Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.37075109_37075118delinsGGGTTCCCCCCA2404171234TMPRSS6c.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)
22g.37075112_37075120delCA752942979TMPRSS6c.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
22g.37075113T>ACA324050154TMPRSS6c.1342+22A>T (n.1342+22A>T)
c.1369+22A>T (n.1369+22A>T)
c.910+22A>T (n.910+22A>T)
dbSNP gnomAD v3 gnomAD v4
22g.37075113T=CA2404171237TMPRSS6c.1342+22A= (n.1342+22A=)
c.1369+22A= (n.1369+22A=)
c.910+22A= (n.910+22A=)
22g.37075114C>ACA2656484633TMPRSS6c.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
22g.37075114C=CA2404171238TMPRSS6c.1342+21G= (n.1342+21G=)
c.1369+21G= (n.1369+21G=)
c.910+21G= (n.910+21G=)
22g.37075114C>GCA10215649TMPRSS6c.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
22g.37075114C>TCA10215650TMPRSS6c.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
22g.37075118dupCA10215648TMPRSS6c.1342+21dup (n.1342+21dup)
c.1369+21dup (n.1369+21dup)
c.910+21dup (n.910+21dup)
dbSNP ExAC gnomAD v2
22g.37075118delCA2737858217TMPRSS6c.1342+21del (n.1342+21del)
c.1369+21del (n.1369+21del)
c.910+21del (n.910+21del)
dbSNP
22g.37075115C>ACA2404171239TMPRSS6c.1342+20G>T (n.1342+20G>T)
c.1369+20G>T (n.1369+20G>T)
c.910+20G>T (n.910+20G>T)
dbSNP
22g.37075115C=CA2404171240TMPRSS6c.1342+20G= (n.1342+20G=)
c.1369+20G= (n.1369+20G=)
c.910+20G= (n.910+20G=)
22g.37075117C>TCA2656484635TMPRSS6c.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
22g.37075118C=CA2404171241TMPRSS6c.1342+17G= (n.1342+17G=)
c.1369+17G= (n.1369+17G=)
c.910+17G= (n.910+17G=)
22g.37075118C>TCA639177182TMPRSS6c.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
22g.37075119G>ACA10215651TMPRSS6c.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
22g.37075119G>CCA10215652TMPRSS6c.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
22g.37075119G=CA2404171242TMPRSS6c.1342+16C= (n.1342+16C=)
c.1369+16C= (n.1369+16C=)
c.910+16C= (n.910+16C=)
22g.37075120G>CCA10215653TMPRSS6c.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
22g.37075120G=CA2404171243TMPRSS6c.1342+15C= (n.1342+15C=)
c.1369+15C= (n.1369+15C=)
c.910+15C= (n.910+15C=)
22g.37075121C=CA2404171244TMPRSS6c.1342+14G= (n.1342+14G=)
c.1369+14G= (n.1369+14G=)
c.910+14G= (n.910+14G=)
22g.37075121C>TCA324050168TMPRSS6c.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
22g.37075124C=CA2404171245TMPRSS6c.1342+11G= (n.1342+11G=)
c.1369+11G= (n.1369+11G=)
c.910+11G= (n.910+11G=)
22g.37075124C>TCA10215654TMPRSS6c.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
22g.37075126delCA2656484639TMPRSS6c.1342+11del (n.1342+11del)
c.1369+11del (n.1369+11del)
c.910+11del (n.910+11del)
gnomAD v4
22g.37075125C=CA2404171246TMPRSS6c.1342+10G= (n.1342+10G=)
c.1369+10G= (n.1369+10G=)
c.910+10G= (n.910+10G=)
22g.37075125C>TCA639177183TMPRSS6c.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
22g.37075126C>ACA2656484640TMPRSS6c.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
22g.37075126C=CA2404171247TMPRSS6c.1342+9G= (n.1342+9G=)
c.1369+9G= (n.1369+9G=)
c.910+9G= (n.910+9G=)
22g.37075126_37075127insGTATCA2404171248TMPRSS6c.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
22g.37075127A=CA2404171249TMPRSS6c.1342+8T= (n.1342+8T=)
c.1369+8T= (n.1369+8T=)
c.910+8T= (n.910+8T=)
22g.37075127A>CCA2656484641TMPRSS6c.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
22g.37075127A>GCA10215655TMPRSS6c.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
22g.37075131_37075134delCA2656484642TMPRSS6c.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
22g.37075130C=CA2404171250TMPRSS6c.1342+5G= (n.1342+5G=)
c.1369+5G= (n.1369+5G=)
c.910+5G= (n.910+5G=)
22g.37075130C>TCA639177184TMPRSS6c.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
22g.37075131T>ACA324050173TMPRSS6c.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
22g.37075131T=CA2404171251TMPRSS6c.1342+4A= (n.1342+4A=)
c.1369+4A= (n.1369+4A=)
c.910+4A= (n.910+4A=)
22g.37075132C>TCA2656484644TMPRSS6c.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
22g.37075133A>CCA411421771TMPRSS6c.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
22g.37075133A>GCA411421772TMPRSS6c.1342+2T>C (n.1342+2T>C)
c.1369+2T>C (n.1369+2T>C)
c.910+2T>C (n.910+2T>C)
22g.37075133A>TCA411421773TMPRSS6c.1342+2T>A (n.1342+2T>A)
c.1369+2T>A (n.1369+2T>A)
c.910+2T>A (n.910+2T>A)
22g.37075133dupCA2656484646TMPRSS6c.1342+2dup (n.1342+2dup)
c.1369+2dup (n.1369+2dup)
c.910+2dup (n.910+2dup)
gnomAD v4
22g.37075134C>ACA411421775TMPRSS6c.1342+1G>T (n.1342+1G>T)
