Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37075109_37075118delinsGGGTTCCCCC | CA2404171234 | TMPRSS6 | c.1342+17_1342+26delinsGGGGGAACCC (n.1342+17_1342+26delinsGGGGGAACCC) c.1369+17_1369+26delinsGGGGGAACCC (n.1369+17_1369+26delinsGGGGGAACCC) c.910+17_910+26delinsGGGGGAACCC (n.910+17_910+26delinsGGGGGAACCC) | |
22 | g.37075112_37075120del | CA752942979 | TMPRSS6 | c.1342+17_1342+25del (n.1342+17_1342+25del) c.1369+17_1369+25del (n.1369+17_1369+25del) c.910+17_910+25del (n.910+17_910+25del) | dbSNP gnomAD v4 |
22 | g.37075114C>A | CA2656484633 | TMPRSS6 | c.1342+21G>T (n.1342+21G>T) c.1369+21G>T (n.1369+21G>T) c.910+21G>T (n.910+21G>T) | gnomAD v4 |
22 | g.37075114C= | CA2404171238 | TMPRSS6 | c.1342+21G= (n.1342+21G=) c.1369+21G= (n.1369+21G=) c.910+21G= (n.910+21G=) | |
22 | g.37075114C>G | CA10215649 | TMPRSS6 | c.1342+21G>C (n.1342+21G>C) c.1369+21G>C (n.1369+21G>C) c.910+21G>C (n.910+21G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075114C>T | CA10215650 | TMPRSS6 | c.1342+21G>A (n.1342+21G>A) c.1369+21G>A (n.1369+21G>A) c.910+21G>A (n.910+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075118dup | CA10215648 | TMPRSS6 | c.1342+21dup (n.1342+21dup) c.1369+21dup (n.1369+21dup) c.910+21dup (n.910+21dup) | dbSNP ExAC gnomAD v2 |
22 | g.37075118del | CA2737858217 | TMPRSS6 | c.1342+21del (n.1342+21del) c.1369+21del (n.1369+21del) c.910+21del (n.910+21del) | dbSNP |
22 | g.37075115C>A | CA2404171239 | TMPRSS6 | c.1342+20G>T (n.1342+20G>T) c.1369+20G>T (n.1369+20G>T) c.910+20G>T (n.910+20G>T) | dbSNP |
22 | g.37075115C= | CA2404171240 | TMPRSS6 | c.1342+20G= (n.1342+20G=) c.1369+20G= (n.1369+20G=) c.910+20G= (n.910+20G=) | |
22 | g.37075117C>T | CA2656484635 | TMPRSS6 | c.1342+18G>A (n.1342+18G>A) c.1369+18G>A (n.1369+18G>A) c.910+18G>A (n.910+18G>A) | gnomAD v4 |
22 | g.37075118C= | CA2404171241 | TMPRSS6 | c.1342+17G= (n.1342+17G=) c.1369+17G= (n.1369+17G=) c.910+17G= (n.910+17G=) | |
22 | g.37075118C>T | CA639177182 | TMPRSS6 | c.1342+17G>A (n.1342+17G>A) c.1369+17G>A (n.1369+17G>A) c.910+17G>A (n.910+17G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075119G>A | CA10215651 | TMPRSS6 | c.1342+16C>T (n.1342+16C>T) c.1369+16C>T (n.1369+16C>T) c.910+16C>T (n.910+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075119G>C | CA10215652 | TMPRSS6 | c.1342+16C>G (n.1342+16C>G) c.1369+16C>G (n.1369+16C>G) c.910+16C>G (n.910+16C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075119G= | CA2404171242 | TMPRSS6 | c.1342+16C= (n.1342+16C=) c.1369+16C= (n.1369+16C=) c.910+16C= (n.910+16C=) | |
22 | g.37075120G>C | CA10215653 | TMPRSS6 | c.1342+15C>G (n.1342+15C>G) c.1369+15C>G (n.1369+15C>G) c.910+15C>G (n.910+15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075120G= | CA2404171243 | TMPRSS6 | c.1342+15C= (n.1342+15C=) c.1369+15C= (n.1369+15C=) c.910+15C= (n.910+15C=) | |
22 | g.37075121C= | CA2404171244 | TMPRSS6 | c.1342+14G= (n.1342+14G=) c.1369+14G= (n.1369+14G=) c.910+14G= (n.910+14G=) | |
22 | g.37075121C>T | CA324050168 | TMPRSS6 | c.1342+14G>A (n.1342+14G>A) c.1369+14G>A (n.1369+14G>A) c.910+14G>A (n.910+14G>A) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075124C= | CA2404171245 | TMPRSS6 | c.1342+11G= (n.1342+11G=) c.1369+11G= (n.1369+11G=) c.910+11G= (n.910+11G=) | |
22 | g.37075124C>T | CA10215654 | TMPRSS6 | c.1342+11G>A (n.1342+11G>A) c.1369+11G>A (n.1369+11G>A) c.910+11G>A (n.910+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075126del | CA2656484639 | TMPRSS6 | c.1342+11del (n.1342+11del) c.1369+11del (n.1369+11del) c.910+11del (n.910+11del) | gnomAD v4 |
22 | g.37075125C= | CA2404171246 | TMPRSS6 | c.1342+10G= (n.1342+10G=) c.1369+10G= (n.1369+10G=) c.910+10G= (n.910+10G=) | |
22 | g.37075125C>T | CA639177183 | TMPRSS6 | c.1342+10G>A (n.1342+10G>A) c.1369+10G>A (n.1369+10G>A) c.910+10G>A (n.910+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075126C>A | CA2656484640 | TMPRSS6 | c.1342+9G>T (n.1342+9G>T) c.1369+9G>T (n.1369+9G>T) c.910+9G>T (n.910+9G>T) | gnomAD v4 |
22 | g.37075126C= | CA2404171247 | TMPRSS6 | c.1342+9G= (n.1342+9G=) c.1369+9G= (n.1369+9G=) c.910+9G= (n.910+9G=) | |
22 | g.37075126_37075127insGTAT | CA2404171248 | TMPRSS6 | c.1342+8_1342+9insATAC (n.1342+8_1342+9insATAC) c.1369+8_1369+9insATAC (n.1369+8_1369+9insATAC) c.910+8_910+9insATAC (n.910+8_910+9insATAC) | dbSNP |
22 | g.37075127A= | CA2404171249 | TMPRSS6 | c.1342+8T= (n.1342+8T=) c.1369+8T= (n.1369+8T=) c.910+8T= (n.910+8T=) | |
22 | g.37075127A>C | CA2656484641 | TMPRSS6 | c.1342+8T>G (n.1342+8T>G) c.1369+8T>G (n.1369+8T>G) c.910+8T>G (n.910+8T>G) | gnomAD v4 |
22 | g.37075127A>G | CA10215655 | TMPRSS6 | c.1342+8T>C (n.1342+8T>C) c.1369+8T>C (n.1369+8T>C) c.910+8T>C (n.910+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075131_37075134del | CA2656484642 | TMPRSS6 | c.1342+3_1342+6del (n.1342+3_1342+6del) c.1369+3_1369+6del (n.1369+3_1369+6del) c.910+3_910+6del (n.910+3_910+6del) | gnomAD v4 |
22 | g.37075130C= | CA2404171250 | TMPRSS6 | c.1342+5G= (n.1342+5G=) c.1369+5G= (n.1369+5G=) c.910+5G= (n.910+5G=) | |
