UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.22181421T>A | CA2289551849 | GATA6 | c.1303-32T>A (n.1303-32T>A) | dbSNP gnomAD v4 |
| 18 | g.22181421T= | CA2289551848 | GATA6 | c.1303-32T= (n.1303-32T=) | |
| 18 | g.22181423T>C | CA297153976 | GATA6 | c.1303-30T>C (n.1303-30T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.22181423T= | CA2289551850 | GATA6 | c.1303-30T= (n.1303-30T=) | |
| 18 | g.22181424T>C | CA628754051 | GATA6 | c.1303-29T>C (n.1303-29T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.22181424T= | CA2289551851 | GATA6 | c.1303-29T= (n.1303-29T=) | |
| 18 | g.22181425T>C | CA2641240142 | GATA6 | c.1303-28T>C (n.1303-28T>C) | gnomAD v4 |
| 18 | g.22181426C= | CA2289551852 | GATA6 | c.1303-27C= (n.1303-27C=) | |
| 18 | g.22181426C>T | CA777606234 | GATA6 | c.1303-27C>T (n.1303-27C>T) | dbSNP gnomAD v4 |
| 18 | g.22181428A= | CA2289551853 | GATA6 | c.1303-25A= (n.1303-25A=) | |
| 18 | g.22181428A>G | CA2289551854 | GATA6 | c.1303-25A>G (n.1303-25A>G) | dbSNP |
| 18 | g.22181429C= | CA2289551855 | GATA6 | c.1303-24C= (n.1303-24C=) | |
| 18 | g.22181429C>G | CA8908953 | GATA6 | c.1303-24C>G (n.1303-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181429C>T | CA297153998 | GATA6 | c.1303-24C>T (n.1303-24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181430T>A | CA2641240143 | GATA6 | c.1303-23T>A (n.1303-23T>A) | gnomAD v4 |
| 18 | g.22181431T>C | CA2289551857 | GATA6 | c.1303-22T>C (n.1303-22T>C) | dbSNP |
| 18 | g.22181431T= | CA2289551856 | GATA6 | c.1303-22T= (n.1303-22T=) | |
| 18 | g.22181432A= | CA2289551858 | GATA6 | c.1303-21A= (n.1303-21A=) | |
| 18 | g.22181432A>C | CA777606238 | GATA6 | c.1303-21A>C (n.1303-21A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.22181433T>C | CA988266699 | GATA6 | c.1303-20T>C (n.1303-20T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.22181433T= | CA2289551859 | GATA6 | c.1303-20T= (n.1303-20T=) | |
| 18 | g.22181434G>A | CA8908954 | GATA6 | c.1303-19G>A (n.1303-19G>A) | dbSNP ExAC |
| 18 | g.22181434G= | CA2289551860 | GATA6 | c.1303-19G= (n.1303-19G=) | |
| 18 | g.22181435T>A | CA2641240144 | GATA6 | c.1303-18T>A (n.1303-18T>A) | gnomAD v4 |
| 18 | g.22181437C>T | CA2811778632 | GATA6 | c.1303-16C>T (n.1303-16C>T) | |
| 18 | g.22181437_22181438delinsCT | CA2289551861 | GATA6 | c.1303-16_1303-15delinsCT (n.1303-16_1303-15delinsCT) | |
| 18 | g.22181439del | CA8908955 | GATA6 | c.1303-14del (n.1303-14del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181440del | CA2811778633 | GATA6 | c.1303-13del (n.1303-13del) | |
| 18 | g.22181440G>A | CA297154003 | GATA6 | c.1303-13G>A (n.1303-13G>A) | dbSNP gnomAD v4 |