c.1369+1G>T (n.1369+1G>T)
c.910+1G>T (n.910+1G>T)
22g.37075134C=CA2404171252TMPRSS6c.1342+1G= (n.1342+1G=)
c.1369+1G= (n.1369+1G=)
c.910+1G= (n.910+1G=)
22g.37075134C>GCA411421776TMPRSS6c.1342+1G>C (n.1342+1G>C)
c.1369+1G>C (n.1369+1G>C)
c.910+1G>C (n.910+1G>C)
22g.37075134C>TCA324050174TMPRSS6c.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
22g.37075135G>ACA411421787TMPRSS6c.1342C>T (p.Pro448Ser)
c.1369C>T (p.Pro457Ser)
c.910C>T (p.Pro304Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
22g.37075135G>CCA411421780TMPRSS6c.1342C>G (p.Pro448Ala)
c.1369C>G (p.Pro457Ala)
c.910C>G (p.Pro304Ala)
22g.37075135G=CA2404171253TMPRSS6c.1342C= (p.Pro448=)
c.1369C= (p.Pro457=)
c.910C= (p.Pro304=)
22g.37075135G>TCA411421784TMPRSS6c.1342C>A (p.Pro448Thr)
c.1369C>A (p.Pro457Thr)
c.910C>A (p.Pro304Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37075136G>ACA514482482TMPRSS6c.1341C>T (p.Asp447=)
c.1368C>T (p.Asp456=)
c.909C>T (p.Asp303=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37075136G>CCA411421788TMPRSS6c.1341C>G (p.Asp447Glu)
c.1368C>G (p.Asp456Glu)
c.909C>G (p.Asp303Glu)
22g.37075136G=CA2404171254TMPRSS6c.1341C= (p.Asp447=)
c.1368C= (p.Asp456=)
c.909C= (p.Asp303=)
22g.37075136G>TCA411421790TMPRSS6c.1341C>A (p.Asp447Glu)
c.1368C>A (p.Asp456Glu)
c.909C>A (p.Asp303Glu)
22g.37075137T>ACA411421792TMPRSS6c.1340A>T (p.Asp447Val)
c.1367A>T (p.Asp456Val)
c.908A>T (p.Asp303Val)
22g.37075137T>CCA411421793TMPRSS6c.1340A>G (p.Asp447Gly)
c.1367A>G (p.Asp456Gly)
c.908A>G (p.Asp303Gly)
22g.37075137T>GCA411421795TMPRSS6c.1340A>C (p.Asp447Ala)
c.1367A>C (p.Asp456Ala)
c.908A>C (p.Asp303Ala)
22g.37075138C>ACA411421797TMPRSS6c.1339G>T (p.Asp447Tyr)
c.1366G>T (p.Asp456Tyr)
c.907G>T (p.Asp303Tyr)
22g.37075138C>GCA411421798TMPRSS6c.1339G>C (p.Asp447His)
c.1366G>C (p.Asp456His)
c.907G>C (p.Asp303His)
22g.37075138C>TCA411421800TMPRSS6c.1339G>A (p.Asp447Asn)
c.1366G>A (p.Asp456Asn)
c.907G>A (p.Asp303Asn)
22g.37075139C>ACA514482484TMPRSS6c.1338G>T (p.Ser446=)
c.1365G>T (p.Ser455=)
c.906G>T (p.Ser302=)
22g.37075139C=CA2404171255TMPRSS6c.1338G= (p.Ser446=)
c.1365G= (p.Ser455=)
c.906G= (p.Ser302=)
22g.37075139C>GCA10215657TMPRSS6c.1338G>C (p.Ser446=)
c.1365G>C (p.Ser455=)
c.906G>C (p.Ser302=)
dbSNP ExAC gnomAD v4
22g.37075139C>TCA10215656TMPRSS6c.1338G>A (p.Ser446=)
c.1365G>A (p.Ser455=)
c.906G>A (p.Ser302=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075140G>ACA10215659TMPRSS6c.1337C>T (p.Ser446Leu)
c.1364C>T (p.Ser455Leu)
c.905C>T (p.Ser302Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075140G>CCA10215658TMPRSS6c.1337C>G (p.Ser446Trp)
c.1364C>G (p.Ser455Trp)
c.905C>G (p.Ser302Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075140G=CA2404171256TMPRSS6c.1337C= (p.Ser446=)
c.1364C= (p.Ser455=)
c.905C= (p.Ser302=)
22g.37075140G>TCA411421806TMPRSS6c.1337C>A (p.Ser446Ter)
c.1364C>A (p.Ser455Ter)
c.905C>A (p.Ser302Ter)
22g.37075141A>CCA411421808TMPRSS6c.1336T>G (p.Ser446Ala)
c.1363T>G (p.Ser455Ala)
c.904T>G (p.Ser302Ala)
gnomAD v4
22g.37075141A>GCA411421812TMPRSS6c.1336T>C (p.Ser446Pro)
c.1363T>C (p.Ser455Pro)
c.904T>C (p.Ser302Pro)
22g.37075141A>TCA411421810TMPRSS6c.1336T>A (p.Ser446Thr)
c.1363T>A (p.Ser455Thr)
c.904T>A (p.Ser302Thr)
22g.37075142C>ACA411421814TMPRSS6c.1335G>T (p.Gln445His)
c.1362G>T (p.Gln454His)
c.903G>T (p.Gln301His)
22g.37075142C>GCA411421816TMPRSS6c.1335G>C (p.Gln445His)
c.1362G>C (p.Gln454His)
c.903G>C (p.Gln301His)
gnomAD v4
22g.37075142C>TCA514482487TMPRSS6c.1335G>A (p.Gln445=)
c.1362G>A (p.Gln454=)
c.903G>A (p.Gln301=)
22g.37075143T>ACA411421819TMPRSS6c.1334A>T (p.Gln445Leu)
c.1361A>T (p.Gln454Leu)
c.902A>T (p.Gln301Leu)
22g.37075143T>CCA411421820TMPRSS6c.1334A>G (p.Gln445Arg)
c.1361A>G (p.Gln454Arg)
c.902A>G (p.Gln301Arg)
22g.37075143T>GCA411421821TMPRSS6c.1334A>C (p.Gln445Pro)
c.1361A>C (p.Gln454Pro)
c.902A>C (p.Gln301Pro)
22g.37075144G>ACA411421824TMPRSS6c.1333C>T (p.Gln445Ter)
c.1360C>T (p.Gln454Ter)
c.901C>T (p.Gln301Ter)
22g.37075144G>CCA411421826TMPRSS6c.1333C>G (p.Gln445Glu)
c.1360C>G (p.Gln454Glu)
c.901C>G (p.Gln301Glu)
dbSNP gnomAD v3 gnomAD v4
22g.37075144G=CA2404171257TMPRSS6c.1333C= (p.Gln445=)
c.1360C= (p.Gln454=)
c.901C= (p.Gln301=)
22g.37075144G>TCA411421827TMPRSS6c.1333C>A (p.Gln445Lys)
c.1360C>A (p.Gln454Lys)
c.901C>A (p.Gln301Lys)
22g.37075145G>ACA514482490TMPRSS6c.1332C>T (p.Asn444=)
c.1359C>T (p.Asn453=)
c.900C>T (p.Asn300=)
22g.37075145G>CCA411421831TMPRSS6c.1332C>G (p.Asn444Lys)
c.1359C>G (p.Asn453Lys)
c.900C>G (p.Asn300Lys)
22g.37075145G>TCA411421832TMPRSS6c.1332C>A (p.Asn444Lys)