22 | g.37075130C>T | CA639177184 | TMPRSS6 | c.1342+5G>A (n.1342+5G>A) c.1369+5G>A (n.1369+5G>A) c.910+5G>A (n.910+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075131T>A | CA324050173 | TMPRSS6 | c.1342+4A>T (n.1342+4A>T) c.1369+4A>T (n.1369+4A>T) c.910+4A>T (n.910+4A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075131T= | CA2404171251 | TMPRSS6 | c.1342+4A= (n.1342+4A=) c.1369+4A= (n.1369+4A=) c.910+4A= (n.910+4A=) | |
22 | g.37075132C>T | CA2656484644 | TMPRSS6 | c.1342+3G>A (n.1342+3G>A) c.1369+3G>A (n.1369+3G>A) c.910+3G>A (n.910+3G>A) | gnomAD v4 |
22 | g.37075133A>C | CA411421771 | TMPRSS6 | c.1342+2T>G (n.1342+2T>G) c.1369+2T>G (n.1369+2T>G) c.910+2T>G (n.910+2T>G) | gnomAD v4 |
22 | g.37075133A>G | CA411421772 | TMPRSS6 | c.1342+2T>C (n.1342+2T>C) c.1369+2T>C (n.1369+2T>C) c.910+2T>C (n.910+2T>C) | |
22 | g.37075133A>T | CA411421773 | TMPRSS6 | c.1342+2T>A (n.1342+2T>A) c.1369+2T>A (n.1369+2T>A) c.910+2T>A (n.910+2T>A) | |
22 | g.37075133dup | CA2656484646 | TMPRSS6 | c.1342+2dup (n.1342+2dup) c.1369+2dup (n.1369+2dup) c.910+2dup (n.910+2dup) | gnomAD v4 |
22 | g.37075134C>A | CA411421775 | TMPRSS6 | c.1342+1G>T (n.1342+1G>T) c.1369+1G>T (n.1369+1G>T) c.910+1G>T (n.910+1G>T) | |
22 | g.37075134C= | CA2404171252 | TMPRSS6 | c.1342+1G= (n.1342+1G=) c.1369+1G= (n.1369+1G=) c.910+1G= (n.910+1G=) | |
22 | g.37075134C>G | CA411421776 | TMPRSS6 | c.1342+1G>C (n.1342+1G>C) c.1369+1G>C (n.1369+1G>C) c.910+1G>C (n.910+1G>C) | |
22 | g.37075134C>T | CA324050174 | TMPRSS6 | c.1342+1G>A (n.1342+1G>A) c.1369+1G>A (n.1369+1G>A) c.910+1G>A (n.910+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075135G>A | CA411421787 | TMPRSS6 | c.1342C>T (p.Pro448Ser) c.1369C>T (p.Pro457Ser) c.910C>T (p.Pro304Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
22 | g.37075135G>C | CA411421780 | TMPRSS6 | c.1342C>G (p.Pro448Ala) c.1369C>G (p.Pro457Ala) c.910C>G (p.Pro304Ala) | |
22 | g.37075135G= | CA2404171253 | TMPRSS6 | c.1342C= (p.Pro448=) c.1369C= (p.Pro457=) c.910C= (p.Pro304=) | |
22 | g.37075135G>T | CA411421784 | TMPRSS6 | c.1342C>A (p.Pro448Thr) c.1369C>A (p.Pro457Thr) c.910C>A (p.Pro304Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075136G>A | CA514482482 | TMPRSS6 | c.1341C>T (p.Asp447=) c.1368C>T (p.Asp456=) c.909C>T (p.Asp303=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075136G>C | CA411421788 | TMPRSS6 | c.1341C>G (p.Asp447Glu) c.1368C>G (p.Asp456Glu) c.909C>G (p.Asp303Glu) | |
22 | g.37075136G= | CA2404171254 | TMPRSS6 | c.1341C= (p.Asp447=) c.1368C= (p.Asp456=) c.909C= (p.Asp303=) | |
22 | g.37075136G>T | CA411421790 | TMPRSS6 | c.1341C>A (p.Asp447Glu) c.1368C>A (p.Asp456Glu) c.909C>A (p.Asp303Glu) | |
22 | g.37075137T>A | CA411421792 | TMPRSS6 | c.1340A>T (p.Asp447Val) c.1367A>T (p.Asp456Val) c.908A>T (p.Asp303Val) | |
22 | g.37075137T>C | CA411421793 | TMPRSS6 | c.1340A>G (p.Asp447Gly) c.1367A>G (p.Asp456Gly) c.908A>G (p.Asp303Gly) | |
22 | g.37075137T>G | CA411421795 | TMPRSS6 | c.1340A>C (p.Asp447Ala) c.1367A>C (p.Asp456Ala) c.908A>C (p.Asp303Ala) | |
22 | g.37075138C>A | CA411421797 | TMPRSS6 | c.1339G>T (p.Asp447Tyr) c.1366G>T (p.Asp456Tyr) c.907G>T (p.Asp303Tyr) | |
22 | g.37075138C>G | CA411421798 | TMPRSS6 | c.1339G>C (p.Asp447His) c.1366G>C (p.Asp456His) c.907G>C (p.Asp303His) | |
22 | g.37075138C>T | CA411421800 | TMPRSS6 | c.1339G>A (p.Asp447Asn) c.1366G>A (p.Asp456Asn) c.907G>A (p.Asp303Asn) | |
22 | g.37075139C>A | CA514482484 | TMPRSS6 | c.1338G>T (p.Ser446=) c.1365G>T (p.Ser455=) c.906G>T (p.Ser302=) | |
22 | g.37075139C= | CA2404171255 | TMPRSS6 | c.1338G= (p.Ser446=) c.1365G= (p.Ser455=) c.906G= (p.Ser302=) | |
22 | g.37075139C>G | CA10215657 | TMPRSS6 | c.1338G>C (p.Ser446=) c.1365G>C (p.Ser455=) c.906G>C (p.Ser302=) | dbSNP ExAC gnomAD v4 |
22 | g.37075139C>T | CA10215656 | TMPRSS6 | c.1338G>A (p.Ser446=) c.1365G>A (p.Ser455=) c.906G>A (p.Ser302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075140G>A | CA10215659 | TMPRSS6 | c.1337C>T (p.Ser446Leu) c.1364C>T (p.Ser455Leu) c.905C>T (p.Ser302Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075140G>C | CA10215658 | TMPRSS6 | c.1337C>G (p.Ser446Trp) c.1364C>G (p.Ser455Trp) c.905C>G (p.Ser302Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075140G= | CA2404171256 | TMPRSS6 | c.1337C= (p.Ser446=) c.1364C= (p.Ser455=) c.905C= (p.Ser302=) | |
22 | g.37075140G>T | CA411421806 | TMPRSS6 | c.1337C>A (p.Ser446Ter) c.1364C>A (p.Ser455Ter) c.905C>A (p.Ser302Ter) | |
22 | g.37075141A>C | CA411421808 | TMPRSS6 | c.1336T>G (p.Ser446Ala) c.1363T>G (p.Ser455Ala) c.904T>G (p.Ser302Ala) | gnomAD v4 |
22 | g.37075141A>G | CA411421812 | TMPRSS6 | c.1336T>C (p.Ser446Pro) c.1363T>C (p.Ser455Pro) c.904T>C (p.Ser302Pro) | |
22 | g.37075141A>T | CA411421810 | TMPRSS6 | c.1336T>A (p.Ser446Thr) c.1363T>A (p.Ser455Thr) c.904T>A (p.Ser302Thr) | |
22 | g.37075142C>A | CA411421814 | TMPRSS6 | c.1335G>T (p.Gln445His) c.1362G>T (p.Gln454His) c.903G>T (p.Gln301His) | |
22 | g.37075142C>G | CA411421816 | TMPRSS6 | c.1335G>C (p.Gln445His) c.1362G>C (p.Gln454His) c.903G>C (p.Gln301His) | gnomAD v4 |
22 | g.37075142C>T | CA514482487 | TMPRSS6 | c.1335G>A (p.Gln445=) c.1362G>A (p.Gln454=) c.903G>A (p.Gln301=) | |
22 | g.37075143T>A | CA411421819 | TMPRSS6 | c.1334A>T (p.Gln445Leu) c.1361A>T (p.Gln454Leu) c.902A>T (p.Gln301Leu) | |
22 | g.37075143T>C | CA411421820 | TMPRSS6 | c.1334A>G (p.Gln445Arg) c.1361A>G (p.Gln454Arg) c.902A>G (p.Gln301Arg) | |
