OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.125317377G>A | CA3071897 | FAT4 | c.966G>A (p.Thr322=) c.-55+1400G>A (n.-55+1400G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.125317377G>C | CA441366228 | FAT4 | c.966G>C (p.Thr322=) c.-55+1400G>C (n.-55+1400G>C) | gnomAD v4 |
| 4 | g.125317377G= | CA1491599679 | FAT4 | c.966G= (p.Thr322=) c.-55+1400G= (n.-55+1400G=) | |
| 4 | g.125317377G>T | CA441366229 | FAT4 | c.966G>T (p.Thr322=) c.-55+1400G>T (n.-55+1400G>T) | ClinVar gnomAD v4 |
| 4 | g.125317378G>A | CA358116911 | FAT4 | c.967G>A (p.Val323Met) c.-55+1401G>A (n.-55+1401G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317378G>C | CA358116912 | FAT4 | c.967G>C (p.Val323Leu) c.-55+1401G>C (n.-55+1401G>C) | |
| 4 | g.125317378G= | CA1491599685 | FAT4 | c.967G= (p.Val323=) c.-55+1401G= (n.-55+1401G=) | |
| 4 | g.125317378G>T | CA358116913 | FAT4 | c.967G>T (p.Val323Leu) c.-55+1401G>T (n.-55+1401G>T) | |
| 4 | g.125317379T>A | CA358116916 | FAT4 | c.968T>A (p.Val323Glu) c.-55+1402T>A (n.-55+1402T>A) | |
| 4 | g.125317379T>C | CA358116915 | FAT4 | c.968T>C (p.Val323Ala) c.-55+1402T>C (n.-55+1402T>C) | |
| 4 | g.125317379T>G | CA358116914 | FAT4 | c.968T>G (p.Val323Gly) c.-55+1402T>G (n.-55+1402T>G) | |
| 4 | g.125317380G>A | CA441366237 | FAT4 | c.969G>A (p.Val323=) c.-55+1403G>A (n.-55+1403G>A) | |
| 4 | g.125317380G>C | CA441366238 | FAT4 | c.969G>C (p.Val323=) c.-55+1403G>C (n.-55+1403G>C) | |
| 4 | g.125317380G>T | CA441366239 | FAT4 | c.969G>T (p.Val323=) c.-55+1403G>T (n.-55+1403G>T) | |
| 4 | g.125317381C>A | CA358116917 | FAT4 | c.970C>A (p.Gln324Lys) c.-55+1404C>A (n.-55+1404C>A) | |
| 4 | g.125317381C>G | CA358116919 | FAT4 | c.970C>G (p.Gln324Glu) c.-55+1404C>G (n.-55+1404C>G) | |
| 4 | g.125317381C>T | CA358116918 | FAT4 | c.970C>T (p.Gln324Ter) c.-55+1404C>T (n.-55+1404C>T) | |
| 4 | g.125317382A>C | CA358116920 | FAT4 | c.971A>C (p.Gln324Pro) c.-55+1405A>C (n.-55+1405A>C) | |
| 4 | g.125317382A>G | CA358116921 | FAT4 | c.971A>G (p.Gln324Arg) c.-55+1405A>G (n.-55+1405A>G) | |
| 4 | g.125317382A>T | CA358116922 | FAT4 | c.971A>T (p.Gln324Leu) c.-55+1405A>T (n.-55+1405A>T) | |
| 4 | g.125317383G>A | CA441366244 | FAT4 | c.972G>A (p.Gln324=) c.-55+1406G>A (n.-55+1406G>A) | gnomAD v4 |
| 4 | g.125317383G>C | CA358116923 | FAT4 | c.972G>C (p.Gln324His) c.-55+1406G>C (n.-55+1406G>C) | |
| 4 | g.125317383G>T | CA358116924 | FAT4 | c.972G>T (p.Gln324His) c.-55+1406G>T (n.-55+1406G>T) | gnomAD v4 |
| 4 | g.125317384G>A | CA3071898 | FAT4 | c.973G>A (p.Ala325Thr) c.-55+1407G>A (n.-55+1407G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317384G>C | CA358116926 | FAT4 | c.973G>C (p.Ala325Pro) c.-55+1407G>C (n.-55+1407G>C) | |
| 4 | g.125317384G= | CA1491599688 | FAT4 | c.973G= (p.Ala325=) c.-55+1407G= (n.-55+1407G=) | |
| 4 | g.125317384G>T | CA358116925 | FAT4 | c.973G>T (p.Ala325Ser) c.-55+1407G>T (n.-55+1407G>T) | gnomAD v4 |
| 4 | g.125317385C>A | CA358116927 | FAT4 | c.974C>A (p.Ala325Glu) c.-55+1408C>A (n.-55+1408C>A) | |
| 4 | g.125317385C= | CA1491599693 | FAT4 | c.974C= (p.Ala325=) c.-55+1408C= (n.-55+1408C=) | |
| 4 | g.125317385C>G | CA358116928 | FAT4 | c.974C>G (p.Ala325Gly) c.-55+1408C>G (n.-55+1408C>G) | |
| 4 | g.125317385C>T | CA358116929 | FAT4 | c.974C>T (p.Ala325Val) c.-55+1408C>T (n.-55+1408C>T) | dbSNP gnomAD v2 |
| 4 | g.125317386G>A | CA441366248 | FAT4 | c.975G>A (p.Ala325=) c.-55+1409G>A (n.-55+1409G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317386G>C | CA441366249 | FAT4 | c.975G>C (p.Ala325=) c.-55+1409G>C (n.-55+1409G>C) | |
| 4 | g.125317386G= | CA1491599695 | FAT4 | c.975G= (p.Ala325=) c.-55+1409G= (n.-55+1409G=) | |
| 4 | g.125317386G>T | CA441366250 | FAT4 | c.975G>T (p.Ala325=) c.-55+1409G>T (n.-55+1409G>T) | |
| 4 | g.125317387A>C | CA358116930 | FAT4 | c.976A>C (p.Met326Leu) c.-55+1410A>C (n.-55+1410A>C) | |
| 4 | g.125317387A>G | CA358116931 | FAT4 | c.976A>G (p.Met326Val) c.-55+1410A>G (n.-55+1410A>G) | COSMIC COSMIC |
| 4 | g.125317387A>T | CA358116932 | FAT4 | c.976A>T (p.Met326Leu) c.-55+1410A>T (n.-55+1410A>T) | gnomAD v4 |
| 4 | g.125317388T>A | CA358116933 | FAT4 | c.977T>A (p.Met326Lys) c.-55+1411T>A (n.-55+1411T>A) | |
| 4 | g.125317388T>C | CA358116935 | FAT4 | c.977T>C (p.Met326Thr) c.-55+1411T>C (n.-55+1411T>C) | gnomAD v4 |
| 4 | g.125317388T>G | CA358116934 | FAT4 | c.977T>G (p.Met326Arg) c.-55+1411T>G (n.-55+1411T>G) | gnomAD v4 |
| 4 | g.125317389G>A | CA358116936 | FAT4 | c.978G>A (p.Met326Ile) c.-55+1412G>A (n.-55+1412G>A) | |
| 4 | g.125317389G>C | CA358116937 | FAT4 | c.978G>C (p.Met326Ile) c.-55+1412G>C (n.-55+1412G>C) | |
| 4 | g.125317389G>T | CA358116938 | FAT4 | c.978G>T (p.Met326Ile) c.-55+1412G>T (n.-55+1412G>T) | |
