1 | g.152308919_152309499del | CA2580611196 | FLG | c.5387_5967del (p.Gln1796ArgfsTer6)
| ClinVar |
1 | g.152309027G>A | CA420929116 | FLG | c.5859C>T (p.Gly1953=)
| gnomAD v4 |
1 | g.152309027G>C | CA420929117 | FLG | c.5859C>G (p.Gly1953=)
| |
1 | g.152309027G= | CA2479950042 | FLG | c.5859C= (p.Gly1953=)
| |
1 | g.152309027G>T | CA420929118 | FLG | c.5859C>A (p.Gly1953=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309028C>A | CA342060318 | FLG | c.5858G>T (p.Gly1953Val)
| gnomAD v3 gnomAD v4 |
1 | g.152309028C= | CA2479950043 | FLG | c.5858G= (p.Gly1953=)
| |
1 | g.152309028C>G | CA342060323 | FLG | c.5858G>C (p.Gly1953Ala)
| |
1 | g.152309028C>T | CA342060319 | FLG | c.5858G>A (p.Gly1953Asp)
| dbSNP gnomAD v4 |
1 | g.152309029C>A | CA1105549 | FLG | c.5857G>T (p.Gly1953Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309029C= | CA1143457076 | FLG | c.5857G= (p.Gly1953=)
| |
1 | g.152309029C>G | CA342060336 | FLG | c.5857G>C (p.Gly1953Arg)
| |
1 | g.152309029C>T | CA342060340 | FLG | c.5857G>A (p.Gly1953Ser)
| dbSNP gnomAD v4 |
1 | g.152309030A= | CA2479950044 | FLG | c.5856T= (p.Asp1952=)
| |
1 | g.152309030A>C | CA342060344 | FLG | c.5856T>G (p.Asp1952Glu)
| |
1 | g.152309030A>G | CA1105550 | FLG | c.5856T>C (p.Asp1952=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309030A>T | CA342060348 | FLG | c.5856T>A (p.Asp1952Glu)
| |
1 | g.152309030_152309031del | CA2647993640 | FLG | c.5855_5856del (p.Asp1952GlyfsTer?)
| gnomAD v4 |
1 | g.152309031T>A | CA342060354 | FLG | c.5855A>T (p.Asp1952Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309031T>C | CA342060355 | FLG | c.5855A>G (p.Asp1952Gly)
| dbSNP gnomAD v4 |
1 | g.152309031T>G | CA342060360 | FLG | c.5855A>C (p.Asp1952Ala)
| |
1 | g.152309031T= | CA2479950045 | FLG | c.5855A= (p.Asp1952=)
| |
1 | g.152309032C>A | CA342060364 | FLG | c.5854G>T (p.Asp1952Tyr)
| |
1 | g.152309032C= | CA1145151369 | FLG | c.5854G= (p.Asp1952=)
| |
1 | g.152309032C>G | CA1105551 | FLG | c.5854G>C (p.Asp1952His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309032C>T | CA342060370 | FLG | c.5854G>A (p.Asp1952Asn)
| dbSNP |
1 | g.152309033T>A | CA342060376 | FLG | c.5853A>T (p.Arg1951Ser)
| |
1 | g.152309033T>C | CA420929131 | FLG | c.5853A>G (p.Arg1951=)
| |
1 | g.152309033T>G | CA342060378 | FLG | c.5853A>C (p.Arg1951Ser)
| |
1 | g.152309034C>A | CA1105552 | FLG | c.5852G>T (p.Arg1951Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309034C= | CA1143384905 | FLG | c.5852G= (p.Arg1951=)
| |
1 | g.152309034C>G | CA342060389 | FLG | c.5852G>C (p.Arg1951Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309034C>T | CA342060386 | FLG | c.5852G>A (p.Arg1951Lys)
| |
1 | g.152309035T>A | CA342060394 | FLG | c.5851A>T (p.Arg1951Ter)
| |
1 | g.152309035T>C | CA342060395 | FLG | c.5851A>G (p.Arg1951Gly)
| dbSNP |
1 | g.152309035T>G | CA420929136 | FLG | c.5851A>C (p.Arg1951=)
| COSMIC |
1 | g.152309035T= | CA2479950046 | FLG | c.5851A= (p.Arg1951=)
| |
1 | g.152309036T>A | CA420929137 | FLG | c.5850A>T (p.Ser1950=)
| |
1 | g.152309036T>C | CA420929139 | FLG | c.5850A>G (p.Ser1950=)
| |
1 | g.152309036T>G | CA420929140 | FLG | c.5850A>C (p.Ser1950=)
| |
1 | g.152309037G>A | CA1105553 | FLG | c.5849C>T (p.Ser1950Leu)
| dbSNP ExAC gnomAD v4 |
1 | g.152309037G>C | CA30551674 | FLG | c.5849C>G (p.Ser1950Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309037G= | CA1143415169 | FLG | c.5849C= (p.Ser1950=)
| |
1 | g.152309037G>T | CA1105554 | FLG | c.5849C>A (p.Ser1950Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309038A= | CA2479950047 | FLG | c.5848T= (p.Ser1950=)
| |
1 | g.152309038A>C | CA342060406 | FLG | c.5848T>G (p.Ser1950Ala)
| |
1 | g.152309038A>G | CA1105555 | FLG | c.5848T>C (p.Ser1950Pro)
| dbSNP ExAC |
1 | g.152309038A>T | CA342060425 | FLG | c.5848T>A (p.Ser1950Thr)
| |
1 | g.152309039C>A | CA342060429 | FLG | c.5847G>T (p.Gln1949His)
| dbSNP gnomAD v4 |
1 | g.152309039C= | CA2479950048 | FLG | c.5847G= (p.Gln1949=)
| |
1 | g.152309039C>G | CA1105556 | FLG | c.5847G>C (p.Gln1949His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309039C>T | CA420929145 | FLG | c.5847G>A (p.Gln1949=)
| gnomAD v4 |