c.1359C>A (p.Asn453Lys)
c.900C>A (p.Asn300Lys)
22g.37075146T>ACA411421835TMPRSS6c.1331A>T (p.Asn444Ile)
c.1358A>T (p.Asn453Ile)
c.899A>T (p.Asn300Ile)
22g.37075146T>CCA411421837TMPRSS6c.1331A>G (p.Asn444Ser)
c.1358A>G (p.Asn453Ser)
c.899A>G (p.Asn300Ser)
gnomAD v4
22g.37075146T>GCA411421838TMPRSS6c.1331A>C (p.Asn444Thr)
c.1358A>C (p.Asn453Thr)
c.899A>C (p.Asn300Thr)
22g.37075146_37075147insCCCTCCAGACACTCGGCTAGGCCTGCCCTACCTTCCTGGCACTGCTCTTCGTCGCTGCCGTTGAGACAACA2656484667TMPRSS6c.1330_1331insTTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCCTAGCCGAGTGTCTGGAGGG (p.Asn444IlefsTer18)
c.1357_1358insTTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCCTAGCCGAGTGTCTGGAGGG (p.Asn453IlefsTer18)
c.898_899insTTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCCTAGCCGAGTGTCTGGAGGG (p.Asn300IlefsTer18)
gnomAD v4
22g.37075147T>ACA411421840TMPRSS6c.1330A>T (p.Asn444Tyr)
c.1357A>T (p.Asn453Tyr)
c.898A>T (p.Asn300Tyr)
22g.37075147T>CCA411421845TMPRSS6c.1330A>G (p.Asn444Asp)
c.1357A>G (p.Asn453Asp)
c.898A>G (p.Asn300Asp)
22g.37075147T>GCA411421842TMPRSS6c.1330A>C (p.Asn444His)
c.1357A>C (p.Asn453His)
c.898A>C (p.Asn300His)
22g.37075148G>ACA324050179TMPRSS6c.1329C>T (p.Tyr443=)
c.1356C>T (p.Tyr452=)
c.897C>T (p.Tyr299=)
dbSNP gnomAD v2 gnomAD v4
22g.37075148G>CCA411421847TMPRSS6c.1329C>G (p.Tyr443Ter)
c.1356C>G (p.Tyr452Ter)
c.897C>G (p.Tyr299Ter)
22g.37075148G=CA2404171258TMPRSS6c.1329C= (p.Tyr443=)
c.1356C= (p.Tyr452=)
c.897C= (p.Tyr299=)
22g.37075148G>TCA411421849TMPRSS6c.1329C>A (p.Tyr443Ter)
c.1356C>A (p.Tyr452Ter)
c.897C>A (p.Tyr299Ter)
22g.37075149T>ACA411421851TMPRSS6c.1328A>T (p.Tyr443Phe)
c.1355A>T (p.Tyr452Phe)
c.896A>T (p.Tyr299Phe)
22g.37075149T>CCA411421853TMPRSS6c.1328A>G (p.Tyr443Cys)
c.1355A>G (p.Tyr452Cys)
c.896A>G (p.Tyr299Cys)
22g.37075149T>GCA411421854TMPRSS6c.1328A>C (p.Tyr443Ser)
c.1355A>C (p.Tyr452Ser)
c.896A>C (p.Tyr299Ser)
22g.37075150A=CA2404171259TMPRSS6c.1327T= (p.Tyr443=)
c.1354T= (p.Tyr452=)
c.895T= (p.Tyr299=)
22g.37075150A>CCA411421857TMPRSS6c.1327T>G (p.Tyr443Asp)
c.1354T>G (p.Tyr452Asp)
c.895T>G (p.Tyr299Asp)
22g.37075150A>GCA411421859TMPRSS6c.1327T>C (p.Tyr443His)
c.1354T>C (p.Tyr452His)
c.895T>C (p.Tyr299His)
dbSNP
22g.37075150A>TCA411421861TMPRSS6c.1327T>A (p.Tyr443Asn)
c.1354T>A (p.Tyr452Asn)
c.895T>A (p.Tyr299Asn)
22g.37075151C>ACA10215660TMPRSS6c.1326G>T (p.Leu442Phe)
c.1353G>T (p.Leu451Phe)
c.894G>T (p.Leu298Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075151C=CA2404171260TMPRSS6c.1326G= (p.Leu442=)
c.1353G= (p.Leu451=)
c.894G= (p.Leu298=)
22g.37075151C>GCA411421863TMPRSS6c.1326G>C (p.Leu442Phe)
c.1353G>C (p.Leu451Phe)
c.894G>C (p.Leu298Phe)
dbSNP
22g.37075151C>TCA514482507TMPRSS6c.1326G>A (p.Leu442=)
c.1353G>A (p.Leu451=)
c.894G>A (p.Leu298=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37075152A=CA2404171261TMPRSS6c.1325T= (p.Leu442=)
c.1352T= (p.Leu451=)
c.893T= (p.Leu298=)
22g.37075152A>CCA411421869TMPRSS6c.1325T>G (p.Leu442Trp)
c.1352T>G (p.Leu451Trp)
c.893T>G (p.Leu298Trp)
dbSNP
22g.37075152A>GCA411421867TMPRSS6c.1325T>C (p.Leu442Ser)
c.1352T>C (p.Leu451Ser)
c.893T>C (p.Leu298Ser)
22g.37075152A>TCA411421865TMPRSS6c.1325T>A (p.Leu442Ter)
c.1352T>A (p.Leu451Ter)
c.893T>A (p.Leu298Ter)
22g.37075153A>CCA411421871TMPRSS6c.1324T>G (p.Leu442Val)
c.1351T>G (p.Leu451Val)
c.892T>G (p.Leu298Val)
22g.37075153A>GCA514482509TMPRSS6c.1324T>C (p.Leu442=)
c.1351T>C (p.Leu451=)
c.892T>C (p.Leu298=)
22g.37075153A>TCA411421872TMPRSS6c.1324T>A (p.Leu442Met)
c.1351T>A (p.Leu451Met)
c.892T>A (p.Leu298Met)
22g.37075154G>ACA514482510TMPRSS6c.1323C>T (p.Gly441=)
c.1350C>T (p.Gly450=)
c.891C>T (p.Gly297=)
22g.37075154G>CCA514482511TMPRSS6c.1323C>G (p.Gly441=)
c.1350C>G (p.Gly450=)
c.891C>G (p.Gly297=)
22g.37075154G>TCA514482512TMPRSS6c.1323C>A (p.Gly441=)
c.1350C>A (p.Gly450=)
c.891C>A (p.Gly297=)
22g.37075155C>ACA411421874TMPRSS6c.1322G>T (p.Gly441Val)
c.1349G>T (p.Gly450Val)
c.890G>T (p.Gly297Val)
22g.37075155C>GCA411421876TMPRSS6c.1322G>C (p.Gly441Ala)
c.1349G>C (p.Gly450Ala)
c.890G>C (p.Gly297Ala)
22g.37075155C>TCA411421877TMPRSS6c.1322G>A (p.Gly441Asp)
c.1349G>A (p.Gly450Asp)
c.890G>A (p.Gly297Asp)
22g.37075156C>ACA411421880TMPRSS6c.1321G>T (p.Gly441Cys)
c.1348G>T (p.Gly450Cys)
c.889G>T (p.Gly297Cys)
22g.37075156C>GCA411421881TMPRSS6c.1321G>C (p.Gly441Arg)
c.1348G>C (p.Gly450Arg)
c.889G>C (p.Gly297Arg)
22g.37075156C>TCA411421883TMPRSS6c.1321G>A (p.Gly441Ser)
c.1348G>A (p.Gly450Ser)
c.889G>A (p.Gly297Ser)
22g.37075157A>CCA411421884TMPRSS6c.1320T>G (p.Tyr440Ter)