| 4 | g.125317390G>A | CA358116939 | FAT4 | c.979G>A (p.Asp327Asn) c.-55+1413G>A (n.-55+1413G>A) | gnomAD v4 |
| 4 | g.125317390G>C | CA358116940 | FAT4 | c.979G>C (p.Asp327His) c.-55+1413G>C (n.-55+1413G>C) | |
| 4 | g.125317390G>T | CA358116941 | FAT4 | c.979G>T (p.Asp327Tyr) c.-55+1413G>T (n.-55+1413G>T) | |
| 4 | g.125317391del | CA2695198529 | FAT4 | c.980del (p.Asp327AlafsTer14) c.-55+1414del (n.-55+1414del) | ClinVar |
| 4 | g.125317391A>C | CA358116942 | FAT4 | c.980A>C (p.Asp327Ala) c.-55+1414A>C (n.-55+1414A>C) | |
| 4 | g.125317391A>G | CA358116943 | FAT4 | c.980A>G (p.Asp327Gly) c.-55+1414A>G (n.-55+1414A>G) | |
| 4 | g.125317391A>T | CA358116944 | FAT4 | c.980A>T (p.Asp327Val) c.-55+1414A>T (n.-55+1414A>T) | |
| 4 | g.125317392C>A | CA358116945 | FAT4 | c.981C>A (p.Asp327Glu) c.-55+1415C>A (n.-55+1415C>A) | |
| 4 | g.125317392C>G | CA358116946 | FAT4 | c.981C>G (p.Asp327Glu) c.-55+1415C>G (n.-55+1415C>G) | gnomAD v4 |
| 4 | g.125317392C>T | CA441366257 | FAT4 | c.981C>T (p.Asp327=) c.-55+1415C>T (n.-55+1415C>T) | |
| 4 | g.125317393A= | CA1491599698 | FAT4 | c.982A= (p.Arg328=) c.-55+1416A= (n.-55+1416A=) | |
| 4 | g.125317393A>C | CA441366261 | FAT4 | c.982A>C (p.Arg328=) c.-55+1416A>C (n.-55+1416A>C) | |
| 4 | g.125317393A>G | CA358116947 | FAT4 | c.982A>G (p.Arg328Gly) c.-55+1416A>G (n.-55+1416A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317393A>T | CA358116948 | FAT4 | c.982A>T (p.Arg328Ter) c.-55+1416A>T (n.-55+1416A>T) | |
| 4 | g.125317394G>A | CA3071899 | FAT4 | c.983G>A (p.Arg328Lys) c.-55+1417G>A (n.-55+1417G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317394G>C | CA358116949 | FAT4 | c.983G>C (p.Arg328Thr) c.-55+1417G>C (n.-55+1417G>C) | |
| 4 | g.125317394G= | CA1491599711 | FAT4 | c.983G= (p.Arg328=) c.-55+1417G= (n.-55+1417G=) | |
| 4 | g.125317394G>T | CA358116950 | FAT4 | c.983G>T (p.Arg328Ile) c.-55+1417G>T (n.-55+1417G>T) | |
| 4 | g.125317395A>C | CA358116951 | FAT4 | c.984A>C (p.Arg328Ser) c.-55+1418A>C (n.-55+1418A>C) | |
| 4 | g.125317395A>G | CA441366265 | FAT4 | c.984A>G (p.Arg328=) c.-55+1418A>G (n.-55+1418A>G) | |
| 4 | g.125317395A>T | CA358116952 | FAT4 | c.984A>T (p.Arg328Ser) c.-55+1418A>T (n.-55+1418A>T) | |
| 4 | g.125317396G>A | CA358116953 | FAT4 | c.985G>A (p.Gly329Ser) c.-55+1419G>A (n.-55+1419G>A) | |
| 4 | g.125317396G>C | CA358116954 | FAT4 | c.985G>C (p.Gly329Arg) c.-55+1419G>C (n.-55+1419G>C) | |
| 4 | g.125317396G>T | CA358116955 | FAT4 | c.985G>T (p.Gly329Cys) c.-55+1419G>T (n.-55+1419G>T) | |
| 4 | g.125317397G>A | CA358116956 | FAT4 | c.986G>A (p.Gly329Asp) c.-55+1420G>A (n.-55+1420G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317397G>C | CA358116957 | FAT4 | c.986G>C (p.Gly329Ala) c.-55+1420G>C (n.-55+1420G>C) | |
| 4 | g.125317397G= | CA1491599713 | FAT4 | c.986G= (p.Gly329=) c.-55+1420G= (n.-55+1420G=) | |
| 4 | g.125317397G>T | CA358116958 | FAT4 | c.986G>T (p.Gly329Val) c.-55+1420G>T (n.-55+1420G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317398C>A | CA441366272 | FAT4 | c.987C>A (p.Gly329=) c.-55+1421C>A (n.-55+1421C>A) | |
| 4 | g.125317398C= | CA1491599719 | FAT4 | c.987C= (p.Gly329=) c.-55+1421C= (n.-55+1421C=) | |
| 4 | g.125317398C>G | CA104861721 | FAT4 | c.987C>G (p.Gly329=) c.-55+1421C>G (n.-55+1421C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317398C>T | CA3071900 | FAT4 | c.987C>T (p.Gly329=) c.-55+1421C>T (n.-55+1421C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317399G>A | CA358116960 | FAT4 | c.988G>A (p.Val330Met) c.-55+1422G>A (n.-55+1422G>A) | dbSNP |
| 4 | g.125317399G>C | CA358116961 | FAT4 | c.988G>C (p.Val330Leu) c.-55+1422G>C (n.-55+1422G>C) | |
| 4 | g.125317399G= | CA1491599725 | FAT4 | c.988G= (p.Val330=) c.-55+1422G= (n.-55+1422G=) | |
| 4 | g.125317399G>T | CA358116959 | FAT4 | c.988G>T (p.Val330Leu) c.-55+1422G>T (n.-55+1422G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317400T>A | CA358116962 | FAT4 | c.989T>A (p.Val330Glu) c.-55+1423T>A (n.-55+1423T>A) | |
| 4 | g.125317400T>C | CA358116963 | FAT4 | c.989T>C (p.Val330Ala) c.-55+1423T>C (n.-55+1423T>C) | gnomAD v4 |
| 4 | g.125317400T>G | CA358116964 | FAT4 | c.989T>G (p.Val330Gly) c.-55+1423T>G (n.-55+1423T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317400T= | CA1491599728 | FAT4 | c.989T= (p.Val330=) c.-55+1423T= (n.-55+1423T=) | |
| 4 | g.125317401G>A | CA441366276 | FAT4 | c.990G>A (p.Val330=) c.-55+1424G>A (n.-55+1424G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317401G>C | CA441366277 | FAT4 | c.990G>C (p.Val330=) c.-55+1424G>C (n.-55+1424G>C) | |
| 4 | g.125317401G= | CA1491599733 | FAT4 | c.990G= (p.Val330=) c.-55+1424G= (n.-55+1424G=) | |