1 | g.152309040T>A | CA342060443 | FLG | c.5846A>T (p.Gln1949Leu)
| |
1 | g.152309040T>C | CA1105557 | FLG | c.5846A>G (p.Gln1949Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309040T>G | CA342060437 | FLG | c.5846A>C (p.Gln1949Pro)
| |
1 | g.152309040T= | CA1147683142 | FLG | c.5846A= (p.Gln1949=)
| |
1 | g.152309041G>A | CA1105559 | FLG | c.5845C>T (p.Gln1949Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309041G>C | CA1105558 | FLG | c.5845C>G (p.Gln1949Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309041G= | CA1141920947 | FLG | c.5845C= (p.Gln1949=)
| |
1 | g.152309041G>T | CA342060451 | FLG | c.5845C>A (p.Gln1949Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309042C>A | CA342060454 | FLG | c.5844G>T (p.Glu1948Asp)
| |
1 | g.152309042C>G | CA342060459 | FLG | c.5844G>C (p.Glu1948Asp)
| dbSNP gnomAD v4 |
1 | g.152309042C>T | CA420929149 | FLG | c.5844G>A (p.Glu1948=)
| |
1 | g.152309043T>A | CA342060463 | FLG | c.5843A>T (p.Glu1948Val)
| dbSNP |
1 | g.152309043T>C | CA342060466 | FLG | c.5843A>G (p.Glu1948Gly)
| |
1 | g.152309043T>G | CA342060469 | FLG | c.5843A>C (p.Glu1948Ala)
| |
1 | g.152309043T= | CA2479950049 | FLG | c.5843A= (p.Glu1948=)
| |
1 | g.152309044C>A | CA342060476 | FLG | c.5842G>T (p.Glu1948Ter)
| dbSNP gnomAD v4 |
1 | g.152309044C= | CA2479950050 | FLG | c.5842G= (p.Glu1948=)
| |
1 | g.152309044C>G | CA1105560 | FLG | c.5842G>C (p.Glu1948Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309044C>T | CA342060487 | FLG | c.5842G>A (p.Glu1948Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309045C>A | CA1105562 | FLG | c.5841G>T (p.Trp1947Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309045C= | CA1148726034 | FLG | c.5841G= (p.Trp1947=)
| |
1 | g.152309045C>G | CA342060493 | FLG | c.5841G>C (p.Trp1947Cys)
| |
1 | g.152309045C>T | CA1105561 | FLG | c.5841G>A (p.Trp1947Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309046C>A | CA342060498 | FLG | c.5840G>T (p.Trp1947Leu)
| COSMIC |
1 | g.152309046C= | CA1146799236 | FLG | c.5840G= (p.Trp1947=)
| |
1 | g.152309046C>G | CA342060506 | FLG | c.5840G>C (p.Trp1947Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309046C>T | CA1105563 | FLG | c.5840G>A (p.Trp1947Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309046_152309047delinsTG | CA2573051367 | FLG | c.5839_5840delinsCA (p.Trp1947Gln)
| ClinVar |
1 | g.152309047A= | CA1141174378 | FLG | c.5839T= (p.Trp1947=)
| |
1 | g.152309047A>C | CA1105564 | FLG | c.5839T>G (p.Trp1947Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309047A>G | CA1105565 | FLG | c.5839T>C (p.Trp1947Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309047A>T | CA342060522 | FLG | c.5839T>A (p.Trp1947Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309048A= | CA2479950051 | FLG | c.5838T= (p.Ala1946=)
| |
1 | g.152309048A>C | CA420929162 | FLG | c.5838T>G (p.Ala1946=)
| |
1 | g.152309048A>G | CA420929163 | FLG | c.5838T>C (p.Ala1946=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309048A>T | CA420929164 | FLG | c.5838T>A (p.Ala1946=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309049G>A | CA342060527 | FLG | c.5837C>T (p.Ala1946Val)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152309049G>C | CA342060551 | FLG | c.5837C>G (p.Ala1946Gly)
| |
1 | g.152309049G= | CA2479950052 | FLG | c.5837C= (p.Ala1946=)
| |
1 | g.152309049G>T | CA1105566 | FLG | c.5837C>A (p.Ala1946Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309050C>A | CA30551727 | FLG | c.5836G>T (p.Ala1946Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309050C= | CA2479950053 | FLG | c.5836G= (p.Ala1946=)
| |
1 | g.152309050C>G | CA342060562 | FLG | c.5836G>C (p.Ala1946Pro)
| gnomAD v4 |
1 | g.152309050C>T | CA1105567 | FLG | c.5836G>A (p.Ala1946Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309051A= | CA2479950055 | FLG | c.5835T= (p.Ser1945=)
| |
1 | g.152309051A>C | CA420929170 | FLG | c.5835T>G (p.Ser1945=)
| |
1 | g.152309051A>G | CA420929176 | FLG | c.5835T>C (p.Ser1945=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309051A>T | CA420929175 | FLG | c.5835T>A (p.Ser1945=)
| |
1 | g.152309051_152309054dup | CA2479950054 | FLG | c.5832_5835dup (p.Ala1946IlefsTer?)
