216His) c.271G>C (p.Asp91His) c.754G>C (p.Asp252His) c.469G>C (p.Asp157His) c.285-15958C>G (n.285-15958C>G) c.266-348G>C (n.266-348G>C) c.349G>C (p.Asp117His) n.2285G>C c.638G>C c.521G>C | gnomAD v4 |
16 | g.72060315G>T | CA396677229 | HP,TXNL4B | c.646G>T (p.Asp216Tyr) c.271G>T (p.Asp91Tyr) c.754G>T (p.Asp252Tyr) c.469G>T (p.Asp157Tyr) c.285-15958C>A (n.285-15958C>A) c.266-348G>T (n.266-348G>T) c.349G>T (p.Asp117Tyr) n.2285G>T c.638G>T c.521G>T | |
16 | g.72060316A>C | CA396677231 | HP,TXNL4B | c.647A>C (p.Asp216Ala) c.272A>C (p.Asp91Ala) c.755A>C (p.Asp252Ala) c.470A>C (p.Asp157Ala) c.285-15959T>G (n.285-15959T>G) c.266-347A>C (n.266-347A>C) c.350A>C (p.Asp117Ala) n.2286A>C c.639A>C c.522A>C | |
16 | g.72060316A>G | CA396677233 | HP,TXNL4B | c.647A>G (p.Asp216Gly) c.272A>G (p.Asp91Gly) c.755A>G (p.Asp252Gly) c.470A>G (p.Asp157Gly) c.285-15959T>C (n.285-15959T>C) c.266-347A>G (n.266-347A>G) c.350A>G (p.Asp117Gly) n.2286A>G c.639A>G c.522A>G | gnomAD v4 |
16 | g.72060316A>T | CA396677234 | HP,TXNL4B | c.647A>T (p.Asp216Val) c.272A>T (p.Asp91Val) c.755A>T (p.Asp252Val) c.470A>T (p.Asp157Val) c.285-15959T>A (n.285-15959T>A) c.266-347A>T (n.266-347A>T) c.350A>T (p.Asp117Val) n.2286A>T c.639A>T c.522A>T | |
16 | g.72060317C>A | CA396677237 | HP,TXNL4B | c.648C>A (p.Asp216Glu) c.273C>A (p.Asp91Glu) c.756C>A (p.Asp252Glu) c.471C>A (p.Asp157Glu) c.285-15960G>T (n.285-15960G>T) c.266-346C>A (n.266-346C>A) c.351C>A (p.Asp117Glu) n.2287C>A c.640C>A c.523C>A | |
16 | g.72060317C>G | CA396677238 | HP,TXNL4B | c.648C>G (p.Asp216Glu) c.273C>G (p.Asp91Glu) c.756C>G (p.Asp252Glu) c.471C>G (p.Asp157Glu) c.285-15960G>C (n.285-15960G>C) c.266-346C>G (n.266-346C>G) c.351C>G (p.Asp117Glu) n.2287C>G c.640C>G c.523C>G | |
16 | g.72060317C>T | CA496414851 | HP,TXNL4B | c.648C>T (p.Asp216=) c.273C>T (p.Asp91=) c.756C>T (p.Asp252=) c.471C>T (p.Asp157=) c.285-15960G>A (n.285-15960G>A) c.266-346C>T (n.266-346C>T) c.351C>T (p.Asp117=) n.2287C>T c.640C>T c.523C>T | |
16 | g.72060318A= | CA2231555203 | HP,TXNL4B | c.649A= (p.Ile217=) c.274A= (p.Ile92=) c.757A= (p.Ile253=) c.472A= (p.Ile158=) c.285-15961T= (n.285-15961T=) c.266-345A= (n.266-345A=) c.352A= (p.Ile118=) n.2288A= c.641A= c.524A= | |
16 | g.72060318A>C | CA396677240 | HP,TXNL4B | c.649A>C (p.Ile217Leu) c.274A>C (p.Ile92Leu) c.757A>C (p.Ile253Leu) c.472A>C (p.Ile158Leu) c.285-15961T>G (n.285-15961T>G) c.266-345A>C (n.266-345A>C) c.352A>C (p.Ile118Leu) n.2288A>C c.641A>C c.524A>C | |
16 | g.72060318A>G | CA8159157 | HP,TXNL4B | c.649A>G (p.Ile217Val) c.274A>G (p.Ile92Val) c.757A>G (p.Ile253Val) c.472A>G (p.Ile158Val) c.285-15961T>C (n.285-15961T>C) c.266-345A>G (n.266-345A>G) c.352A>G (p.Ile118Val) n.2288A>G c.641A>G c.524A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060318A>T | CA396677242 | HP,TXNL4B | c.649A>T (p.Ile217Phe) c.274A>T (p.Ile92Phe) c.757A>T (p.Ile253Phe) c.472A>T (p.Ile158Phe) c.285-15961T>A (n.285-15961T>A) c.266-345A>T (n.266-345A>T) c.352A>T (p.Ile118Phe) n.2288A>T c.641A>T c.524A>T | |
16 | g.72060319T>A | CA396677243 | HP,TXNL4B | c.650T>A (p.Ile217Asn) c.275T>A (p.Ile92Asn) c.758T>A (p.Ile253Asn) c.473T>A (p.Ile158Asn) c.285-15962A>T (n.285-15962A>T) c.266-344T>A (n.266-344T>A) c.353T>A (p.Ile118Asn) n.2289T>A c.642T>A c.525T>A | |