22 | g.37075143T>G | CA411421821 | TMPRSS6 | c.1334A>C (p.Gln445Pro) c.1361A>C (p.Gln454Pro) c.902A>C (p.Gln301Pro) | |
22 | g.37075144G>A | CA411421824 | TMPRSS6 | c.1333C>T (p.Gln445Ter) c.1360C>T (p.Gln454Ter) c.901C>T (p.Gln301Ter) | |
22 | g.37075144G>C | CA411421826 | TMPRSS6 | c.1333C>G (p.Gln445Glu) c.1360C>G (p.Gln454Glu) c.901C>G (p.Gln301Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075144G= | CA2404171257 | TMPRSS6 | c.1333C= (p.Gln445=) c.1360C= (p.Gln454=) c.901C= (p.Gln301=) | |
22 | g.37075144G>T | CA411421827 | TMPRSS6 | c.1333C>A (p.Gln445Lys) c.1360C>A (p.Gln454Lys) c.901C>A (p.Gln301Lys) | |
22 | g.37075145G>A | CA514482490 | TMPRSS6 | c.1332C>T (p.Asn444=) c.1359C>T (p.Asn453=) c.900C>T (p.Asn300=) | |
22 | g.37075145G>C | CA411421831 | TMPRSS6 | c.1332C>G (p.Asn444Lys) c.1359C>G (p.Asn453Lys) c.900C>G (p.Asn300Lys) | |
22 | g.37075145G>T | CA411421832 | TMPRSS6 | c.1332C>A (p.Asn444Lys) c.1359C>A (p.Asn453Lys) c.900C>A (p.Asn300Lys) | |
22 | g.37075146T>A | CA411421835 | TMPRSS6 | c.1331A>T (p.Asn444Ile) c.1358A>T (p.Asn453Ile) c.899A>T (p.Asn300Ile) | |
22 | g.37075146T>C | CA411421837 | TMPRSS6 | c.1331A>G (p.Asn444Ser) c.1358A>G (p.Asn453Ser) c.899A>G (p.Asn300Ser) | gnomAD v4 |
22 | g.37075146T>G | CA411421838 | TMPRSS6 | c.1331A>C (p.Asn444Thr) c.1358A>C (p.Asn453Thr) c.899A>C (p.Asn300Thr) | |
22 | g.37075146_37075147insCCCTCCAGACACTCGGCTAGGCCTGCCCTACCTTCCTGGCACTGCTCTTCGTCGCTGCCGTTGAGACAA | CA2656484667 | TMPRSS6 | c.1330_1331insTTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCCTAGCCGAGTGTCTGGAGGG (p.Asn444IlefsTer18) c.1357_1358insTTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCCTAGCCGAGTGTCTGGAGGG (p.Asn453IlefsTer18) c.898_899insTTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCCTAGCCGAGTGTCTGGAGGG (p.Asn300IlefsTer18) | gnomAD v4 |
22 | g.37075147T>A | CA411421840 | TMPRSS6 | c.1330A>T (p.Asn444Tyr) c.1357A>T (p.Asn453Tyr) c.898A>T (p.Asn300Tyr) | |
22 | g.37075147T>C | CA411421845 | TMPRSS6 | c.1330A>G (p.Asn444Asp) c.1357A>G (p.Asn453Asp) c.898A>G (p.Asn300Asp) | |
22 | g.37075147T>G | CA411421842 | TMPRSS6 | c.1330A>C (p.Asn444His) c.1357A>C (p.Asn453His) c.898A>C (p.Asn300His) | |
22 | g.37075148G>A | CA324050179 | TMPRSS6 | c.1329C>T (p.Tyr443=) c.1356C>T (p.Tyr452=) c.897C>T (p.Tyr299=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075148G>C | CA411421847 | TMPRSS6 | c.1329C>G (p.Tyr443Ter) c.1356C>G (p.Tyr452Ter) c.897C>G (p.Tyr299Ter) | |
22 | g.37075148G= | CA2404171258 | TMPRSS6 | c.1329C= (p.Tyr443=) c.1356C= (p.Tyr452=) c.897C= (p.Tyr299=) | |
22 | g.37075148G>T | CA411421849 | TMPRSS6 | c.1329C>A (p.Tyr443Ter) c.1356C>A (p.Tyr452Ter) c.897C>A (p.Tyr299Ter) | |
22 | g.37075149T>A | CA411421851 | TMPRSS6 | c.1328A>T (p.Tyr443Phe) c.1355A>T (p.Tyr452Phe) c.896A>T (p.Tyr299Phe) | |
22 | g.37075149T>C | CA411421853 | TMPRSS6 | c.1328A>G (p.Tyr443Cys) c.1355A>G (p.Tyr452Cys) c.896A>G (p.Tyr299Cys) | |
22 | g.37075149T>G | CA411421854 | TMPRSS6 | c.1328A>C (p.Tyr443Ser) c.1355A>C (p.Tyr452Ser) c.896A>C (p.Tyr299Ser) | |
22 | g.37075150A= | CA2404171259 | TMPRSS6 | c.1327T= (p.Tyr443=) c.1354T= (p.Tyr452=) c.895T= (p.Tyr299=) | |
22 | g.37075150A>C | CA411421857 | TMPRSS6 | c.1327T>G (p.Tyr443Asp) c.1354T>G (p.Tyr452Asp) c.895T>G (p.Tyr299Asp) | |
22 | g.37075150A>G | CA411421859 | TMPRSS6 | c.1327T>C (p.Tyr443His) c.1354T>C (p.Tyr452His) c.895T>C (p.Tyr299His) | dbSNP |
22 | g.37075150A>T | CA411421861 | TMPRSS6 | c.1327T>A (p.Tyr443Asn) c.1354T>A (p.Tyr452Asn) c.895T>A (p.Tyr299Asn) | |
22 | g.37075151C>A | CA10215660 | TMPRSS6 | c.1326G>T (p.Leu442Phe) c.1353G>T (p.Leu451Phe) c.894G>T (p.Leu298Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075151C= | CA2404171260 | TMPRSS6 | c.1326G= (p.Leu442=) c.1353G= (p.Leu451=) c.894G= (p.Leu298=) | |
22 | g.37075151C>G | CA411421863 | TMPRSS6 | c.1326G>C (p.Leu442Phe) c.1353G>C (p.Leu451Phe) c.894G>C (p.Leu298Phe) | dbSNP |
22 | g.37075151C>T | CA514482507 | TMPRSS6 | c.1326G>A (p.Leu442=) c.1353G>A (p.Leu451=) c.894G>A (p.Leu298=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075152A= | CA2404171261 | TMPRSS6 | c.1325T= (p.Leu442=) c.1352T= (p.Leu451=) c.893T= (p.Leu298=) | |
22 | g.37075152A>C | CA411421869 | TMPRSS6 | c.1325T>G (p.Leu442Trp) c.1352T>G (p.Leu451Trp) c.893T>G (p.Leu298Trp) | dbSNP |
22 | g.37075152A>G | CA411421867 | TMPRSS6 | c.1325T>C (p.Leu442Ser) c.1352T>C (p.Leu451Ser) c.893T>C (p.Leu298Ser) | |
22 | g.37075152A>T | CA411421865 | TMPRSS6 | c.1325T>A (p.Leu442Ter) c.1352T>A (p.Leu451Ter) c.893T>A (p.Leu298Ter) | |
22 | g.37075153A>C | CA411421871 | TMPRSS6 | c.1324T>G (p.Leu442Val) c.1351T>G (p.Leu451Val) c.892T>G (p.Leu298Val) | |
22 | g.37075153A>G | CA514482509 | TMPRSS6 | c.1324T>C (p.Leu442=) c.1351T>C (p.Leu451=) c.892T>C (p.Leu298=) | |
22 | g.37075153A>T | CA411421872 | TMPRSS6 | c.1324T>A (p.Leu442Met) c.1351T>A (p.Leu451Met) c.892T>A (p.Leu298Met) | |
22 | g.37075154G>A | CA514482510 | TMPRSS6 | c.1323C>T (p.Gly441=) c.1350C>T (p.Gly450=) c.891C>T (p.Gly297=) | |
22 | g.37075154G>C | CA514482511 | TMPRSS6 | c.1323C>G (p.Gly441=) c.1350C>G (p.Gly450=) c.891C>G (p.Gly297=) | |
22 | g.37075154G>T | CA514482512 | TMPRSS6 | c.1323C>A (p.Gly441=) c.1350C>A (p.Gly450=) c.891C>A (p.Gly297=) | |