| dbSNP |
1 | g.152309052G>A | CA342060574 | FLG | c.5834C>T (p.Ser1945Phe)
| dbSNP gnomAD v4 |
1 | g.152309052G>C | CA342060577 | FLG | c.5834C>G (p.Ser1945Cys)
| dbSNP |
1 | g.152309052G= | CA2479950056 | FLG | c.5834C= (p.Ser1945=)
| |
1 | g.152309052G>T | CA30551731 | FLG | c.5834C>A (p.Ser1945Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309053A= | CA2479950057 | FLG | c.5833T= (p.Ser1945=)
| |
1 | g.152309053A>C | CA342060582 | FLG | c.5833T>G (p.Ser1945Ala)
| |
1 | g.152309053A>G | CA342060587 | FLG | c.5833T>C (p.Ser1945Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309053A>T | CA342060589 | FLG | c.5833T>A (p.Ser1945Thr)
| dbSNP gnomAD v4 |
1 | g.152309054T>A | CA420929181 | FLG | c.5832A>T (p.Gly1944=)
| |
1 | g.152309054T>C | CA420929182 | FLG | c.5832A>G (p.Gly1944=)
| |
1 | g.152309054T>G | CA420929183 | FLG | c.5832A>C (p.Gly1944=)
| |
1 | g.152309055C>A | CA342060593 | FLG | c.5831G>T (p.Gly1944Val)
| |
1 | g.152309055C= | CA2479950058 | FLG | c.5831G= (p.Gly1944=)
| |
1 | g.152309055C>G | CA342060594 | FLG | c.5831G>C (p.Gly1944Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309055C>T | CA342060595 | FLG | c.5831G>A (p.Gly1944Glu)
| |
1 | g.152309056C>A | CA342060600 | FLG | c.5830G>T (p.Gly1944Ter)
| gnomAD v4 |
1 | g.152309056C>G | CA342060617 | FLG | c.5830G>C (p.Gly1944Arg)
| |
1 | g.152309056C>T | CA342060603 | FLG | c.5830G>A (p.Gly1944Arg)
| |
1 | g.152309057A= | CA2479950059 | FLG | c.5829T= (p.Leu1943=)
| |
1 | g.152309057A>C | CA420929190 | FLG | c.5829T>G (p.Leu1943=)
| |
1 | g.152309057A>G | CA420929191 | FLG | c.5829T>C (p.Leu1943=)
| |
1 | g.152309057A>T | CA1105568 | FLG | c.5829T>A (p.Leu1943=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309058A= | CA1141343883 | FLG | c.5828T= (p.Leu1943=)
| |
1 | g.152309058A>C | CA1105570 | FLG | c.5828T>G (p.Leu1943Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309058A>G | CA342060632 | FLG | c.5828T>C (p.Leu1943Pro)
| |
1 | g.152309058A>T | CA1105569 | FLG | c.5828T>A (p.Leu1943His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309058_152309059delinsAG | CA2479950060 | FLG | c.5827_5828delinsCT (p.Leu1943=)
| |
1 | g.152309059del | CA1105571 | FLG | c.5827del (p.Gly1944AspfsTer?)
| dbSNP ExAC gnomAD v2 |
1 | g.152309059G>A | CA1105572 | FLG | c.5827C>T (p.Leu1943Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309059G>C | CA342060652 | FLG | c.5827C>G (p.Leu1943Val)
| dbSNP COSMIC |
1 | g.152309059G= | CA1142104180 | FLG | c.5827C= (p.Leu1943=)
| |
1 | g.152309059G>T | CA30551765 | FLG | c.5827C>A (p.Leu1943Ile)
| dbSNP |
1 | g.152309060A= | CA2479950061 | FLG | c.5826T= (p.His1942=)
| |
1 | g.152309060A>C | CA342060655 | FLG | c.5826T>G (p.His1942Gln)
| dbSNP |
1 | g.152309060A>G | CA1105573 | FLG | c.5826T>C (p.His1942=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309060A>T | CA342060659 | FLG | c.5826T>A (p.His1942Gln)
| |
1 | g.152309061T>A | CA342060662 | FLG | c.5825A>T (p.His1942Leu)
| |
1 | g.152309061T>C | CA342060670 | FLG | c.5825A>G (p.His1942Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309061T>G | CA342060674 | FLG | c.5825A>C (p.His1942Pro)
| |
1 | g.152309061T= | CA2479950062 | FLG | c.5825A= (p.His1942=)
| |
1 | g.152309062G>A | CA342060678 | FLG | c.5824C>T (p.His1942Tyr)
| |
1 | g.152309062G>C | CA342060682 | FLG | c.5824C>G (p.His1942Asp)
| |
1 | g.152309062G>T | CA342060685 | FLG | c.5824C>A (p.His1942Asn)
| COSMIC |
1 | g.152309063G>A | CA1105575 | FLG | c.5823C>T (p.Asn1941=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309063G>C | CA342060693 | FLG | c.5823C>G (p.Asn1941Lys)
| |
1 | g.152309063G= | CA1143426801 | FLG | c.5823C= (p.Asn1941=)
| |
1 | g.152309063G>T | CA1105574 | FLG | c.5823C>A (p.Asn1941Lys)
| dbSNP ExAC |
1 | g.152309063_152309064delinsGT | CA2479950063 | FLG | c.5822_5823delinsAC (p.Asn1941=)
| |
