1 | g.152308658T>A | CA420929007 | FLG | c.6228A>T (p.Ala2076=)
| COSMIC |
1 | g.152308658T>C | CA420929005 | FLG | c.6228A>G (p.Ala2076=)
| |
1 | g.152308658T>G | CA420929006 | FLG | c.6228A>C (p.Ala2076=)
| |
1 | g.152308659G>A | CA342055123 | FLG | c.6227C>T (p.Ala2076Val)
| dbSNP gnomAD v4 |
1 | g.152308659G>C | CA342055127 | FLG | c.6227C>G (p.Ala2076Gly)
| |
1 | g.152308659G= | CA2479949766 | FLG | c.6227C= (p.Ala2076=)
| |
1 | g.152308659G>T | CA342055129 | FLG | c.6227C>A (p.Ala2076Glu)
| |
1 | g.152308660C>A | CA1105359 | FLG | c.6226G>T (p.Ala2076Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308660C= | CA1141076659 | FLG | c.6226G= (p.Ala2076=)
| |
1 | g.152308660C>G | CA342055137 | FLG | c.6226G>C (p.Ala2076Pro)
| gnomAD v4 |
1 | g.152308660C>T | CA1105358 | FLG | c.6226G>A (p.Ala2076Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308661G>A | CA1105360 | FLG | c.6225C>T (p.Ser2075=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308661G>C | CA420929008 | FLG | c.6225C>G (p.Ser2075=)
| |
1 | g.152308661G= | CA1142334705 | FLG | c.6225C= (p.Ser2075=)
| |
1 | g.152308661G>T | CA420929010 | FLG | c.6225C>A (p.Ser2075=)
| dbSNP |
1 | g.152308662_152308663insGGGGGGG | CA526662237 | FLG | c.6225_6226insCCCCCCC (p.Ala2076ProfsTer25)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308662G>A | CA342055151 | FLG | c.6224C>T (p.Ser2075Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308662G>C | CA342055159 | FLG | c.6224C>G (p.Ser2075Cys)
| |
1 | g.152308662G= | CA2479949769 | FLG | c.6224C= (p.Ser2075=)
| |
1 | g.152308662G>T | CA342055149 | FLG | c.6224C>A (p.Ser2075Tyr)
| |
1 | g.152308663A= | CA2479949771 | FLG | c.6223T= (p.Ser2075=)
| |
1 | g.152308663A>C | CA342055166 | FLG | c.6223T>G (p.Ser2075Ala)
| gnomAD v4 |
1 | g.152308663A>G | CA342055171 | FLG | c.6223T>C (p.Ser2075Pro)
| dbSNP gnomAD v4 |
1 | g.152308663A>T | CA342055178 | FLG | c.6223T>A (p.Ser2075Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308664C>A | CA1105361 | FLG | c.6222G>T (p.Glu2074Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308664C= | CA2479949773 | FLG | c.6222G= (p.Glu2074=)
| |
1 | g.152308664C>G | CA1105362 | FLG | c.6222G>C (p.Glu2074Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308664C>T | CA420929011 | FLG | c.6222G>A (p.Glu2074=)
| |
1 | g.152308665T>A | CA342055201 | FLG | c.6221A>T (p.Glu2074Val)
| |
1 | g.152308665T>C | CA342055191 | FLG | c.6221A>G (p.Glu2074Gly)
| gnomAD v4 |
1 | g.152308665T>G | CA342055195 | FLG | c.6221A>C (p.Glu2074Ala)
| gnomAD v4 |
1 | g.152308666C>A | CA342055205 | FLG | c.6220G>T (p.Glu2074Ter)
| dbSNP |
1 | g.152308666C= | CA1141785770 | FLG | c.6220G= (p.Glu2074=)
| |
1 | g.152308666C>G | CA1105363 | FLG | c.6220G>C (p.Glu2074Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308666C>T | CA342055212 | FLG | c.6220G>A (p.Glu2074Lys)
| |
1 | g.152308666_152308668delinsCTT | CA2479949776 | FLG | c.6218_6220delinsAAG (p.Lys2073=)
| |
1 | g.152308667T>A | CA342055224 | FLG | c.6219A>T (p.Lys2073Asn)
| |
1 | g.152308667T>C | CA1105364 | FLG | c.6219A>G (p.Lys2073=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308667T>G | CA342055225 | FLG | c.6219A>C (p.Lys2073Asn)
| |
1 | g.152308667T= | CA2479949779 | FLG | c.6219A= (p.Lys2073=)
| |
1 | g.152308668_152308669del | CA526662238 | FLG | c.6218_6219del (p.Lys2073ArgfsTer25)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308668T>A | CA1105366 | FLG | c.6218A>T (p.Lys2073Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308668T>C | CA1105365 | FLG | c.6218A>G (p.Lys2073Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308668T>G | CA342055231 | FLG | c.6218A>C (p.Lys2073Thr)
| |
1 | g.152308668T= | CA1142156918 | FLG | c.6218A= (p.Lys2073=)
| |
1 | g.152308669T>A | CA342055243 | FLG | c.6217A>T (p.Lys2073Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308669T>C | CA342055266 | FLG | c.6217A>G (p.Lys2073Glu)
| |
1 | g.152308669T>G | CA1105367 | FLG | c.6217A>C (p.Lys2073Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308669T= | CA1147786868 | FLG | c.6217A= (p.Lys2073=)
| |
1 | g.152308670G>A | CA420929016 | FLG | c.6216C>T (p.His2072=)