22 | g.37075155C>A | CA411421874 | TMPRSS6 | c.1322G>T (p.Gly441Val) c.1349G>T (p.Gly450Val) c.890G>T (p.Gly297Val) | |
22 | g.37075155C>G | CA411421876 | TMPRSS6 | c.1322G>C (p.Gly441Ala) c.1349G>C (p.Gly450Ala) c.890G>C (p.Gly297Ala) | |
22 | g.37075155C>T | CA411421877 | TMPRSS6 | c.1322G>A (p.Gly441Asp) c.1349G>A (p.Gly450Asp) c.890G>A (p.Gly297Asp) | |
22 | g.37075156C>A | CA411421880 | TMPRSS6 | c.1321G>T (p.Gly441Cys) c.1348G>T (p.Gly450Cys) c.889G>T (p.Gly297Cys) | |
22 | g.37075156C>G | CA411421881 | TMPRSS6 | c.1321G>C (p.Gly441Arg) c.1348G>C (p.Gly450Arg) c.889G>C (p.Gly297Arg) | |
22 | g.37075156C>T | CA411421883 | TMPRSS6 | c.1321G>A (p.Gly441Ser) c.1348G>A (p.Gly450Ser) c.889G>A (p.Gly297Ser) | |
22 | g.37075157A>C | CA411421884 | TMPRSS6 | c.1320T>G (p.Tyr440Ter) c.1347T>G (p.Tyr449Ter) c.888T>G (p.Tyr296Ter) | |
22 | g.37075157A>G | CA514482514 | TMPRSS6 | c.1320T>C (p.Tyr440=) c.1347T>C (p.Tyr449=) c.888T>C (p.Tyr296=) | |
22 | g.37075157A>T | CA411421886 | TMPRSS6 | c.1320T>A (p.Tyr440Ter) c.1347T>A (p.Tyr449Ter) c.888T>A (p.Tyr296Ter) | |
22 | g.37075158T>A | CA411421888 | TMPRSS6 | c.1319A>T (p.Tyr440Phe) c.1346A>T (p.Tyr449Phe) c.887A>T (p.Tyr296Phe) | |
22 | g.37075158T>C | CA411421890 | TMPRSS6 | c.1319A>G (p.Tyr440Cys) c.1346A>G (p.Tyr449Cys) c.887A>G (p.Tyr296Cys) | |
22 | g.37075158T>G | CA411421892 | TMPRSS6 | c.1319A>C (p.Tyr440Ser) c.1346A>C (p.Tyr449Ser) c.887A>C (p.Tyr296Ser) | gnomAD v4 |
22 | g.37075159A>C | CA411421895 | TMPRSS6 | c.1318T>G (p.Tyr440Asp) c.1345T>G (p.Tyr449Asp) c.886T>G (p.Tyr296Asp) | |
22 | g.37075159A>G | CA411421896 | TMPRSS6 | c.1318T>C (p.Tyr440His) c.1345T>C (p.Tyr449His) c.886T>C (p.Tyr296His) | gnomAD v4 |
22 | g.37075159A>T | CA411421898 | TMPRSS6 | c.1318T>A (p.Tyr440Asn) c.1345T>A (p.Tyr449Asn) c.886T>A (p.Tyr296Asn) | |
22 | g.37075160G>A | CA514482517 | TMPRSS6 | c.1317C>T (p.His439=) c.1344C>T (p.His448=) c.885C>T (p.His295=) | gnomAD v4 |
22 | g.37075160G>C | CA411421900 | TMPRSS6 | c.1317C>G (p.His439Gln) c.1344C>G (p.His448Gln) c.885C>G (p.His295Gln) | |
22 | g.37075160G>T | CA411421902 | TMPRSS6 | c.1317C>A (p.His439Gln) c.1344C>A (p.His448Gln) c.885C>A (p.His295Gln) | |
22 | g.37075161T>A | CA411421904 | TMPRSS6 | c.1316A>T (p.His439Leu) c.1343A>T (p.His448Leu) c.884A>T (p.His295Leu) | |
22 | g.37075161T>C | CA10215661 | TMPRSS6 | c.1316A>G (p.His439Arg) c.1343A>G (p.His448Arg) c.884A>G (p.His295Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075161T>G | CA411421907 | TMPRSS6 | c.1316A>C (p.His439Pro) c.1343A>C (p.His448Pro) c.884A>C (p.His295Pro) | gnomAD v4 |
22 | g.37075161T= | CA2404171262 | TMPRSS6 | c.1316A= (p.His439=) c.1343A= (p.His448=) c.884A= (p.His295=) | |
22 | g.37075161_37075167delinsTGCACCC | CA2404171263 | TMPRSS6 | c.1310_1316delinsGGGTGCA (p.Arg437=) c.1337_1343delinsGGGTGCA (p.Arg446=) c.878_884delinsGGGTGCA (p.Arg293=) | |
22 | g.37075162G>A | CA411421910 | TMPRSS6 | c.1315C>T (p.His439Tyr) c.1342C>T (p.His448Tyr) c.883C>T (p.His295Tyr) | |
22 | g.37075162G>C | CA411421911 | TMPRSS6 | c.1315C>G (p.His439Asp) c.1342C>G (p.His448Asp) c.883C>G (p.His295Asp) | |
22 | g.37075162G>T | CA411421913 | TMPRSS6 | c.1315C>A (p.His439Asn) c.1342C>A (p.His448Asn) c.883C>A (p.His295Asn) | |
22 | g.37075166_37075171del | CA1139667104 | TMPRSS6 | c.1310_1315del (p.Arg437_Val438del) c.1337_1342del (p.Arg446_Val447del) c.878_883del (p.Arg293_Val294del) | ClinVar dbSNP |
22 | g.37075163C>A | CA514482522 | TMPRSS6 | c.1314G>T (p.Val438=) c.1341G>T (p.Val447=) c.882G>T (p.Val294=) | dbSNP |
22 | g.37075163C= | CA2404171264 | TMPRSS6 | c.1314G= (p.Val438=) c.1341G= (p.Val447=) c.882G= (p.Val294=) | |
22 | g.37075163C>G | CA514482520 | TMPRSS6 | c.1314G>C (p.Val438=) c.1341G>C (p.Val447=) c.882G>C (p.Val294=) | |
22 | g.37075163C>T | CA10215662 | TMPRSS6 | c.1314G>A (p.Val438=) c.1341G>A (p.Val447=) c.882G>A (p.Val294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075164A>C | CA411421916 | TMPRSS6 | c.1313T>G (p.Val438Gly) c.1340T>G (p.Val447Gly) c.881T>G (p.Val294Gly) | |
22 | g.37075164A>G | CA411421918 | TMPRSS6 | c.1313T>C (p.Val438Ala) c.1340T>C (p.Val447Ala) c.881T>C (p.Val294Ala) | |
22 | g.37075164A>T | CA411421920 | TMPRSS6 | c.1313T>A (p.Val438Glu) c.1340T>A (p.Val447Glu) c.881T>A (p.Val294Glu) | |
22 | g.37075165C>A | CA411421922 | TMPRSS6 | c.1312G>T (p.Val438Leu) c.1339G>T (p.Val447Leu) c.880G>T (p.Val294Leu) | |
22 | g.37075165C= | CA2404171265 | TMPRSS6 | c.1312G= (p.Val438=) c.1339G= (p.Val447=) c.880G= (p.Val294=) | |
22 | g.37075165C>G | CA411421924 | TMPRSS6 | c.1312G>C (p.Val438Leu) c.1339G>C (p.Val447Leu) c.880G>C (p.Val294Leu) | |
22 | g.37075165C>T | CA411421926 | TMPRSS6 | c.1312G>A (p.Val438Met) c.1339G>A (p.Val447Met) c.880G>A (p.Val294Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075167dup | CA2741716814 | TMPRSS6 | c.1312dup (p.Val438GlyfsTer29) c.1339dup (p.Val447GlyfsTer29) c.880dup (p.Val294GlyfsTer29) | |
22 | g.37075166C>A | CA514482525 | TMPRSS6 | c.1311G>T (p.Arg437=) c.1338G>T (p.Arg446=) c.879G>T (p.Arg293=) | |
22 | g.37075166C>G | CA514482526 | TMPRSS6 | c.1311G>C (p.Arg437=) c.1338G>C (p.Arg446=) c.879G>C (p.Arg293=) | |
22 | g.37075166C>T | CA514482527 | TMPRSS6 | c.1311G>A (p.Arg437=) c.1338G>A (p.Arg446=) c.879G>A (p.Arg293=) | |