| 4 | g.125317401G>T | CA3071901 | FAT4 | c.990G>T (p.Val330=) c.-55+1424G>T (n.-55+1424G>T) | dbSNP ExAC gnomAD v2 |
| 4 | g.125317402C>A | CA358116967 | FAT4 | c.991C>A (p.Pro331Thr) c.-55+1425C>A (n.-55+1425C>A) | gnomAD v4 |
| 4 | g.125317402C>G | CA358116966 | FAT4 | c.991C>G (p.Pro331Ala) c.-55+1425C>G (n.-55+1425C>G) | |
| 4 | g.125317402C>T | CA358116965 | FAT4 | c.991C>T (p.Pro331Ser) c.-55+1425C>T (n.-55+1425C>T) | |
| 4 | g.125317403C>A | CA358116968 | FAT4 | c.992C>A (p.Pro331His) c.-55+1426C>A (n.-55+1426C>A) | |
| 4 | g.125317403C>G | CA358116969 | FAT4 | c.992C>G (p.Pro331Arg) c.-55+1426C>G (n.-55+1426C>G) | |
| 4 | g.125317403C>T | CA358116970 | FAT4 | c.992C>T (p.Pro331Leu) c.-55+1426C>T (n.-55+1426C>T) | ClinVar gnomAD v4 |
| 4 | g.125317404T>A | CA441366279 | FAT4 | c.993T>A (p.Pro331=) c.-55+1427T>A (n.-55+1427T>A) | |
| 4 | g.125317404T>C | CA441366280 | FAT4 | c.993T>C (p.Pro331=) c.-55+1427T>C (n.-55+1427T>C) | dbSNP |
| 4 | g.125317404T>G | CA441366281 | FAT4 | c.993T>G (p.Pro331=) c.-55+1427T>G (n.-55+1427T>G) | |
| 4 | g.125317404T= | CA1491599738 | FAT4 | c.993T= (p.Pro331=) c.-55+1427T= (n.-55+1427T=) | |
| 4 | g.125317405T>A | CA358116971 | FAT4 | c.994T>A (p.Ser332Thr) c.-55+1428T>A (n.-55+1428T>A) | |
| 4 | g.125317405T>C | CA358116972 | FAT4 | c.994T>C (p.Ser332Pro) c.-55+1428T>C (n.-55+1428T>C) | dbSNP |
| 4 | g.125317405T>G | CA358116973 | FAT4 | c.994T>G (p.Ser332Ala) c.-55+1428T>G (n.-55+1428T>G) | |
| 4 | g.125317405T= | CA1491599744 | FAT4 | c.994T= (p.Ser332=) c.-55+1428T= (n.-55+1428T=) | |
| 4 | g.125317406C>A | CA358116974 | FAT4 | c.995C>A (p.Ser332Tyr) c.-55+1429C>A (n.-55+1429C>A) | |
| 4 | g.125317406C= | CA1491599752 | FAT4 | c.995C= (p.Ser332=) c.-55+1429C= (n.-55+1429C=) | |
| 4 | g.125317406C>G | CA358116975 | FAT4 | c.995C>G (p.Ser332Cys) c.-55+1429C>G (n.-55+1429C>G) | |
| 4 | g.125317406C>T | CA3071902 | FAT4 | c.995C>T (p.Ser332Phe) c.-55+1429C>T (n.-55+1429C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317407C>A | CA441366285 | FAT4 | c.996C>A (p.Ser332=) c.-55+1430C>A (n.-55+1430C>A) | ClinVar gnomAD v4 |
| 4 | g.125317407C>G | CA441366286 | FAT4 | c.996C>G (p.Ser332=) c.-55+1430C>G (n.-55+1430C>G) | |
| 4 | g.125317407C>T | CA441366287 | FAT4 | c.996C>T (p.Ser332=) c.-55+1430C>T (n.-55+1430C>T) | COSMIC COSMIC |
| 4 | g.125317408C>A | CA358116976 | FAT4 | c.997C>A (p.Leu333Ile) c.-55+1431C>A (n.-55+1431C>A) | |
| 4 | g.125317408C>G | CA358116978 | FAT4 | c.997C>G (p.Leu333Val) c.-55+1431C>G (n.-55+1431C>G) | |
| 4 | g.125317408C>T | CA358116977 | FAT4 | c.997C>T (p.Leu333Phe) c.-55+1431C>T (n.-55+1431C>T) | gnomAD v4 |
| 4 | g.125317409T>A | CA358116979 | FAT4 | c.998T>A (p.Leu333His) c.-55+1432T>A (n.-55+1432T>A) | |
| 4 | g.125317409T>C | CA358116980 | FAT4 | c.998T>C (p.Leu333Pro) c.-55+1432T>C (n.-55+1432T>C) | gnomAD v4 |
| 4 | g.125317409T>G | CA358116981 | FAT4 | c.998T>G (p.Leu333Arg) c.-55+1432T>G (n.-55+1432T>G) | |
| 4 | g.125317410C>A | CA441366292 | FAT4 | c.999C>A (p.Leu333=) c.-55+1433C>A (n.-55+1433C>A) | |
| 4 | g.125317410C= | CA1491599757 | FAT4 | c.999C= (p.Leu333=) c.-55+1433C= (n.-55+1433C=) | |
| 4 | g.125317410C>G | CA441366293 | FAT4 | c.999C>G (p.Leu333=) c.-55+1433C>G (n.-55+1433C>G) | |
| 4 | g.125317410C>T | CA3071903 | FAT4 | c.999C>T (p.Leu333=) c.-55+1433C>T (n.-55+1433C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317411A= | CA1491599766 | FAT4 | c.1000A= (p.Thr334=) c.-55+1434A= (n.-55+1434A=) | |
| 4 | g.125317411A>C | CA358116982 | FAT4 | c.1000A>C (p.Thr334Pro) c.-55+1434A>C (n.-55+1434A>C) | |
| 4 | g.125317411A>G | CA358116983 | FAT4 | c.1000A>G (p.Thr334Ala) c.-55+1434A>G (n.-55+1434A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317411A>T | CA358116984 | FAT4 | c.1000A>T (p.Thr334Ser) c.-55+1434A>T (n.-55+1434A>T) | |
| 4 | g.125317412C>A | CA358116985 | FAT4 | c.1001C>A (p.Thr334Asn) c.-55+1435C>A (n.-55+1435C>A) | |
| 4 | g.125317412C>G | CA358116986 | FAT4 | c.1001C>G (p.Thr334Ser) c.-55+1435C>G (n.-55+1435C>G) | |
| 4 | g.125317412C>T | CA358116987 | FAT4 | c.1001C>T (p.Thr334Ile) c.-55+1435C>T (n.-55+1435C>T) | gnomAD v4 |
| 4 | g.125317413T>A | CA441366299 | FAT4 | c.1002T>A (p.Thr334=) c.-55+1436T>A (n.-55+1436T>A) | |
| 4 | g.125317413T>C | CA441366301 | FAT4 | c.1002T>C (p.Thr334=) c.-55+1436T>C (n.-55+1436T>C) | |
| 4 | g.125317413T>G | CA441366300 | FAT4 | c.1002T>G (p.Thr334=) c.-55+1436T>G (n.-55+1436T>G) | |
| 4 | g.125317414G>A | CA358116990 | FAT4 | c.1003G>A (p.Gly335Arg) c.-55+1437G>A (n.-55+1437G>A) | |
| 4 | g.125317414G>C | CA358116989 | FAT4 | c.1003G>C (p.Gly335Arg) c.-55+1437G>C (n.-55+1437G>C) | |