| 18 | g.22181440G= | CA2289551862 | GATA6 | c.1303-13G= (n.1303-13G=) | |
| 18 | g.22181440G>T | CA2641240145 | GATA6 | c.1303-13G>T (n.1303-13G>T) | ClinVar gnomAD v4 |
| 18 | g.22181442A>G | CA2641240146 | GATA6 | c.1303-11A>G (n.1303-11A>G) | gnomAD v4 |
| 18 | g.22181443C>A | CA2641240147 | GATA6 | c.1303-10C>A (n.1303-10C>A) | gnomAD v4 |
| 18 | g.22181443C= | CA2289551863 | GATA6 | c.1303-10C= (n.1303-10C=) | |
| 18 | g.22181443C>G | CA2695227228 | GATA6 | c.1303-10C>G (n.1303-10C>G) | |
| 18 | g.22181443C>T | CA988266716 | GATA6 | c.1303-10C>T (n.1303-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.22181444T>C | CA2576468120 | GATA6 | c.1303-9T>C (n.1303-9T>C) | |
| 18 | g.22181445G>C | CA2641240148 | GATA6 | c.1303-8G>C (n.1303-8G>C) | ClinVar gnomAD v4 |
| 18 | g.22181447T>C | CA658799010 | GATA6 | c.1303-6T>C (n.1303-6T>C) | ClinVar dbSNP |
| 18 | g.22181447T= | CA2289551864 | GATA6 | c.1303-6T= (n.1303-6T=) | |
| 18 | g.22181449C= | CA2289551865 | GATA6 | c.1303-4C= (n.1303-4C=) | |
| 18 | g.22181449C>G | CA8908956 | GATA6 | c.1303-4C>G (n.1303-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181449C>T | CA777606271 | GATA6 | c.1303-4C>T (n.1303-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.22181450T>C | CA8908957 | GATA6 | c.1303-3T>C (n.1303-3T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181450T= | CA2289551866 | GATA6 | c.1303-3T= (n.1303-3T=) | |
| 18 | g.22181451A>C | CA401802264 | GATA6 | c.1303-2A>C (n.1303-2A>C) | |
| 18 | g.22181451A>G | CA401802265 | GATA6 | c.1303-2A>G (n.1303-2A>G) | |
| 18 | g.22181451A>T | CA401802266 | GATA6 | c.1303-2A>T (n.1303-2A>T) | |
| 18 | g.22181452G>A | CA401802267 | GATA6 | c.1303-1G>A (n.1303-1G>A) | |
| 18 | g.22181452G>C | CA401802268 | GATA6 | c.1303-1G>C (n.1303-1G>C) | |
| 18 | g.22181452G>T | CA401802269 | GATA6 | c.1303-1G>T (n.1303-1G>T) | |
| 18 | g.22181453C>A | CA401802270 | GATA6 | c.1303C>A (p.Pro435Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.22181453C= | CA2289551867 | GATA6 | c.1303C= (p.Pro435=) | |
| 18 | g.22181453C>G | CA401802271 | GATA6 | c.1303C>G (p.Pro435Ala) | |
| 18 | g.22181453C>T | CA401802272 | GATA6 | c.1303C>T (p.Pro435Ser) | |
| 18 | g.22181454C>A | CA401802273 | GATA6 | c.1304C>A (p.Pro435His) | |
| 18 | g.22181454C>G | CA401802274 | GATA6 | c.1304C>G (p.Pro435Arg) | |
| 18 | g.22181454C>T | CA401802275 | GATA6 | c.1304C>T (p.Pro435Leu) | |
| 18 | g.22181455T>A | CA503413338 | GATA6 | c.1305T>A (p.Pro435=) | |
| 18 | g.22181455T>C | CA503413339 | GATA6 | c.1305T>C (p.Pro435=) | |