22 | g.37075167C>A | CA411421928 | TMPRSS6 | c.1310G>T (p.Arg437Leu) c.1337G>T (p.Arg446Leu) c.878G>T (p.Arg293Leu) | |
22 | g.37075167C= | CA2404171266 | TMPRSS6 | c.1310G= (p.Arg437=) c.1337G= (p.Arg446=) c.878G= (p.Arg293=) | |
22 | g.37075167C>G | CA411421931 | TMPRSS6 | c.1310G>C (p.Arg437Pro) c.1337G>C (p.Arg446Pro) c.878G>C (p.Arg293Pro) | |
22 | g.37075167C>T | CA10215663 | TMPRSS6 | c.1310G>A (p.Arg437Gln) c.1337G>A (p.Arg446Gln) c.878G>A (p.Arg293Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075168G>A | CA10215664 | TMPRSS6 | c.1309C>T (p.Arg437Trp) c.1336C>T (p.Arg446Trp) c.877C>T (p.Arg293Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075168G>C | CA411421933 | TMPRSS6 | c.1309C>G (p.Arg437Gly) c.1336C>G (p.Arg446Gly) c.877C>G (p.Arg293Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075168G= | CA2404171267 | TMPRSS6 | c.1309C= (p.Arg437=) c.1336C= (p.Arg446=) c.877C= (p.Arg293=) | |
22 | g.37075168G>T | CA514482530 | TMPRSS6 | c.1309C>A (p.Arg437=) c.1336C>A (p.Arg446=) c.877C>A (p.Arg293=) | |
22 | g.37075169C>A | CA514482531 | TMPRSS6 | c.1308G>T (p.Val436=) c.1335G>T (p.Val445=) c.876G>T (p.Val292=) | |
22 | g.37075169C>G | CA514482532 | TMPRSS6 | c.1308G>C (p.Val436=) c.1335G>C (p.Val445=) c.876G>C (p.Val292=) | |
22 | g.37075169C>T | CA514482534 | TMPRSS6 | c.1308G>A (p.Val436=) c.1335G>A (p.Val445=) c.876G>A (p.Val292=) | |
22 | g.37075170A>C | CA411421936 | TMPRSS6 | c.1307T>G (p.Val436Gly) c.1334T>G (p.Val445Gly) c.875T>G (p.Val292Gly) | |
22 | g.37075170A>G | CA411421937 | TMPRSS6 | c.1307T>C (p.Val436Ala) c.1334T>C (p.Val445Ala) c.875T>C (p.Val292Ala) | |
22 | g.37075170A>T | CA411421939 | TMPRSS6 | c.1307T>A (p.Val436Glu) c.1334T>A (p.Val445Glu) c.875T>A (p.Val292Glu) | |
22 | g.37075171C>A | CA411421943 | TMPRSS6 | c.1306G>T (p.Val436Leu) c.1333G>T (p.Val445Leu) c.874G>T (p.Val292Leu) | dbSNP |
22 | g.37075171C= | CA2404171268 | TMPRSS6 | c.1306G= (p.Val436=) c.1333G= (p.Val445=) c.874G= (p.Val292=) | |
22 | g.37075171C>G | CA411421942 | TMPRSS6 | c.1306G>C (p.Val436Leu) c.1333G>C (p.Val445Leu) c.874G>C (p.Val292Leu) | gnomAD v4 |
22 | g.37075171C>T | CA10215665 | TMPRSS6 | c.1306G>A (p.Val436Met) c.1333G>A (p.Val445Met) c.874G>A (p.Val292Met) | dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.37075172A>C | CA514482538 | TMPRSS6 | c.1305T>G (p.Gly435=) c.1332T>G (p.Gly444=) c.873T>G (p.Gly291=) | |
22 | g.37075172A>G | CA514482540 | TMPRSS6 | c.1305T>C (p.Gly435=) c.1332T>C (p.Gly444=) c.873T>C (p.Gly291=) | |
22 | g.37075172A>T | CA514482542 | TMPRSS6 | c.1305T>A (p.Gly435=) c.1332T>A (p.Gly444=) c.873T>A (p.Gly291=) | |
22 | g.37075173C>A | CA411421945 | TMPRSS6 | c.1304G>T (p.Gly435Val) c.1331G>T (p.Gly444Val) c.872G>T (p.Gly291Val) | |
22 | g.37075173C= | CA2404171269 | TMPRSS6 | c.1304G= (p.Gly435=) c.1331G= (p.Gly444=) c.872G= (p.Gly291=) | |
22 | g.37075173C>G | CA324050216 | TMPRSS6 | c.1304G>C (p.Gly435Ala) c.1331G>C (p.Gly444Ala) c.872G>C (p.Gly291Ala) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075173C>T | CA411421948 | TMPRSS6 | c.1304G>A (p.Gly435Asp) c.1331G>A (p.Gly444Asp) c.872G>A (p.Gly291Asp) | |
22 | g.37075174C>A | CA411421950 | TMPRSS6 | c.1303G>T (p.Gly435Cys) c.1330G>T (p.Gly444Cys) c.871G>T (p.Gly291Cys) | |
22 | g.37075174C= | CA2404171270 | TMPRSS6 | c.1303G= (p.Gly435=) c.1330G= (p.Gly444=) c.871G= (p.Gly291=) | |
22 | g.37075174C>G | CA411421952 | TMPRSS6 | c.1303G>C (p.Gly435Arg) c.1330G>C (p.Gly444Arg) c.871G>C (p.Gly291Arg) | |
22 | g.37075174C>T | CA10215666 | TMPRSS6 | c.1303G>A (p.Gly435Ser) c.1330G>A (p.Gly444Ser) c.871G>A (p.Gly291Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075175G>A | CA514482544 | TMPRSS6 | c.1302C>T (p.Pro434=) c.1329C>T (p.Pro443=) c.870C>T (p.Pro290=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075175G>C | CA514482545 | TMPRSS6 | c.1302C>G (p.Pro434=) c.1329C>G (p.Pro443=) c.870C>G (p.Pro290=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075175G= | CA2404171271 | TMPRSS6 | c.1302C= (p.Pro434=) c.1329C= (p.Pro443=) c.870C= (p.Pro290=) | |
22 | g.37075175G>T | CA514482546 | TMPRSS6 | c.1302C>A (p.Pro434=) c.1329C>A (p.Pro443=) c.870C>A (p.Pro290=) | gnomAD v4 |
22 | g.37075176G>A | CA411421953 | TMPRSS6 | c.1301C>T (p.Pro434Leu) c.1328C>T (p.Pro443Leu) c.869C>T (p.Pro290Leu) | |
22 | g.37075176G>C | CA411421955 | TMPRSS6 | c.1301C>G (p.Pro434Arg) c.1328C>G (p.Pro443Arg) c.869C>G (p.Pro290Arg) | |
22 | g.37075176G>T | CA411421954 | TMPRSS6 | c.1301C>A (p.Pro434His) c.1328C>A (p.Pro443His) c.869C>A (p.Pro290His) | |
22 | g.37075177G>A | CA411421956 | TMPRSS6 | c.1300C>T (p.Pro434Ser) c.1327C>T (p.Pro443Ser) c.868C>T (p.Pro290Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075177G>C | CA411421958 | TMPRSS6 | c.1300C>G (p.Pro434Ala) c.1327C>G (p.Pro443Ala) c.868C>G (p.Pro290Ala) | |
22 | g.37075177G= | CA2404171272 | TMPRSS6 | c.1300C= (p.Pro434=) c.1327C= (p.Pro443=) c.868C= (p.Pro290=) | |
22 | g.37075177G>T | CA411421959 | TMPRSS6 | c.1300C>A (p.Pro434Thr) c.1327C>A (p.Pro443Thr) c.868C>A (p.Pro290Thr) | |
22 | g.37075178C>A | CA514482552 | TMPRSS6 | c.1299G>T (p.Gly433=) c.1326G>T (p.Gly442=) c.867G>T (p.Gly289=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075178C= | CA2404171273 | TMPRSS6 | c.1299G= (p.Gly433=) c.1326G= (p.Gly442=) c.867G= (p.Gly289=) | |