| 4 | g.125317414G>T | CA358116988 | FAT4 | c.1003G>T (p.Gly335Trp) c.-55+1437G>T (n.-55+1437G>T) | |
| 4 | g.125317415G>A | CA358116991 | FAT4 | c.1004G>A (p.Gly335Glu) c.-55+1438G>A (n.-55+1438G>A) | |
| 4 | g.125317415G>C | CA358116992 | FAT4 | c.1004G>C (p.Gly335Ala) c.-55+1438G>C (n.-55+1438G>C) | gnomAD v4 |
| 4 | g.125317415G>T | CA358116993 | FAT4 | c.1004G>T (p.Gly335Val) c.-55+1438G>T (n.-55+1438G>T) | gnomAD v4 |
| 4 | g.125317416G>A | CA441366302 | FAT4 | c.1005G>A (p.Gly335=) c.-55+1439G>A (n.-55+1439G>A) | dbSNP |
| 4 | g.125317416G>C | CA441366303 | FAT4 | c.1005G>C (p.Gly335=) c.-55+1439G>C (n.-55+1439G>C) | |
| 4 | g.125317416G= | CA1491599770 | FAT4 | c.1005G= (p.Gly335=) c.-55+1439G= (n.-55+1439G=) | |
| 4 | g.125317416G>T | CA441366304 | FAT4 | c.1005G>T (p.Gly335=) c.-55+1439G>T (n.-55+1439G>T) | |
| 4 | g.125317417C>A | CA358116994 | FAT4 | c.1006C>A (p.Arg336Ser) c.-55+1440C>A (n.-55+1440C>A) | |
| 4 | g.125317417C>G | CA358116995 | FAT4 | c.1006C>G (p.Arg336Gly) c.-55+1440C>G (n.-55+1440C>G) | |
| 4 | g.125317417C>T | CA358116996 | FAT4 | c.1006C>T (p.Arg336Cys) c.-55+1440C>T (n.-55+1440C>T) | gnomAD v4 COSMIC COSMIC |
| 4 | g.125317418G>A | CA358116997 | FAT4 | c.1007G>A (p.Arg336His) c.-55+1441G>A (n.-55+1441G>A) | |
| 4 | g.125317418G>C | CA358116998 | FAT4 | c.1007G>C (p.Arg336Pro) c.-55+1441G>C (n.-55+1441G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317418G= | CA1491599776 | FAT4 | c.1007G= (p.Arg336=) c.-55+1441G= (n.-55+1441G=) | |
| 4 | g.125317418G>T | CA104861736 | FAT4 | c.1007G>T (p.Arg336Leu) c.-55+1441G>T (n.-55+1441G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317419C>A | CA441366307 | FAT4 | c.1008C>A (p.Arg336=) c.-55+1442C>A (n.-55+1442C>A) | |
| 4 | g.125317419C= | CA1491599785 | FAT4 | c.1008C= (p.Arg336=) c.-55+1442C= (n.-55+1442C=) | |
| 4 | g.125317419C>G | CA441366309 | FAT4 | c.1008C>G (p.Arg336=) c.-55+1442C>G (n.-55+1442C>G) | |
| 4 | g.125317419C>T | CA441366310 | FAT4 | c.1008C>T (p.Arg336=) c.-55+1442C>T (n.-55+1442C>T) | dbSNP COSMIC COSMIC |
| 4 | g.125317420G>A | CA358116999 | FAT4 | c.1009G>A (p.Ala337Thr) c.-55+1443G>A (n.-55+1443G>A) | gnomAD v4 |
| 4 | g.125317420G>C | CA358117000 | FAT4 | c.1009G>C (p.Ala337Pro) c.-55+1443G>C (n.-55+1443G>C) | |
| 4 | g.125317420G>T | CA358117001 | FAT4 | c.1009G>T (p.Ala337Ser) c.-55+1443G>T (n.-55+1443G>T) | gnomAD v4 |
| 4 | g.125317421C>A | CA358117003 | FAT4 | c.1010C>A (p.Ala337Asp) c.-55+1444C>A (n.-55+1444C>A) | |
| 4 | g.125317421C>G | CA358117004 | FAT4 | c.1010C>G (p.Ala337Gly) c.-55+1444C>G (n.-55+1444C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317421C>T | CA358117002 | FAT4 | c.1010C>T (p.Ala337Val) c.-55+1444C>T (n.-55+1444C>T) | |
| 4 | g.125317422C>A | CA441366311 | FAT4 | c.1011C>A (p.Ala337=) c.-55+1445C>A (n.-55+1445C>A) | |
| 4 | g.125317422C= | CA1491599792 | FAT4 | c.1011C= (p.Ala337=) c.-55+1445C= (n.-55+1445C=) | |
| 4 | g.125317422C>G | CA441366313 | FAT4 | c.1011C>G (p.Ala337=) c.-55+1445C>G (n.-55+1445C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317422C>T | CA441366315 | FAT4 | c.1011C>T (p.Ala337=) c.-55+1445C>T (n.-55+1445C>T) | COSMIC COSMIC |
| 4 | g.125317423G>A | CA358117005 | FAT4 | c.1012G>A (p.Glu338Lys) c.-55+1446G>A (n.-55+1446G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317423G>C | CA358117006 | FAT4 | c.1012G>C (p.Glu338Gln) c.-55+1446G>C (n.-55+1446G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317423G= | CA1491599801 | FAT4 | c.1012G= (p.Glu338=) c.-55+1446G= (n.-55+1446G=) | |
| 4 | g.125317423G>T | CA358117007 | FAT4 | c.1012G>T (p.Glu338Ter) c.-55+1446G>T (n.-55+1446G>T) | |
| 4 | g.125317424A>C | CA358117008 | FAT4 | c.1013A>C (p.Glu338Ala) c.-55+1447A>C (n.-55+1447A>C) | |
| 4 | g.125317424A>G | CA358117009 | FAT4 | c.1013A>G (p.Glu338Gly) c.-55+1447A>G (n.-55+1447A>G) | |
| 4 | g.125317424A>T | CA358117010 | FAT4 | c.1013A>T (p.Glu338Val) c.-55+1447A>T (n.-55+1447A>T) | |
| 4 | g.125317425G>A | CA441366317 | FAT4 | c.1014G>A (p.Glu338=) c.-55+1448G>A (n.-55+1448G>A) | ClinVar gnomAD v4 COSMIC COSMIC |
| 4 | g.125317425G>C | CA358117011 | FAT4 | c.1014G>C (p.Glu338Asp) c.-55+1448G>C (n.-55+1448G>C) | |
| 4 | g.125317425G>T | CA358117012 | FAT4 | c.1014G>T (p.Glu338Asp) c.-55+1448G>T (n.-55+1448G>T) | ClinVar |
| 4 | g.125317426G>A | CA358117013 | FAT4 | c.1015G>A (p.Ala339Thr) c.-55+1449G>A (n.-55+1449G>A) | |
| 4 | g.125317426G>C | CA358117014 | FAT4 | c.1015G>C (p.Ala339Pro) c.-55+1449G>C (n.-55+1449G>C) | |
| 4 | g.125317426G>T | CA358117015 | FAT4 | c.1015G>T (p.Ala339Ser) c.-55+1449G>T (n.-55+1449G>T) | |
| 4 | g.125317427C>A | CA358117016 | FAT4 | c.1016C>A (p.Ala339Glu) c.-55+1450C>A (n.-55+1450C>A) | |