| 18 | g.22181455T>G | CA503413340 | GATA6 | c.1305T>G (p.Pro435=) | |
| 18 | g.22181456T>A | CA401802278 | GATA6 | c.1306T>A (p.Ser436Thr) | |
| 18 | g.22181456T>C | CA401802276 | GATA6 | c.1306T>C (p.Ser436Pro) | |
| 18 | g.22181456T>G | CA401802277 | GATA6 | c.1306T>G (p.Ser436Ala) | |
| 18 | g.22181457C>A | CA401802279 | GATA6 | c.1307C>A (p.Ser436Ter) | |
| 18 | g.22181457C>G | CA401802281 | GATA6 | c.1307C>G (p.Ser436Ter) | |
| 18 | g.22181457C>T | CA401802280 | GATA6 | c.1307C>T (p.Ser436Leu) | |
| 18 | g.22181458A>C | CA503413341 | GATA6 | c.1308A>C (p.Ser436=) | |
| 18 | g.22181458A>G | CA503413342 | GATA6 | c.1308A>G (p.Ser436=) | gnomAD v4 COSMIC |
| 18 | g.22181458A>T | CA503413343 | GATA6 | c.1308A>T (p.Ser436=) | |
| 18 | g.22181459T>A | CA401802282 | GATA6 | c.1309T>A (p.Ser437Thr) | |
| 18 | g.22181459T>C | CA401802283 | GATA6 | c.1309T>C (p.Ser437Pro) | COSMIC |
| 18 | g.22181459T>G | CA401802284 | GATA6 | c.1309T>G (p.Ser437Ala) | |
| 18 | g.22181460C>A | CA401802285 | GATA6 | c.1310C>A (p.Ser437Ter) | |
| 18 | g.22181460C>G | CA401802286 | GATA6 | c.1310C>G (p.Ser437Ter) | |
| 18 | g.22181460C>T | CA401802287 | GATA6 | c.1310C>T (p.Ser437Leu) | |
| 18 | g.22181461A>C | CA503413344 | GATA6 | c.1311A>C (p.Ser437=) | |
| 18 | g.22181461A>G | CA503413345 | GATA6 | c.1311A>G (p.Ser437=) | |
| 18 | g.22181461A>T | CA503413346 | GATA6 | c.1311A>T (p.Ser437=) | |
| 18 | g.22181462C>A | CA503413347 | GATA6 | c.1312C>A (p.Arg438=) | |
| 18 | g.22181462C= | CA2289551868 | GATA6 | c.1312C= (p.Arg438=) | |
| 18 | g.22181462C>G | CA401802288 | GATA6 | c.1312C>G (p.Arg438Gly) | |
| 18 | g.22181462C>T | CA8908958 | GATA6 | c.1312C>T (p.Arg438Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181463G>A | CA8908959 | GATA6 | c.1313G>A (p.Arg438Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.22181463G>C | CA401802289 | GATA6 | c.1313G>C (p.Arg438Pro) | |
| 18 | g.22181463G= | CA2289551869 | GATA6 | c.1313G= (p.Arg438=) | |
| 18 | g.22181463G>T | CA401802290 | GATA6 | c.1313G>T (p.Arg438Leu) | gnomAD v4 |
| 18 | g.22181464G>A | CA8908960 | GATA6 | c.1314G>A (p.Arg438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181464G>C | CA503413348 | GATA6 | c.1314G>C (p.Arg438=) | |
| 18 | g.22181464G= | CA2289551870 | GATA6 | c.1314G= (p.Arg438=) | |
| 18 | g.22181464G>T | CA503413349 | GATA6 | c.1314G>T (p.Arg438=) | |
| 18 | g.22181465C>A | CA503413350 | GATA6 | c.1315C>A (p.Arg439=) | |
| 18 | g.22181465C= | CA2289551871 | GATA6 | c.1315C= (p.Arg439=) | |
| 18 | g.22181465C>G | CA401802291 | GATA6 | c.1315C>G (p.Arg439Gly) | |