c.1347T>G (p.Tyr449Ter)
c.888T>G (p.Tyr296Ter)
22g.37075157A>GCA514482514TMPRSS6c.1320T>C (p.Tyr440=)
c.1347T>C (p.Tyr449=)
c.888T>C (p.Tyr296=)
22g.37075157A>TCA411421886TMPRSS6c.1320T>A (p.Tyr440Ter)
c.1347T>A (p.Tyr449Ter)
c.888T>A (p.Tyr296Ter)
22g.37075158T>ACA411421888TMPRSS6c.1319A>T (p.Tyr440Phe)
c.1346A>T (p.Tyr449Phe)
c.887A>T (p.Tyr296Phe)
22g.37075158T>CCA411421890TMPRSS6c.1319A>G (p.Tyr440Cys)
c.1346A>G (p.Tyr449Cys)
c.887A>G (p.Tyr296Cys)
22g.37075158T>GCA411421892TMPRSS6c.1319A>C (p.Tyr440Ser)
c.1346A>C (p.Tyr449Ser)
c.887A>C (p.Tyr296Ser)
gnomAD v4
22g.37075159A>CCA411421895TMPRSS6c.1318T>G (p.Tyr440Asp)
c.1345T>G (p.Tyr449Asp)
c.886T>G (p.Tyr296Asp)
22g.37075159A>GCA411421896TMPRSS6c.1318T>C (p.Tyr440His)
c.1345T>C (p.Tyr449His)
c.886T>C (p.Tyr296His)
gnomAD v4
22g.37075159A>TCA411421898TMPRSS6c.1318T>A (p.Tyr440Asn)
c.1345T>A (p.Tyr449Asn)
c.886T>A (p.Tyr296Asn)
22g.37075160G>ACA514482517TMPRSS6c.1317C>T (p.His439=)
c.1344C>T (p.His448=)
c.885C>T (p.His295=)
gnomAD v4
22g.37075160G>CCA411421900TMPRSS6c.1317C>G (p.His439Gln)
c.1344C>G (p.His448Gln)
c.885C>G (p.His295Gln)
22g.37075160G>TCA411421902TMPRSS6c.1317C>A (p.His439Gln)
c.1344C>A (p.His448Gln)
c.885C>A (p.His295Gln)
22g.37075161T>ACA411421904TMPRSS6c.1316A>T (p.His439Leu)
c.1343A>T (p.His448Leu)
c.884A>T (p.His295Leu)
22g.37075161T>CCA10215661TMPRSS6c.1316A>G (p.His439Arg)
c.1343A>G (p.His448Arg)
c.884A>G (p.His295Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075161T>GCA411421907TMPRSS6c.1316A>C (p.His439Pro)
c.1343A>C (p.His448Pro)
c.884A>C (p.His295Pro)
gnomAD v4
22g.37075161T=CA2404171262TMPRSS6c.1316A= (p.His439=)
c.1343A= (p.His448=)
c.884A= (p.His295=)
22g.37075161_37075167delinsTGCACCCCA2404171263TMPRSS6c.1310_1316delinsGGGTGCA (p.Arg437=)
c.1337_1343delinsGGGTGCA (p.Arg446=)
c.878_884delinsGGGTGCA (p.Arg293=)
22g.37075162G>ACA411421910TMPRSS6c.1315C>T (p.His439Tyr)
c.1342C>T (p.His448Tyr)
c.883C>T (p.His295Tyr)
22g.37075162G>CCA411421911TMPRSS6c.1315C>G (p.His439Asp)
c.1342C>G (p.His448Asp)
c.883C>G (p.His295Asp)
22g.37075162G>TCA411421913TMPRSS6c.1315C>A (p.His439Asn)
c.1342C>A (p.His448Asn)
c.883C>A (p.His295Asn)
22g.37075166_37075171delCA1139667104TMPRSS6c.1310_1315del (p.Arg437_Val438del)
c.1337_1342del (p.Arg446_Val447del)
c.878_883del (p.Arg293_Val294del)
ClinVar dbSNP
22g.37075163C>ACA514482522TMPRSS6c.1314G>T (p.Val438=)
c.1341G>T (p.Val447=)
c.882G>T (p.Val294=)
dbSNP
22g.37075163C=CA2404171264TMPRSS6c.1314G= (p.Val438=)
c.1341G= (p.Val447=)
c.882G= (p.Val294=)
22g.37075163C>GCA514482520TMPRSS6c.1314G>C (p.Val438=)
c.1341G>C (p.Val447=)
c.882G>C (p.Val294=)
22g.37075163C>TCA10215662TMPRSS6c.1314G>A (p.Val438=)
c.1341G>A (p.Val447=)
c.882G>A (p.Val294=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075164A>CCA411421916TMPRSS6c.1313T>G (p.Val438Gly)
c.1340T>G (p.Val447Gly)
c.881T>G (p.Val294Gly)
22g.37075164A>GCA411421918TMPRSS6c.1313T>C (p.Val438Ala)
c.1340T>C (p.Val447Ala)
c.881T>C (p.Val294Ala)
22g.37075164A>TCA411421920TMPRSS6c.1313T>A (p.Val438Glu)
c.1340T>A (p.Val447Glu)
c.881T>A (p.Val294Glu)
22g.37075165C>ACA411421922TMPRSS6c.1312G>T (p.Val438Leu)
c.1339G>T (p.Val447Leu)
c.880G>T (p.Val294Leu)
22g.37075165C=CA2404171265TMPRSS6c.1312G= (p.Val438=)
c.1339G= (p.Val447=)
c.880G= (p.Val294=)
22g.37075165C>GCA411421924TMPRSS6c.1312G>C (p.Val438Leu)
c.1339G>C (p.Val447Leu)
c.880G>C (p.Val294Leu)
22g.37075165C>TCA411421926TMPRSS6c.1312G>A (p.Val438Met)
c.1339G>A (p.Val447Met)
c.880G>A (p.Val294Met)
dbSNP gnomAD v3 gnomAD v4
22g.37075167dupCA2741716814TMPRSS6c.1312dup (p.Val438GlyfsTer29)
c.1339dup (p.Val447GlyfsTer29)
c.880dup (p.Val294GlyfsTer29)
22g.37075166C>ACA514482525TMPRSS6c.1311G>T (p.Arg437=)
c.1338G>T (p.Arg446=)
c.879G>T (p.Arg293=)
22g.37075166C>GCA514482526TMPRSS6c.1311G>C (p.Arg437=)
c.1338G>C (p.Arg446=)
c.879G>C (p.Arg293=)
22g.37075166C>TCA514482527TMPRSS6c.1311G>A (p.Arg437=)
c.1338G>A (p.Arg446=)
c.879G>A (p.Arg293=)
22g.37075167C>ACA411421928TMPRSS6c.1310G>T (p.Arg437Leu)
c.1337G>T (p.Arg446Leu)
c.878G>T (p.Arg293Leu)
22g.37075167C=CA2404171266TMPRSS6c.1310G= (p.Arg437=)
c.1337G= (p.Arg446=)
c.878G= (p.Arg293=)
22g.37075167C>GCA411421931TMPRSS6c.1310G>C (p.Arg437Pro)
c.1337G>C (p.Arg446Pro)
c.878G>C (p.Arg293Pro)
22g.37075167C>TCA10215663TMPRSS6c.1310G>A (p.Arg437Gln)
c.1337G>A (p.Arg446Gln)
c.878G>A (p.Arg293Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075168G>ACA10215664TMPRSS6c.1309C>T (p.Arg437Trp)
c.1336C>T (p.Arg446Trp)
c.877C>T (p.Arg293Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075168G>CCA411421933TMPRSS6c.1309C>G (p.Arg437Gly)