1 | g.152309064T>A | CA342060699 | FLG | c.5822A>T (p.Asn1941Ile)
| |
1 | g.152309064T>C | CA342060707 | FLG | c.5822A>G (p.Asn1941Ser)
| ClinVar dbSNP |
1 | g.152309064T>G | CA342060712 | FLG | c.5822A>C (p.Asn1941Thr)
| |
1 | g.152309064T= | CA2479950064 | FLG | c.5822A= (p.Asn1941=)
| |
1 | g.152309066del | CA526662221 | FLG | c.5822del (p.Asn1941ThrfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309065T>A | CA342060727 | FLG | c.5821A>T (p.Asn1941Tyr)
| dbSNP |
1 | g.152309065T>C | CA342060717 | FLG | c.5821A>G (p.Asn1941Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309065T>G | CA342060721 | FLG | c.5821A>C (p.Asn1941His)
| |
1 | g.152309065T= | CA2479950065 | FLG | c.5821A= (p.Asn1941=)
| |
1 | g.152309066T>A | CA342060733 | FLG | c.5820A>T (p.Arg1940Ser)
| |
1 | g.152309066T>C | CA1105576 | FLG | c.5820A>G (p.Arg1940=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309066T>G | CA342060741 | FLG | c.5820A>C (p.Arg1940Ser)
| |
1 | g.152309066T= | CA2479950066 | FLG | c.5820A= (p.Arg1940=)
| |
1 | g.152309067C>A | CA342060752 | FLG | c.5819G>T (p.Arg1940Ile)
| |
1 | g.152309067C>G | CA342060755 | FLG | c.5819G>C (p.Arg1940Thr)
| |
1 | g.152309067C>T | CA342060760 | FLG | c.5819G>A (p.Arg1940Lys)
| |
1 | g.152309068T>A | CA342060764 | FLG | c.5818A>T (p.Arg1940Ter)
| |
1 | g.152309068T>C | CA342060767 | FLG | c.5818A>G (p.Arg1940Gly)
| |
1 | g.152309068T>G | CA420929215 | FLG | c.5818A>C (p.Arg1940=)
| |
1 | g.152309069G>A | CA420929217 | FLG | c.5817C>T (p.Ser1939=)
| |
1 | g.152309069G>C | CA420929219 | FLG | c.5817C>G (p.Ser1939=)
| gnomAD v4 |
1 | g.152309069G>T | CA420929221 | FLG | c.5817C>A (p.Ser1939=)
| |
1 | g.152309070G>A | CA342060778 | FLG | c.5816C>T (p.Ser1939Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309070G>C | CA1105578 | FLG | c.5816C>G (p.Ser1939Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309070G= | CA2479950067 | FLG | c.5816C= (p.Ser1939=)
| |
1 | g.152309070G>T | CA342060783 | FLG | c.5816C>A (p.Ser1939Tyr)
| gnomAD v4 |
1 | g.152309070_152309071delinsGA | CA2479950068 | FLG | c.5815_5816delinsTC (p.Ser1939=)
| |
1 | g.152309071A>C | CA342060805 | FLG | c.5815T>G (p.Ser1939Ala)
| |
1 | g.152309071A>G | CA342060795 | FLG | c.5815T>C (p.Ser1939Pro)
| |
1 | g.152309071A>T | CA342060814 | FLG | c.5815T>A (p.Ser1939Thr)
| |
1 | g.152309072del | CA1105577 | FLG | c.5815del (p.Ser1939ProfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309072A= | CA2479950069 | FLG | c.5814T= (p.Ala1938=)
| |
1 | g.152309072A>C | CA1105579 | FLG | c.5814T>G (p.Ala1938=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309072A>G | CA1105580 | FLG | c.5814T>C (p.Ala1938=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309072A>T | CA420929228 | FLG | c.5814T>A (p.Ala1938=)
| |
1 | g.152309073G>A | CA342060825 | FLG | c.5813C>T (p.Ala1938Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309073G>C | CA342060826 | FLG | c.5813C>G (p.Ala1938Gly)
| |
1 | g.152309073G= | CA2479950070 | FLG | c.5813C= (p.Ala1938=)
| |
1 | g.152309073G>T | CA342060827 | FLG | c.5813C>A (p.Ala1938Asp)
| |
1 | g.152309074C>A | CA342060830 | FLG | c.5812G>T (p.Ala1938Ser)
| |
1 | g.152309074C= | CA2479950071 | FLG | c.5812G= (p.Ala1938=)
| |
1 | g.152309074C>G | CA342060840 | FLG | c.5812G>C (p.Ala1938Pro)
| |
1 | g.152309074C>T | CA1105581 | FLG | c.5812G>A (p.Ala1938Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309075A= | CA1145454764 | FLG | c.5811T= (p.Ser1937=)
| |
1 | g.152309075A>C | CA1105582 | FLG | c.5811T>G (p.Ser1937=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309075A>G | CA1105583 | FLG | c.5811T>C (p.Ser1937=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309075A>T | CA420929230 | FLG | c.5811T>A (p.Ser1937=)
| |
1 | g.152309075_152309077del | CA2574058020 | FLG | c.5809_5811del (p.Ser1937del)
| |