| 18 | g.22181465C>T | CA401802292 | GATA6 | c.1315C>T (p.Arg439Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.22181466G>A | CA401802293 | GATA6 | c.1316G>A (p.Arg439Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181466G>C | CA401802294 | GATA6 | c.1316G>C (p.Arg439Pro) | |
| 18 | g.22181466G= | CA2289551872 | GATA6 | c.1316G= (p.Arg439=) | |
| 18 | g.22181466G>T | CA401802295 | GATA6 | c.1316G>T (p.Arg439Leu) | |
| 18 | g.22181467G>A | CA503413351 | GATA6 | c.1317G>A (p.Arg439=) | |
| 18 | g.22181467G>C | CA8908961 | GATA6 | c.1317G>C (p.Arg439=) | dbSNP ExAC gnomAD v2 |
| 18 | g.22181467G= | CA2289551873 | GATA6 | c.1317G= (p.Arg439=) | |
| 18 | g.22181467G>T | CA503413352 | GATA6 | c.1317G>T (p.Arg439=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.22181468C>A | CA401802296 | GATA6 | c.1318C>A (p.Leu440Ile) | |
| 18 | g.22181468C= | CA2289551874 | GATA6 | c.1318C= (p.Leu440=) | |
| 18 | g.22181468C>G | CA401802297 | GATA6 | c.1318C>G (p.Leu440Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181468C>T | CA401802298 | GATA6 | c.1318C>T (p.Leu440Phe) | |
| 18 | g.22181469T>A | CA401802299 | GATA6 | c.1319T>A (p.Leu440His) | |
| 18 | g.22181469T>C | CA401802300 | GATA6 | c.1319T>C (p.Leu440Pro) | |
| 18 | g.22181469T>G | CA401802301 | GATA6 | c.1319T>G (p.Leu440Arg) | |
| 18 | g.22181470T>A | CA8908962 | GATA6 | c.1320T>A (p.Leu440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181470T>C | CA8908963 | GATA6 | c.1320T>C (p.Leu440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181470T>G | CA503413353 | GATA6 | c.1320T>G (p.Leu440=) | |
| 18 | g.22181470T= | CA2289551875 | GATA6 | c.1320T= (p.Leu440=) | |
| 18 | g.22181471G>A | CA401802302 | GATA6 | c.1321G>A (p.Gly441Arg) | |
| 18 | g.22181471G>C | CA401802304 | GATA6 | c.1321G>C (p.Gly441Arg) | |
| 18 | g.22181471G>T | CA401802303 | GATA6 | c.1321G>T (p.Gly441Ter) | ClinVar dbSNP |
| 18 | g.22181472G>A | CA401802305 | GATA6 | c.1322G>A (p.Gly441Glu) | |
| 18 | g.22181472G>C | CA401802307 | GATA6 | c.1322G>C (p.Gly441Ala) | |
| 18 | g.22181472G>T | CA401802306 | GATA6 | c.1322G>T (p.Gly441Val) | gnomAD v4 |
| 18 | g.22181473A>C | CA503413354 | GATA6 | c.1323A>C (p.Gly441=) | |
| 18 | g.22181473A>G | CA503413355 | GATA6 | c.1323A>G (p.Gly441=) | |
| 18 | g.22181473A>T | CA503413356 | GATA6 | c.1323A>T (p.Gly441=) | |
| 18 | g.22181474T>A | CA401802308 | GATA6 | c.1324T>A (p.Leu442Met) | |
| 18 | g.22181474T>C | CA503413357 | GATA6 | c.1324T>C (p.Leu442=) | dbSNP gnomAD v4 |
| 18 | g.22181474T>G | CA401802309 | GATA6 | c.1324T>G (p.Leu442Val) | |
| 18 | g.22181474T= | CA2289551876 | GATA6 | c.1324T= (p.Leu442=) | |
| 18 | g.22181475T>A | CA401802310 | GATA6 | c.1325T>A (p.Leu442Ter) | |