22 | g.37075178C>G | CA514482549 | TMPRSS6 | c.1299G>C (p.Gly433=) c.1326G>C (p.Gly442=) c.867G>C (p.Gly289=) | |
22 | g.37075178C>T | CA514482550 | TMPRSS6 | c.1299G>A (p.Gly433=) c.1326G>A (p.Gly442=) c.867G>A (p.Gly289=) | dbSNP |
22 | g.37075179C>A | CA411421961 | TMPRSS6 | c.1298G>T (p.Gly433Val) c.1325G>T (p.Gly442Val) c.866G>T (p.Gly289Val) | |
22 | g.37075179C= | CA2404171274 | TMPRSS6 | c.1298G= (p.Gly433=) c.1325G= (p.Gly442=) c.866G= (p.Gly289=) | |
22 | g.37075179C>G | CA411421963 | TMPRSS6 | c.1298G>C (p.Gly433Ala) c.1325G>C (p.Gly442Ala) c.866G>C (p.Gly289Ala) | |
22 | g.37075179C>T | CA324050228 | TMPRSS6 | c.1298G>A (p.Gly433Glu) c.1325G>A (p.Gly442Glu) c.866G>A (p.Gly289Glu) | dbSNP |
22 | g.37075180C>A | CA411421966 | TMPRSS6 | c.1297G>T (p.Gly433Trp) c.1324G>T (p.Gly442Trp) c.865G>T (p.Gly289Trp) | |
22 | g.37075180C= | CA2404171275 | TMPRSS6 | c.1297G= (p.Gly433=) c.1324G= (p.Gly442=) c.865G= (p.Gly289=) | |
22 | g.37075180C>G | CA411421967 | TMPRSS6 | c.1297G>C (p.Gly433Arg) c.1324G>C (p.Gly442Arg) c.865G>C (p.Gly289Arg) | |
22 | g.37075180C>T | CA114989 | TMPRSS6 | c.1297G>A (p.Gly433Arg) c.1324G>A (p.Gly442Arg) c.865G>A (p.Gly289Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075181G>A | CA10215667 | TMPRSS6 | c.1296C>T (p.Thr432=) c.1323C>T (p.Thr441=) c.864C>T (p.Thr288=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075181G>C | CA514482554 | TMPRSS6 | c.1296C>G (p.Thr432=) c.1323C>G (p.Thr441=) c.864C>G (p.Thr288=) | |
22 | g.37075181G= | CA2404171276 | TMPRSS6 | c.1296C= (p.Thr432=) c.1323C= (p.Thr441=) c.864C= (p.Thr288=) | |
22 | g.37075181G>T | CA514482555 | TMPRSS6 | c.1296C>A (p.Thr432=) c.1323C>A (p.Thr441=) c.864C>A (p.Thr288=) | |
22 | g.37075182G>A | CA411421972 | TMPRSS6 | c.1295C>T (p.Thr432Ile) c.1322C>T (p.Thr441Ile) c.863C>T (p.Thr288Ile) | |
22 | g.37075182G>C | CA411421975 | TMPRSS6 | c.1295C>G (p.Thr432Ser) c.1322C>G (p.Thr441Ser) c.863C>G (p.Thr288Ser) | |
22 | g.37075182G>T | CA411421973 | TMPRSS6 | c.1295C>A (p.Thr432Asn) c.1322C>A (p.Thr441Asn) c.863C>A (p.Thr288Asn) | |
22 | g.37075183T>A | CA411421978 | TMPRSS6 | c.1294A>T (p.Thr432Ser) c.1321A>T (p.Thr441Ser) c.862A>T (p.Thr288Ser) | |
22 | g.37075183T>C | CA411421981 | TMPRSS6 | c.1294A>G (p.Thr432Ala) c.1321A>G (p.Thr441Ala) c.862A>G (p.Thr288Ala) | |
22 | g.37075183T>G | CA411421979 | TMPRSS6 | c.1294A>C (p.Thr432Pro) c.1321A>C (p.Thr441Pro) c.862A>C (p.Thr288Pro) | gnomAD v4 |
22 | g.37075184G>A | CA514482559 | TMPRSS6 | c.1293C>T (p.Leu431=) c.1320C>T (p.Leu440=) c.861C>T (p.Leu287=) | |
22 | g.37075184G>C | CA514482560 | TMPRSS6 | c.1293C>G (p.Leu431=) c.1320C>G (p.Leu440=) c.861C>G (p.Leu287=) | |
22 | g.37075184G>T | CA514482561 | TMPRSS6 | c.1293C>A (p.Leu431=) c.1320C>A (p.Leu440=) c.861C>A (p.Leu287=) | |
22 | g.37075185A= | CA2404171277 | TMPRSS6 | c.1292T= (p.Leu431=) c.1319T= (p.Leu440=) c.860T= (p.Leu287=) | |
22 | g.37075185A>C | CA411421983 | TMPRSS6 | c.1292T>G (p.Leu431Arg) c.1319T>G (p.Leu440Arg) c.860T>G (p.Leu287Arg) | |
22 | g.37075185A>G | CA10215668 | TMPRSS6 | c.1292T>C (p.Leu431Pro) c.1319T>C (p.Leu440Pro) c.860T>C (p.Leu287Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075185A>T | CA411421985 | TMPRSS6 | c.1292T>A (p.Leu431His) c.1319T>A (p.Leu440His) c.860T>A (p.Leu287His) | |
22 | g.37075186G>A | CA10215670 | TMPRSS6 | c.1291C>T (p.Leu431Phe) c.1318C>T (p.Leu440Phe) c.859C>T (p.Leu287Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075186G>C | CA10215669 | TMPRSS6 | c.1291C>G (p.Leu431Val) c.1318C>G (p.Leu440Val) c.859C>G (p.Leu287Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075186G= | CA2404171278 | TMPRSS6 | c.1291C= (p.Leu431=) c.1318C= (p.Leu440=) c.859C= (p.Leu287=) | |
22 | g.37075186G>T | CA411421987 | TMPRSS6 | c.1291C>A (p.Leu431Ile) c.1318C>A (p.Leu440Ile) c.859C>A (p.Leu287Ile) | |
22 | g.37075187G>A | CA10215671 | TMPRSS6 | c.1290C>T (p.Ser430=) c.1317C>T (p.Ser439=) c.858C>T (p.Ser286=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075187G>C | CA514482563 | TMPRSS6 | c.1290C>G (p.Ser430=) c.1317C>G (p.Ser439=) c.858C>G (p.Ser286=) | |
22 | g.37075187G= | CA2404171279 | TMPRSS6 | c.1290C= (p.Ser430=) c.1317C= (p.Ser439=) c.858C= (p.Ser286=) | |
22 | g.37075187G>T | CA514482564 | TMPRSS6 | c.1290C>A (p.Ser430=) c.1317C>A (p.Ser439=) c.858C>A (p.Ser286=) | |
22 | g.37075187_37075188insTTGGGGCAGTCCTT | CA2656484732 | TMPRSS6 | c.1289_1290insAAGGACTGCCCCAA (p.Leu431ArgfsTer32) c.1316_1317insAAGGACTGCCCCAA (p.Leu440ArgfsTer32) c.857_858insAAGGACTGCCCCAA (p.Leu287ArgfsTer32) | gnomAD v4 |
22 | g.37075188G>A | CA411421989 | TMPRSS6 | c.1289C>T (p.Ser430Phe) c.1316C>T (p.Ser439Phe) c.857C>T (p.Ser286Phe) | |
22 | g.37075188G>C | CA411421990 | TMPRSS6 | c.1289C>G (p.Ser430Cys) c.1316C>G (p.Ser439Cys) c.857C>G (p.Ser286Cys) | |
22 | g.37075188G>T | CA411421992 | TMPRSS6 | c.1289C>A (p.Ser430Tyr) c.1316C>A (p.Ser439Tyr) c.857C>A (p.Ser286Tyr) | |
22 | g.37075189A= | CA2404171280 | TMPRSS6 | c.1288T= (p.Ser430=) c.1315T= (p.Ser439=) c.856T= (p.Ser286=) | |
22 | g.37075189A>C | CA411421995 | TMPRSS6 | c.1288T>G (p.Ser430Ala) c.1315T>G (p.Ser439Ala) c.856T>G (p.Ser286Ala) | |