| 4 | g.125317427C= | CA1491599809 | FAT4 | c.1016C= (p.Ala339=) c.-55+1450C= (n.-55+1450C=) | |
| 4 | g.125317427C>G | CA358117017 | FAT4 | c.1016C>G (p.Ala339Gly) c.-55+1450C>G (n.-55+1450C>G) | |
| 4 | g.125317427C>T | CA358117018 | FAT4 | c.1016C>T (p.Ala339Val) c.-55+1450C>T (n.-55+1450C>T) | dbSNP |
| 4 | g.125317428G>A | CA104861741 | FAT4 | c.1017G>A (p.Ala339=) c.-55+1451G>A (n.-55+1451G>A) | dbSNP gnomAD v4 |
| 4 | g.125317428G>C | CA441366319 | FAT4 | c.1017G>C (p.Ala339=) c.-55+1451G>C (n.-55+1451G>C) | |
| 4 | g.125317428G= | CA1491599816 | FAT4 | c.1017G= (p.Ala339=) c.-55+1451G= (n.-55+1451G=) | |
| 4 | g.125317428G>T | CA3071904 | FAT4 | c.1017G>T (p.Ala339=) c.-55+1451G>T (n.-55+1451G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317429C>A | CA358117019 | FAT4 | c.1018C>A (p.Leu340Met) c.-55+1452C>A (n.-55+1452C>A) | |
| 4 | g.125317429C>G | CA358117020 | FAT4 | c.1018C>G (p.Leu340Val) c.-55+1452C>G (n.-55+1452C>G) | |
| 4 | g.125317429C>T | CA441366321 | FAT4 | c.1018C>T (p.Leu340=) c.-55+1452C>T (n.-55+1452C>T) | |
| 4 | g.125317430T>A | CA358117021 | FAT4 | c.1019T>A (p.Leu340Gln) c.-55+1453T>A (n.-55+1453T>A) | gnomAD v4 |
| 4 | g.125317430T>C | CA358117022 | FAT4 | c.1019T>C (p.Leu340Pro) c.-55+1453T>C (n.-55+1453T>C) | COSMIC COSMIC |
| 4 | g.125317430T>G | CA358117023 | FAT4 | c.1019T>G (p.Leu340Arg) c.-55+1453T>G (n.-55+1453T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317430T= | CA1491599840 | FAT4 | c.1019T= (p.Leu340=) c.-55+1453T= (n.-55+1453T=) | |
| 4 | g.125317431G>A | CA441366323 | FAT4 | c.1020G>A (p.Leu340=) c.-55+1454G>A (n.-55+1454G>A) | gnomAD v3 gnomAD v4 |
| 4 | g.125317431G>C | CA441366324 | FAT4 | c.1020G>C (p.Leu340=) c.-55+1454G>C (n.-55+1454G>C) | |
| 4 | g.125317431G>T | CA441366325 | FAT4 | c.1020G>T (p.Leu340=) c.-55+1454G>T (n.-55+1454G>T) | |
| 4 | g.125317432A>C | CA358117024 | FAT4 | c.1021A>C (p.Ile341Leu) c.-55+1455A>C (n.-55+1455A>C) | |
| 4 | g.125317432A>G | CA358117025 | FAT4 | c.1021A>G (p.Ile341Val) c.-55+1455A>G (n.-55+1455A>G) | |
| 4 | g.125317432A>T | CA358117026 | FAT4 | c.1021A>T (p.Ile341Phe) c.-55+1455A>T (n.-55+1455A>T) | COSMIC COSMIC |
| 4 | g.125317433T>A | CA358117027 | FAT4 | c.1022T>A (p.Ile341Asn) c.-55+1456T>A (n.-55+1456T>A) | |
| 4 | g.125317433T>C | CA358117028 | FAT4 | c.1022T>C (p.Ile341Thr) c.-55+1456T>C (n.-55+1456T>C) | |
| 4 | g.125317433T>G | CA358117029 | FAT4 | c.1022T>G (p.Ile341Ser) c.-55+1456T>G (n.-55+1456T>G) | |
| 4 | g.125317434T>A | CA441366327 | FAT4 | c.1023T>A (p.Ile341=) c.-55+1457T>A (n.-55+1457T>A) | |
| 4 | g.125317434T>C | CA441366328 | FAT4 | c.1023T>C (p.Ile341=) c.-55+1457T>C (n.-55+1457T>C) | |
| 4 | g.125317434T>G | CA358117030 | FAT4 | c.1023T>G (p.Ile341Met) c.-55+1457T>G (n.-55+1457T>G) | |
| 4 | g.125317435C>A | CA358117031 | FAT4 | c.1024C>A (p.Gln342Lys) c.-55+1458C>A (n.-55+1458C>A) | |
| 4 | g.125317435C>G | CA358117033 | FAT4 | c.1024C>G (p.Gln342Glu) c.-55+1458C>G (n.-55+1458C>G) | |
| 4 | g.125317435C>T | CA358117032 | FAT4 | c.1024C>T (p.Gln342Ter) c.-55+1458C>T (n.-55+1458C>T) | |
| 4 | g.125317436A= | CA1491599845 | FAT4 | c.1025A= (p.Gln342=) c.-55+1459A= (n.-55+1459A=) | |
| 4 | g.125317436A>C | CA358117034 | FAT4 | c.1025A>C (p.Gln342Pro) c.-55+1459A>C (n.-55+1459A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317436A>G | CA358117036 | FAT4 | c.1025A>G (p.Gln342Arg) c.-55+1459A>G (n.-55+1459A>G) | |
| 4 | g.125317436A>T | CA358117035 | FAT4 | c.1025A>T (p.Gln342Leu) c.-55+1459A>T (n.-55+1459A>T) | |
| 4 | g.125317437G>A | CA441366330 | FAT4 | c.1026G>A (p.Gln342=) c.-55+1460G>A (n.-55+1460G>A) | |
| 4 | g.125317437G>C | CA358117037 | FAT4 | c.1026G>C (p.Gln342His) c.-55+1460G>C (n.-55+1460G>C) | dbSNP gnomAD v4 |
| 4 | g.125317437G= | CA1491599849 | FAT4 | c.1026G= (p.Gln342=) c.-55+1460G= (n.-55+1460G=) | |
| 4 | g.125317437G>T | CA358117038 | FAT4 | c.1026G>T (p.Gln342His) c.-55+1460G>T (n.-55+1460G>T) | |
| 4 | g.125317438C>A | CA358117039 | FAT4 | c.1027C>A (p.Leu343Met) c.-55+1461C>A (n.-55+1461C>A) | |
| 4 | g.125317438C= | CA1491599852 | FAT4 | c.1027C= (p.Leu343=) c.-55+1461C= (n.-55+1461C=) | |
| 4 | g.125317438C>G | CA358117040 | FAT4 | c.1027C>G (p.Leu343Val) c.-55+1461C>G (n.-55+1461C>G) | |
| 4 | g.125317438C>T | CA104861743 | FAT4 | c.1027C>T (p.Leu343=) c.-55+1461C>T (n.-55+1461C>T) | dbSNP |
| 4 | g.125317439T>A | CA358117041 | FAT4 | c.1028T>A (p.Leu343Gln) c.-55+1462T>A (n.-55+1462T>A) | |
| 4 | g.125317439T>C | CA358117043 | FAT4 | c.1028T>C (p.Leu343Pro) c.-55+1462T>C (n.-55+1462T>C) | dbSNP gnomAD v2 |
| 4 | g.125317439T>G | CA358117042 | FAT4 | c.1028T>G (p.Leu343Arg) c.-55+1462T>G (n.-55+1462T>G) | |