| 18 | g.22181475T>C | CA401802311 | GATA6 | c.1325T>C (p.Leu442Ser) | gnomAD v4 |
| 18 | g.22181475T>G | CA401802312 | GATA6 | c.1325T>G (p.Leu442Trp) | |
| 18 | g.22181476G>A | CA503413358 | GATA6 | c.1326G>A (p.Leu442=) | gnomAD v4 |
| 18 | g.22181476G>C | CA401802313 | GATA6 | c.1326G>C (p.Leu442Phe) | |
| 18 | g.22181476G>T | CA401802314 | GATA6 | c.1326G>T (p.Leu442Phe) | |
| 18 | g.22181477T>A | CA401802315 | GATA6 | c.1327T>A (p.Ser443Thr) | gnomAD v4 |
| 18 | g.22181477T>C | CA401802316 | GATA6 | c.1327T>C (p.Ser443Pro) | |
| 18 | g.22181477T>G | CA401802317 | GATA6 | c.1327T>G (p.Ser443Ala) | gnomAD v4 |
| 18 | g.22181478C>A | CA401802318 | GATA6 | c.1328C>A (p.Ser443Tyr) | gnomAD v4 |
| 18 | g.22181478C>G | CA401802319 | GATA6 | c.1328C>G (p.Ser443Cys) | |
| 18 | g.22181478C>T | CA401802320 | GATA6 | c.1328C>T (p.Ser443Phe) | |
| 18 | g.22181479C>A | CA503413359 | GATA6 | c.1329C>A (p.Ser443=) | |
| 18 | g.22181479C= | CA2289551877 | GATA6 | c.1329C= (p.Ser443=) | |
| 18 | g.22181479C>G | CA503413360 | GATA6 | c.1329C>G (p.Ser443=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.22181479C>T | CA8908964 | GATA6 | c.1329C>T (p.Ser443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181480T>A | CA401802321 | GATA6 | c.1330T>A (p.Cys444Ser) | |
| 18 | g.22181480T>C | CA401802322 | GATA6 | c.1330T>C (p.Cys444Arg) | |
| 18 | g.22181480T>G | CA401802323 | GATA6 | c.1330T>G (p.Cys444Gly) | |
| 18 | g.22181481G>A | CA401802324 | GATA6 | c.1331G>A (p.Cys444Tyr) | |
| 18 | g.22181481G>C | CA401802325 | GATA6 | c.1331G>C (p.Cys444Ser) | |
| 18 | g.22181481G>T | CA401802326 | GATA6 | c.1331G>T (p.Cys444Phe) | |
| 18 | g.22181482T>A | CA401802327 | GATA6 | c.1332T>A (p.Cys444Ter) | |
| 18 | g.22181482T>C | CA503413361 | GATA6 | c.1332T>C (p.Cys444=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.22181482T>G | CA401802328 | GATA6 | c.1332T>G (p.Cys444Trp) | |
| 18 | g.22181482T= | CA2289551878 | GATA6 | c.1332T= (p.Cys444=) | |
| 18 | g.22181483G>A | CA401802329 | GATA6 | c.1333G>A (p.Ala445Thr) | |
| 18 | g.22181483G>C | CA401802330 | GATA6 | c.1333G>C (p.Ala445Pro) | |
| 18 | g.22181483G>T | CA401802331 | GATA6 | c.1333G>T (p.Ala445Ser) | |
| 18 | g.22181484C>A | CA401802334 | GATA6 | c.1334C>A (p.Ala445Asp) | |
| 18 | g.22181484C>G | CA401802333 | GATA6 | c.1334C>G (p.Ala445Gly) | |
| 18 | g.22181484C>T | CA401802332 | GATA6 | c.1334C>T (p.Ala445Val) | |
| 18 | g.22181485C>A | CA503413362 | GATA6 | c.1335C>A (p.Ala445=) | gnomAD v4 |
| 18 | g.22181485C>G | CA503413363 | GATA6 | c.1335C>G (p.Ala445=) | |