1 | g.152309076G>A | CA1105584 | FLG | c.5810C>T (p.Ser1937Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309076G>C | CA342060871 | FLG | c.5810C>G (p.Ser1937Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152309076G= | CA2479950072 | FLG | c.5810C= (p.Ser1937=)
| |
1 | g.152309076G>T | CA342060867 | FLG | c.5810C>A (p.Ser1937Tyr)
| COSMIC |
1 | g.152309077A>C | CA342060878 | FLG | c.5809T>G (p.Ser1937Ala)
| |
1 | g.152309077A>G | CA342060881 | FLG | c.5809T>C (p.Ser1937Pro)
| gnomAD v4 |
1 | g.152309077A>T | CA342060886 | FLG | c.5809T>A (p.Ser1937Thr)
| |
1 | g.152309078C>A | CA1105585 | FLG | c.5808G>T (p.Gly1936=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309078C= | CA1141664575 | FLG | c.5808G= (p.Gly1936=)
| |
1 | g.152309078C>G | CA420929232 | FLG | c.5808G>C (p.Gly1936=)
| |
1 | g.152309078C>T | CA420929234 | FLG | c.5808G>A (p.Gly1936=)
| |
1 | g.152309079C>A | CA1105586 | FLG | c.5807G>T (p.Gly1936Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309079C= | CA2479950073 | FLG | c.5807G= (p.Gly1936=)
| |
1 | g.152309079C>G | CA342060902 | FLG | c.5807G>C (p.Gly1936Ala)
| gnomAD v4 |
1 | g.152309079C>T | CA342060906 | FLG | c.5807G>A (p.Gly1936Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309080C>A | CA342060907 | FLG | c.5806G>T (p.Gly1936Trp)
| |
1 | g.152309080C= | CA1140378103 | FLG | c.5806G= (p.Gly1936=)
| |
1 | g.152309080C>G | CA1105587 | FLG | c.5806G>C (p.Gly1936Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309080C>T | CA342060909 | FLG | c.5806G>A (p.Gly1936Arg)
| gnomAD v4 |
1 | g.152309081A>C | CA420929239 | FLG | c.5805T>G (p.Ser1935=)
| |
1 | g.152309081A>G | CA420929240 | FLG | c.5805T>C (p.Ser1935=)
| |
1 | g.152309081A>T | CA420929241 | FLG | c.5805T>A (p.Ser1935=)
| |
1 | g.152309082G>A | CA342060913 | FLG | c.5804C>T (p.Ser1935Phe)
| |
1 | g.152309082G>C | CA342060916 | FLG | c.5804C>G (p.Ser1935Cys)
| dbSNP |
1 | g.152309082G= | CA2479950074 | FLG | c.5804C= (p.Ser1935=)
| |
1 | g.152309082G>T | CA342060921 | FLG | c.5804C>A (p.Ser1935Tyr)
| |
1 | g.152309083A= | CA1148245630 | FLG | c.5803T= (p.Ser1935=)
| |
1 | g.152309083A>C | CA342060923 | FLG | c.5803T>G (p.Ser1935Ala)
| gnomAD v4 |
1 | g.152309083A>G | CA1105588 | FLG | c.5803T>C (p.Ser1935Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309083A>T | CA342060922 | FLG | c.5803T>A (p.Ser1935Thr)
| |
1 | g.152309083_152309084delinsAC | CA2479950075 | FLG | c.5802_5803delinsGT (p.Trp1934=)
| |
1 | g.152309084C>A | CA342060969 | FLG | c.5802G>T (p.Trp1934Cys)
| |
1 | g.152309084C= | CA2479950077 | FLG | c.5802G= (p.Trp1934=)
| |
1 | g.152309084C>G | CA1105589 | FLG | c.5802G>C (p.Trp1934Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309084C>T | CA342060939 | FLG | c.5802G>A (p.Trp1934Ter)
| COSMIC |
1 | g.152309085del | CA2479950076 | FLG | c.5802del (p.Trp1934CysfsTer?)
| dbSNP gnomAD v4 |
1 | g.152309085C>A | CA342060976 | FLG | c.5801G>T (p.Trp1934Leu)
| dbSNP |
1 | g.152309085C= | CA2479950078 | FLG | c.5801G= (p.Trp1934=)
| |
1 | g.152309085C>G | CA342060978 | FLG | c.5801G>C (p.Trp1934Ser)
| dbSNP gnomAD v4 |
1 | g.152309085C>T | CA342060979 | FLG | c.5801G>A (p.Trp1934Ter)
| gnomAD v4 |
1 | g.152309086A= | CA1145824000 | FLG | c.5800T= (p.Trp1934=)
| |
1 | g.152309086A>C | CA342060982 | FLG | c.5800T>G (p.Trp1934Gly)
| |
1 | g.152309086A>G | CA30551807 | FLG | c.5800T>C (p.Trp1934Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309086A>T | CA342060987 | FLG | c.5800T>A (p.Trp1934Arg)
| |
1 | g.152309086_152309087delinsAC | CA2479950079 | FLG | c.5799_5800delinsGT (p.Arg1933=)
| |
1 | g.152309087C>A | CA342061003 | FLG | c.5799G>T (p.Arg1933Ser)
| |
1 | g.152309087C= | CA2479950080 | FLG | c.5799G= (p.Arg1933=)
| |
1 | g.152309087C>G | CA342061004 | FLG | c.5799G>C (p.Arg1933Ser)
| gnomAD v4 |