| gnomAD v4 |
1 | g.152308670G>C | CA342055269 | FLG | c.6216C>G (p.His2072Gln)
| dbSNP gnomAD v4 |
1 | g.152308670G= | CA1143550105 | FLG | c.6216C= (p.His2072=)
| |
1 | g.152308670G>T | CA1105368 | FLG | c.6216C>A (p.His2072Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308671T>A | CA342055276 | FLG | c.6215A>T (p.His2072Leu)
| |
1 | g.152308671T>C | CA1105369 | FLG | c.6215A>G (p.His2072Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308671T>G | CA342055285 | FLG | c.6215A>C (p.His2072Pro)
| |
1 | g.152308671T= | CA2479949782 | FLG | c.6215A= (p.His2072=)
| |
1 | g.152308672G>A | CA342055288 | FLG | c.6214C>T (p.His2072Tyr)
| |
1 | g.152308672G>C | CA342055289 | FLG | c.6214C>G (p.His2072Asp)
| gnomAD v4 |
1 | g.152308672G>T | CA342055290 | FLG | c.6214C>A (p.His2072Asn)
| |
1 | g.152308673del | CA2574058016 | FLG | c.6214del (p.His2072ThrfsTer23)
| gnomAD v4 |
1 | g.152308673G>A | CA420929018 | FLG | c.6213C>T (p.Ser2071=)
| |
1 | g.152308673G>C | CA342055292 | FLG | c.6213C>G (p.Ser2071Arg)
| gnomAD v4 |
1 | g.152308673G= | CA2479949784 | FLG | c.6213C= (p.Ser2071=)
| |
1 | g.152308673G>T | CA30550383 | FLG | c.6213C>A (p.Ser2071Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308674C>A | CA342055298 | FLG | c.6212G>T (p.Ser2071Ile)
| |
1 | g.152308674C= | CA2479949786 | FLG | c.6212G= (p.Ser2071=)
| |
1 | g.152308674C>G | CA342055302 | FLG | c.6212G>C (p.Ser2071Thr)
| |
1 | g.152308674C>T | CA1105370 | FLG | c.6212G>A (p.Ser2071Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308675T>A | CA1105371 | FLG | c.6211A>T (p.Ser2071Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308675T>C | CA342055317 | FLG | c.6211A>G (p.Ser2071Gly)
| dbSNP |
1 | g.152308675T>G | CA342055310 | FLG | c.6211A>C (p.Ser2071Arg)
| |
1 | g.152308675T= | CA2479949787 | FLG | c.6211A= (p.Ser2071=)
| |
1 | g.152308676C>A | CA342055319 | FLG | c.6210G>T (p.Gln2070His)
| gnomAD v4 |
1 | g.152308676C= | CA2479949789 | FLG | c.6210G= (p.Gln2070=)
| |
1 | g.152308676C>G | CA1105372 | FLG | c.6210G>C (p.Gln2070His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308676C>T | CA420929022 | FLG | c.6210G>A (p.Gln2070=)
| dbSNP gnomAD v4 |
1 | g.152308677T>A | CA342055332 | FLG | c.6209A>T (p.Gln2070Leu)
| |
1 | g.152308677T>C | CA342055335 | FLG | c.6209A>G (p.Gln2070Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308677T>G | CA342055339 | FLG | c.6209A>C (p.Gln2070Pro)
| |
1 | g.152308677T= | CA2479949790 | FLG | c.6209A= (p.Gln2070=)
| |
1 | g.152308678G>A | CA342055344 | FLG | c.6208C>T (p.Gln2070Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308678G>C | CA342055347 | FLG | c.6208C>G (p.Gln2070Glu)
| |
1 | g.152308678G= | CA2479949793 | FLG | c.6208C= (p.Gln2070=)
| |
1 | g.152308678G>T | CA342055352 | FLG | c.6208C>A (p.Gln2070Lys)
| |
1 | g.152308679C>A | CA342055366 | FLG | c.6207G>T (p.Gln2069His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308679C= | CA2479949795 | FLG | c.6207G= (p.Gln2069=)
| |
1 | g.152308679C>G | CA342055370 | FLG | c.6207G>C (p.Gln2069His)
| |
1 | g.152308679C>T | CA420929029 | FLG | c.6207G>A (p.Gln2069=)
| gnomAD v4 |
1 | g.152308680T>A | CA342055382 | FLG | c.6206A>T (p.Gln2069Leu)
| |
1 | g.152308680T>C | CA342055380 | FLG | c.6206A>G (p.Gln2069Arg)
| dbSNP |
1 | g.152308680T>G | CA342055376 | FLG | c.6206A>C (p.Gln2069Pro)
| dbSNP |
1 | g.152308680T= | CA2479949796 | FLG | c.6206A= (p.Gln2069=)
| |
1 | g.152308681G>A | CA342055384 | FLG | c.6205C>T (p.Gln2069Ter)
| COSMIC |
1 | g.152308681G>C | CA342055389 | FLG | c.6205C>G (p.Gln2069Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308681G= | CA1141835170 | FLG | c.6205C= (p.Gln2069=)
| |
1 | g.152308681G>T | CA1105373 | FLG | c.6205C>A (p.Gln2069Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308682A= | CA1143383950 | FLG | c.6204T= (p.His2068=)
| |
1 | g.152308682A>C | CA342055397 | FLG | c.6204T>G (p.His2068Gln)
| dbSNP COSMIC |
1 | g.152308682A>G | CA420929034 | FLG | c.6204T>C (p.His2068=)
| |
1 | g.152308682A>T | CA1105374 | FLG | c.6204T>A (p.His2068Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308683del | CA2647993603 | FLG | c.6203del (p.His2068LeufsTer27)