| 18 | g.22181485C>T | CA503413364 | GATA6 | c.1335C>T (p.Ala445=) | gnomAD v4 |
| 18 | g.22181486A>C | CA401802335 | GATA6 | c.1336A>C (p.Asn446His) | |
| 18 | g.22181486A>G | CA401802336 | GATA6 | c.1336A>G (p.Asn446Asp) | ClinVar dbSNP |
| 18 | g.22181486A>T | CA401802337 | GATA6 | c.1336A>T (p.Asn446Tyr) | |
| 18 | g.22181487A>C | CA401802338 | GATA6 | c.1337A>C (p.Asn446Thr) | |
| 18 | g.22181487A>G | CA401802339 | GATA6 | c.1337A>G (p.Asn446Ser) | |
| 18 | g.22181487A>T | CA401802340 | GATA6 | c.1337A>T (p.Asn446Ile) | |
| 18 | g.22181488C>A | CA401802341 | GATA6 | c.1338C>A (p.Asn446Lys) | |
| 18 | g.22181488C= | CA2289551879 | GATA6 | c.1338C= (p.Asn446=) | |
| 18 | g.22181488C>G | CA401802342 | GATA6 | c.1338C>G (p.Asn446Lys) | |
| 18 | g.22181488C>T | CA297154038 | GATA6 | c.1338C>T (p.Asn446=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181489T>A | CA401802343 | GATA6 | c.1339T>A (p.Cys447Ser) | |
| 18 | g.22181489T>C | CA401802344 | GATA6 | c.1339T>C (p.Cys447Arg) | |
| 18 | g.22181489T>G | CA401802345 | GATA6 | c.1339T>G (p.Cys447Gly) | |
| 18 | g.22181490G>A | CA401802346 | GATA6 | c.1340G>A (p.Cys447Tyr) | |
| 18 | g.22181490G>C | CA401802347 | GATA6 | c.1340G>C (p.Cys447Ser) | |
| 18 | g.22181490G>T | CA401802348 | GATA6 | c.1340G>T (p.Cys447Phe) | |
| 18 | g.22181491T>A | CA401802349 | GATA6 | c.1341T>A (p.Cys447Ter) | |
| 18 | g.22181491T>C | CA297154043 | GATA6 | c.1341T>C (p.Cys447=) | dbSNP |
| 18 | g.22181491T>G | CA401802350 | GATA6 | c.1341T>G (p.Cys447Trp) | |
| 18 | g.22181491T= | CA2289551880 | GATA6 | c.1341T= (p.Cys447=) | |
| 18 | g.22181492C>A | CA401802351 | GATA6 | c.1342C>A (p.His448Asn) | |
| 18 | g.22181492C= | CA2289551881 | GATA6 | c.1342C= (p.His448=) | |
| 18 | g.22181492C>G | CA401802352 | GATA6 | c.1342C>G (p.His448Asp) | |
| 18 | g.22181492C>T | CA8908965 | GATA6 | c.1342C>T (p.His448Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181493A= | CA2289551882 | GATA6 | c.1343A= (p.His448=) | |
| 18 | g.22181493A>C | CA401802353 | GATA6 | c.1343A>C (p.His448Pro) | ClinVar dbSNP |
| 18 | g.22181493A>G | CA401802354 | GATA6 | c.1343A>G (p.His448Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.22181493A>T | CA401802355 | GATA6 | c.1343A>T (p.His448Leu) | |
| 18 | g.22181494C>A | CA401802356 | GATA6 | c.1344C>A (p.His448Gln) | |
| 18 | g.22181494C= | CA2289551883 | GATA6 | c.1344C= (p.His448=) | |
| 18 | g.22181494C>G | CA401802357 | GATA6 | c.1344C>G (p.His448Gln) | |
| 18 | g.22181494C>T | CA503413365 | GATA6 | c.1344C>T (p.His448=) | dbSNP |
| 18 | g.22181494_22181503delinsCACCACAACT | CA2289551884 | GATA6 | c.1344_1353delinsCACCACAACT (p.His448=) | |