c.1336C>G (p.Arg446Gly)
c.877C>G (p.Arg293Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.37075168G=CA2404171267TMPRSS6c.1309C= (p.Arg437=)
c.1336C= (p.Arg446=)
c.877C= (p.Arg293=)
22g.37075168G>TCA514482530TMPRSS6c.1309C>A (p.Arg437=)
c.1336C>A (p.Arg446=)
c.877C>A (p.Arg293=)
22g.37075169C>ACA514482531TMPRSS6c.1308G>T (p.Val436=)
c.1335G>T (p.Val445=)
c.876G>T (p.Val292=)
22g.37075169C>GCA514482532TMPRSS6c.1308G>C (p.Val436=)
c.1335G>C (p.Val445=)
c.876G>C (p.Val292=)
22g.37075169C>TCA514482534TMPRSS6c.1308G>A (p.Val436=)
c.1335G>A (p.Val445=)
c.876G>A (p.Val292=)
22g.37075170A>CCA411421936TMPRSS6c.1307T>G (p.Val436Gly)
c.1334T>G (p.Val445Gly)
c.875T>G (p.Val292Gly)
22g.37075170A>GCA411421937TMPRSS6c.1307T>C (p.Val436Ala)
c.1334T>C (p.Val445Ala)
c.875T>C (p.Val292Ala)
22g.37075170A>TCA411421939TMPRSS6c.1307T>A (p.Val436Glu)
c.1334T>A (p.Val445Glu)
c.875T>A (p.Val292Glu)
22g.37075171C>ACA411421943TMPRSS6c.1306G>T (p.Val436Leu)
c.1333G>T (p.Val445Leu)
c.874G>T (p.Val292Leu)
dbSNP
22g.37075171C=CA2404171268TMPRSS6c.1306G= (p.Val436=)
c.1333G= (p.Val445=)
c.874G= (p.Val292=)
22g.37075171C>GCA411421942TMPRSS6c.1306G>C (p.Val436Leu)
c.1333G>C (p.Val445Leu)
c.874G>C (p.Val292Leu)
gnomAD v4
22g.37075171C>TCA10215665TMPRSS6c.1306G>A (p.Val436Met)
c.1333G>A (p.Val445Met)
c.874G>A (p.Val292Met)
dbSNP ExAC gnomAD v3 gnomAD v4
22g.37075172A>CCA514482538TMPRSS6c.1305T>G (p.Gly435=)
c.1332T>G (p.Gly444=)
c.873T>G (p.Gly291=)
22g.37075172A>GCA514482540TMPRSS6c.1305T>C (p.Gly435=)
c.1332T>C (p.Gly444=)
c.873T>C (p.Gly291=)
22g.37075172A>TCA514482542TMPRSS6c.1305T>A (p.Gly435=)
c.1332T>A (p.Gly444=)
c.873T>A (p.Gly291=)
22g.37075173C>ACA411421945TMPRSS6c.1304G>T (p.Gly435Val)
c.1331G>T (p.Gly444Val)
c.872G>T (p.Gly291Val)
22g.37075173C=CA2404171269TMPRSS6c.1304G= (p.Gly435=)
c.1331G= (p.Gly444=)
c.872G= (p.Gly291=)
22g.37075173C>GCA324050216TMPRSS6c.1304G>C (p.Gly435Ala)
c.1331G>C (p.Gly444Ala)
c.872G>C (p.Gly291Ala)
dbSNP gnomAD v2 gnomAD v4
22g.37075173C>TCA411421948TMPRSS6c.1304G>A (p.Gly435Asp)
c.1331G>A (p.Gly444Asp)
c.872G>A (p.Gly291Asp)
22g.37075174C>ACA411421950TMPRSS6c.1303G>T (p.Gly435Cys)
c.1330G>T (p.Gly444Cys)
c.871G>T (p.Gly291Cys)
22g.37075174C=CA2404171270TMPRSS6c.1303G= (p.Gly435=)
c.1330G= (p.Gly444=)
c.871G= (p.Gly291=)
22g.37075174C>GCA411421952TMPRSS6c.1303G>C (p.Gly435Arg)
c.1330G>C (p.Gly444Arg)
c.871G>C (p.Gly291Arg)
22g.37075174C>TCA10215666TMPRSS6c.1303G>A (p.Gly435Ser)
c.1330G>A (p.Gly444Ser)
c.871G>A (p.Gly291Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075175G>ACA514482544TMPRSS6c.1302C>T (p.Pro434=)
c.1329C>T (p.Pro443=)
c.870C>T (p.Pro290=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37075175G>CCA514482545TMPRSS6c.1302C>G (p.Pro434=)
c.1329C>G (p.Pro443=)
c.870C>G (p.Pro290=)
dbSNP gnomAD v2 gnomAD v4
22g.37075175G=CA2404171271TMPRSS6c.1302C= (p.Pro434=)
c.1329C= (p.Pro443=)
c.870C= (p.Pro290=)
22g.37075175G>TCA514482546TMPRSS6c.1302C>A (p.Pro434=)
c.1329C>A (p.Pro443=)
c.870C>A (p.Pro290=)
gnomAD v4
22g.37075176G>ACA411421953TMPRSS6c.1301C>T (p.Pro434Leu)
c.1328C>T (p.Pro443Leu)
c.869C>T (p.Pro290Leu)
22g.37075176G>CCA411421955TMPRSS6c.1301C>G (p.Pro434Arg)
c.1328C>G (p.Pro443Arg)
c.869C>G (p.Pro290Arg)
22g.37075176G>TCA411421954TMPRSS6c.1301C>A (p.Pro434His)
c.1328C>A (p.Pro443His)
c.869C>A (p.Pro290His)
22g.37075177G>ACA411421956TMPRSS6c.1300C>T (p.Pro434Ser)
c.1327C>T (p.Pro443Ser)
c.868C>T (p.Pro290Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37075177G>CCA411421958TMPRSS6c.1300C>G (p.Pro434Ala)
c.1327C>G (p.Pro443Ala)
c.868C>G (p.Pro290Ala)
22g.37075177G=CA2404171272TMPRSS6c.1300C= (p.Pro434=)
c.1327C= (p.Pro443=)
c.868C= (p.Pro290=)
22g.37075177G>TCA411421959TMPRSS6c.1300C>A (p.Pro434Thr)
c.1327C>A (p.Pro443Thr)
c.868C>A (p.Pro290Thr)
22g.37075178C>ACA514482552TMPRSS6c.1299G>T (p.Gly433=)
c.1326G>T (p.Gly442=)
c.867G>T (p.Gly289=)
dbSNP gnomAD v2 gnomAD v4
22g.37075178C=CA2404171273TMPRSS6c.1299G= (p.Gly433=)
c.1326G= (p.Gly442=)
c.867G= (p.Gly289=)
22g.37075178C>GCA514482549TMPRSS6c.1299G>C (p.Gly433=)
c.1326G>C (p.Gly442=)
c.867G>C (p.Gly289=)
22g.37075178C>TCA514482550TMPRSS6c.1299G>A (p.Gly433=)
c.1326G>A (p.Gly442=)
c.867G>A (p.Gly289=)
dbSNP
22g.37075179C>ACA411421961TMPRSS6c.1298G>T (p.Gly433Val)
c.1325G>T (p.Gly442Val)
c.866G>T (p.Gly289Val)
22g.37075179C=CA2404171274TMPRSS6c.1298G= (p.Gly433=)
c.1325G= (p.Gly442=)
c.866G= (p.Gly289=)
22g.37075179C>GCA411421963TMPRSS6c.1298G>C (p.Gly433Ala)