| gnomAD v4 |
1 | g.152308683T>A | CA342055405 | FLG | c.6203A>T (p.His2068Leu)
| |
1 | g.152308683T>C | CA342055407 | FLG | c.6203A>G (p.His2068Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308683T>G | CA342055412 | FLG | c.6203A>C (p.His2068Pro)
| |
1 | g.152308683T= | CA2479949800 | FLG | c.6203A= (p.His2068=)
| |
1 | g.152308683_152308684delinsTG | CA2479949799 | FLG | c.6202_6203delinsCA (p.His2068=)
| |
1 | g.152308684G>A | CA342055418 | FLG | c.6202C>T (p.His2068Tyr)
| gnomAD v4 |
1 | g.152308684G>C | CA342055419 | FLG | c.6202C>G (p.His2068Asp)
| |
1 | g.152308684G>T | CA342055420 | FLG | c.6202C>A (p.His2068Asn)
| |
1 | g.152308684_152308687delinsGGGG | CA1148413801 | FLG | c.6199_6202delinsCCCC (p.Pro2067=)
| |
1 | g.152308687del | CA1105375 | FLG | c.6202del (p.His2068IlefsTer27)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308685G>A | CA420929038 | FLG | c.6201C>T (p.Pro2067=)
| COSMIC |
1 | g.152308685G>C | CA1105376 | FLG | c.6201C>G (p.Pro2067=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308685G= | CA2479949803 | FLG | c.6201C= (p.Pro2067=)
| |
1 | g.152308685G>T | CA420929040 | FLG | c.6201C>A (p.Pro2067=)
| COSMIC |
1 | g.152308686G>A | CA342055444 | FLG | c.6200C>T (p.Pro2067Leu)
| gnomAD v4 |
1 | g.152308686G>C | CA342055435 | FLG | c.6200C>G (p.Pro2067Arg)
| |
1 | g.152308686G= | CA2479949805 | FLG | c.6200C= (p.Pro2067=)
| |
1 | g.152308686G>T | CA342055439 | FLG | c.6200C>A (p.Pro2067His)
| dbSNP gnomAD v4 COSMIC |
1 | g.152308687G>A | CA1105378 | FLG | c.6199C>T (p.Pro2067Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152308687G>C | CA1105377 | FLG | c.6199C>G (p.Pro2067Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308687G= | CA2479949806 | FLG | c.6199C= (p.Pro2067=)
| |
1 | g.152308687G>T | CA342055455 | FLG | c.6199C>A (p.Pro2067Thr)
| COSMIC |
1 | g.152308688C>A | CA420929048 | FLG | c.6198G>T (p.Gly2066=)
| dbSNP |
1 | g.152308688C= | CA2479949808 | FLG | c.6198G= (p.Gly2066=)
| |
1 | g.152308688C>G | CA420929049 | FLG | c.6198G>C (p.Gly2066=)
| |
1 | g.152308688C>T | CA1105379 | FLG | c.6198G>A (p.Gly2066=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308689C>A | CA1105380 | FLG | c.6197G>T (p.Gly2066Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308689C= | CA1144031655 | FLG | c.6197G= (p.Gly2066=)
| |
1 | g.152308689C>G | CA1105381 | FLG | c.6197G>C (p.Gly2066Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308689C>T | CA342055470 | FLG | c.6197G>A (p.Gly2066Glu)
| |
1 | g.152308690C>A | CA342055476 | FLG | c.6196G>T (p.Gly2066Trp)
| |
1 | g.152308690C= | CA2479949810 | FLG | c.6196G= (p.Gly2066=)
| |
1 | g.152308690C>G | CA342055480 | FLG | c.6196G>C (p.Gly2066Arg)
| |
1 | g.152308690C>T | CA342055484 | FLG | c.6196G>A (p.Gly2066Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308691A>C | CA420929059 | FLG | c.6195T>G (p.Ala2065=)
| gnomAD v4 |
1 | g.152308691A>G | CA420929061 | FLG | c.6195T>C (p.Ala2065=)
| |
1 | g.152308691A>T | CA420929062 | FLG | c.6195T>A (p.Ala2065=)
| gnomAD v4 |
1 | g.152308692G>A | CA342055488 | FLG | c.6194C>T (p.Ala2065Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308692G>C | CA342055493 | FLG | c.6194C>G (p.Ala2065Gly)
| |
1 | g.152308692G= | CA2479949812 | FLG | c.6194C= (p.Ala2065=)
| |
1 | g.152308692G>T | CA342055500 | FLG | c.6194C>A (p.Ala2065Asp)
| |
1 | g.152308693C>A | CA342055507 | FLG | c.6193G>T (p.Ala2065Ser)
| |
1 | g.152308693C= | CA2479949813 | FLG | c.6193G= (p.Ala2065=)
| |
1 | g.152308693C>G | CA342055510 | FLG | c.6193G>C (p.Ala2065Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308693C>T | CA342055503 | FLG | c.6193G>A (p.Ala2065Thr)
| gnomAD v4 |
1 | g.152308694T>A | CA342055517 | FLG | c.6192A>T (p.Lys2064Asn)
| gnomAD v4 |
1 | g.152308694T>C | CA1105382 | FLG | c.6192A>G (p.Lys2064=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308694T>G | CA342055521 | FLG | c.6192A>C (p.Lys2064Asn)
| COSMIC |
1 | g.152308694T= | CA2479949814 | FLG | c.6192A= (p.Lys2064=)
| |
1 | g.152308697del | CA913067317 | FLG | c.6192del (p.Ala2065LeufsTer?)
| |
1 | g.152308695T>A | CA342055527 | FLG | c.6191A>T (p.Lys2064Ile)
| |
1 | g.152308695T>C | CA342055533 | FLG | c.6191A>G (p.Lys2064Arg)
| |
1 | g.152308695T>G | CA342055530 | FLG | c.6191A>C (p.Lys2064Thr)
| |
1 | g.152308696T>A | CA342055537 | FLG | c.6190A>T (p.Lys2064Ter)
| |
1 | g.152308696T>C | CA342055538 | FLG | c.6190A>G (p.Lys2064Glu)
| |
1 | g.152308696T>G | CA1105383 | FLG | c.6190A>C (p.Lys2064Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308696T= | CA1140876381 | FLG | c.6190A= (p.Lys2064=)
| |
1 | g.152308697T>A | CA420929073 | FLG | c.6189A>T (p.Gly2063=)
| |
1 | g.152308697T>C | CA420929074 | FLG | c.6189A>G (p.Gly2063=)
| |
1 | g.152308697T>G | CA420929075 | FLG | c.6189A>C (p.Gly2063=)
| |
1 | g.152308697_152308699delinsTCC | CA2479949816 | FLG | c.6187_6189delinsGGA (p.Gly2063=)
| |
1 | g.152308698C>A | CA342055541 | FLG | c.6188G>T (p.Gly2063Val)
| |
1 | g.152308698C= | CA2479949818 | FLG | c.6188G= (p.Gly2063=)
| |
1 | g.152308698C>G | CA342055545 | FLG | c.6188G>C (p.Gly2063Ala)
| |
1 | g.152308698C>T | CA30550413 | FLG | c.6188G>A (p.Gly2063Glu)
| dbSNP gnomAD v4 |
1 | g.152308700del | CA2479949817 | FLG | c.6188del (p.Gly2063GlufsTer?)
| dbSNP |
1 | g.152308699_152308700del | CA526662239 | FLG | c.6187_6188del (p.Gly2063LysfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308699C>A | CA342055560 | FLG | c.6187G>T (p.Gly2063Ter)
| gnomAD v4 |
1 | g.152308699C= | CA1149105157 | FLG | c.6187G= (p.Gly2063=)
| |
1 | g.152308699C>G | CA342055564 | FLG | c.6187G>C (p.Gly2063Arg)
| |
1 | g.152308699C>T | CA1105384 | FLG | c.6187G>A (p.Gly2063Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308700C>A | CA342055571 | FLG | c.6186G>T (p.Gln2062His)
| dbSNP gnomAD v4 |
1 | g.152308700C= | CA2479949820 | FLG | c.6186G= (p.Gln2062=)
| |
1 | g.152308700C>G | CA1105385 | FLG | c.6186G>C (p.Gln2062His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308700C>T | CA420929079 | FLG | c.6186G>A (p.Gln2062=)
| dbSNP COSMIC |
1 | g.152308701T>A | CA342055577 | FLG | c.6185A>T (p.Gln2062Leu)
| |
1 | g.152308701T>C | CA342055578 | FLG | c.6185A>G (p.Gln2062Arg)
| |
1 | g.152308701T>G | CA342055579 | FLG | c.6185A>C (p.Gln2062Pro)
| |
1 | g.152308702G>A | CA342055587 | FLG | c.6184C>T (p.Gln2062Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308702G>C | CA30550416 | FLG | c.6184C>G (p.Gln2062Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308702G= | CA2479949822 | FLG | c.6184C= (p.Gln2062=)
| |
1 | g.152308702G>T | CA342055583 | FLG | c.6184C>A (p.Gln2062Lys)
| gnomAD v4 |
1 | g.152308703T>A | CA420929085 | FLG | c.6183A>T (p.Ala2061=)
| |
1 | g.152308703T>C | CA420929083 | FLG | c.6183A>G (p.Ala2061=)
| |
1 | g.152308703T>G | CA1105386 | FLG | c.6183A>C (p.Ala2061=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308703T= | CA2479949823 | FLG | c.6183A= (p.Ala2061=)
| |
1 | g.152308704G>A | CA1105387 | FLG | c.6182C>T (p.Ala2061Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308704G>C | CA342055591 | FLG | c.6182C>G (p.Ala2061Gly)
| dbSNP |
1 | g.152308704G= | CA1143359301 | FLG | c.6182C= (p.Ala2061=)
| |
1 | g.152308704G>T | CA342055593 | FLG | c.6182C>A (p.Ala2061Glu)
| |
1 | g.152308704_152308705insGG | CA526662240 | FLG | c.6182_6183insCC (p.Gln2062HisfsTer?)
| gnomAD v2 gnomAD v4 |
1 | g.152308705C>A | CA342055595 | FLG | c.6181G>T (p.Ala2061Ser)
| |
1 | g.152308705C= | CA2479949826 | FLG | c.6181G= (p.Ala2061=)
| |
1 | g.152308705C>G | CA342055598 | FLG | c.6181G>C (p.Ala2061Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308705C>T | CA342055603 | FLG | c.6181G>A (p.Ala2061Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308706T>A | CA420929092 | FLG | c.6180A>T (p.Ser2060=)
| |
1 | g.152308706T>C | CA420929093 | FLG | c.6180A>G (p.Ser2060=)
| |
1 | g.152308706T>G | CA420929094 | FLG | c.6180A>C (p.Ser2060=)
| |
1 | g.152308707G>A | CA342055608 | FLG | c.6179C>T (p.Ser2060Leu)
| |
1 | g.152308707G>C | CA342055612 | FLG | c.6179C>G (p.Ser2060Ter)
| |
1 | g.152308707G= | CA2479949828 | FLG | c.6179C= (p.Ser2060=)
| |
1 | g.152308707G>T | CA342055615 | FLG | c.6179C>A (p.Ser2060Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308707_152308708delinsGA | CA2479949829 | FLG | c.6178_6179delinsTC (p.Ser2060=)
| |
1 | g.152308708del | CA526662241 | FLG | c.6178del (p.Ser2060GlnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308708A= | CA2479949832 | FLG | c.6178T= (p.Ser2060=)
| |
1 | g.152308708A>C | CA342055628 | FLG | c.6178T>G (p.Ser2060Ala)
| |
1 | g.152308708A>G | CA342055633 | FLG | c.6178T>C (p.Ser2060Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308708A>T | CA342055621 | FLG | c.6178T>A (p.Ser2060Thr)
| gnomAD v4 |
1 | g.152308709C>A | CA420929101 | FLG | c.6177G>T (p.Val2059=)
| gnomAD v4 |
1 | g.152308709C>G | CA420929102 | FLG | c.6177G>C (p.Val2059=)
| |
1 | g.152308709C>T | CA420929103 | FLG | c.6177G>A (p.Val2059=)
| gnomAD v4 |
1 | g.152308709_152308713delinsCACTG | CA2479949834 | FLG | c.6173_6177delinsCAGTG (p.Ser2058=)
| |
1 | g.152308710A= | CA2479949835 | FLG | c.6176T= (p.Val2059=)
| |
1 | g.152308710A>C | CA342055636 | FLG | c.6176T>G (p.Val2059Gly)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308710A>G | CA1105388 | FLG | c.6176T>C (p.Val2059Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308710A>T | CA342055642 | FLG | c.6176T>A (p.Val2059Glu)
| |
1 | g.152308714_152308717del | CA2479949837 | FLG | c.6173_6176del (p.Ser2058CysfsTer?)
| dbSNP gnomAD v4 |
1 | g.152308711C>A | CA342055648 | FLG | c.6175G>T (p.Val2059Leu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308711C= | CA2479949838 | FLG | c.6175G= (p.Val2059=)
| |
1 | g.152308711C>G | CA342055650 | FLG | c.6175G>C (p.Val2059Leu)
| dbSNP gnomAD v4 |
1 | g.152308711C>T | CA1105389 | FLG | c.6175G>A (p.Val2059Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308712T>A | CA420929111 | FLG | c.6174A>T (p.Ser2058=)
| |
1 | g.152308712T>C | CA420929113 | FLG | c.6174A>G (p.Ser2058=)
| |
1 | g.152308712T>G | CA420929115 | FLG | c.6174A>C (p.Ser2058=)
| |
1 | g.152308713G>A | CA342055669 | FLG | c.6173C>T (p.Ser2058Leu)
| gnomAD v4 |
1 | g.152308713G>C | CA342055656 | FLG | c.6173C>G (p.Ser2058Ter)
| |
1 | g.152308713G>T | CA342055664 | FLG | c.6173C>A (p.Ser2058Ter)
| |
1 | g.152308714A>C | CA342055686 | FLG | c.6172T>G (p.Ser2058Ala)
| |
1 | g.152308714A>G | CA342055689 | FLG | c.6172T>C (p.Ser2058Pro)
| |
1 | g.152308714A>T | CA342055693 | FLG | c.6172T>A (p.Ser2058Thr)
| |
1 | g.152308714_152308722delinsACTGTGTGT | CA2479949840 | FLG | c.6164_6172delinsACACACAGT (p.Asp2055=)
| |
1 | g.152308715C>A | CA342055698 | FLG | c.6171G>T (p.Gln2057His)
| |
1 | g.152308715C= | CA2479949842 | FLG | c.6171G= (p.Gln2057=)
| |
1 | g.152308715C>G | CA342055700 | FLG | c.6171G>C (p.Gln2057His)
| |
1 | g.152308715C>T | CA420929123 | FLG | c.6171G>A (p.Gln2057=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308718_152308725del | CA526662242 | FLG | c.6164_6171del (p.Asp2055ValfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308716T>A | CA30550419 | FLG | c.6170A>T (p.Gln2057Leu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308716T>C | CA342055716 | FLG | c.6170A>G (p.Gln2057Arg)
| |
1 | g.152308716T>G | CA342055713 | FLG | c.6170A>C (p.Gln2057Pro)
| |
1 | g.152308716T= | CA2479949843 | FLG | c.6170A= (p.Gln2057=)
| |