22 | g.37075189A>G | CA324050252 | TMPRSS6 | c.1288T>C (p.Ser430Pro) c.1315T>C (p.Ser439Pro) c.856T>C (p.Ser286Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075189A>T | CA411421997 | TMPRSS6 | c.1288T>A (p.Ser430Thr) c.1315T>A (p.Ser439Thr) c.856T>A (p.Ser286Thr) | |
22 | g.37075189_37075190insCCCCATCACAGGCAGG | CA2656484737 | TMPRSS6 | c.1287_1288insCCTGCCTGTGATGGGG (p.Ser430ProfsTer?) c.1314_1315insCCTGCCTGTGATGGGG (p.Ser439ProfsTer?) c.855_856insCCTGCCTGTGATGGGG (p.Ser286ProfsTer?) | gnomAD v4 |
22 | g.37075190G>A | CA514482566 | TMPRSS6 | c.1287C>T (p.Ile429=) c.1314C>T (p.Ile438=) c.855C>T (p.Ile285=) | |
22 | g.37075190G>C | CA411421999 | TMPRSS6 | c.1287C>G (p.Ile429Met) c.1314C>G (p.Ile438Met) c.855C>G (p.Ile285Met) | |
22 | g.37075190G>T | CA514482567 | TMPRSS6 | c.1287C>A (p.Ile429=) c.1314C>A (p.Ile438=) c.855C>A (p.Ile285=) | |
22 | g.37075191A>C | CA411422001 | TMPRSS6 | c.1286T>G (p.Ile429Ser) c.1313T>G (p.Ile438Ser) c.854T>G (p.Ile285Ser) | |
22 | g.37075191A>G | CA411422002 | TMPRSS6 | c.1286T>C (p.Ile429Thr) c.1313T>C (p.Ile438Thr) c.854T>C (p.Ile285Thr) | |
22 | g.37075191A>T | CA411422004 | TMPRSS6 | c.1286T>A (p.Ile429Asn) c.1313T>A (p.Ile438Asn) c.854T>A (p.Ile285Asn) | |
22 | g.37075191_37075192insCACAGAGTCCATTCACAGAACAGAGGAAC | CA2656484740 | TMPRSS6 | c.1285_1286insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile429SerfsTer6) c.1312_1313insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile438SerfsTer6) c.853_854insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile285SerfsTer6) | gnomAD v4 |
22 | g.37075192T>A | CA411422006 | TMPRSS6 | c.1285A>T (p.Ile429Phe) c.1312A>T (p.Ile438Phe) c.853A>T (p.Ile285Phe) | |
22 | g.37075192T>C | CA411422007 | TMPRSS6 | c.1285A>G (p.Ile429Val) c.1312A>G (p.Ile438Val) c.853A>G (p.Ile285Val) | |
22 | g.37075192T>G | CA411422009 | TMPRSS6 | c.1285A>C (p.Ile429Leu) c.1312A>C (p.Ile438Leu) c.853A>C (p.Ile285Leu) | |
22 | g.37075193C>A | CA411422011 | TMPRSS6 | c.1284G>T (p.Gln428His) c.1311G>T (p.Gln437His) c.852G>T (p.Gln284His) | |
22 | g.37075193C>G | CA411422013 | TMPRSS6 | c.1284G>C (p.Gln428His) c.1311G>C (p.Gln437His) c.852G>C (p.Gln284His) | gnomAD v4 |
22 | g.37075193C>T | CA514482570 | TMPRSS6 | c.1284G>A (p.Gln428=) c.1311G>A (p.Gln437=) c.852G>A (p.Gln284=) | |
22 | g.37075194T>A | CA411422015 | TMPRSS6 | c.1283A>T (p.Gln428Leu) c.1310A>T (p.Gln437Leu) c.851A>T (p.Gln284Leu) | |
22 | g.37075194T>C | CA411422016 | TMPRSS6 | c.1283A>G (p.Gln428Arg) c.1310A>G (p.Gln437Arg) c.851A>G (p.Gln284Arg) | |
22 | g.37075194T>G | CA411422018 | TMPRSS6 | c.1283A>C (p.Gln428Pro) c.1310A>C (p.Gln437Pro) c.851A>C (p.Gln284Pro) | |
22 | g.37075195G>A | CA411422024 | TMPRSS6 | c.1282C>T (p.Gln428Ter) c.1309C>T (p.Gln437Ter) c.850C>T (p.Gln284Ter) | |
22 | g.37075195G>C | CA411422022 | TMPRSS6 | c.1282C>G (p.Gln428Glu) c.1309C>G (p.Gln437Glu) c.850C>G (p.Gln284Glu) | |
22 | g.37075195G>T | CA411422020 | TMPRSS6 | c.1282C>A (p.Gln428Lys) c.1309C>A (p.Gln437Lys) c.850C>A (p.Gln284Lys) | COSMIC COSMIC |
22 | g.37075196G>A | CA514482572 | TMPRSS6 | c.1281C>T (p.Ser427=) c.1308C>T (p.Ser436=) c.849C>T (p.Ser283=) | |
22 | g.37075196G>C | CA514482573 | TMPRSS6 | c.1281C>G (p.Ser427=) c.1308C>G (p.Ser436=) c.849C>G (p.Ser283=) | |
22 | g.37075196G>T | CA514482574 | TMPRSS6 | c.1281C>A (p.Ser427=) c.1308C>A (p.Ser436=) c.849C>A (p.Ser283=) | |
22 | g.37075197G>A | CA324050264 | TMPRSS6 | c.1280C>T (p.Ser427Phe) c.1307C>T (p.Ser436Phe) c.848C>T (p.Ser283Phe) | dbSNP |
22 | g.37075197G>C | CA411422027 | TMPRSS6 | c.1280C>G (p.Ser427Cys) c.1307C>G (p.Ser436Cys) c.848C>G (p.Ser283Cys) | |
22 | g.37075197G= | CA2404171281 | TMPRSS6 | c.1280C= (p.Ser427=) c.1307C= (p.Ser436=) c.848C= (p.Ser283=) | |
22 | g.37075197G>T | CA411422028 | TMPRSS6 | c.1280C>A (p.Ser427Tyr) c.1307C>A (p.Ser436Tyr) c.848C>A (p.Ser283Tyr) | |
22 | g.37075198A>C | CA411422030 | TMPRSS6 | c.1279T>G (p.Ser427Ala) c.1306T>G (p.Ser436Ala) c.847T>G (p.Ser283Ala) | |
22 | g.37075198A>G | CA411422032 | TMPRSS6 | c.1279T>C (p.Ser427Pro) c.1306T>C (p.Ser436Pro) c.847T>C (p.Ser283Pro) | |
22 | g.37075198A>T | CA411422034 | TMPRSS6 | c.1279T>A (p.Ser427Thr) c.1306T>A (p.Ser436Thr) c.847T>A (p.Ser283Thr) | |
22 | g.37075199G>A | CA514482579 | TMPRSS6 | c.1278C>T (p.Thr426=) c.1305C>T (p.Thr435=) c.846C>T (p.Thr282=) | gnomAD v4 |
22 | g.37075199G>C | CA514482578 | TMPRSS6 | c.1278C>G (p.Thr426=) c.1305C>G (p.Thr435=) c.846C>G (p.Thr282=) | |
22 | g.37075199G>T | CA514482577 | TMPRSS6 | c.1278C>A (p.Thr426=) c.1305C>A (p.Thr435=) c.846C>A (p.Thr282=) | |
22 | g.37075200G>A | CA10215672 | TMPRSS6 | c.1277C>T (p.Thr426Ile) c.1304C>T (p.Thr435Ile) c.845C>T (p.Thr282Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075200G>C | CA411422036 | TMPRSS6 | c.1277C>G (p.Thr426Ser) c.1304C>G (p.Thr435Ser) c.845C>G (p.Thr282Ser) | |
22 | g.37075200G= | CA2404171282 | TMPRSS6 | c.1277C= (p.Thr426=) c.1304C= (p.Thr435=) c.845C= (p.Thr282=) | |
22 | g.37075200G>T | CA411422038 | TMPRSS6 | c.1277C>A (p.Thr426Asn) c.1304C>A (p.Thr435Asn) c.845C>A (p.Thr282Asn) | |
22 | g.37075201T>A | CA411422040 | TMPRSS6 | c.1276A>T (p.Thr426Ser) c.1303A>T (p.Thr435Ser) c.844A>T (p.Thr282Ser) | |
22 | g.37075201T>C | CA411422042 | TMPRSS6 | c.1276A>G (p.Thr426Ala) c.1303A>G (p.Thr435Ala) c.844A>G (p.Thr282Ala) | |