c.1325G>C (p.Gly442Ala)
c.866G>C (p.Gly289Ala)
22g.37075179C>TCA324050228TMPRSS6c.1298G>A (p.Gly433Glu)
c.1325G>A (p.Gly442Glu)
c.866G>A (p.Gly289Glu)
dbSNP
22g.37075180C>ACA411421966TMPRSS6c.1297G>T (p.Gly433Trp)
c.1324G>T (p.Gly442Trp)
c.865G>T (p.Gly289Trp)
22g.37075180C=CA2404171275TMPRSS6c.1297G= (p.Gly433=)
c.1324G= (p.Gly442=)
c.865G= (p.Gly289=)
22g.37075180C>GCA411421967TMPRSS6c.1297G>C (p.Gly433Arg)
c.1324G>C (p.Gly442Arg)
c.865G>C (p.Gly289Arg)
22g.37075180C>TCA114989TMPRSS6c.1297G>A (p.Gly433Arg)
c.1324G>A (p.Gly442Arg)
c.865G>A (p.Gly289Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37075181G>ACA10215667TMPRSS6c.1296C>T (p.Thr432=)
c.1323C>T (p.Thr441=)
c.864C>T (p.Thr288=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075181G>CCA514482554TMPRSS6c.1296C>G (p.Thr432=)
c.1323C>G (p.Thr441=)
c.864C>G (p.Thr288=)
22g.37075181G=CA2404171276TMPRSS6c.1296C= (p.Thr432=)
c.1323C= (p.Thr441=)
c.864C= (p.Thr288=)
22g.37075181G>TCA514482555TMPRSS6c.1296C>A (p.Thr432=)
c.1323C>A (p.Thr441=)
c.864C>A (p.Thr288=)
22g.37075182G>ACA411421972TMPRSS6c.1295C>T (p.Thr432Ile)
c.1322C>T (p.Thr441Ile)
c.863C>T (p.Thr288Ile)
22g.37075182G>CCA411421975TMPRSS6c.1295C>G (p.Thr432Ser)
c.1322C>G (p.Thr441Ser)
c.863C>G (p.Thr288Ser)
22g.37075182G>TCA411421973TMPRSS6c.1295C>A (p.Thr432Asn)
c.1322C>A (p.Thr441Asn)
c.863C>A (p.Thr288Asn)
22g.37075183T>ACA411421978TMPRSS6c.1294A>T (p.Thr432Ser)
c.1321A>T (p.Thr441Ser)
c.862A>T (p.Thr288Ser)
22g.37075183T>CCA411421981TMPRSS6c.1294A>G (p.Thr432Ala)
c.1321A>G (p.Thr441Ala)
c.862A>G (p.Thr288Ala)
22g.37075183T>GCA411421979TMPRSS6c.1294A>C (p.Thr432Pro)
c.1321A>C (p.Thr441Pro)
c.862A>C (p.Thr288Pro)
gnomAD v4
22g.37075184G>ACA514482559TMPRSS6c.1293C>T (p.Leu431=)
c.1320C>T (p.Leu440=)
c.861C>T (p.Leu287=)
22g.37075184G>CCA514482560TMPRSS6c.1293C>G (p.Leu431=)
c.1320C>G (p.Leu440=)
c.861C>G (p.Leu287=)
22g.37075184G>TCA514482561TMPRSS6c.1293C>A (p.Leu431=)
c.1320C>A (p.Leu440=)
c.861C>A (p.Leu287=)
22g.37075185A=CA2404171277TMPRSS6c.1292T= (p.Leu431=)
c.1319T= (p.Leu440=)
c.860T= (p.Leu287=)
22g.37075185A>CCA411421983TMPRSS6c.1292T>G (p.Leu431Arg)
c.1319T>G (p.Leu440Arg)
c.860T>G (p.Leu287Arg)
22g.37075185A>GCA10215668TMPRSS6c.1292T>C (p.Leu431Pro)
c.1319T>C (p.Leu440Pro)
c.860T>C (p.Leu287Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075185A>TCA411421985TMPRSS6c.1292T>A (p.Leu431His)
c.1319T>A (p.Leu440His)
c.860T>A (p.Leu287His)
22g.37075186G>ACA10215670TMPRSS6c.1291C>T (p.Leu431Phe)
c.1318C>T (p.Leu440Phe)
c.859C>T (p.Leu287Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075186G>CCA10215669TMPRSS6c.1291C>G (p.Leu431Val)
c.1318C>G (p.Leu440Val)
c.859C>G (p.Leu287Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075186G=CA2404171278TMPRSS6c.1291C= (p.Leu431=)
c.1318C= (p.Leu440=)
c.859C= (p.Leu287=)
22g.37075186G>TCA411421987TMPRSS6c.1291C>A (p.Leu431Ile)
c.1318C>A (p.Leu440Ile)
c.859C>A (p.Leu287Ile)
22g.37075187G>ACA10215671TMPRSS6c.1290C>T (p.Ser430=)
c.1317C>T (p.Ser439=)
c.858C>T (p.Ser286=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075187G>CCA514482563TMPRSS6c.1290C>G (p.Ser430=)
c.1317C>G (p.Ser439=)
c.858C>G (p.Ser286=)
22g.37075187G=CA2404171279TMPRSS6c.1290C= (p.Ser430=)
c.1317C= (p.Ser439=)
c.858C= (p.Ser286=)
22g.37075187G>TCA514482564TMPRSS6c.1290C>A (p.Ser430=)
c.1317C>A (p.Ser439=)
c.858C>A (p.Ser286=)
22g.37075187_37075188insTTGGGGCAGTCCTTCA2656484732TMPRSS6c.1289_1290insAAGGACTGCCCCAA (p.Leu431ArgfsTer32)
c.1316_1317insAAGGACTGCCCCAA (p.Leu440ArgfsTer32)
c.857_858insAAGGACTGCCCCAA (p.Leu287ArgfsTer32)
gnomAD v4
22g.37075188G>ACA411421989TMPRSS6c.1289C>T (p.Ser430Phe)
c.1316C>T (p.Ser439Phe)
c.857C>T (p.Ser286Phe)
22g.37075188G>CCA411421990TMPRSS6c.1289C>G (p.Ser430Cys)
c.1316C>G (p.Ser439Cys)
c.857C>G (p.Ser286Cys)
22g.37075188G>TCA411421992TMPRSS6c.1289C>A (p.Ser430Tyr)
c.1316C>A (p.Ser439Tyr)
c.857C>A (p.Ser286Tyr)
22g.37075189A=CA2404171280TMPRSS6c.1288T= (p.Ser430=)
c.1315T= (p.Ser439=)
c.856T= (p.Ser286=)
22g.37075189A>CCA411421995TMPRSS6c.1288T>G (p.Ser430Ala)
c.1315T>G (p.Ser439Ala)
c.856T>G (p.Ser286Ala)
22g.37075189A>GCA324050252TMPRSS6c.1288T>C (p.Ser430Pro)
c.1315T>C (p.Ser439Pro)
c.856T>C (p.Ser286Pro)
dbSNP gnomAD v3 gnomAD v4
22g.37075189A>TCA411421997TMPRSS6c.1288T>A (p.Ser430Thr)
c.1315T>A (p.Ser439Thr)
c.856T>A (p.Ser286Thr)
22g.37075189_37075190insCCCCATCACAGGCAGGCA2656484737TMPRSS6c.1287_1288insCCTGCCTGTGATGGGG (p.Ser430ProfsTer?)
c.1314_1315insCCTGCCTGTGATGGGG (p.Ser439ProfsTer?)
c.855_856insCCTGCCTGTGATGGGG (p.Ser286ProfsTer?)