1 | g.152309087C>T | CA420929247 | FLG | c.5799G>A (p.Arg1933=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309088del | CA1105590 | FLG | c.5799del (p.Arg1933SerfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309088C>A | CA342061005 | FLG | c.5798G>T (p.Arg1933Met)
| gnomAD v4 |
1 | g.152309088C= | CA2479950081 | FLG | c.5798G= (p.Arg1933=)
| |
1 | g.152309088C>G | CA342061010 | FLG | c.5798G>C (p.Arg1933Thr)
| |
1 | g.152309088C>T | CA1105591 | FLG | c.5798G>A (p.Arg1933Lys)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.152309089T>A | CA342061011 | FLG | c.5797A>T (p.Arg1933Trp)
| |
1 | g.152309089T>C | CA342061013 | FLG | c.5797A>G (p.Arg1933Gly)
| |
1 | g.152309089T>G | CA420929249 | FLG | c.5797A>C (p.Arg1933=)
| |
1 | g.152309090C>A | CA342061018 | FLG | c.5796G>T (p.Glu1932Asp)
| |
1 | g.152309090C= | CA2479950082 | FLG | c.5796G= (p.Glu1932=)
| |
1 | g.152309090C>G | CA342061021 | FLG | c.5796G>C (p.Glu1932Asp)
| gnomAD v4 |
1 | g.152309090C>T | CA420929254 | FLG | c.5796G>A (p.Glu1932=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309091T>A | CA342061035 | FLG | c.5795A>T (p.Glu1932Val)
| gnomAD v4 |
1 | g.152309091T>C | CA342061025 | FLG | c.5795A>G (p.Glu1932Gly)
| |
1 | g.152309091T>G | CA342061028 | FLG | c.5795A>C (p.Glu1932Ala)
| |
1 | g.152309092C>A | CA342061038 | FLG | c.5794G>T (p.Glu1932Ter)
| |
1 | g.152309092C= | CA2479950083 | FLG | c.5794G= (p.Glu1932=)
| |
1 | g.152309092C>G | CA342061041 | FLG | c.5794G>C (p.Glu1932Gln)
| |
1 | g.152309092C>T | CA342061044 | FLG | c.5794G>A (p.Glu1932Lys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309093A>C | CA420929257 | FLG | c.5793T>G (p.Ser1931=)
| |
1 | g.152309093A>G | CA420929258 | FLG | c.5793T>C (p.Ser1931=)
| gnomAD v4 |
1 | g.152309093A>T | CA420929259 | FLG | c.5793T>A (p.Ser1931=)
| gnomAD v4 |
1 | g.152309095_152309096del | CA2574058021 | FLG | c.5792_5793del (p.Ser1931Ter)
| |
1 | g.152309094G>A | CA342061047 | FLG | c.5792C>T (p.Ser1931Phe)
| gnomAD v4 |
1 | g.152309094G>C | CA342061051 | FLG | c.5792C>G (p.Ser1931Cys)
| |
1 | g.152309094G>T | CA342061056 | FLG | c.5792C>A (p.Ser1931Tyr)
| |
1 | g.152309095A= | CA2479950084 | FLG | c.5791T= (p.Ser1931=)
| |
1 | g.152309095A>C | CA342061093 | FLG | c.5791T>G (p.Ser1931Ala)
| |
1 | g.152309095A>G | CA1105592 | FLG | c.5791T>C (p.Ser1931Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309095A>T | CA342061066 | FLG | c.5791T>A (p.Ser1931Thr)
| |
1 | g.152309096G>A | CA420929265 | FLG | c.5790C>T (p.Asp1930=)
| dbSNP |
1 | g.152309096G>C | CA342061095 | FLG | c.5790C>G (p.Asp1930Glu)
| dbSNP gnomAD v4 |
1 | g.152309096G= | CA2479950085 | FLG | c.5790C= (p.Asp1930=)
| |
1 | g.152309096G>T | CA342061098 | FLG | c.5790C>A (p.Asp1930Glu)
| |
1 | g.152309097T>A | CA342061105 | FLG | c.5789A>T (p.Asp1930Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309097T>C | CA342061107 | FLG | c.5789A>G (p.Asp1930Gly)
| |
1 | g.152309097T>G | CA342061110 | FLG | c.5789A>C (p.Asp1930Ala)
| |
1 | g.152309097T= | CA2479950086 | FLG | c.5789A= (p.Asp1930=)
| |
1 | g.152309098C>A | CA342061115 | FLG | c.5788G>T (p.Asp1930Tyr)
| |
1 | g.152309098C>G | CA342061117 | FLG | c.5788G>C (p.Asp1930His)
| |
1 | g.152309098C>T | CA342061118 | FLG | c.5788G>A (p.Asp1930Asn)
| gnomAD v4 |
1 | g.152309099T>A | CA342061119 | FLG | c.5787A>T (p.Glu1929Asp)
| |
1 | g.152309099T>C | CA30551809 | FLG | c.5787A>G (p.Glu1929=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309099T>G | CA342061121 | FLG | c.5787A>C (p.Glu1929Asp)
| gnomAD v4 |
1 | g.152309099T= | CA1146507541 | FLG | c.5787A= (p.Glu1929=)
| |
1 | g.152309100T>A | CA342061125 | FLG | c.5786A>T (p.Glu1929Val)
| |
1 | g.152309100T>C | CA342061128 | FLG | c.5786A>G (p.Glu1929Gly)
| gnomAD v4 |
1 | g.152309100T>G | CA342061130 | FLG | c.5786A>C (p.Glu1929Ala)
| |
1 | g.152309101del | CA2647993646 | FLG | c.5785del (p.Glu1929LysfsTer?)