1 | g.152308717G>A | CA1105390 | FLG | c.6169C>T (p.Gln2057Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308717G>C | CA342055720 | FLG | c.6169C>G (p.Gln2057Glu)
| |
1 | g.152308717G= | CA1143662962 | FLG | c.6169C= (p.Gln2057=)
| |
1 | g.152308717G>T | CA342055721 | FLG | c.6169C>A (p.Gln2057Lys)
| gnomAD v4 |
1 | g.152308718T>A | CA420929132 | FLG | c.6168A>T (p.Thr2056=)
| |
1 | g.152308718T>C | CA420929133 | FLG | c.6168A>G (p.Thr2056=)
| dbSNP |
1 | g.152308718T>G | CA420929134 | FLG | c.6168A>C (p.Thr2056=)
| |
1 | g.152308718T= | CA2479949844 | FLG | c.6168A= (p.Thr2056=)
| |
1 | g.152308719G>A | CA342055724 | FLG | c.6167C>T (p.Thr2056Ile)
| |
1 | g.152308719G>C | CA342055726 | FLG | c.6167C>G (p.Thr2056Arg)
| |
1 | g.152308719G>T | CA342055728 | FLG | c.6167C>A (p.Thr2056Lys)
| gnomAD v4 |
1 | g.152308720T>A | CA342055731 | FLG | c.6166A>T (p.Thr2056Ser)
| |
1 | g.152308720T>C | CA342055733 | FLG | c.6166A>G (p.Thr2056Ala)
| |
1 | g.152308720T>G | CA342055738 | FLG | c.6166A>C (p.Thr2056Pro)
| |
1 | g.152308721G>A | CA1105391 | FLG | c.6165C>T (p.Asp2055=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308721G>C | CA342055745 | FLG | c.6165C>G (p.Asp2055Glu)
| |
1 | g.152308721G= | CA2479949845 | FLG | c.6165C= (p.Asp2055=)
| |
1 | g.152308721G>T | CA1105392 | FLG | c.6165C>A (p.Asp2055Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308722T>A | CA342055753 | FLG | c.6164A>T (p.Asp2055Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308722T>C | CA342055750 | FLG | c.6164A>G (p.Asp2055Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308722T>G | CA342055747 | FLG | c.6164A>C (p.Asp2055Ala)
| |
1 | g.152308722T= | CA2479949847 | FLG | c.6164A= (p.Asp2055=)
| |
1 | g.152308723C>A | CA342055763 | FLG | c.6163G>T (p.Asp2055Tyr)
| dbSNP |
1 | g.152308723C= | CA2479949849 | FLG | c.6163G= (p.Asp2055=)
| |
1 | g.152308723C>G | CA342055759 | FLG | c.6163G>C (p.Asp2055His)
| |
1 | g.152308723C>T | CA342055764 | FLG | c.6163G>A (p.Asp2055Asn)
| |
1 | g.152308724T>A | CA420929148 | FLG | c.6162A>T (p.Ser2054=)
| |
1 | g.152308724T>C | CA420929147 | FLG | c.6162A>G (p.Ser2054=)
| |
1 | g.152308724T>G | CA420929146 | FLG | c.6162A>C (p.Ser2054=)
| dbSNP |
1 | g.152308724T= | CA2479949850 | FLG | c.6162A= (p.Ser2054=)
| |
1 | g.152308725G>A | CA342055765 | FLG | c.6161C>T (p.Ser2054Leu)
| |
1 | g.152308725G>C | CA342055767 | FLG | c.6161C>G (p.Ser2054Ter)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308725G= | CA2479949851 | FLG | c.6161C= (p.Ser2054=)
| |
1 | g.152308725G>T | CA342055772 | FLG | c.6161C>A (p.Ser2054Ter)
| gnomAD v4 |
1 | g.152308726A>C | CA342055781 | FLG | c.6160T>G (p.Ser2054Ala)
| |
1 | g.152308726A>G | CA342055783 | FLG | c.6160T>C (p.Ser2054Pro)
| gnomAD v4 |
1 | g.152308726A>T | CA342055786 | FLG | c.6160T>A (p.Ser2054Thr)
| |
1 | g.152308727G>A | CA420929150 | FLG | c.6159C>T (p.Asp2053=)
| |
1 | g.152308727G>C | CA342055792 | FLG | c.6159C>G (p.Asp2053Glu)
| gnomAD v3 gnomAD v4 |
1 | g.152308727G= | CA2479949852 | FLG | c.6159C= (p.Asp2053=)
| |
1 | g.152308727G>T | CA342055796 | FLG | c.6159C>A (p.Asp2053Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308728T>A | CA342055799 | FLG | c.6158A>T (p.Asp2053Val)
| |
1 | g.152308728T>C | CA342055801 | FLG | c.6158A>G (p.Asp2053Gly)
| |
1 | g.152308728T>G | CA342055805 | FLG | c.6158A>C (p.Asp2053Ala)
| |
1 | g.152308729C>A | CA1105394 | FLG | c.6157G>T (p.Asp2053Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308729C= | CA2479949853 | FLG | c.6157G= (p.Asp2053=)
| |
1 | g.152308729C>G | CA342055809 | FLG | c.6157G>C (p.Asp2053His)
| gnomAD v4 |
1 | g.152308729C>T | CA1105393 | FLG | c.6157G>A (p.Asp2053Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308730T>A | CA342055812 | FLG | c.6156A>T (p.Glu2052Asp)
| |
1 | g.152308730T>C | CA420929161 | FLG | c.6156A>G (p.Glu2052=)
| gnomAD v4 |
1 | g.152308730T>G | CA342055815 | FLG | c.6156A>C (p.Glu2052Asp)
| |
1 | g.152308731T>A | CA342055819 | FLG | c.6155A>T (p.Glu2052Val)
| |
1 | g.152308731T>C | CA342055821 | FLG | c.6155A>G (p.Glu2052Gly)
| |
1 | g.152308731T>G | CA342055825 | FLG | c.6155A>C (p.Glu2052Ala)
| |