gnomAD v4
22g.37075190G>ACA514482566TMPRSS6c.1287C>T (p.Ile429=)
c.1314C>T (p.Ile438=)
c.855C>T (p.Ile285=)
22g.37075190G>CCA411421999TMPRSS6c.1287C>G (p.Ile429Met)
c.1314C>G (p.Ile438Met)
c.855C>G (p.Ile285Met)
22g.37075190G>TCA514482567TMPRSS6c.1287C>A (p.Ile429=)
c.1314C>A (p.Ile438=)
c.855C>A (p.Ile285=)
22g.37075191A>CCA411422001TMPRSS6c.1286T>G (p.Ile429Ser)
c.1313T>G (p.Ile438Ser)
c.854T>G (p.Ile285Ser)
22g.37075191A>GCA411422002TMPRSS6c.1286T>C (p.Ile429Thr)
c.1313T>C (p.Ile438Thr)
c.854T>C (p.Ile285Thr)
22g.37075191A>TCA411422004TMPRSS6c.1286T>A (p.Ile429Asn)
c.1313T>A (p.Ile438Asn)
c.854T>A (p.Ile285Asn)
22g.37075191_37075192insCACAGAGTCCATTCACAGAACAGAGGAACCA2656484740TMPRSS6c.1285_1286insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile429SerfsTer6)
c.1312_1313insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile438SerfsTer6)
c.853_854insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile285SerfsTer6)
gnomAD v4
22g.37075192T>ACA411422006TMPRSS6c.1285A>T (p.Ile429Phe)
c.1312A>T (p.Ile438Phe)
c.853A>T (p.Ile285Phe)
22g.37075192T>CCA411422007TMPRSS6c.1285A>G (p.Ile429Val)
c.1312A>G (p.Ile438Val)
c.853A>G (p.Ile285Val)
22g.37075192T>GCA411422009TMPRSS6c.1285A>C (p.Ile429Leu)
c.1312A>C (p.Ile438Leu)
c.853A>C (p.Ile285Leu)
22g.37075193C>ACA411422011TMPRSS6c.1284G>T (p.Gln428His)
c.1311G>T (p.Gln437His)
c.852G>T (p.Gln284His)
22g.37075193C>GCA411422013TMPRSS6c.1284G>C (p.Gln428His)
c.1311G>C (p.Gln437His)
c.852G>C (p.Gln284His)
gnomAD v4
22g.37075193C>TCA514482570TMPRSS6c.1284G>A (p.Gln428=)
c.1311G>A (p.Gln437=)
c.852G>A (p.Gln284=)
22g.37075194T>ACA411422015TMPRSS6c.1283A>T (p.Gln428Leu)
c.1310A>T (p.Gln437Leu)
c.851A>T (p.Gln284Leu)
22g.37075194T>CCA411422016TMPRSS6c.1283A>G (p.Gln428Arg)
c.1310A>G (p.Gln437Arg)
c.851A>G (p.Gln284Arg)
22g.37075194T>GCA411422018TMPRSS6c.1283A>C (p.Gln428Pro)
c.1310A>C (p.Gln437Pro)
c.851A>C (p.Gln284Pro)
22g.37075195G>ACA411422024TMPRSS6c.1282C>T (p.Gln428Ter)
c.1309C>T (p.Gln437Ter)
c.850C>T (p.Gln284Ter)
22g.37075195G>CCA411422022TMPRSS6c.1282C>G (p.Gln428Glu)
c.1309C>G (p.Gln437Glu)
c.850C>G (p.Gln284Glu)
22g.37075195G>TCA411422020TMPRSS6c.1282C>A (p.Gln428Lys)
c.1309C>A (p.Gln437Lys)
c.850C>A (p.Gln284Lys)
COSMIC COSMIC
22g.37075196G>ACA514482572TMPRSS6c.1281C>T (p.Ser427=)
c.1308C>T (p.Ser436=)
c.849C>T (p.Ser283=)
22g.37075196G>CCA514482573TMPRSS6c.1281C>G (p.Ser427=)
c.1308C>G (p.Ser436=)
c.849C>G (p.Ser283=)
22g.37075196G>TCA514482574TMPRSS6c.1281C>A (p.Ser427=)
c.1308C>A (p.Ser436=)
c.849C>A (p.Ser283=)
22g.37075197G>ACA324050264TMPRSS6c.1280C>T (p.Ser427Phe)
c.1307C>T (p.Ser436Phe)
c.848C>T (p.Ser283Phe)
dbSNP
22g.37075197G>CCA411422027TMPRSS6c.1280C>G (p.Ser427Cys)
c.1307C>G (p.Ser436Cys)
c.848C>G (p.Ser283Cys)
22g.37075197G=CA2404171281TMPRSS6c.1280C= (p.Ser427=)
c.1307C= (p.Ser436=)
c.848C= (p.Ser283=)
22g.37075197G>TCA411422028TMPRSS6c.1280C>A (p.Ser427Tyr)
c.1307C>A (p.Ser436Tyr)
c.848C>A (p.Ser283Tyr)
22g.37075198A>CCA411422030TMPRSS6c.1279T>G (p.Ser427Ala)
c.1306T>G (p.Ser436Ala)
c.847T>G (p.Ser283Ala)
22g.37075198A>GCA411422032TMPRSS6c.1279T>C (p.Ser427Pro)
c.1306T>C (p.Ser436Pro)
c.847T>C (p.Ser283Pro)
22g.37075198A>TCA411422034TMPRSS6c.1279T>A (p.Ser427Thr)
c.1306T>A (p.Ser436Thr)
c.847T>A (p.Ser283Thr)
22g.37075199G>ACA514482579TMPRSS6c.1278C>T (p.Thr426=)
c.1305C>T (p.Thr435=)
c.846C>T (p.Thr282=)
gnomAD v4
22g.37075199G>CCA514482578TMPRSS6c.1278C>G (p.Thr426=)
c.1305C>G (p.Thr435=)
c.846C>G (p.Thr282=)
22g.37075199G>TCA514482577TMPRSS6c.1278C>A (p.Thr426=)
c.1305C>A (p.Thr435=)
c.846C>A (p.Thr282=)
22g.37075200G>ACA10215672TMPRSS6c.1277C>T (p.Thr426Ile)
c.1304C>T (p.Thr435Ile)
c.845C>T (p.Thr282Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075200G>CCA411422036TMPRSS6c.1277C>G (p.Thr426Ser)
c.1304C>G (p.Thr435Ser)
c.845C>G (p.Thr282Ser)
22g.37075200G=CA2404171282TMPRSS6c.1277C= (p.Thr426=)
c.1304C= (p.Thr435=)
c.845C= (p.Thr282=)
22g.37075200G>TCA411422038TMPRSS6c.1277C>A (p.Thr426Asn)
c.1304C>A (p.Thr435Asn)
c.845C>A (p.Thr282Asn)
22g.37075201T>ACA411422040TMPRSS6c.1276A>T (p.Thr426Ser)
c.1303A>T (p.Thr435Ser)
c.844A>T (p.Thr282Ser)
22g.37075201T>CCA411422042TMPRSS6c.1276A>G (p.Thr426Ala)
c.1303A>G (p.Thr435Ala)
c.844A>G (p.Thr282Ala)
22g.37075201T>GCA411422044TMPRSS6c.1276A>C (p.Thr426Pro)