| 4 | g.125317439T= | CA1491599856 | FAT4 | c.1028T= (p.Leu343=) c.-55+1462T= (n.-55+1462T=) | |
| 4 | g.125317440G>A | CA441366331 | FAT4 | c.1029G>A (p.Leu343=) c.-55+1463G>A (n.-55+1463G>A) | |
| 4 | g.125317440G>C | CA441366333 | FAT4 | c.1029G>C (p.Leu343=) c.-55+1463G>C (n.-55+1463G>C) | |
| 4 | g.125317440G= | CA1491599858 | FAT4 | c.1029G= (p.Leu343=) c.-55+1463G= (n.-55+1463G=) | |
| 4 | g.125317440G>T | CA441366332 | FAT4 | c.1029G>T (p.Leu343=) c.-55+1463G>T (n.-55+1463G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317441C>A | CA358117044 | FAT4 | c.1030C>A (p.Leu344Met) c.-55+1464C>A (n.-55+1464C>A) | |
| 4 | g.125317441C>G | CA358117045 | FAT4 | c.1030C>G (p.Leu344Val) c.-55+1464C>G (n.-55+1464C>G) | |
| 4 | g.125317441C>T | CA441366334 | FAT4 | c.1030C>T (p.Leu344=) c.-55+1464C>T (n.-55+1464C>T) | |
| 4 | g.125317442T>A | CA358117046 | FAT4 | c.1031T>A (p.Leu344Gln) c.-55+1465T>A (n.-55+1465T>A) | |
| 4 | g.125317442T>C | CA358117048 | FAT4 | c.1031T>C (p.Leu344Pro) c.-55+1465T>C (n.-55+1465T>C) | gnomAD v4 |
| 4 | g.125317442T>G | CA358117047 | FAT4 | c.1031T>G (p.Leu344Arg) c.-55+1465T>G (n.-55+1465T>G) | |
| 4 | g.125317443G>A | CA3071905 | FAT4 | c.1032G>A (p.Leu344=) c.-55+1466G>A (n.-55+1466G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317443G>C | CA441366335 | FAT4 | c.1032G>C (p.Leu344=) c.-55+1466G>C (n.-55+1466G>C) | gnomAD v4 |
| 4 | g.125317443G= | CA1491599861 | FAT4 | c.1032G= (p.Leu344=) c.-55+1466G= (n.-55+1466G=) | |
| 4 | g.125317443G>T | CA441366336 | FAT4 | c.1032G>T (p.Leu344=) c.-55+1466G>T (n.-55+1466G>T) | dbSNP gnomAD v2 |
| 4 | g.125317444G>A | CA358117049 | FAT4 | c.1033G>A (p.Asp345Asn) c.-55+1467G>A (n.-55+1467G>A) | |
| 4 | g.125317444G>C | CA358117050 | FAT4 | c.1033G>C (p.Asp345His) c.-55+1467G>C (n.-55+1467G>C) | |
| 4 | g.125317444G>T | CA358117051 | FAT4 | c.1033G>T (p.Asp345Tyr) c.-55+1467G>T (n.-55+1467G>T) | |
| 4 | g.125317445A= | CA1491599867 | FAT4 | c.1034A= (p.Asp345=) c.-55+1468A= (n.-55+1468A=) | |
| 4 | g.125317445A>C | CA358117052 | FAT4 | c.1034A>C (p.Asp345Ala) c.-55+1468A>C (n.-55+1468A>C) | |
| 4 | g.125317445A>G | CA358117053 | FAT4 | c.1034A>G (p.Asp345Gly) c.-55+1468A>G (n.-55+1468A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317445A>T | CA358117054 | FAT4 | c.1034A>T (p.Asp345Val) c.-55+1468A>T (n.-55+1468A>T) | |
| 4 | g.125317446del | CA2672009307 | FAT4 | c.1035del (p.Asp345GlufsTer2) c.-55+1469del (n.-55+1469del) | gnomAD v4 |
| 4 | g.125317446C>A | CA358117055 | FAT4 | c.1035C>A (p.Asp345Glu) c.-55+1469C>A (n.-55+1469C>A) | |
| 4 | g.125317446C= | CA1491599873 | FAT4 | c.1035C= (p.Asp345=) c.-55+1469C= (n.-55+1469C=) | |
| 4 | g.125317446C>G | CA358117056 | FAT4 | c.1035C>G (p.Asp345Glu) c.-55+1469C>G (n.-55+1469C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317446C>T | CA441366340 | FAT4 | c.1035C>T (p.Asp345=) c.-55+1469C>T (n.-55+1469C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317447G>A | CA358117057 | FAT4 | c.1036G>A (p.Val346Met) c.-55+1470G>A (n.-55+1470G>A) | dbSNP gnomAD v2 COSMIC COSMIC |
| 4 | g.125317447G>C | CA358117058 | FAT4 | c.1036G>C (p.Val346Leu) c.-55+1470G>C (n.-55+1470G>C) | dbSNP gnomAD v4 |
| 4 | g.125317447G= | CA1491599883 | FAT4 | c.1036G= (p.Val346=) c.-55+1470G= (n.-55+1470G=) | |
| 4 | g.125317447G>T | CA358117059 | FAT4 | c.1036G>T (p.Val346Leu) c.-55+1470G>T (n.-55+1470G>T) | |
| 4 | g.125317448T>A | CA358117062 | FAT4 | c.1037T>A (p.Val346Glu) c.-55+1471T>A (n.-55+1471T>A) | dbSNP |
| 4 | g.125317448T>C | CA358117060 | FAT4 | c.1037T>C (p.Val346Ala) c.-55+1471T>C (n.-55+1471T>C) | |
| 4 | g.125317448T>G | CA358117061 | FAT4 | c.1037T>G (p.Val346Gly) c.-55+1471T>G (n.-55+1471T>G) | |
| 4 | g.125317448T= | CA1491599891 | FAT4 | c.1037T= (p.Val346=) c.-55+1471T= (n.-55+1471T=) | |
| 4 | g.125317449G>A | CA441366342 | FAT4 | c.1038G>A (p.Val346=) c.-55+1472G>A (n.-55+1472G>A) | gnomAD v4 |
| 4 | g.125317449G>C | CA441366343 | FAT4 | c.1038G>C (p.Val346=) c.-55+1472G>C (n.-55+1472G>C) | |
| 4 | g.125317449G>T | CA441366344 | FAT4 | c.1038G>T (p.Val346=) c.-55+1472G>T (n.-55+1472G>T) | |
| 4 | g.125317450A>C | CA358117063 | FAT4 | c.1039A>C (p.Asn347His) c.-55+1473A>C (n.-55+1473A>C) | |
| 4 | g.125317450A>G | CA358117064 | FAT4 | c.1039A>G (p.Asn347Asp) c.-55+1473A>G (n.-55+1473A>G) | |
| 4 | g.125317450A>T | CA358117065 | FAT4 | c.1039A>T (p.Asn347Tyr) c.-55+1473A>T (n.-55+1473A>T) | |
| 4 | g.125317451A>C | CA358117066 | FAT4 | c.1040A>C (p.Asn347Thr) c.-55+1474A>C (n.-55+1474A>C) | |
| 4 | g.125317451A>G | CA358117067 | FAT4 | c.1040A>G (p.Asn347Ser) c.-55+1474A>G (n.-55+1474A>G) | |