16 | g.72060319T>C | CA8159158 | HP,TXNL4B | c.650T>C (p.Ile217Thr) c.275T>C (p.Ile92Thr) c.758T>C (p.Ile253Thr) c.473T>C (p.Ile158Thr) c.285-15962A>G (n.285-15962A>G) c.266-344T>C (n.266-344T>C) c.353T>C (p.Ile118Thr) n.2289T>C c.642T>C c.525T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060319T>G | CA396677244 | HP,TXNL4B | c.650T>G (p.Ile217Ser) c.275T>G (p.Ile92Ser) c.758T>G (p.Ile253Ser) c.473T>G (p.Ile158Ser) c.285-15962A>C (n.285-15962A>C) c.266-344T>G (n.266-344T>G) c.353T>G (p.Ile118Ser) n.2289T>G c.642T>G c.525T>G | |
16 | g.72060319T= | CA2231555204 | HP,TXNL4B | c.650T= (p.Ile217=) c.275T= (p.Ile92=) c.758T= (p.Ile253=) c.473T= (p.Ile158=) c.285-15962A= (n.285-15962A=) c.266-344T= (n.266-344T=) c.353T= (p.Ile118=) n.2289T= c.642T= c.525T= | |
16 | g.72060320T>A | CA496414853 | HP,TXNL4B | c.651T>A (p.Ile217=) c.276T>A (p.Ile92=) c.759T>A (p.Ile253=) c.474T>A (p.Ile158=) c.285-15963A>T (n.285-15963A>T) c.266-343T>A (n.266-343T>A) c.354T>A (p.Ile118=) n.2290T>A c.643T>A c.526T>A | |
16 | g.72060320T>C | CA496414854 | HP,TXNL4B | c.651T>C (p.Ile217=) c.276T>C (p.Ile92=) c.759T>C (p.Ile253=) c.474T>C (p.Ile158=) c.285-15963A>G (n.285-15963A>G) c.266-343T>C (n.266-343T>C) c.354T>C (p.Ile118=) n.2290T>C c.643T>C c.526T>C | gnomAD v4 |
16 | g.72060320T>G | CA396677246 | HP,TXNL4B | c.651T>G (p.Ile217Met) c.276T>G (p.Ile92Met) c.759T>G (p.Ile253Met) c.474T>G (p.Ile158Met) c.285-15963A>C (n.285-15963A>C) c.266-343T>G (n.266-343T>G) c.354T>G (p.Ile118Met) n.2290T>G c.643T>G c.526T>G | |
16 | g.72060321G>A | CA396677248 | HP,TXNL4B | c.652G>A (p.Ala218Thr) c.277G>A (p.Ala93Thr) c.760G>A (p.Ala254Thr) c.475G>A (p.Ala159Thr) c.285-15964C>T (n.285-15964C>T) c.266-342G>A (n.266-342G>A) c.355G>A (p.Ala119Thr) n.2291G>A c.644G>A c.527G>A | gnomAD v4 |
16 | g.72060321G>C | CA396677250 | HP,TXNL4B | c.652G>C (p.Ala218Pro) c.277G>C (p.Ala93Pro) c.760G>C (p.Ala254Pro) c.475G>C (p.Ala159Pro) c.285-15964C>G (n.285-15964C>G) c.266-342G>C (n.266-342G>C) c.355G>C (p.Ala119Pro) n.2291G>C c.644G>C c.527G>C | |
16 | g.72060321G>T | CA396677252 | HP,TXNL4B | c.652G>T (p.Ala218Ser) c.277G>T (p.Ala93Ser) c.760G>T (p.Ala254Ser) c.475G>T (p.Ala159Ser) c.285-15964C>A (n.285-15964C>A) c.266-342G>T (n.266-342G>T) c.355G>T (p.Ala119Ser) n.2291G>T c.644G>T c.527G>T | |
16 | g.72060322C>A | CA8159160 | HP,TXNL4B | c.653C>A (p.Ala218Asp) c.278C>A (p.Ala93Asp) c.761C>A (p.Ala254Asp) c.476C>A (p.Ala159Asp) c.285-15965G>T (n.285-15965G>T) c.266-341C>A (n.266-341C>A) c.356C>A (p.Ala119Asp) n.2292C>A c.645C>A c.528C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060322C= | CA2231555205 | HP,TXNL4B | c.653C= (p.Ala218=) c.278C= (p.Ala93=) c.761C= (p.Ala254=) c.476C= (p.Ala159=) c.285-15965G= (n.285-15965G=) c.266-341C= (n.266-341C=) c.356C= (p.Ala119=) n.2292C= c.645C= c.528C= | |
16 | g.72060322C>G | CA396677253 | HP,TXNL4B | c.653C>G (p.Ala218Gly) c.278C>G (p.Ala93Gly) c.761C>G (p.Ala254Gly) c.476C>G (p.Ala159Gly) c.285-15965G>C (n.285-15965G>C) c.266-341C>G (n.266-341C>G) c.356C>G (p.Ala119Gly) n.2292C>G c.645C>G c.528C>G | |
16 | g.72060322C>T | CA8159159 | HP,TXNL4B | c.653C>T (p.Ala218Val) c.278C>T (p.Ala93Val) c.761C>T (p.Ala254Val) c.476C>T (p.Ala159Val) c.285-15965G>A (n.285-15965G>A) c.266-341C>T (n.266-341C>T) c.356C>T (p.Ala119Val) n.2292C>T c.645C>T c.528C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |