Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304762_152304858del | CA2647993540 | FLG | c.10030_10126del (p.Glu3344GlnfsTer15) c.9108+922_9109-927del (n.9108+922_9109-927del) | gnomAD v4 |
1 | g.152304831_152304848delinsGTGTCTGACTCTTCTGAA | CA2479947667 | FLG | c.10038_10055delinsTTCAGAAGAGTCAGACAC (p.His3346=) c.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC (n.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC) | |
1 | g.152304832_152304837delinsTGTCTG | CA1148399511 | FLG | c.10049_10054delinsCAGACA (p.Ser3350=) c.9108+941_9108+946delinsCAGACA (n.9108+941_9108+946delinsCAGACA) | |
1 | g.152304834_152304837del | CA1103564 | FLG | c.10051_10054del (p.Asp3351HisfsTer?) c.9108+943_9108+946del (n.9108+943_9108+946del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304836_152304852del | CA889396928 | FLG | c.10038_10054del (p.Ser3347ThrfsTer22) c.9108+930_9108+946del (n.9108+930_9108+946del) | dbSNP gnomAD v4 |
1 | g.152304836T>A | CA420927163 | FLG | c.10050A>T (p.Ser3350=) c.9108+942A>T (n.9108+942A>T) | |
1 | g.152304836T>C | CA420927166 | FLG | c.10050A>G (p.Ser3350=) c.9108+942A>G (n.9108+942A>G) | |
1 | g.152304836T>G | CA420927168 | FLG | c.10050A>C (p.Ser3350=) c.9108+942A>C (n.9108+942A>C) | gnomAD v4 |
1 | g.152304837G>A | CA342073536 | FLG | c.10049C>T (p.Ser3350Leu) c.9108+941C>T (n.9108+941C>T) | |
1 | g.152304837G>C | CA342073533 | FLG | c.10049C>G (p.Ser3350Ter) c.9108+941C>G (n.9108+941C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304837G= | CA2479947670 | FLG | c.10049C= (p.Ser3350=) c.9108+941C= (n.9108+941C=) | |
1 | g.152304837G>T | CA342073534 | FLG | c.10049C>A (p.Ser3350Ter) c.9108+941C>A (n.9108+941C>A) | |
1 | g.152304838A= | CA2479947671 | FLG | c.10048T= (p.Ser3350=) c.9108+940T= (n.9108+940T=) | |
1 | g.152304838A>C | CA342073539 | FLG | c.10048T>G (p.Ser3350Ala) c.9108+940T>G (n.9108+940T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304838A>G | CA342073543 | FLG | c.10048T>C (p.Ser3350Pro) c.9108+940T>C (n.9108+940T>C) | |
1 | g.152304838A>T | CA342073552 | FLG | c.10048T>A (p.Ser3350Thr) c.9108+940T>A (n.9108+940T>A) | |
1 | g.152304839C>A | CA342073562 | FLG | c.10047G>T (p.Glu3349Asp) c.9108+939G>T (n.9108+939G>T) | |
1 | g.152304839C= | CA2479947672 | FLG | c.10047G= (p.Glu3349=) c.9108+939G= (n.9108+939G=) | |
1 | g.152304839C>G | CA1103568 | FLG | c.10047G>C (p.Glu3349Asp) c.9108+939G>C (n.9108+939G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304839C>T | CA1103569 | FLG | c.10047G>A (p.Glu3349=) c.9108+939G>A (n.9108+939G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304840T>A | CA342073577 | FLG | c.10046A>T (p.Glu3349Val) c.9108+938A>T (n.9108+938A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304840T>C | CA342073569 | FLG | c.10046A>G (p.Glu3349Gly) c.9108+938A>G (n.9108+938A>G) | |
1 | g.152304840T>G | CA342073566 | FLG | c.10046A>C (p.Glu3349Ala) c.9108+938A>C (n.9108+938A>C) | |
1 | g.152304840T= | CA2479947673 | FLG | c.10046A= (p.Glu3349=) c.9108+938A= (n.9108+938A=) | |
1 | g.152304841C>A | CA342073580 | FLG | c.10045G>T (p.Glu3349Ter) c.9108+937G>T (n.9108+937G>T) | gnomAD v4 |
1 | g.152304841C>G | CA342073581 | FLG | c.10045G>C (p.Glu3349Gln) c.9108+937G>C (n.9108+937G>C) | |
1 | g.152304841C>T | CA342073582 | FLG | c.10045G>A (p.Glu3349Lys) c.9108+937G>A (n.9108+937G>A) | gnomAD v4 |
1 | g.152304842T>A | CA342073588 | FLG | c.10044A>T (p.Glu3348Asp) c.9108+936A>T (n.9108+936A>T) | |
1 | g.152304842T>C | CA1103570 | FLG | c.10044A>G (p.Glu3348=) c.9108+936A>G (n.9108+936A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304842T>G | CA1103571 | FLG | c.10044A>C (p.Glu3348Asp) c.9108+936A>C (n.9108+936A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304842T= | CA2479947674 | FLG | c.10044A= (p.Glu3348=) c.9108+936A= (n.9108+936A=) | |
1 | g.152304843T>A | CA342073595 | FLG | c.10043A>T (p.Glu3348Val) c.9108+935A>T (n.9108+935A>T) | |
1 | g.152304843T>C | CA342073603 | FLG | c.10043A>G (p.Glu3348Gly) c.9108+935A>G (n.9108+935A>G) | |
1 | g.152304843T>G | CA342073599 | FLG | c.10043A>C (p.Glu3348Ala) c.9108+935A>C (n.9108+935A>C) | |
1 | g.152304844C>A | CA342073609 | FLG | c.10042G>T (p.Glu3348Ter) c.9108+934G>T (n.9108+934G>T) | gnomAD v4 |
1 | g.152304844C>G | CA342073612 | FLG | c.10042G>C (p.Glu3348Gln) c.9108+934G>C (n.9108+934G>C) | |
1 | g.152304844C>T | CA342073617 | FLG | c.10042G>A (p.Glu3348Lys) c.9108+934G>A (n.9108+934G>A) | gnomAD v4 |
1 | g.152304845T>A | CA420927194 | FLG | c.10041A>T (p.Ser3347=) c.9108+933A>T (n.9108+933A>T) | |
1 | g.152304845T>C | CA420927192 | FLG | c.10041A>G (p.Ser3347=) c.9108+933A>G (n.9108+933A>G) | |
1 | g.152304845T>G | CA420927193 | FLG | c.10041A>C (p.Ser3347=) c.9108+933A>C (n.9108+933A>C) | |
1 | g.152304846G>A | CA1103572 | FLG | c.10040C>T (p.Ser3347Leu) c.9108+932C>T (n.9108+932C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304846G>C | CA342073622 | FLG | c.10040C>G (p.Ser3347Ter) c.9108+932C>G (n.9108+932C>G) | |
1 | g.152304846G= | CA2479947675 | FLG | c.10040C= (p.Ser3347=) c.9108+932C= (n.9108+932C=) | |
1 | g.152304846G>T | CA342073623 | FLG | c.10040C>A (p.Ser3347Ter) c.9108+932C>A (n.9108+932C>A) | |
1 | g.152304847A= | CA2479947676 | FLG | c.10039T= (p.Ser3347=) c.9108+931T= (n.9108+931T=) | |
1 | g.152304847A>C | CA342073626 | FLG | c.10039T>G (p.Ser3347Ala) c.9108+931T>G (n.9108+931T>G) | |
1 | g.152304847A>G | CA342073629 | FLG | c.10039T>C (p.Ser3347Pro) c.9108+931T>C (n.9108+931T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304847A>T | CA342073636 | FLG | c.10039T>A (p.Ser3347Thr) c.9108+931T>A (n.9108+931T>A) | |
1 | g.152304848del | CA2574057967 | FLG | c.10039del (p.Ser3347GlnfsTer?) c.9108+931del (n.9108+931del) | |
1 | g.152304848A= | CA2479947677 | FLG | c.10038T= (p.His3346=) c.9108+930T= (n.9108+930T=) | |
1 | g.152304848A>C | CA342073638 | FLG | c.10038T>G (p.His3346Gln) c.9108+930T>G (n.9108+930T>G) | |
1 | g.152304848A>G | CA420927203 | FLG | c.10038T>C (p.His3346=) c.9108+930T>C (n.9108+930T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304848A>T | CA342073646 | FLG | c.10038T>A (p.His3346Gln) c.9108+930T>A (n.9108+930T>A) | |
1 | g.152304849T>A | CA342073658 | FLG | c.10037A>T (p.His3346Leu) c.9108+929A>T (n.9108+929A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304849T>C | CA342073651 | FLG | c.10037A>G (p.His3346Arg) c.9108+929A>G (n.9108+929A>G) | |
1 | g.152304849T>G | CA342073654 | FLG | c.10037A>C (p.His3346Pro) c.9108+929A>C (n.9108+929A>C) | |
1 | g.152304849T= | CA2479947678 | FLG | c.10037A= (p.His3346=) c.9108+929A= (n.9108+929A=) | |
1 | g.152304850G>A | CA342073661 | FLG | c.10036C>T (p.His3346Tyr) c.9108+928C>T (n.9108+928C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304850G>C | CA342073675 | FLG | c.10036C>G (p.His3346Asp) c.9108+928C>G (n.9108+928C>G) | gnomAD v4 |
1 | g.152304850G= | CA2479947679 | FLG | c.10036C= (p.His3346=) c.9108+928C= (n.9108+928C=) | |
1 | g.152304850G>T | CA342073672 | FLG | c.10036C>A (p.His3346Asn) c.9108+928C>A (n.9108+928C>A) | gnomAD v4 |
1 | g.152304851T>A | CA420927208 | FLG | c.10035A>T (p.Gly3345=) c.9108+927A>T (n.9108+927A>T) | |
1 | g.152304851T>C | CA420927209 | FLG | c.10035A>G (p.Gly3345=) c.9108+927A>G (n.9108+927A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304851T>G | CA420927210 | FLG | c.10035A>C (p.Gly3345=) c.9108+927A>C (n.9108+927A>C) | gnomAD v4 |
1 | g.152304851T= | CA2479947680 | FLG | c.10035A= (p.Gly3345=) c.9108+927A= (n.9108+927A=) | |
1 | g.152304852C>A | CA342073679 | FLG | c.10034G>T (p.Gly3345Val) c.9108+926G>T (n.9108+926G>T) | |
1 | g.152304852C= | CA1144477662 | FLG | c.10034G= (p.Gly3345=) c.9108+926G= (n.9108+926G=) | |
1 | g.152304852C>G | CA342073682 | FLG | c.10034G>C (p.Gly3345Ala) c.9108+926G>C (n.9108+926G>C) | |
1 | g.152304852C>T | CA30602494 | FLG | c.10034G>A (p.Gly3345Glu) c.9108+926G>A (n.9108+926G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304853C>A | CA342073697 | FLG | c.10033G>T (p.Gly3345Ter) c.9108+925G>T (n.9108+925G>T) | dbSNP gnomAD v4 |
1 | g.152304853C= | CA2479947681 | FLG | c.10033G= (p.Gly3345=) c.9108+925G= (n.9108+925G=) | |
1 | g.152304853C>G | CA342073699 | FLG | c.10033G>C (p.Gly3345Arg) c.9108+925G>C (n.9108+925G>C) | |
1 | g.152304853C>T | CA342073703 | FLG | c.10033G>A (p.Gly3345Arg) c.9108+925G>A (n.9108+925G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304854C>A | CA342073709 | FLG | c.10032G>T (p.Glu3344Asp) c.9108+924G>T (n.9108+924G>T) | |
1 | g.152304854C>G | CA342073713 | FLG | c.10032G>C (p.Glu3344Asp) c.9108+924G>C (n.9108+924G>C) | |
1 | g.152304854C>T | CA420927218 | FLG | c.10032G>A (p.Glu3344=) c.9108+924G>A (n.9108+924G>A) | dbSNP |
1 | g.152304855T>A | CA342073718 | FLG | c.10031A>T (p.Glu3344Val) c.9108+923A>T (n.9108+923A>T) | |
1 | g.152304855T>C | CA342073720 | FLG | c.10031A>G (p.Glu3344Gly) c.9108+923A>G (n.9108+923A>G) | |
1 | g.152304855T>G | CA342073722 | FLG | c.10031A>C (p.Glu3344Ala) c.9108+923A>C (n.9108+923A>C) | dbSNP gnomAD v4 |
1 | g.152304855T= | CA2479947682 | FLG | c.10031A= (p.Glu3344=) c.9108+923A= (n.9108+923A=) | |
1 | g.152304856C>A | CA342073732 | FLG | c.10030G>T (p.Glu3344Ter) c.9108+922G>T (n.9108+922G>T) | |
1 | g.152304856C= | CA2479947683 | FLG | c.10030G= (p.Glu3344=) c.9108+922G= (n.9108+922G=) | |
1 | g.152304856C>G | CA342073726 | FLG | c.10030G>C (p.Glu3344Gln) c.9108+922G>C (n.9108+922G>C) | |
1 | g.152304856C>T | CA1103573 | FLG | c.10030G>A (p.Glu3344Lys) c.9108+922G>A (n.9108+922G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304857A= | CA2479947684 | FLG | c.10029T= (p.Ser3343=) c.9108+921T= (n.9108+921T=) | |
1 | g.152304857A>C | CA342073736 | FLG | c.10029T>G (p.Ser3343Arg) c.9108+921T>G (n.9108+921T>G) | |
1 | g.152304857A>G | CA420927222 | FLG | c.10029T>C (p.Ser3343=) c.9108+921T>C (n.9108+921T>C) | |
1 | g.152304857A>T | CA342073739 | FLG | c.10029T>A (p.Ser3343Arg) c.9108+921T>A (n.9108+921T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304858C>A | CA342073744 | FLG | c.10028G>T (p.Ser3343Ile) c.9108+920G>T (n.9108+920G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304858C= | CA2479947685 | FLG | c.10028G= (p.Ser3343=) c.9108+920G= (n.9108+920G=) | |
1 | g.152304858C>G | CA342073746 | FLG | c.10028G>C (p.Ser3343Thr) c.9108+920G>C (n.9108+920G>C) | gnomAD v4 |
1 | g.152304858C>T | CA1103574 | FLG | c.10028G>A (p.Ser3343Asn) c.9108+920G>A (n.9108+920G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304859T>A | CA342073753 | FLG | c.10027A>T (p.Ser3343Cys) c.9108+919A>T (n.9108+919A>T) | |
1 | g.152304859T>C | CA1103575 | FLG | c.10027A>G (p.Ser3343Gly) c.9108+919A>G (n.9108+919A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304859T>G | CA342073756 | FLG | c.10027A>C (p.Ser3343Arg) c.9108+919A>C (n.9108+919A>C) | |
1 | g.152304859T= | CA2479947686 | FLG | c.10027A= (p.Ser3343=) c.9108+919A= (n.9108+919A=) | |
1 | g.152304860A= | CA1143900182 | FLG | c.10026T= (p.Asp3342=) c.9108+918T= (n.9108+918T=) | |
1 | g.152304860A>C | CA342073759 | FLG | c.10026T>G (p.Asp3342Glu) c.9108+918T>G (n.9108+918T>G) | |
1 | g.152304860A>G | CA1103576 | FLG | c.10026T>C (p.Asp3342=) c.9108+918T>C (n.9108+918T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304860A>T | CA342073764 | FLG | c.10026T>A (p.Asp3342Glu) c.9108+918T>A (n.9108+918T>A) | |
1 | g.152304861T>A | CA342073776 | FLG | c.10025A>T (p.Asp3342Val) c.9108+917A>T (n.9108+917A>T) | |
1 | g.152304861T>C | CA342073773 | FLG | c.10025A>G (p.Asp3342Gly) c.9108+917A>G (n.9108+917A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304861T>G | CA342073769 | FLG | c.10025A>C (p.Asp3342Ala) c.9108+917A>C (n.9108+917A>C) | |
1 | g.152304861T= | CA2479947687 | FLG | c.10025A= (p.Asp3342=) c.9108+917A= (n.9108+917A=) | |
1 | g.152304862C>A | CA342073784 | FLG | c.10024G>T (p.Asp3342Tyr) c.9108+916G>T (n.9108+916G>T) | |
1 | g.152304862C>G | CA342073778 | FLG | c.10024G>C (p.Asp3342His) c.9108+916G>C (n.9108+916G>C) | |
1 | g.152304862C>T | CA342073781 | FLG | c.10024G>A (p.Asp3342Asn) c.9108+916G>A (n.9108+916G>A) | gnomAD v4 |
1 | g.152304863A= | CA2479947688 | FLG | c.10023T= (p.Ser3341=) c.9108+915T= (n.9108+915T=) | |
1 | g.152304863A>C | CA342073788 | FLG | c.10023T>G (p.Ser3341Arg) c.9108+915T>G (n.9108+915T>G) | |
1 | g.152304863A>G | CA420927233 | FLG | c.10023T>C (p.Ser3341=) c.9108+915T>C (n.9108+915T>C) | |
1 | g.152304863A>T | CA1103577 | FLG | c.10023T>A (p.Ser3341Arg) c.9108+915T>A (n.9108+915T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304864C>A | CA342073794 | FLG | c.10022G>T (p.Ser3341Ile) c.9108+914G>T (n.9108+914G>T) | |
1 | g.152304864C>G | CA342073796 | FLG | c.10022G>C (p.Ser3341Thr) c.9108+914G>C (n.9108+914G>C) | gnomAD v4 |
1 | g.152304864C>T | CA342073798 | FLG | c.10022G>A (p.Ser3341Asn) c.9108+914G>A (n.9108+914G>A) | |
1 | g.152304865T>A | CA342073800 | FLG | c.10021A>T (p.Ser3341Cys) c.9108+913A>T (n.9108+913A>T) | |
1 | g.152304865T>C | CA1103578 | FLG | c.10021A>G (p.Ser3341Gly) c.9108+913A>G (n.9108+913A>G) | dbSNP ExAC gnomAD v2 |
1 | g.152304865T>G | CA342073805 | FLG | c.10021A>C (p.Ser3341Arg) c.9108+913A>C (n.9108+913A>C) | |
1 | g.152304865T= | CA2479947689 | FLG | c.10021A= (p.Ser3341=) c.9108+913A= (n.9108+913A=) | |
1 | g.152304866G>A | CA420927237 | FLG | c.10020C>T (p.Ala3340=) c.9108+912C>T (n.9108+912C>T) | |
1 | g.152304866G>C | CA420927240 | FLG | c.10020C>G (p.Ala3340=) c.9108+912C>G (n.9108+912C>G) | |
1 | g.152304866G>T | CA420927238 | FLG | c.10020C>A (p.Ala3340=) c.9108+912C>A (n.9108+912C>A) | |
1 | g.152304867G>A | CA30602533 | FLG | c.10019C>T (p.Ala3340Val) c.9108+911C>T (n.9108+911C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304867G>C | CA342073819 | FLG | c.10019C>G (p.Ala3340Gly) c.9108+911C>G (n.9108+911C>G) | |
1 | g.152304867G= | CA1149135816 | FLG | c.10019C= (p.Ala3340=) c.9108+911C= (n.9108+911C=) | |
1 | g.152304867G>T | CA1103580 | FLG | c.10019C>A (p.Ala3340Asp) c.9108+911C>A (n.9108+911C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304867_152304868delinsGC | CA2479947690 | FLG | c.10018_10019delinsGC (p.Ala3340=) c.9108+910_9108+911delinsGC (n.9108+910_9108+911delinsGC) | |
1 | g.152304868C>A | CA342073837 | FLG | c.10018G>T (p.Ala3340Ser) c.9108+910G>T (n.9108+910G>T) | |
1 | g.152304868C>G | CA342073835 | FLG | c.10018G>C (p.Ala3340Pro) c.9108+910G>C (n.9108+910G>C) | gnomAD v4 |
1 | g.152304868C>T | CA342073836 | FLG | c.10018G>A (p.Ala3340Thr) c.9108+910G>A (n.9108+910G>A) | gnomAD v4 |
1 | g.152304869del | CA1103579 | FLG | c.10018del (p.Ala3340ProfsTer?) c.9108+910del (n.9108+910del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304869C>A | CA342073839 | FLG | c.10017G>T (p.Gln3339His) c.9108+909G>T (n.9108+909G>T) | |
1 | g.152304869C= | CA1139911796 | FLG | c.10017G= (p.Gln3339=) c.9108+909G= (n.9108+909G=) | |
1 | g.152304869C>G | CA342073840 | FLG | c.10017G>C (p.Gln3339His) c.9108+909G>C (n.9108+909G>C) | |
1 | g.152304869C>T | CA1103581 | FLG | c.10017G>A (p.Gln3339=) c.9108+909G>A (n.9108+909G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304870T>A | CA342073845 | FLG | c.10016A>T (p.Gln3339Leu) c.9108+908A>T (n.9108+908A>T) | |
1 | g.152304870T>C | CA342073857 | FLG | c.10016A>G (p.Gln3339Arg) c.9108+908A>G (n.9108+908A>G) | |
1 | g.152304870T>G | CA342073870 | FLG | c.10016A>C (p.Gln3339Pro) c.9108+908A>C (n.9108+908A>C) | |
1 | g.152304871G>A | CA342073874 | FLG | c.10015C>T (p.Gln3339Ter) c.9108+907C>T (n.9108+907C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304871G>C | CA342073877 | FLG | c.10015C>G (p.Gln3339Glu) c.9108+907C>G (n.9108+907C>G) | |
1 | g.152304871G= | CA2479947691 | FLG | c.10015C= (p.Gln3339=) c.9108+907C= (n.9108+907C=) | |
1 | g.152304871G>T | CA342073879 | FLG | c.10015C>A (p.Gln3339Lys) c.9108+907C>A (n.9108+907C>A) | |
1 | g.152304872A>C | CA342073884 | FLG | c.10014T>G (p.Ser3338Arg) c.9108+906T>G (n.9108+906T>G) | |
1 | g.152304872A>G | CA420927256 | FLG | c.10014T>C (p.Ser3338=) c.9108+906T>C (n.9108+906T>C) | gnomAD v3 gnomAD v4 |
1 | g.152304872A>T | CA342073888 | FLG | c.10014T>A (p.Ser3338Arg) c.9108+906T>A (n.9108+906T>A) | gnomAD v4 |
1 | g.152304873C>A | CA342073899 | FLG | c.10013G>T (p.Ser3338Ile) c.9108+905G>T (n.9108+905G>T) | |
1 | g.152304873C= | CA2479947692 | FLG | c.10013G= (p.Ser3338=) c.9108+905G= (n.9108+905G=) | |
1 | g.152304873C>G | CA342073892 | FLG | c.10013G>C (p.Ser3338Thr) c.9108+905G>C (n.9108+905G>C) | gnomAD v4 |
1 | g.152304873C>T | CA342073891 | FLG | c.10013G>A (p.Ser3338Asn) c.9108+905G>A (n.9108+905G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304873_152304874delinsCT | CA2479947693 | FLG | c.10012_10013delinsAG (p.Ser3338=) c.9108+904_9108+905delinsAG (n.9108+904_9108+905delinsAG) | |
1 | g.152304874del | CA526662133 | FLG | c.10012del (p.Ser3338ValfsTer?) c.9108+904del (n.9108+904del) | dbSNP gnomAD v2 |
1 | g.152304874T>A | CA342073902 | FLG | c.10012A>T (p.Ser3338Cys) c.9108+904A>T (n.9108+904A>T) | ClinVar dbSNP |
1 | g.152304874T>C | CA342073914 | FLG | c.10012A>G (p.Ser3338Gly) c.9108+904A>G (n.9108+904A>G) | |
1 | g.152304874T>G | CA342073910 | FLG | c.10012A>C (p.Ser3338Arg) c.9108+904A>C (n.9108+904A>C) | |
1 | g.152304874T= | CA2479947694 | FLG | c.10012A= (p.Ser3338=) c.9108+904A= (n.9108+904A=) | |
1 | g.152304875A= | CA2479947695 | FLG | c.10011T= (p.Gly3337=) c.9108+903T= (n.9108+903T=) | |
1 | g.152304875A>C | CA420927266 | FLG | c.10011T>G (p.Gly3337=) c.9108+903T>G (n.9108+903T>G) | |
1 | g.152304875A>G | CA1103582 | FLG | c.10011T>C (p.Gly3337=) c.9108+903T>C (n.9108+903T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304875A>T | CA420927267 | FLG | c.10011T>A (p.Gly3337=) c.9108+903T>A (n.9108+903T>A) | |
1 | g.152304876C>A | CA342073924 | FLG | c.10010G>T (p.Gly3337Val) c.9108+902G>T (n.9108+902G>T) | |
1 | g.152304876C= | CA2479947696 | FLG | c.10010G= (p.Gly3337=) c.9108+902G= (n.9108+902G=) | |
1 | g.152304876C>G | CA342073933 | FLG | c.10010G>C (p.Gly3337Ala) c.9108+902G>C (n.9108+902G>C) | |
1 | g.152304876C>T | CA342073936 | FLG | c.10010G>A (p.Gly3337Asp) c.9108+902G>A (n.9108+902G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304877C>A | CA342073939 | FLG | c.10009G>T (p.Gly3337Cys) c.9108+901G>T (n.9108+901G>T) | |
1 | g.152304877C>G | CA342073941 | FLG | c.10009G>C (p.Gly3337Arg) c.9108+901G>C (n.9108+901G>C) | |
1 | g.152304877C>T | CA342073944 | FLG | c.10009G>A (p.Gly3337Ser) c.9108+901G>A (n.9108+901G>A) | |
1 | g.152304878del | CA2647993550 | FLG | c.10008del (p.Ser3336ArgfsTer?) c.9108+900del (n.9108+900del) | gnomAD v4 |
1 | g.152304878A= | CA2479947697 | FLG | c.10008T= (p.Ser3336=) c.9108+900T= (n.9108+900T=) | |
1 | g.152304878A>C | CA342073946 | FLG | c.10008T>G (p.Ser3336Arg) c.9108+900T>G (n.9108+900T>G) | |
1 | g.152304878A>G | CA420927278 | FLG | c.10008T>C (p.Ser3336=) c.9108+900T>C (n.9108+900T>C) | dbSNP gnomAD v4 |
1 | g.152304878A>T | CA342073949 | FLG | c.10008T>A (p.Ser3336Arg) c.9108+900T>A (n.9108+900T>A) | |
1 | g.152304879C>A | CA342073960 | FLG | c.10007G>T (p.Ser3336Ile) c.9108+899G>T (n.9108+899G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304879C= | CA2479947698 | FLG | c.10007G= (p.Ser3336=) c.9108+899G= (n.9108+899G=) | |
1 | g.152304879C>G | CA342073963 | FLG | c.10007G>C (p.Ser3336Thr) c.9108+899G>C (n.9108+899G>C) | |
1 | g.152304879C>T | CA342073966 | FLG | c.10007G>A (p.Ser3336Asn) c.9108+899G>A (n.9108+899G>A) | |
1 | g.152304880T>A | CA342073977 | FLG | c.10006A>T (p.Ser3336Cys) c.9108+898A>T (n.9108+898A>T) | gnomAD v4 |
1 | g.152304880T>C | CA342073974 | FLG | c.10006A>G (p.Ser3336Gly) c.9108+898A>G (n.9108+898A>G) | |
1 | g.152304880T>G | CA342073976 | FLG | c.10006A>C (p.Ser3336Arg) c.9108+898A>C (n.9108+898A>C) | gnomAD v4 |
1 | g.152304881G>A | CA420927281 | FLG | c.10005C>T (p.Ser3335=) c.9108+897C>T (n.9108+897C>T) | |
1 | g.152304881G>C | CA420927282 | FLG | c.10005C>G (p.Ser3335=) c.9108+897C>G (n.9108+897C>G) | dbSNP |
1 | g.152304881G= | CA2479947699 | FLG | c.10005C= (p.Ser3335=) c.9108+897C= (n.9108+897C=) | |
1 | g.152304881G>T | CA420927283 | FLG | c.10005C>A (p.Ser3335=) c.9108+897C>A (n.9108+897C>A) | |
1 | g.152304882G>A | CA1103584 | FLG | c.10004C>T (p.Ser3335Phe) c.9108+896C>T (n.9108+896C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304882G>C | CA342073984 | FLG | c.10004C>G (p.Ser3335Cys) c.9108+896C>G (n.9108+896C>G) | |
1 | g.152304882G= | CA1144119384 | FLG | c.10004C= (p.Ser3335=) c.9108+896C= (n.9108+896C=) | |
1 | g.152304882G>T | CA1103583 | FLG | c.10004C>A (p.Ser3335Tyr) c.9108+896C>A (n.9108+896C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304883A= | CA2479947701 | FLG | c.10003T= (p.Ser3335=) c.9108+895T= (n.9108+895T=) | |
1 | g.152304883A>C | CA342073992 | FLG | c.10003T>G (p.Ser3335Ala) c.9108+895T>G (n.9108+895T>G) | dbSNP |
1 | g.152304883A>G | CA342073993 | FLG | c.10003T>C (p.Ser3335Pro) c.9108+895T>C (n.9108+895T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304883A>T | CA342074010 | FLG | c.10003T>A (p.Ser3335Thr) c.9108+895T>A (n.9108+895T>A) | |
1 | g.152304883_152304884delinsAC | CA2479947700 | FLG | c.10002_10003delinsGT (p.Gly3334=) c.9108+894_9108+895delinsGT (n.9108+894_9108+895delinsGT) | |
1 | g.152304884C>A | CA1103586 | FLG | c.10002G>T (p.Gly3334=) c.9108+894G>T (n.9108+894G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304884C= | CA2479947702 | FLG | c.10002G= (p.Gly3334=) c.9108+894G= (n.9108+894G=) | |
1 | g.152304884C>G | CA420927296 | FLG | c.10002G>C (p.Gly3334=) c.9108+894G>C (n.9108+894G>C) | |
1 | g.152304884C>T | CA420927298 | FLG | c.10002G>A (p.Gly3334=) c.9108+894G>A (n.9108+894G>A) | dbSNP |
1 | g.152304888dup | CA2647993551 | FLG | c.10002dup (p.Ser3335ValfsTer4) c.9108+894dup (n.9108+894dup) | gnomAD v4 |
1 | g.152304888del | CA1103585 | FLG | c.10002del (p.Ser3335ProfsTer?) c.9108+894del (n.9108+894del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304885C>A | CA1103587 | FLG | c.10001G>T (p.Gly3334Val) c.9108+893G>T (n.9108+893G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304885C= | CA1148434217 | FLG | c.10001G= (p.Gly3334=) c.9108+893G= (n.9108+893G=) | |
1 | g.152304885C>G | CA342074016 | FLG | c.10001G>C (p.Gly3334Ala) c.9108+893G>C (n.9108+893G>C) | gnomAD v4 |
1 | g.152304885C>T | CA1103588 | FLG | c.10001G>A (p.Gly3334Glu) c.9108+893G>A (n.9108+893G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304886C>A | CA1103589 | FLG | c.10000G>T (p.Gly3334Trp) c.9108+892G>T (n.9108+892G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304886C= | CA2479947703 | FLG | c.10000G= (p.Gly3334=) c.9108+892G= (n.9108+892G=) | |
1 | g.152304886C>G | CA342074027 | FLG | c.10000G>C (p.Gly3334Arg) c.9108+892G>C (n.9108+892G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304886C>T | CA342074023 | FLG | c.10000G>A (p.Gly3334Arg) c.9108+892G>A (n.9108+892G>A) | |
1 | g.152304887C>A | CA342074038 | FLG | c.9999G>T (p.Trp3333Cys) c.9108+891G>T (n.9108+891G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304887C= | CA2479947704 | FLG | c.9999G= (p.Trp3333=) c.9108+891G= (n.9108+891G=) | |
1 | g.152304887C>G | CA342074034 | FLG | c.9999G>C (p.Trp3333Cys) c.9108+891G>C (n.9108+891G>C) | |
1 | g.152304887C>T | CA1103590 | FLG | c.9999G>A (p.Trp3333Ter) c.9108+891G>A (n.9108+891G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304888C>A | CA342074040 | FLG | c.9998G>T (p.Trp3333Leu) c.9108+890G>T (n.9108+890G>T) | dbSNP gnomAD v4 |
1 | g.152304888C= | CA2479947705 | FLG | c.9998G= (p.Trp3333=) c.9108+890G= (n.9108+890G=) | |
1 | g.152304888C>G | CA342074043 | FLG | c.9998G>C (p.Trp3333Ser) c.9108+890G>C (n.9108+890G>C) | |
1 | g.152304888C>T | CA342074044 | FLG | c.9998G>A (p.Trp3333Ter) c.9108+890G>A (n.9108+890G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304889A= | CA2479947706 | FLG | c.9997T= (p.Trp3333=) c.9108+889T= (n.9108+889T=) | |
1 | g.152304889A>C | CA342074047 | FLG | c.9997T>G (p.Trp3333Gly) c.9108+889T>G (n.9108+889T>G) | dbSNP gnomAD v4 |
1 | g.152304889A>G | CA1103591 | FLG | c.9997T>C (p.Trp3333Arg) c.9108+889T>C (n.9108+889T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304889A>T | CA1103592 | FLG | c.9997T>A (p.Trp3333Arg) c.9108+889T>A (n.9108+889T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304890G>A | CA420927326 | FLG | c.9996C>T (p.His3332=) c.9108+888C>T (n.9108+888C>T) | |
1 | g.152304890G>C | CA1103593 | FLG | c.9996C>G (p.His3332Gln) c.9108+888C>G (n.9108+888C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304890G= | CA1141710136 | FLG | c.9996C= (p.His3332=) c.9108+888C= (n.9108+888C=) | |
1 | g.152304890G>T | CA342074058 | FLG | c.9996C>A (p.His3332Gln) c.9108+888C>A (n.9108+888C>A) | |
1 | g.152304891T>A | CA342074062 | FLG | c.9995A>T (p.His3332Leu) c.9108+887A>T (n.9108+887A>T) | |
1 | g.152304891T>C | CA342074063 | FLG | c.9995A>G (p.His3332Arg) c.9108+887A>G (n.9108+887A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304891T>G | CA342074064 | FLG | c.9995A>C (p.His3332Pro) c.9108+887A>C (n.9108+887A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304891T= | CA2479947707 | FLG | c.9995A= (p.His3332=) c.9108+887A= (n.9108+887A=) | |
1 | g.152304892G>A | CA342074070 | FLG | c.9994C>T (p.His3332Tyr) c.9108+886C>T (n.9108+886C>T) | gnomAD v4 |
1 | g.152304892G>C | CA342074065 | FLG | c.9994C>G (p.His3332Asp) c.9108+886C>G (n.9108+886C>G) | |
1 | g.152304892G>T | CA342074068 | FLG | c.9994C>A (p.His3332Asn) c.9108+886C>A (n.9108+886C>A) | gnomAD v4 |
1 | g.152304893T>A | CA342074073 | FLG | c.9993A>T (p.Arg3331Ser) c.9108+885A>T (n.9108+885A>T) | |
1 | g.152304893T>C | CA420927350 | FLG | c.9993A>G (p.Arg3331=) c.9108+885A>G (n.9108+885A>G) | |
1 | g.152304893T>G | CA342074076 | FLG | c.9993A>C (p.Arg3331Ser) c.9108+885A>C (n.9108+885A>C) | |
1 | g.152304894C>A | CA342074082 | FLG | c.9992G>T (p.Arg3331Ile) c.9108+884G>T (n.9108+884G>T) | |
1 | g.152304894C>G | CA342074085 | FLG | c.9992G>C (p.Arg3331Thr) c.9108+884G>C (n.9108+884G>C) | |
1 | g.152304894C>T | CA342074088 | FLG | c.9992G>A (p.Arg3331Lys) c.9108+884G>A (n.9108+884G>A) | |
1 | g.152304895T>A | CA342074092 | FLG | c.9991A>T (p.Arg3331Ter) c.9108+883A>T (n.9108+883A>T) | |
1 | g.152304895T>C | CA1103594 | FLG | c.9991A>G (p.Arg3331Gly) c.9108+883A>G (n.9108+883A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304895T>G | CA420927359 | FLG | c.9991A>C (p.Arg3331=) c.9108+883A>C (n.9108+883A>C) | |
1 | g.152304895T= | CA1142044582 | FLG | c.9991A= (p.Arg3331=) c.9108+883A= (n.9108+883A=) | |
1 | g.152304896A= | CA2479947708 | FLG | c.9990T= (p.Ser3330=) c.9108+882T= (n.9108+882T=) | |
1 | g.152304896A>C | CA342074097 | FLG | c.9990T>G (p.Ser3330Arg) c.9108+882T>G (n.9108+882T>G) | |
1 | g.152304896A>G | CA1103595 | FLG | c.9990T>C (p.Ser3330=) c.9108+882T>C (n.9108+882T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304896A>T | CA342074105 | FLG | c.9990T>A (p.Ser3330Arg) c.9108+882T>A (n.9108+882T>A) | |
1 | g.152304897C>A | CA342074108 | FLG | c.9989G>T (p.Ser3330Ile) c.9108+881G>T (n.9108+881G>T) | |
1 | g.152304897C= | CA2479947709 | FLG | c.9989G= (p.Ser3330=) c.9108+881G= (n.9108+881G=) | |
1 | g.152304897C>G | CA342074112 | FLG | c.9989G>C (p.Ser3330Thr) c.9108+881G>C (n.9108+881G>C) | dbSNP |
1 | g.152304897C>T | CA342074121 | FLG | c.9989G>A (p.Ser3330Asn) c.9108+881G>A (n.9108+881G>A) | dbSNP |
1 | g.152304898T>A | CA342074129 | FLG | c.9988A>T (p.Ser3330Cys) c.9108+880A>T (n.9108+880A>T) | gnomAD v4 |
1 | g.152304898T>C | CA30602602 | FLG | c.9988A>G (p.Ser3330Gly) c.9108+880A>G (n.9108+880A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304898T>G | CA342074126 | FLG | c.9988A>C (p.Ser3330Arg) c.9108+880A>C (n.9108+880A>C) | |
1 | g.152304898T= | CA1141292970 | FLG | c.9988A= (p.Ser3330=) c.9108+880A= (n.9108+880A=) | |
1 | g.152304899G>A | CA420926645 | FLG | c.9987C>T (p.Asp3329=) c.9108+879C>T (n.9108+879C>T) | |
1 | g.152304899G>C | CA342074138 | FLG | c.9987C>G (p.Asp3329Glu) c.9108+879C>G (n.9108+879C>G) | gnomAD v4 COSMIC |
1 | g.152304899G= | CA2479947710 | FLG | c.9987C= (p.Asp3329=) c.9108+879C= (n.9108+879C=) | |
1 | g.152304899G>T | CA342074142 | FLG | c.9987C>A (p.Asp3329Glu) c.9108+879C>A (n.9108+879C>A) | dbSNP |
1 | g.152304900T>A | CA342074143 | FLG | c.9986A>T (p.Asp3329Val) c.9108+878A>T (n.9108+878A>T) | |
1 | g.152304900T>C | CA342074144 | FLG | c.9986A>G (p.Asp3329Gly) c.9108+878A>G (n.9108+878A>G) | dbSNP gnomAD v4 |
1 | g.152304900T>G | CA342074145 | FLG | c.9986A>C (p.Asp3329Ala) c.9108+878A>C (n.9108+878A>C) | |
1 | g.152304900T= | CA2479947711 | FLG | c.9986A= (p.Asp3329=) c.9108+878A= (n.9108+878A=) | |
1 | g.152304901C>A | CA342074146 | FLG | c.9985G>T (p.Asp3329Tyr) c.9108+877G>T (n.9108+877G>T) | gnomAD v4 |
1 | g.152304901C= | CA2479947712 | FLG | c.9985G= (p.Asp3329=) c.9108+877G= (n.9108+877G=) | |
1 | g.152304901C>G | CA1103596 | FLG | c.9985G>C (p.Asp3329His) c.9108+877G>C (n.9108+877G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304901C>T | CA342074148 | FLG | c.9985G>A (p.Asp3329Asn) c.9108+877G>A (n.9108+877G>A) | |
1 | g.152304902T>A | CA342074151 | FLG | c.9984A>T (p.Arg3328Ser) c.9108+876A>T (n.9108+876A>T) | |
1 | g.152304902T>C | CA420926652 | FLG | c.9984A>G (p.Arg3328=) c.9108+876A>G (n.9108+876A>G) | |
1 | g.152304902T>G | CA342074154 | FLG | c.9984A>C (p.Arg3328Ser) c.9108+876A>C (n.9108+876A>C) | |
1 | g.152304903C>A | CA342074158 | FLG | c.9983G>T (p.Arg3328Ile) c.9108+875G>T (n.9108+875G>T) | |
1 | g.152304903C>G | CA342074167 | FLG | c.9983G>C (p.Arg3328Thr) c.9108+875G>C (n.9108+875G>C) | |
1 | g.152304903C>T | CA342074170 | FLG | c.9983G>A (p.Arg3328Lys) c.9108+875G>A (n.9108+875G>A) | dbSNP gnomAD v4 |
1 | g.152304904T>A | CA342074173 | FLG | c.9982A>T (p.Arg3328Ter) c.9108+874A>T (n.9108+874A>T) | |
1 | g.152304904T>C | CA342074174 | FLG | c.9982A>G (p.Arg3328Gly) c.9108+874A>G (n.9108+874A>G) | |
1 | g.152304904T>G | CA420926658 | FLG | c.9982A>C (p.Arg3328=) c.9108+874A>C (n.9108+874A>C) | |
1 | g.152304905G>A | CA420926659 | FLG | c.9981C>T (p.Val3327=) c.9108+873C>T (n.9108+873C>T) | |
1 | g.152304905G>C | CA420926661 | FLG | c.9981C>G (p.Val3327=) c.9108+873C>G (n.9108+873C>G) | |
1 | g.152304905G>T | CA420926663 | FLG | c.9981C>A (p.Val3327=) c.9108+873C>A (n.9108+873C>A) | |
1 | g.152304906A= | CA2479947713 | FLG | c.9980T= (p.Val3327=) c.9108+872T= (n.9108+872T=) | |
1 | g.152304906A>C | CA342074175 | FLG | c.9980T>G (p.Val3327Gly) c.9108+872T>G (n.9108+872T>G) | |
1 | g.152304906A>G | CA342074180 | FLG | c.9980T>C (p.Val3327Ala) c.9108+872T>C (n.9108+872T>C) | |
1 | g.152304906A>T | CA342074177 | FLG | c.9980T>A (p.Val3327Asp) c.9108+872T>A (n.9108+872T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304907C>A | CA1103597 | FLG | c.9979G>T (p.Val3327Phe) c.9108+871G>T (n.9108+871G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304907C= | CA2479947714 | FLG | c.9979G= (p.Val3327=) c.9108+871G= (n.9108+871G=) | |
1 | g.152304907C>G | CA342074190 | FLG | c.9979G>C (p.Val3327Leu) c.9108+871G>C (n.9108+871G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304907C>T | CA342074205 | FLG | c.9979G>A (p.Val3327Ile) c.9108+871G>A (n.9108+871G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304908T>A | CA420926668 | FLG | c.9978A>T (p.Ala3326=) c.9108+870A>T (n.9108+870A>T) | |
1 | g.152304908T>C | CA420926669 | FLG | c.9978A>G (p.Ala3326=) c.9108+870A>G (n.9108+870A>G) | |
1 | g.152304908T>G | CA420926672 | FLG | c.9978A>C (p.Ala3326=) c.9108+870A>C (n.9108+870A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304908T= | CA2479947715 | FLG | c.9978A= (p.Ala3326=) c.9108+870A= (n.9108+870A=) | |
1 | g.152304909G>A | CA1103598 | FLG | c.9977C>T (p.Ala3326Val) c.9108+869C>T (n.9108+869C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304909G>C | CA342074208 | FLG | c.9977C>G (p.Ala3326Gly) c.9108+869C>G (n.9108+869C>G) | gnomAD v4 |
1 | g.152304909G= | CA2479947716 | FLG | c.9977C= (p.Ala3326=) c.9108+869C= (n.9108+869C=) | |
1 | g.152304909G>T | CA342074211 | FLG | c.9977C>A (p.Ala3326Glu) c.9108+869C>A (n.9108+869C>A) | |
1 | g.152304910C>A | CA342074217 | FLG | c.9976G>T (p.Ala3326Ser) c.9108+868G>T (n.9108+868G>T) | |
1 | g.152304910C>G | CA342074220 | FLG | c.9976G>C (p.Ala3326Pro) c.9108+868G>C (n.9108+868G>C) | |
1 | g.152304910C>T | CA342074222 | FLG | c.9976G>A (p.Ala3326Thr) c.9108+868G>A (n.9108+868G>A) | gnomAD v4 |
1 | g.152304911A= | CA2479947717 | FLG | c.9975T= (p.Ser3325=) c.9108+867T= (n.9108+867T=) | |