1 | g.152308732C>A | CA342055832 | FLG | c.6154G>T (p.Glu2052Ter)
| COSMIC |
1 | g.152308732C= | CA2479949854 | FLG | c.6154G= (p.Glu2052=)
| |
1 | g.152308732C>G | CA342055836 | FLG | c.6154G>C (p.Glu2052Gln)
| |
1 | g.152308732C>T | CA342055840 | FLG | c.6154G>A (p.Glu2052Lys)
| dbSNP gnomAD v4 |
1 | g.152308733T>A | CA420929172 | FLG | c.6153A>T (p.Ser2051=)
| |
1 | g.152308733T>C | CA420929173 | FLG | c.6153A>G (p.Ser2051=)
| |
1 | g.152308733T>G | CA420929174 | FLG | c.6153A>C (p.Ser2051=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308733T= | CA2479949855 | FLG | c.6153A= (p.Ser2051=)
| |
1 | g.152308734G>A | CA342055845 | FLG | c.6152C>T (p.Ser2051Leu)
| gnomAD v4 |
1 | g.152308734G>C | CA342055849 | FLG | c.6152C>G (p.Ser2051Ter)
| gnomAD v4 |
1 | g.152308734G>T | CA342055855 | FLG | c.6152C>A (p.Ser2051Ter)
| |
1 | g.152308735A>C | CA342055862 | FLG | c.6151T>G (p.Ser2051Ala)
| |
1 | g.152308735A>G | CA342055866 | FLG | c.6151T>C (p.Ser2051Pro)
| |
1 | g.152308735A>T | CA342055871 | FLG | c.6151T>A (p.Ser2051Thr)
| |
1 | g.152308736A>C | CA342055878 | FLG | c.6150T>G (p.His2050Gln)
| |
1 | g.152308736A>G | CA420929180 | FLG | c.6150T>C (p.His2050=)
| gnomAD v3 gnomAD v4 |
1 | g.152308736A>T | CA342055883 | FLG | c.6150T>A (p.His2050Gln)
| |
1 | g.152308737T>A | CA342057283 | FLG | c.6149A>T (p.His2050Leu)
| |
1 | g.152308737T>C | CA342057290 | FLG | c.6149A>G (p.His2050Arg)
| dbSNP |
1 | g.152308737T>G | CA342057294 | FLG | c.6149A>C (p.His2050Pro)
| |
1 | g.152308737T= | CA2479949856 | FLG | c.6149A= (p.His2050=)
| |
1 | g.152308738G>A | CA342057317 | FLG | c.6148C>T (p.His2050Tyr)
| gnomAD v4 |
1 | g.152308738G>C | CA342057320 | FLG | c.6148C>G (p.His2050Asp)
| |
1 | g.152308738G>T | CA342057323 | FLG | c.6148C>A (p.His2050Asn)
| gnomAD v4 COSMIC |
1 | g.152308739T>A | CA420928792 | FLG | c.6147A>T (p.Gly2049=)
| |
1 | g.152308739T>C | CA420928794 | FLG | c.6147A>G (p.Gly2049=)
| |
1 | g.152308739T>G | CA420928790 | FLG | c.6147A>C (p.Gly2049=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308739T= | CA2479949857 | FLG | c.6147A= (p.Gly2049=)
| |
1 | g.152308740C>A | CA342057332 | FLG | c.6146G>T (p.Gly2049Val)
| |
1 | g.152308740C= | CA2479949859 | FLG | c.6146G= (p.Gly2049=)
| |
1 | g.152308740C>G | CA342057336 | FLG | c.6146G>C (p.Gly2049Ala)
| dbSNP |
1 | g.152308740C>T | CA342057339 | FLG | c.6146G>A (p.Gly2049Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152308742dup | CA1105395 | FLG | c.6146dup (p.His2050ThrfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308741C>A | CA342057344 | FLG | c.6145G>T (p.Gly2049Ter)
| |
1 | g.152308741C= | CA2479949861 | FLG | c.6145G= (p.Gly2049=)
| |
1 | g.152308741C>G | CA342057347 | FLG | c.6145G>C (p.Gly2049Arg)
| dbSNP |
1 | g.152308741C>T | CA342057351 | FLG | c.6145G>A (p.Gly2049Arg)
| |
1 | g.152308742C>A | CA342057358 | FLG | c.6144G>T (p.Glu2048Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308742C= | CA2479949863 | FLG | c.6144G= (p.Glu2048=)
| |
1 | g.152308742C>G | CA1105396 | FLG | c.6144G>C (p.Glu2048Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308742C>T | CA420928801 | FLG | c.6144G>A (p.Glu2048=)
| dbSNP gnomAD v4 |
1 | g.152308743T>A | CA342057367 | FLG | c.6143A>T (p.Glu2048Val)
| |
1 | g.152308743T>C | CA342057369 | FLG | c.6143A>G (p.Glu2048Gly)
| |
1 | g.152308743T>G | CA342057372 | FLG | c.6143A>C (p.Glu2048Ala)
| |
1 | g.152308744C>A | CA342057377 | FLG | c.6142G>T (p.Glu2048Ter)
| |
1 | g.152308744C= | CA2479949865 | FLG | c.6142G= (p.Glu2048=)
| |
1 | g.152308744C>G | CA342057379 | FLG | c.6142G>C (p.Glu2048Gln)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308744C>T | CA342057382 | FLG | c.6142G>A (p.Glu2048Lys)
| COSMIC |
1 | g.152308745A= | CA2479949866 | FLG | c.6141T= (p.Ser2047=)
| |
1 | g.152308745A>C | CA342057384 | FLG | c.6141T>G (p.Ser2047Arg)
| |
1 | g.152308745A>G | CA420928806 | FLG | c.6141T>C (p.Ser2047=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308745A>T | CA342057389 | FLG | c.6141T>A (p.Ser2047Arg)
| |
1 | g.152308746del | CA2647993607 | FLG | c.6140del (p.Ser2047MetfsTer?)