c.1303A>C (p.Thr435Pro)
c.844A>C (p.Thr282Pro)
22g.37075202G>ACA514482583TMPRSS6c.1275C>T (p.Phe425=)
c.1302C>T (p.Phe434=)
c.843C>T (p.Phe281=)
22g.37075202G>CCA411422045TMPRSS6c.1275C>G (p.Phe425Leu)
c.1302C>G (p.Phe434Leu)
c.843C>G (p.Phe281Leu)
22g.37075202G>TCA411422046TMPRSS6c.1275C>A (p.Phe425Leu)
c.1302C>A (p.Phe434Leu)
c.843C>A (p.Phe281Leu)
22g.37075203A>CCA411422049TMPRSS6c.1274T>G (p.Phe425Cys)
c.1301T>G (p.Phe434Cys)
c.842T>G (p.Phe281Cys)
22g.37075203A>GCA411422051TMPRSS6c.1274T>C (p.Phe425Ser)
c.1301T>C (p.Phe434Ser)
c.842T>C (p.Phe281Ser)
22g.37075203A>TCA411422050TMPRSS6c.1274T>A (p.Phe425Tyr)
c.1301T>A (p.Phe434Tyr)
c.842T>A (p.Phe281Tyr)
22g.37075204A>CCA411422052TMPRSS6c.1273T>G (p.Phe425Val)
c.1300T>G (p.Phe434Val)
c.841T>G (p.Phe281Val)
22g.37075204A>GCA411422054TMPRSS6c.1273T>C (p.Phe425Leu)
c.1300T>C (p.Phe434Leu)
c.841T>C (p.Phe281Leu)
22g.37075204A>TCA411422056TMPRSS6c.1273T>A (p.Phe425Ile)
c.1300T>A (p.Phe434Ile)
c.841T>A (p.Phe281Ile)
22g.37075205G>ACA514482584TMPRSS6c.1272C>T (p.Asn424=)
c.1299C>T (p.Asn433=)
c.840C>T (p.Asn280=)
dbSNP gnomAD v3 gnomAD v4
22g.37075205G>CCA411422058TMPRSS6c.1272C>G (p.Asn424Lys)
c.1299C>G (p.Asn433Lys)
c.840C>G (p.Asn280Lys)
22g.37075205G=CA2404171283TMPRSS6c.1272C= (p.Asn424=)
c.1299C= (p.Asn433=)
c.840C= (p.Asn280=)
22g.37075205G>TCA411422060TMPRSS6c.1272C>A (p.Asn424Lys)
c.1299C>A (p.Asn433Lys)
c.840C>A (p.Asn280Lys)
22g.37075206T>ACA411422062TMPRSS6c.1271A>T (p.Asn424Ile)
c.1298A>T (p.Asn433Ile)
c.839A>T (p.Asn280Ile)
22g.37075206T>CCA411422064TMPRSS6c.1271A>G (p.Asn424Ser)
c.1298A>G (p.Asn433Ser)
c.839A>G (p.Asn280Ser)
22g.37075206T>GCA411422067TMPRSS6c.1271A>C (p.Asn424Thr)
c.1298A>C (p.Asn433Thr)
c.839A>C (p.Asn280Thr)
22g.37075207T>ACA411422069TMPRSS6c.1270A>T (p.Asn424Tyr)
c.1297A>T (p.Asn433Tyr)
c.838A>T (p.Asn280Tyr)
22g.37075207T>CCA411422071TMPRSS6c.1270A>G (p.Asn424Asp)
c.1297A>G (p.Asn433Asp)
c.838A>G (p.Asn280Asp)
22g.37075207T>GCA411422073TMPRSS6c.1270A>C (p.Asn424His)
c.1297A>C (p.Asn433His)
c.838A>C (p.Asn280His)
dbSNP gnomAD v2
22g.37075207T=CA2404171284TMPRSS6c.1270A= (p.Asn424=)
c.1297A= (p.Asn433=)
c.838A= (p.Asn280=)
22g.37075208G>ACA514482586TMPRSS6c.1269C>T (p.Ile423=)
c.1296C>T (p.Ile432=)
c.837C>T (p.Ile279=)
22g.37075208G>CCA411422075TMPRSS6c.1269C>G (p.Ile423Met)
c.1296C>G (p.Ile432Met)
c.837C>G (p.Ile279Met)
22g.37075208G>TCA514482587TMPRSS6c.1269C>A (p.Ile423=)
c.1296C>A (p.Ile432=)
c.837C>A (p.Ile279=)
22g.37075209A>CCA411422078TMPRSS6c.1268T>G (p.Ile423Ser)
c.1295T>G (p.Ile432Ser)
c.836T>G (p.Ile279Ser)
22g.37075209A>GCA411422077TMPRSS6c.1268T>C (p.Ile423Thr)
c.1295T>C (p.Ile432Thr)
c.836T>C (p.Ile279Thr)
22g.37075209A>TCA411422080TMPRSS6c.1268T>A (p.Ile423Asn)
c.1295T>A (p.Ile432Asn)
c.836T>A (p.Ile279Asn)
22g.37075210T>ACA411422082TMPRSS6c.1267A>T (p.Ile423Phe)
c.1294A>T (p.Ile432Phe)
c.835A>T (p.Ile279Phe)
22g.37075210T>CCA411422085TMPRSS6c.1267A>G (p.Ile423Val)
c.1294A>G (p.Ile432Val)
c.835A>G (p.Ile279Val)
22g.37075210T>GCA411422087TMPRSS6c.1267A>C (p.Ile423Leu)
c.1294A>C (p.Ile432Leu)
c.835A>C (p.Ile279Leu)
22g.37075211G>ACA324050272TMPRSS6c.1266C>T (p.Thr422=)
c.1293C>T (p.Thr431=)
c.834C>T (p.Thr278=)
dbSNP
22g.37075211G>CCA514482588TMPRSS6c.1266C>G (p.Thr422=)
c.1293C>G (p.Thr431=)
c.834C>G (p.Thr278=)
22g.37075211G=CA2404171285TMPRSS6c.1266C= (p.Thr422=)
c.1293C= (p.Thr431=)
c.834C= (p.Thr278=)
22g.37075211G>TCA514482589TMPRSS6c.1266C>A (p.Thr422=)
c.1293C>A (p.Thr431=)
c.834C>A (p.Thr278=)
22g.37075212G>ACA411422089TMPRSS6c.1265C>T (p.Thr422Ile)
c.1292C>T (p.Thr431Ile)
c.833C>T (p.Thr278Ile)
dbSNP gnomAD v3 gnomAD v4
22g.37075212G>CCA411422091TMPRSS6c.1265C>G (p.Thr422Ser)
c.1292C>G (p.Thr431Ser)
c.833C>G (p.Thr278Ser)
22g.37075212G=CA2404171286TMPRSS6c.1265C= (p.Thr422=)
c.1292C= (p.Thr431=)
c.833C= (p.Thr278=)
22g.37075212G>TCA411422093TMPRSS6c.1265C>A (p.Thr422Asn)
c.1292C>A (p.Thr431Asn)
c.833C>A (p.Thr278Asn)
22g.37075213T>ACA411422095TMPRSS6c.1264A>T (p.Thr422Ser)
c.1291A>T (p.Thr431Ser)
c.832A>T (p.Thr278Ser)
22g.37075213T>CCA411422097TMPRSS6c.1264A>G (p.Thr422Ala)
c.1291A>G (p.Thr431Ala)
c.832A>G (p.Thr278Ala)
22g.37075213T>GCA411422099TMPRSS6c.1264A>C (p.Thr422Pro)
c.1291A>C (p.Thr431Pro)
c.832A>C (p.Thr278Pro)

Number of alleles fetched