| 4 | g.125317451A>T | CA358117068 | FAT4 | c.1040A>T (p.Asn347Ile) c.-55+1474A>T (n.-55+1474A>T) | |
| 4 | g.125317452T>A | CA358117069 | FAT4 | c.1041T>A (p.Asn347Lys) c.-55+1475T>A (n.-55+1475T>A) | |
| 4 | g.125317452T>C | CA441366348 | FAT4 | c.1041T>C (p.Asn347=) c.-55+1475T>C (n.-55+1475T>C) | |
| 4 | g.125317452T>G | CA358117070 | FAT4 | c.1041T>G (p.Asn347Lys) c.-55+1475T>G (n.-55+1475T>G) | |
| 4 | g.125317453G>A | CA358117071 | FAT4 | c.1042G>A (p.Asp348Asn) c.-55+1476G>A (n.-55+1476G>A) | |
| 4 | g.125317453G>C | CA358117072 | FAT4 | c.1042G>C (p.Asp348His) c.-55+1476G>C (n.-55+1476G>C) | |
| 4 | g.125317453G>T | CA358117073 | FAT4 | c.1042G>T (p.Asp348Tyr) c.-55+1476G>T (n.-55+1476G>T) | |
| 4 | g.125317454A>C | CA358117076 | FAT4 | c.1043A>C (p.Asp348Ala) c.-55+1477A>C (n.-55+1477A>C) | |
| 4 | g.125317454A>G | CA358117075 | FAT4 | c.1043A>G (p.Asp348Gly) c.-55+1477A>G (n.-55+1477A>G) | |
| 4 | g.125317454A>T | CA358117074 | FAT4 | c.1043A>T (p.Asp348Val) c.-55+1477A>T (n.-55+1477A>T) | gnomAD v4 |
| 4 | g.125317455C>A | CA358117078 | FAT4 | c.1044C>A (p.Asp348Glu) c.-55+1478C>A (n.-55+1478C>A) | COSMIC COSMIC |
| 4 | g.125317455C>G | CA358117077 | FAT4 | c.1044C>G (p.Asp348Glu) c.-55+1478C>G (n.-55+1478C>G) | |
| 4 | g.125317455C>T | CA441366351 | FAT4 | c.1044C>T (p.Asp348=) c.-55+1478C>T (n.-55+1478C>T) | |
| 4 | g.125317456A>C | CA358117079 | FAT4 | c.1045A>C (p.Asn349His) c.-55+1479A>C (n.-55+1479A>C) | |
| 4 | g.125317456A>G | CA358117080 | FAT4 | c.1045A>G (p.Asn349Asp) c.-55+1479A>G (n.-55+1479A>G) | |
| 4 | g.125317456A>T | CA358117081 | FAT4 | c.1045A>T (p.Asn349Tyr) c.-55+1479A>T (n.-55+1479A>T) | |
| 4 | g.125317457A>C | CA358117082 | FAT4 | c.1046A>C (p.Asn349Thr) c.-55+1480A>C (n.-55+1480A>C) | |
| 4 | g.125317457A>G | CA358117083 | FAT4 | c.1046A>G (p.Asn349Ser) c.-55+1480A>G (n.-55+1480A>G) | gnomAD v4 |
| 4 | g.125317457A>T | CA358117084 | FAT4 | c.1046A>T (p.Asn349Ile) c.-55+1480A>T (n.-55+1480A>T) | |
| 4 | g.125317458T>A | CA358117085 | FAT4 | c.1047T>A (p.Asn349Lys) c.-55+1481T>A (n.-55+1481T>A) | |
| 4 | g.125317458T>C | CA441366356 | FAT4 | c.1047T>C (p.Asn349=) c.-55+1481T>C (n.-55+1481T>C) | |
| 4 | g.125317458T>G | CA358117086 | FAT4 | c.1047T>G (p.Asn349Lys) c.-55+1481T>G (n.-55+1481T>G) | |
| 4 | g.125317459G>A | CA358117087 | FAT4 | c.1048G>A (p.Asp350Asn) c.-55+1482G>A (n.-55+1482G>A) | |
| 4 | g.125317459G>C | CA358117088 | FAT4 | c.1048G>C (p.Asp350His) c.-55+1482G>C (n.-55+1482G>C) | |
| 4 | g.125317459G>T | CA358117089 | FAT4 | c.1048G>T (p.Asp350Tyr) c.-55+1482G>T (n.-55+1482G>T) | |
| 4 | g.125317460A>C | CA358117092 | FAT4 | c.1049A>C (p.Asp350Ala) c.-55+1483A>C (n.-55+1483A>C) | |
| 4 | g.125317460A>G | CA358117091 | FAT4 | c.1049A>G (p.Asp350Gly) c.-55+1483A>G (n.-55+1483A>G) | |
| 4 | g.125317460A>T | CA358117090 | FAT4 | c.1049A>T (p.Asp350Val) c.-55+1483A>T (n.-55+1483A>T) | |
| 4 | g.125317461C>A | CA358117093 | FAT4 | c.1050C>A (p.Asp350Glu) c.-55+1484C>A (n.-55+1484C>A) | |
| 4 | g.125317461C= | CA1491599892 | FAT4 | c.1050C= (p.Asp350=) c.-55+1484C= (n.-55+1484C=) | |
| 4 | g.125317461C>G | CA358117094 | FAT4 | c.1050C>G (p.Asp350Glu) c.-55+1484C>G (n.-55+1484C>G) | |
| 4 | g.125317461C>T | CA3071906 | FAT4 | c.1050C>T (p.Asp350=) c.-55+1484C>T (n.-55+1484C>T) | dbSNP ExAC gnomAD v2 |
| 4 | g.125317462C>A | CA358117095 | FAT4 | c.1051C>A (p.Pro351Thr) c.-55+1485C>A (n.-55+1485C>A) | |
| 4 | g.125317462C= | CA1491599895 | FAT4 | c.1051C= (p.Pro351=) c.-55+1485C= (n.-55+1485C=) | |
| 4 | g.125317462C>G | CA3071907 | FAT4 | c.1051C>G (p.Pro351Ala) c.-55+1485C>G (n.-55+1485C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317462C>T | CA358117096 | FAT4 | c.1051C>T (p.Pro351Ser) c.-55+1485C>T (n.-55+1485C>T) | |
| 4 | g.125317463C>A | CA358117097 | FAT4 | c.1052C>A (p.Pro351Gln) c.-55+1486C>A (n.-55+1486C>A) | |
| 4 | g.125317463C= | CA1491599901 | FAT4 | c.1052C= (p.Pro351=) c.-55+1486C= (n.-55+1486C=) | |
| 4 | g.125317463C>G | CA358117098 | FAT4 | c.1052C>G (p.Pro351Arg) c.-55+1486C>G (n.-55+1486C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317463C>T | CA358117099 | FAT4 | c.1052C>T (p.Pro351Leu) c.-55+1486C>T (n.-55+1486C>T) | gnomAD v4 |
| 4 | g.125317464G>A | CA3071908 | FAT4 | c.1053G>A (p.Pro351=) c.-55+1487G>A (n.-55+1487G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317464G>C | CA441366362 | FAT4 | c.1053G>C (p.Pro351=) c.-55+1487G>C (n.-55+1487G>C) | dbSNP |
| 4 | g.125317464G= | CA1491599908 | FAT4 | c.1053G= (p.Pro351=) c.-55+1487G= (n.-55+1487G=) | |
| 4 | g.125317464G>T | CA441366363 | FAT4 | c.1053G>T (p.Pro351=) c.-55+1487G>T (n.-55+1487G>T) | |