1 | g.152304911A>C | CA420926675 | FLG | c.9975T>G (p.Ser3325=) c.9108+867T>G (n.9108+867T>G) | dbSNP |
1 | g.152304911A>G | CA420926677 | FLG | c.9975T>C (p.Ser3325=) c.9108+867T>C (n.9108+867T>C) | |
1 | g.152304911A>T | CA420926679 | FLG | c.9975T>A (p.Ser3325=) c.9108+867T>A (n.9108+867T>A) | gnomAD v4 |
1 | g.152304912G>A | CA342074235 | FLG | c.9974C>T (p.Ser3325Phe) c.9108+866C>T (n.9108+866C>T) | |
1 | g.152304912G>C | CA342074237 | FLG | c.9974C>G (p.Ser3325Cys) c.9108+866C>G (n.9108+866C>G) | |
1 | g.152304912G= | CA2479947718 | FLG | c.9974C= (p.Ser3325=) c.9108+866C= (n.9108+866C=) | |
1 | g.152304912G>T | CA342074239 | FLG | c.9974C>A (p.Ser3325Tyr) c.9108+866C>A (n.9108+866C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304913A= | CA2479947719 | FLG | c.9973T= (p.Ser3325=) c.9108+865T= (n.9108+865T=) | |
1 | g.152304913A>C | CA342074243 | FLG | c.9973T>G (p.Ser3325Ala) c.9108+865T>G (n.9108+865T>G) | |
1 | g.152304913A>G | CA342074249 | FLG | c.9973T>C (p.Ser3325Pro) c.9108+865T>C (n.9108+865T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304913A>T | CA342074245 | FLG | c.9973T>A (p.Ser3325Thr) c.9108+865T>A (n.9108+865T>A) | |
1 | g.152304914T>A | CA1103599 | FLG | c.9972A>T (p.Ser3324=) c.9108+864A>T (n.9108+864A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304914T>C | CA420926684 | FLG | c.9972A>G (p.Ser3324=) c.9108+864A>G (n.9108+864A>G) | |
1 | g.152304914T>G | CA420926685 | FLG | c.9972A>C (p.Ser3324=) c.9108+864A>C (n.9108+864A>C) | |
1 | g.152304914T= | CA2479947720 | FLG | c.9972A= (p.Ser3324=) c.9108+864A= (n.9108+864A=) | |
1 | g.152304915G>A | CA1103600 | FLG | c.9971C>T (p.Ser3324Leu) c.9108+863C>T (n.9108+863C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304915G>C | CA342074255 | FLG | c.9971C>G (p.Ser3324Ter) c.9108+863C>G (n.9108+863C>G) | |
1 | g.152304915G= | CA1141922490 | FLG | c.9971C= (p.Ser3324=) c.9108+863C= (n.9108+863C=) | |
1 | g.152304915G>T | CA342074256 | FLG | c.9971C>A (p.Ser3324Ter) c.9108+863C>A (n.9108+863C>A) | |
1 | g.152304916A>C | CA342074257 | FLG | c.9970T>G (p.Ser3324Ala) c.9108+862T>G (n.9108+862T>G) | |
1 | g.152304916A>G | CA342074258 | FLG | c.9970T>C (p.Ser3324Pro) c.9108+862T>C (n.9108+862T>C) | gnomAD v4 |
1 | g.152304916A>T | CA342074259 | FLG | c.9970T>A (p.Ser3324Thr) c.9108+862T>A (n.9108+862T>A) | |
1 | g.152304917A= | CA1146634638 | FLG | c.9969T= (p.Ala3323=) c.9108+861T= (n.9108+861T=) | |
1 | g.152304917A>C | CA420926689 | FLG | c.9969T>G (p.Ala3323=) c.9108+861T>G (n.9108+861T>G) | gnomAD v4 |
1 | g.152304917A>G | CA1103601 | FLG | c.9969T>C (p.Ala3323=) c.9108+861T>C (n.9108+861T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304917A>T | CA420926687 | FLG | c.9969T>A (p.Ala3323=) c.9108+861T>A (n.9108+861T>A) | |
1 | g.152304918G>A | CA342074262 | FLG | c.9968C>T (p.Ala3323Val) c.9108+860C>T (n.9108+860C>T) | gnomAD v4 |
1 | g.152304918G>C | CA1103602 | FLG | c.9968C>G (p.Ala3323Gly) c.9108+860C>G (n.9108+860C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304918G= | CA2479947721 | FLG | c.9968C= (p.Ala3323=) c.9108+860C= (n.9108+860C=) | |
1 | g.152304918G>T | CA342074267 | FLG | c.9968C>A (p.Ala3323Asp) c.9108+860C>A (n.9108+860C>A) | |
1 | g.152304919C>A | CA342074279 | FLG | c.9967G>T (p.Ala3323Ser) c.9108+859G>T (n.9108+859G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304919C= | CA2479947722 | FLG | c.9967G= (p.Ala3323=) c.9108+859G= (n.9108+859G=) | |
1 | g.152304919C>G | CA342074277 | FLG | c.9967G>C (p.Ala3323Pro) c.9108+859G>C (n.9108+859G>C) | gnomAD v4 |
1 | g.152304919C>T | CA1103603 | FLG | c.9967G>A (p.Ala3323Thr) c.9108+859G>A (n.9108+859G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304920T>A | CA342074282 | FLG | c.9966A>T (p.Gln3322His) c.9108+858A>T (n.9108+858A>T) | dbSNP |
1 | g.152304920T>C | CA1103604 | FLG | c.9966A>G (p.Gln3322=) c.9108+858A>G (n.9108+858A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304920T>G | CA342074288 | FLG | c.9966A>C (p.Gln3322His) c.9108+858A>C (n.9108+858A>C) | |
1 | g.152304920T= | CA1140094308 | FLG | c.9966A= (p.Gln3322=) c.9108+858A= (n.9108+858A=) | |
1 | g.152304921T>A | CA342074291 | FLG | c.9965A>T (p.Gln3322Leu) c.9108+857A>T (n.9108+857A>T) | |
1 | g.152304921T>C | CA342074295 | FLG | c.9965A>G (p.Gln3322Arg) c.9108+857A>G (n.9108+857A>G) | |
1 | g.152304921T>G | CA342074299 | FLG | c.9965A>C (p.Gln3322Pro) c.9108+857A>C (n.9108+857A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304921T= | CA2479947723 | FLG | c.9965A= (p.Gln3322=) c.9108+857A= (n.9108+857A=) | |
1 | g.152304922G>A | CA30602649 | FLG | c.9964C>T (p.Gln3322Ter) c.9108+856C>T (n.9108+856C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304922G>C | CA342074308 | FLG | c.9964C>G (p.Gln3322Glu) c.9108+856C>G (n.9108+856C>G) | |
1 | g.152304922G= | CA1146275046 | FLG | c.9964C= (p.Gln3322=) c.9108+856C= (n.9108+856C=) | |
1 | g.152304922G>T | CA342074312 | FLG | c.9964C>A (p.Gln3322Lys) c.9108+856C>A (n.9108+856C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304923T>A | CA420926697 | FLG | c.9963A>T (p.Gly3321=) c.9108+855A>T (n.9108+855A>T) | |
1 | g.152304923T>C | CA420926700 | FLG | c.9963A>G (p.Gly3321=) c.9108+855A>G (n.9108+855A>G) | |
1 | g.152304923T>G | CA420926701 | FLG | c.9963A>C (p.Gly3321=) c.9108+855A>C (n.9108+855A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304923T= | CA2479947724 | FLG | c.9963A= (p.Gly3321=) c.9108+855A= (n.9108+855A=) | |