22 | g.37075201T>G | CA411422044 | TMPRSS6 | c.1276A>C (p.Thr426Pro) c.1303A>C (p.Thr435Pro) c.844A>C (p.Thr282Pro) | |
22 | g.37075202G>A | CA514482583 | TMPRSS6 | c.1275C>T (p.Phe425=) c.1302C>T (p.Phe434=) c.843C>T (p.Phe281=) | |
22 | g.37075202G>C | CA411422045 | TMPRSS6 | c.1275C>G (p.Phe425Leu) c.1302C>G (p.Phe434Leu) c.843C>G (p.Phe281Leu) | |
22 | g.37075202G>T | CA411422046 | TMPRSS6 | c.1275C>A (p.Phe425Leu) c.1302C>A (p.Phe434Leu) c.843C>A (p.Phe281Leu) | |
22 | g.37075203A>C | CA411422049 | TMPRSS6 | c.1274T>G (p.Phe425Cys) c.1301T>G (p.Phe434Cys) c.842T>G (p.Phe281Cys) | |
22 | g.37075203A>G | CA411422051 | TMPRSS6 | c.1274T>C (p.Phe425Ser) c.1301T>C (p.Phe434Ser) c.842T>C (p.Phe281Ser) | |
22 | g.37075203A>T | CA411422050 | TMPRSS6 | c.1274T>A (p.Phe425Tyr) c.1301T>A (p.Phe434Tyr) c.842T>A (p.Phe281Tyr) | |
22 | g.37075204A>C | CA411422052 | TMPRSS6 | c.1273T>G (p.Phe425Val) c.1300T>G (p.Phe434Val) c.841T>G (p.Phe281Val) | |
22 | g.37075204A>G | CA411422054 | TMPRSS6 | c.1273T>C (p.Phe425Leu) c.1300T>C (p.Phe434Leu) c.841T>C (p.Phe281Leu) | |
22 | g.37075204A>T | CA411422056 | TMPRSS6 | c.1273T>A (p.Phe425Ile) c.1300T>A (p.Phe434Ile) c.841T>A (p.Phe281Ile) | |
22 | g.37075205G>A | CA514482584 | TMPRSS6 | c.1272C>T (p.Asn424=) c.1299C>T (p.Asn433=) c.840C>T (p.Asn280=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075205G>C | CA411422058 | TMPRSS6 | c.1272C>G (p.Asn424Lys) c.1299C>G (p.Asn433Lys) c.840C>G (p.Asn280Lys) | |
22 | g.37075205G= | CA2404171283 | TMPRSS6 | c.1272C= (p.Asn424=) c.1299C= (p.Asn433=) c.840C= (p.Asn280=) | |
22 | g.37075205G>T | CA411422060 | TMPRSS6 | c.1272C>A (p.Asn424Lys) c.1299C>A (p.Asn433Lys) c.840C>A (p.Asn280Lys) | |
22 | g.37075206T>A | CA411422062 | TMPRSS6 | c.1271A>T (p.Asn424Ile) c.1298A>T (p.Asn433Ile) c.839A>T (p.Asn280Ile) | |
22 | g.37075206T>C | CA411422064 | TMPRSS6 | c.1271A>G (p.Asn424Ser) c.1298A>G (p.Asn433Ser) c.839A>G (p.Asn280Ser) | |
22 | g.37075206T>G | CA411422067 | TMPRSS6 | c.1271A>C (p.Asn424Thr) c.1298A>C (p.Asn433Thr) c.839A>C (p.Asn280Thr) | |
22 | g.37075207T>A | CA411422069 | TMPRSS6 | c.1270A>T (p.Asn424Tyr) c.1297A>T (p.Asn433Tyr) c.838A>T (p.Asn280Tyr) | |
22 | g.37075207T>C | CA411422071 | TMPRSS6 | c.1270A>G (p.Asn424Asp) c.1297A>G (p.Asn433Asp) c.838A>G (p.Asn280Asp) | |
22 | g.37075207T>G | CA411422073 | TMPRSS6 | c.1270A>C (p.Asn424His) c.1297A>C (p.Asn433His) c.838A>C (p.Asn280His) | dbSNP gnomAD v2 |
22 | g.37075207T= | CA2404171284 | TMPRSS6 | c.1270A= (p.Asn424=) c.1297A= (p.Asn433=) c.838A= (p.Asn280=) | |
22 | g.37075208G>A | CA514482586 | TMPRSS6 | c.1269C>T (p.Ile423=) c.1296C>T (p.Ile432=) c.837C>T (p.Ile279=) | |
22 | g.37075208G>C | CA411422075 | TMPRSS6 | c.1269C>G (p.Ile423Met) c.1296C>G (p.Ile432Met) c.837C>G (p.Ile279Met) | |
22 | g.37075208G>T | CA514482587 | TMPRSS6 | c.1269C>A (p.Ile423=) c.1296C>A (p.Ile432=) c.837C>A (p.Ile279=) | |
22 | g.37075209A>C | CA411422078 | TMPRSS6 | c.1268T>G (p.Ile423Ser) c.1295T>G (p.Ile432Ser) c.836T>G (p.Ile279Ser) | |
22 | g.37075209A>G | CA411422077 | TMPRSS6 | c.1268T>C (p.Ile423Thr) c.1295T>C (p.Ile432Thr) c.836T>C (p.Ile279Thr) | |
22 | g.37075209A>T | CA411422080 | TMPRSS6 | c.1268T>A (p.Ile423Asn) c.1295T>A (p.Ile432Asn) c.836T>A (p.Ile279Asn) | |
22 | g.37075210T>A | CA411422082 | TMPRSS6 | c.1267A>T (p.Ile423Phe) c.1294A>T (p.Ile432Phe) c.835A>T (p.Ile279Phe) | |
22 | g.37075210T>C | CA411422085 | TMPRSS6 | c.1267A>G (p.Ile423Val) c.1294A>G (p.Ile432Val) c.835A>G (p.Ile279Val) | |
22 | g.37075210T>G | CA411422087 | TMPRSS6 | c.1267A>C (p.Ile423Leu) c.1294A>C (p.Ile432Leu) c.835A>C (p.Ile279Leu) | |
22 | g.37075211G>A | CA324050272 | TMPRSS6 | c.1266C>T (p.Thr422=) c.1293C>T (p.Thr431=) c.834C>T (p.Thr278=) | dbSNP |
22 | g.37075211G>C | CA514482588 | TMPRSS6 | c.1266C>G (p.Thr422=) c.1293C>G (p.Thr431=) c.834C>G (p.Thr278=) | |
22 | g.37075211G= | CA2404171285 | TMPRSS6 | c.1266C= (p.Thr422=) c.1293C= (p.Thr431=) c.834C= (p.Thr278=) | |
22 | g.37075211G>T | CA514482589 | TMPRSS6 | c.1266C>A (p.Thr422=) c.1293C>A (p.Thr431=) c.834C>A (p.Thr278=) | |
22 | g.37075212G>A | CA411422089 | TMPRSS6 | c.1265C>T (p.Thr422Ile) c.1292C>T (p.Thr431Ile) c.833C>T (p.Thr278Ile) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075212G>C | CA411422091 | TMPRSS6 | c.1265C>G (p.Thr422Ser) c.1292C>G (p.Thr431Ser) c.833C>G (p.Thr278Ser) | |
22 | g.37075212G= | CA2404171286 | TMPRSS6 | c.1265C= (p.Thr422=) c.1292C= (p.Thr431=) c.833C= (p.Thr278=) | |
22 | g.37075212G>T | CA411422093 | TMPRSS6 | c.1265C>A (p.Thr422Asn) c.1292C>A (p.Thr431Asn) c.833C>A (p.Thr278Asn) | |
22 | g.37075213T>A | CA411422095 | TMPRSS6 | c.1264A>T (p.Thr422Ser) c.1291A>T (p.Thr431Ser) c.832A>T (p.Thr278Ser) | |
22 | g.37075213T>C | CA411422097 | TMPRSS6 | c.1264A>G (p.Thr422Ala) c.1291A>G (p.Thr431Ala) c.832A>G (p.Thr278Ala) | |
22 | g.37075213T>G | CA411422099 | TMPRSS6 | c.1264A>C (p.Thr422Pro) c.1291A>C (p.Thr431Pro) c.832A>C (p.Thr278Pro) | |
22 | g.37075214G>A | CA514482591 | TMPRSS6 | c.1263C>T (p.Ile421=) c.1290C>T (p.Ile430=) c.831C>T (p.Ile277=) | |
22 | g.37075214G>C | CA411422101 | TMPRSS6 | c.1263C>G (p.Ile421Met) c.1290C>G (p.Ile430Met) c.831C>G (p.Ile277Met) | |
22 | g.37075214G>T | CA514482590 | TMPRSS6 | c.1263C>A (p.Ile421=) c.1290C>A (p.Ile430=) c.831C>A (p.Ile277=) |