| gnomAD v4 |
1 | g.152308746C>A | CA1105398 | FLG | c.6140G>T (p.Ser2047Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308746C= | CA2479949867 | FLG | c.6140G= (p.Ser2047=)
| |
1 | g.152308746C>G | CA342057390 | FLG | c.6140G>C (p.Ser2047Thr)
| gnomAD v4 |
1 | g.152308746C>T | CA1105397 | FLG | c.6140G>A (p.Ser2047Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308747T>A | CA342057393 | FLG | c.6139A>T (p.Ser2047Cys)
| |
1 | g.152308747T>C | CA342057395 | FLG | c.6139A>G (p.Ser2047Gly)
| |
1 | g.152308747T>G | CA342057397 | FLG | c.6139A>C (p.Ser2047Arg)
| |
1 | g.152308748G>A | CA1105399 | FLG | c.6138C>T (p.Asp2046=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308748G>C | CA342057411 | FLG | c.6138C>G (p.Asp2046Glu)
| |
1 | g.152308748G= | CA2479949869 | FLG | c.6138C= (p.Asp2046=)
| |
1 | g.152308748G>T | CA342057404 | FLG | c.6138C>A (p.Asp2046Glu)
| |
1 | g.152308749T>A | CA342057434 | FLG | c.6137A>T (p.Asp2046Val)
| |
1 | g.152308749T>C | CA342057444 | FLG | c.6137A>G (p.Asp2046Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308749T>G | CA342057438 | FLG | c.6137A>C (p.Asp2046Ala)
| |
1 | g.152308749T= | CA2479949870 | FLG | c.6137A= (p.Asp2046=)
| |
1 | g.152308750C>A | CA342057447 | FLG | c.6136G>T (p.Asp2046Tyr)
| |
1 | g.152308750C= | CA2479949872 | FLG | c.6136G= (p.Asp2046=)
| |
1 | g.152308750C>G | CA342057454 | FLG | c.6136G>C (p.Asp2046His)
| |
1 | g.152308750C>T | CA342057451 | FLG | c.6136G>A (p.Asp2046Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308751A= | CA2479949873 | FLG | c.6135T= (p.Ser2045=)
| |
1 | g.152308751A>C | CA342057456 | FLG | c.6135T>G (p.Ser2045Arg)
| |
1 | g.152308751A>G | CA1105400 | FLG | c.6135T>C (p.Ser2045=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308751A>T | CA342057461 | FLG | c.6135T>A (p.Ser2045Arg)
| |
1 | g.152308752del | CA2647993608 | FLG | c.6134del (p.Ser2045MetfsTer?)
| gnomAD v4 |
1 | g.152308752C>A | CA342057463 | FLG | c.6134G>T (p.Ser2045Ile)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308752C= | CA1140153059 | FLG | c.6134G= (p.Ser2045=)
| |
1 | g.152308752C>G | CA1105401 | FLG | c.6134G>C (p.Ser2045Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308752C>T | CA342057468 | FLG | c.6134G>A (p.Ser2045Asn)
| |
1 | g.152308753T>A | CA342057473 | FLG | c.6133A>T (p.Ser2045Cys)
| |
1 | g.152308753T>C | CA342057477 | FLG | c.6133A>G (p.Ser2045Gly)
| gnomAD v4 |
1 | g.152308753T>G | CA342057478 | FLG | c.6133A>C (p.Ser2045Arg)
| |
1 | g.152308754G>A | CA420928825 | FLG | c.6132C>T (p.Ala2044=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308754G>C | CA420928827 | FLG | c.6132C>G (p.Ala2044=)
| |
1 | g.152308754G= | CA2479949877 | FLG | c.6132C= (p.Ala2044=)
| |
1 | g.152308754G>T | CA420928828 | FLG | c.6132C>A (p.Ala2044=)
| dbSNP |
1 | g.152308755G>A | CA342057482 | FLG | c.6131C>T (p.Ala2044Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308755G>C | CA342057480 | FLG | c.6131C>G (p.Ala2044Gly)
| |
1 | g.152308755G= | CA2479949879 | FLG | c.6131C= (p.Ala2044=)
| |
1 | g.152308755G>T | CA342057479 | FLG | c.6131C>A (p.Ala2044Asp)
| gnomAD v4 |
1 | g.152308756C>A | CA342057489 | FLG | c.6130G>T (p.Ala2044Ser)
| |
1 | g.152308756C>G | CA342057493 | FLG | c.6130G>C (p.Ala2044Pro)
| |
1 | g.152308756C>T | CA342057499 | FLG | c.6130G>A (p.Ala2044Thr)
| COSMIC |
1 | g.152308757C>A | CA342057503 | FLG | c.6129G>T (p.Gln2043His)
| |
1 | g.152308757C>G | CA342057506 | FLG | c.6129G>C (p.Gln2043His)
| gnomAD v4 |
1 | g.152308757C>T | CA420928831 | FLG | c.6129G>A (p.Gln2043=)
| gnomAD v4 |
1 | g.152308758T>A | CA342057511 | FLG | c.6128A>T (p.Gln2043Leu)
| COSMIC |
1 | g.152308758T>C | CA1105402 | FLG | c.6128A>G (p.Gln2043Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308758T>G | CA342057514 | FLG | c.6128A>C (p.Gln2043Pro)
| |
1 | g.152308758T= | CA1149065768 | FLG | c.6128A= (p.Gln2043=)
| |