1 | g.152304924C>A | CA342074323 | FLG | c.9962G>T (p.Gly3321Val) c.9108+854G>T (n.9108+854G>T) | |
1 | g.152304924C>G | CA342074326 | FLG | c.9962G>C (p.Gly3321Ala) c.9108+854G>C (n.9108+854G>C) | |
1 | g.152304924C>T | CA342074332 | FLG | c.9962G>A (p.Gly3321Glu) c.9108+854G>A (n.9108+854G>A) | |
1 | g.152304925C>A | CA342074337 | FLG | c.9961G>T (p.Gly3321Ter) c.9108+853G>T (n.9108+853G>T) | |
1 | g.152304925C= | CA2479947725 | FLG | c.9961G= (p.Gly3321=) c.9108+853G= (n.9108+853G=) | |
1 | g.152304925C>G | CA342074344 | FLG | c.9961G>C (p.Gly3321Arg) c.9108+853G>C (n.9108+853G>C) | |
1 | g.152304925C>T | CA342074341 | FLG | c.9961G>A (p.Gly3321Arg) c.9108+853G>A (n.9108+853G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304926A= | CA1143486052 | FLG | c.9960T= (p.Arg3320=) c.9108+852T= (n.9108+852T=) | |
1 | g.152304926A>C | CA420926707 | FLG | c.9960T>G (p.Arg3320=) c.9108+852T>G (n.9108+852T>G) | gnomAD v4 |
1 | g.152304926A>G | CA1103605 | FLG | c.9960T>C (p.Arg3320=) c.9108+852T>C (n.9108+852T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304926A>T | CA420926708 | FLG | c.9960T>A (p.Arg3320=) c.9108+852T>A (n.9108+852T>A) | |
1 | g.152304927C>A | CA1103607 | FLG | c.9959G>T (p.Arg3320Leu) c.9108+851G>T (n.9108+851G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304927C= | CA1143383943 | FLG | c.9959G= (p.Arg3320=) c.9108+851G= (n.9108+851G=) | |
1 | g.152304927C>G | CA342074349 | FLG | c.9959G>C (p.Arg3320Pro) c.9108+851G>C (n.9108+851G>C) | |
1 | g.152304927C>T | CA1103606 | FLG | c.9959G>A (p.Arg3320His) c.9108+851G>A (n.9108+851G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304928G>A | CA1103608 | FLG | c.9958C>T (p.Arg3320Cys) c.9108+850C>T (n.9108+850C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304928G>C | CA342074355 | FLG | c.9958C>G (p.Arg3320Gly) c.9108+850C>G (n.9108+850C>G) | dbSNP gnomAD v2 |
1 | g.152304928G= | CA2479947726 | FLG | c.9958C= (p.Arg3320=) c.9108+850C= (n.9108+850C=) | |
1 | g.152304928G>T | CA342074358 | FLG | c.9958C>A (p.Arg3320Ser) c.9108+850C>A (n.9108+850C>A) | |
1 | g.152304929C>A | CA420926711 | FLG | c.9957G>T (p.Pro3319=) c.9108+849G>T (n.9108+849G>T) | gnomAD v4 |
1 | g.152304929C= | CA2479947727 | FLG | c.9957G= (p.Pro3319=) c.9108+849G= (n.9108+849G=) | |
1 | g.152304929C>G | CA420926712 | FLG | c.9957G>C (p.Pro3319=) c.9108+849G>C (n.9108+849G>C) | |
1 | g.152304929C>T | CA1103609 | FLG | c.9957G>A (p.Pro3319=) c.9108+849G>A (n.9108+849G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304930G>A | CA1103611 | FLG | c.9956C>T (p.Pro3319Leu) c.9108+848C>T (n.9108+848C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304930G>C | CA1103610 | FLG | c.9956C>G (p.Pro3319Arg) c.9108+848C>G (n.9108+848C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304930G= | CA1141623134 | FLG | c.9956C= (p.Pro3319=) c.9108+848C= (n.9108+848C=) | |
1 | g.152304930G>T | CA342074369 | FLG | c.9956C>A (p.Pro3319Gln) c.9108+848C>A (n.9108+848C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304931G>A | CA342074370 | FLG | c.9955C>T (p.Pro3319Ser) c.9108+847C>T (n.9108+847C>T) | |
1 | g.152304931G>C | CA1103612 | FLG | c.9955C>G (p.Pro3319Ala) c.9108+847C>G (n.9108+847C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304931G= | CA1143520122 | FLG | c.9955C= (p.Pro3319=) c.9108+847C= (n.9108+847C=) | |
1 | g.152304931G>T | CA342074371 | FLG | c.9955C>A (p.Pro3319Thr) c.9108+847C>A (n.9108+847C>A) | |
1 | g.152304932A>C | CA342074372 | FLG | c.9954T>G (p.Ile3318Met) c.9108+846T>G (n.9108+846T>G) | |
1 | g.152304932A>G | CA420926717 | FLG | c.9954T>C (p.Ile3318=) c.9108+846T>C (n.9108+846T>C) | |
1 | g.152304932A>T | CA420926718 | FLG | c.9954T>A (p.Ile3318=) c.9108+846T>A (n.9108+846T>A) | |
1 | g.152304933A= | CA1142048012 | FLG | c.9953T= (p.Ile3318=) c.9108+845T= (n.9108+845T=) | |
1 | g.152304933A>C | CA342074373 | FLG | c.9953T>G (p.Ile3318Ser) c.9108+845T>G (n.9108+845T>G) | |
1 | g.152304933A>G | CA1103613 | FLG | c.9953T>C (p.Ile3318Thr) c.9108+845T>C (n.9108+845T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304933A>T | CA342074378 | FLG | c.9953T>A (p.Ile3318Asn) c.9108+845T>A (n.9108+845T>A) | |
1 | g.152304934T>A | CA342074382 | FLG | c.9952A>T (p.Ile3318Phe) c.9108+844A>T (n.9108+844A>T) | gnomAD v4 |
1 | g.152304934T>C | CA342074387 | FLG | c.9952A>G (p.Ile3318Val) c.9108+844A>G (n.9108+844A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304934T>G | CA342074384 | FLG | c.9952A>C (p.Ile3318Leu) c.9108+844A>C (n.9108+844A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304934T= | CA2479947728 | FLG | c.9952A= (p.Ile3318=) c.9108+844A= (n.9108+844A=) | |
1 | g.152304935G>A | CA420926723 | FLG | c.9951C>T (p.Gly3317=) c.9108+843C>T (n.9108+843C>T) | |
1 | g.152304935G>C | CA420926724 | FLG | c.9951C>G (p.Gly3317=) c.9108+843C>G (n.9108+843C>G) | dbSNP |
1 | g.152304935G= | CA2479947729 | FLG | c.9951C= (p.Gly3317=) c.9108+843C= (n.9108+843C=) | |
1 | g.152304935G>T | CA420926725 | FLG | c.9951C>A (p.Gly3317=) c.9108+843C>A (n.9108+843C>A) | gnomAD v4 |
1 | g.152304936C>A | CA342074395 | FLG | c.9950G>T (p.Gly3317Val) c.9108+842G>T (n.9108+842G>T) | |
1 | g.152304936C>G | CA342074397 | FLG | c.9950G>C (p.Gly3317Ala) c.9108+842G>C (n.9108+842G>C) | |
1 | g.152304936C>T | CA342074400 | FLG | c.9950G>A (p.Gly3317Asp) c.9108+842G>A (n.9108+842G>A) |