| gnomAD v4 |
1 | g.152309101C>A | CA342061135 | FLG | c.5785G>T (p.Glu1929Ter)
| dbSNP |
1 | g.152309101C= | CA2479950087 | FLG | c.5785G= (p.Glu1929=)
| |
1 | g.152309101C>G | CA342061134 | FLG | c.5785G>C (p.Glu1929Gln)
| |
1 | g.152309101C>T | CA1105593 | FLG | c.5785G>A (p.Glu1929Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309102T>A | CA420929273 | FLG | c.5784A>T (p.Ser1928=)
| |
1 | g.152309102T>C | CA1105594 | FLG | c.5784A>G (p.Ser1928=)
| dbSNP ExAC gnomAD v2 |
1 | g.152309102T>G | CA420929274 | FLG | c.5784A>C (p.Ser1928=)
| |
1 | g.152309102T= | CA2479950088 | FLG | c.5784A= (p.Ser1928=)
| |
1 | g.152309103G>A | CA342061137 | FLG | c.5783C>T (p.Ser1928Leu)
| |
1 | g.152309103G>C | CA342061139 | FLG | c.5783C>G (p.Ser1928Ter)
| gnomAD v4 |
1 | g.152309103G>T | CA342061147 | FLG | c.5783C>A (p.Ser1928Ter)
| |
1 | g.152309104A= | CA2479950089 | FLG | c.5782T= (p.Ser1928=)
| |
1 | g.152309104A>C | CA342061150 | FLG | c.5782T>G (p.Ser1928Ala)
| |
1 | g.152309104A>G | CA342061151 | FLG | c.5782T>C (p.Ser1928Pro)
| dbSNP |
1 | g.152309104A>T | CA342061153 | FLG | c.5782T>A (p.Ser1928Thr)
| |
1 | g.152309105G>A | CA1105595 | FLG | c.5781C>T (p.His1927=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309105G>C | CA342061159 | FLG | c.5781C>G (p.His1927Gln)
| |
1 | g.152309105G= | CA2479950090 | FLG | c.5781C= (p.His1927=)
| |
1 | g.152309105G>T | CA342061164 | FLG | c.5781C>A (p.His1927Gln)
| COSMIC |
1 | g.152309106T>A | CA342061169 | FLG | c.5780A>T (p.His1927Leu)
| |
1 | g.152309106T>C | CA342061172 | FLG | c.5780A>G (p.His1927Arg)
| |
1 | g.152309106T>G | CA342061173 | FLG | c.5780A>C (p.His1927Pro)
| |
1 | g.152309107G>A | CA342061177 | FLG | c.5779C>T (p.His1927Tyr)
| |
1 | g.152309107G>C | CA342061176 | FLG | c.5779C>G (p.His1927Asp)
| |
1 | g.152309107G= | CA2479950091 | FLG | c.5779C= (p.His1927=)
| |
1 | g.152309107G>T | CA342061174 | FLG | c.5779C>A (p.His1927Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309108T>A | CA420929281 | FLG | c.5778A>T (p.Gly1926=)
| |
1 | g.152309108T>C | CA420929282 | FLG | c.5778A>G (p.Gly1926=)
| |
1 | g.152309108T>G | CA420929283 | FLG | c.5778A>C (p.Gly1926=)
| |
1 | g.152309109C>A | CA342061183 | FLG | c.5777G>T (p.Gly1926Val)
| dbSNP |
1 | g.152309109C= | CA2479950092 | FLG | c.5777G= (p.Gly1926=)
| |
1 | g.152309109C>G | CA342061179 | FLG | c.5777G>C (p.Gly1926Ala)
| |
1 | g.152309109C>T | CA342061185 | FLG | c.5777G>A (p.Gly1926Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309110C>A | CA342061191 | FLG | c.5776G>T (p.Gly1926Ter)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309110C= | CA2479950093 | FLG | c.5776G= (p.Gly1926=)
| |
1 | g.152309110C>G | CA342061194 | FLG | c.5776G>C (p.Gly1926Arg)
| dbSNP gnomAD v2 |
1 | g.152309110C>T | CA1105596 | FLG | c.5776G>A (p.Gly1926Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309110_152309114delinsCCTGA | CA2479950094 | FLG | c.5772_5776delinsTCAGG (p.Ser1924=)
| |
1 | g.152309111C>A | CA342061199 | FLG | c.5775G>T (p.Gln1925His)
| |
1 | g.152309111C= | CA2479950095 | FLG | c.5775G= (p.Gln1925=)
| |
1 | g.152309111C>G | CA342061204 | FLG | c.5775G>C (p.Gln1925His)
| |
1 | g.152309111C>T | CA1105597 | FLG | c.5775G>A (p.Gln1925=)
| dbSNP ExAC gnomAD v2 |
1 | g.152309114_152309117del | CA526662224 | FLG | c.5772_5775del (p.Ser1924ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309112T>A | CA342061208 | FLG | c.5774A>T (p.Gln1925Leu)
| |
1 | g.152309112T>C | CA342061213 | FLG | c.5774A>G (p.Gln1925Arg)
| |
1 | g.152309112T>G | CA342061210 | FLG | c.5774A>C (p.Gln1925Pro)
| |
1 | g.152309113G>A | CA1105599 | FLG | c.5773C>T (p.Gln1925Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309113G>C | CA1105598 | FLG | c.5773C>G (p.Gln1925Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309113G= | CA1141860976 | FLG | c.5773C= (p.Gln1925=)
| |
1 | g.152309113G>T | CA342061218 | FLG | c.5773C>A (p.Gln1925Lys)
| |
1 | g.152309114A>C | CA342061222 | FLG | c.5772T>G (p.Ser1924Arg)
| |
1 | g.152309114A>G | CA420929288 | FLG | c.5772T>C (p.Ser1924=)
| |
1 | g.152309114A>T | CA342061232 | FLG | c.5772T>A (p.Ser1924Arg)
| |
1 | g.152309115C>A | CA342061237 | FLG | c.5771G>T (p.Ser1924Ile)
| |
1 | g.152309115C>G | CA342061239 | FLG | c.5771G>C (p.Ser1924Thr)
| |
1 | g.152309115C>T | CA342061242 | FLG | c.5771G>A (p.Ser1924Asn)
| gnomAD v4 |
1 | g.152309116T>A | CA342061243 | FLG | c.5770A>T (p.Ser1924Cys)
| |
1 | g.152309116T>C | CA342061244 | FLG | c.5770A>G (p.Ser1924Gly)
| |
1 | g.152309116T>G | CA342061246 | FLG | c.5770A>C (p.Ser1924Arg)
| |
1 | g.152309117G>A | CA420929293 | FLG | c.5769C>T (p.Asp1923=)
| |
1 | g.152309117G>C | CA342061251 | FLG | c.5769C>G (p.Asp1923Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309117G= | CA2479950096 | FLG | c.5769C= (p.Asp1923=)
| |
1 | g.152309117G>T | CA342061248 | FLG | c.5769C>A (p.Asp1923Glu)
| gnomAD v4 |
1 | g.152309118T>A | CA342061258 | FLG | c.5768A>T (p.Asp1923Val)
| |
1 | g.152309118T>C | CA342061269 | FLG | c.5768A>G (p.Asp1923Gly)
| gnomAD v4 |
1 | g.152309118T>G | CA342061273 | FLG | c.5768A>C (p.Asp1923Ala)
| |
1 | g.152309119del | CA2647993648 | FLG | c.5767del (p.Asp1923ThrfsTer?)