| 4 | g.125317465G>A | CA3071909 | FAT4 | c.1054G>A (p.Val352Ile) c.-55+1488G>A (n.-55+1488G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317465G>C | CA358117100 | FAT4 | c.1054G>C (p.Val352Leu) c.-55+1488G>C (n.-55+1488G>C) | gnomAD v4 |
| 4 | g.125317465G= | CA1491599915 | FAT4 | c.1054G= (p.Val352=) c.-55+1488G= (n.-55+1488G=) | |
| 4 | g.125317465G>T | CA358117101 | FAT4 | c.1054G>T (p.Val352Leu) c.-55+1488G>T (n.-55+1488G>T) | |
| 4 | g.125317466T>A | CA358117103 | FAT4 | c.1055T>A (p.Val352Glu) c.-55+1489T>A (n.-55+1489T>A) | |
| 4 | g.125317466T>C | CA358117104 | FAT4 | c.1055T>C (p.Val352Ala) c.-55+1489T>C (n.-55+1489T>C) | |
| 4 | g.125317466T>G | CA358117102 | FAT4 | c.1055T>G (p.Val352Gly) c.-55+1489T>G (n.-55+1489T>G) | |
| 4 | g.125317467A>C | CA441366365 | FAT4 | c.1056A>C (p.Val352=) c.-55+1490A>C (n.-55+1490A>C) | |
| 4 | g.125317467A>G | CA441366367 | FAT4 | c.1056A>G (p.Val352=) c.-55+1490A>G (n.-55+1490A>G) | gnomAD v4 |
| 4 | g.125317467A>T | CA441366366 | FAT4 | c.1056A>T (p.Val352=) c.-55+1490A>T (n.-55+1490A>T) | |
| 4 | g.125317468G>A | CA358117105 | FAT4 | c.1057G>A (p.Val353Met) c.-55+1491G>A (n.-55+1491G>A) | gnomAD v4 |
| 4 | g.125317468G>C | CA358117106 | FAT4 | c.1057G>C (p.Val353Leu) c.-55+1491G>C (n.-55+1491G>C) | |
| 4 | g.125317468G>T | CA358117107 | FAT4 | c.1057G>T (p.Val353Leu) c.-55+1491G>T (n.-55+1491G>T) | |
| 4 | g.125317469T>A | CA358117108 | FAT4 | c.1058T>A (p.Val353Glu) c.-55+1492T>A (n.-55+1492T>A) | |
| 4 | g.125317469T>C | CA3071910 | FAT4 | c.1058T>C (p.Val353Ala) c.-55+1492T>C (n.-55+1492T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317469T>G | CA358117109 | FAT4 | c.1058T>G (p.Val353Gly) c.-55+1492T>G (n.-55+1492T>G) | |
| 4 | g.125317469T= | CA1491599918 | FAT4 | c.1058T= (p.Val353=) c.-55+1492T= (n.-55+1492T=) | |
| 4 | g.125317470G>A | CA441366370 | FAT4 | c.1059G>A (p.Val353=) c.-55+1493G>A (n.-55+1493G>A) | ClinVar |
| 4 | g.125317470G>C | CA441366372 | FAT4 | c.1059G>C (p.Val353=) c.-55+1493G>C (n.-55+1493G>C) | |
| 4 | g.125317470G>T | CA441366373 | FAT4 | c.1059G>T (p.Val353=) c.-55+1493G>T (n.-55+1493G>T) | |
| 4 | g.125317471A>C | CA358117112 | FAT4 | c.1060A>C (p.Lys354Gln) c.-55+1494A>C (n.-55+1494A>C) | |
| 4 | g.125317471A>G | CA358117111 | FAT4 | c.1060A>G (p.Lys354Glu) c.-55+1494A>G (n.-55+1494A>G) | |
| 4 | g.125317471A>T | CA358117110 | FAT4 | c.1060A>T (p.Lys354Ter) c.-55+1494A>T (n.-55+1494A>T) | |
| 4 | g.125317472A>C | CA358117113 | FAT4 | c.1061A>C (p.Lys354Thr) c.-55+1495A>C (n.-55+1495A>C) | |
| 4 | g.125317472A>G | CA358117114 | FAT4 | c.1061A>G (p.Lys354Arg) c.-55+1495A>G (n.-55+1495A>G) | gnomAD v4 |
| 4 | g.125317472A>T | CA358117115 | FAT4 | c.1061A>T (p.Lys354Met) c.-55+1495A>T (n.-55+1495A>T) | |
| 4 | g.125317473G>A | CA3071911 | FAT4 | c.1062G>A (p.Lys354=) c.-55+1496G>A (n.-55+1496G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317473G>C | CA358117116 | FAT4 | c.1062G>C (p.Lys354Asn) c.-55+1496G>C (n.-55+1496G>C) | gnomAD v4 |
| 4 | g.125317473G= | CA1491599926 | FAT4 | c.1062G= (p.Lys354=) c.-55+1496G= (n.-55+1496G=) | |
| 4 | g.125317473G>T | CA358117117 | FAT4 | c.1062G>T (p.Lys354Asn) c.-55+1496G>T (n.-55+1496G>T) | gnomAD v4 |
| 4 | g.125317474T>A | CA358117118 | FAT4 | c.1063T>A (p.Phe355Ile) c.-55+1497T>A (n.-55+1497T>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.125317474T>C | CA358117120 | FAT4 | c.1063T>C (p.Phe355Leu) c.-55+1497T>C (n.-55+1497T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317474T>G | CA358117119 | FAT4 | c.1063T>G (p.Phe355Val) c.-55+1497T>G (n.-55+1497T>G) | |
| 4 | g.125317474T= | CA1491599931 | FAT4 | c.1063T= (p.Phe355=) c.-55+1497T= (n.-55+1497T=) | |
| 4 | g.125317475T>A | CA358117121 | FAT4 | c.1064T>A (p.Phe355Tyr) c.-55+1498T>A (n.-55+1498T>A) | |
| 4 | g.125317475T>C | CA358117122 | FAT4 | c.1064T>C (p.Phe355Ser) c.-55+1498T>C (n.-55+1498T>C) | |
| 4 | g.125317475T>G | CA358117123 | FAT4 | c.1064T>G (p.Phe355Cys) c.-55+1498T>G (n.-55+1498T>G) | |
| 4 | g.125317476C>A | CA358117124 | FAT4 | c.1065C>A (p.Phe355Leu) c.-55+1499C>A (n.-55+1499C>A) | |
| 4 | g.125317476C>G | CA358117125 | FAT4 | c.1065C>G (p.Phe355Leu) c.-55+1499C>G (n.-55+1499C>G) | |
| 4 | g.125317476C>T | CA441366376 | FAT4 | c.1065C>T (p.Phe355=) c.-55+1499C>T (n.-55+1499C>T) | |
| 4 | g.125317477C>A | CA358117126 | FAT4 | c.1066C>A (p.Arg356Ser) c.-55+1500C>A (n.-55+1500C>A) | |
| 4 | g.125317477C= | CA1491599935 | FAT4 | c.1066C= (p.Arg356=) c.-55+1500C= (n.-55+1500C=) | |
| 4 | g.125317477C>G | CA358117127 | FAT4 | c.1066C>G (p.Arg356Gly) c.-55+1500C>G (n.-55+1500C>G) | gnomAD v4 |
| 4 | g.125317477C>T | CA104861787 | FAT4 | c.1066C>T (p.Arg356Cys) c.-55+1500C>T (n.-55+1500C>T) | dbSNP gnomAD v3 gnomAD v4 |