| gnomAD v4 |
1 | g.152309119C>A | CA342061275 | FLG | c.5767G>T (p.Asp1923Tyr)
| |
1 | g.152309119C= | CA2479950097 | FLG | c.5767G= (p.Asp1923=)
| |
1 | g.152309119C>G | CA342061279 | FLG | c.5767G>C (p.Asp1923His)
| dbSNP |
1 | g.152309119C>T | CA1105600 | FLG | c.5767G>A (p.Asp1923Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309120A= | CA2479950098 | FLG | c.5766T= (p.Ser1922=)
| |
1 | g.152309120A>C | CA342061287 | FLG | c.5766T>G (p.Ser1922Arg)
| |
1 | g.152309120A>G | CA420929298 | FLG | c.5766T>C (p.Ser1922=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309120A>T | CA342061288 | FLG | c.5766T>A (p.Ser1922Arg)
| |
1 | g.152309121C>A | CA342061292 | FLG | c.5765G>T (p.Ser1922Ile)
| gnomAD v4 |
1 | g.152309121C>G | CA342061294 | FLG | c.5765G>C (p.Ser1922Thr)
| gnomAD v4 |
1 | g.152309121C>T | CA342061295 | FLG | c.5765G>A (p.Ser1922Asn)
| gnomAD v4 |
1 | g.152309122T>A | CA342061299 | FLG | c.5764A>T (p.Ser1922Cys)
| |
1 | g.152309122T>C | CA342061302 | FLG | c.5764A>G (p.Ser1922Gly)
| |
1 | g.152309122T>G | CA342061296 | FLG | c.5764A>C (p.Ser1922Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309122T= | CA2479950099 | FLG | c.5764A= (p.Ser1922=)
| |
1 | g.152309123G>A | CA420929356 | FLG | c.5763C>T (p.Asp1921=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309123G>C | CA342061306 | FLG | c.5763C>G (p.Asp1921Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309123G= | CA2479950100 | FLG | c.5763C= (p.Asp1921=)
| |
1 | g.152309123G>T | CA342061307 | FLG | c.5763C>A (p.Asp1921Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309124T>A | CA342061312 | FLG | c.5762A>T (p.Asp1921Val)
| |
1 | g.152309124T>C | CA342061319 | FLG | c.5762A>G (p.Asp1921Gly)
| dbSNP gnomAD v4 |
1 | g.152309124T>G | CA342061323 | FLG | c.5762A>C (p.Asp1921Ala)
| |
1 | g.152309124T= | CA2479950101 | FLG | c.5762A= (p.Asp1921=)
| |
1 | g.152309125C>A | CA1105602 | FLG | c.5761G>T (p.Asp1921Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309125C= | CA2479950102 | FLG | c.5761G= (p.Asp1921=)
| |
1 | g.152309125C>G | CA342061325 | FLG | c.5761G>C (p.Asp1921His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309125C>T | CA342061332 | FLG | c.5761G>A (p.Asp1921Asn)
| gnomAD v4 |
1 | g.152309125_152309129delinsCCTGG | CA2479950103 | FLG | c.5757_5761delinsCCAGG (p.Ser1919=)
| |
1 | g.152309126C>A | CA342061337 | FLG | c.5760G>T (p.Gln1920His)
| |
1 | g.152309126C>G | CA342061343 | FLG | c.5760G>C (p.Gln1920His)
| gnomAD v4 |
1 | g.152309126C>T | CA420929360 | FLG | c.5760G>A (p.Gln1920=)
| gnomAD v4 |
1 | g.152309128_152309131del | CA1105601 | FLG | c.5757_5760del (p.Ser1919ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309127T>A | CA342061354 | FLG | c.5759A>T (p.Gln1920Leu)
| |
1 | g.152309127T>C | CA342061363 | FLG | c.5759A>G (p.Gln1920Arg)
| |
1 | g.152309127T>G | CA342061350 | FLG | c.5759A>C (p.Gln1920Pro)
| |