| 18 | g.22181495A>C | CA401802358 | GATA6 | c.1345A>C (p.Thr449Pro) | |
| 18 | g.22181495A>G | CA401802359 | GATA6 | c.1345A>G (p.Thr449Ala) | |
| 18 | g.22181495A>T | CA401802360 | GATA6 | c.1345A>T (p.Thr449Ser) | |
| 18 | g.22181500_22181508del | CA2289551885 | GATA6 | c.1350_1358del (p.Thr451_Thr453del) | ClinVar dbSNP |
| 18 | g.22181496C>A | CA401802363 | GATA6 | c.1346C>A (p.Thr449Asn) | |
| 18 | g.22181496C= | CA2289551886 | GATA6 | c.1346C= (p.Thr449=) | |
| 18 | g.22181496C>G | CA401802362 | GATA6 | c.1346C>G (p.Thr449Ser) | dbSNP |
| 18 | g.22181496C>T | CA401802361 | GATA6 | c.1346C>T (p.Thr449Ile) | |
| 18 | g.22181497C>A | CA503413366 | GATA6 | c.1347C>A (p.Thr449=) | gnomAD v4 |
| 18 | g.22181497C>G | CA503413367 | GATA6 | c.1347C>G (p.Thr449=) | gnomAD v4 |
| 18 | g.22181497C>T | CA503413368 | GATA6 | c.1347C>T (p.Thr449=) | |
| 18 | g.22181498A= | CA2289551887 | GATA6 | c.1348A= (p.Thr450=) | |
| 18 | g.22181498A>C | CA401802364 | GATA6 | c.1348A>C (p.Thr450Pro) | |
| 18 | g.22181498A>G | CA401802366 | GATA6 | c.1348A>G (p.Thr450Ala) | dbSNP |
| 18 | g.22181498A>T | CA401802365 | GATA6 | c.1348A>T (p.Thr450Ser) | |
| 18 | g.22181499C>A | CA401802367 | GATA6 | c.1349C>A (p.Thr450Lys) | |
| 18 | g.22181499C= | CA2289551888 | GATA6 | c.1349C= (p.Thr450=) | |
| 18 | g.22181499C>G | CA8908966 | GATA6 | c.1349C>G (p.Thr450Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.22181499C>T | CA401802368 | GATA6 | c.1349C>T (p.Thr450Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181500A= | CA2289551889 | GATA6 | c.1350A= (p.Thr450=) | |
| 18 | g.22181500A>C | CA503413370 | GATA6 | c.1350A>C (p.Thr450=) | |
| 18 | g.22181500A>G | CA8908967 | GATA6 | c.1350A>G (p.Thr450=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.22181500A>T | CA503413369 | GATA6 | c.1350A>T (p.Thr450=) | |
| 18 | g.22181501A>C | CA401802369 | GATA6 | c.1351A>C (p.Thr451Pro) | |
| 18 | g.22181501A>G | CA401802370 | GATA6 | c.1351A>G (p.Thr451Ala) | COSMIC |
| 18 | g.22181501A>T | CA401802371 | GATA6 | c.1351A>T (p.Thr451Ser) | |
| 18 | g.22181502C>A | CA401802372 | GATA6 | c.1352C>A (p.Thr451Asn) | |
| 18 | g.22181502C>G | CA401802373 | GATA6 | c.1352C>G (p.Thr451Ser) | |
| 18 | g.22181502C>T | CA401802374 | GATA6 | c.1352C>T (p.Thr451Ile) | |
| 18 | g.22181503T>A | CA503413373 | GATA6 | c.1353T>A (p.Thr451=) | |
| 18 | g.22181503T>C | CA503413371 | GATA6 | c.1353T>C (p.Thr451=) | |
| 18 | g.22181503T>G | CA503413372 | GATA6 | c.1353T>G (p.Thr451=) | |
| 18 | g.22181504A= | CA2289551890 | GATA6 | c.1354A= (p.Thr452=) | |
| 18 | g.22181504A>C | CA401802375 | GATA6 | c.1354A>C (p.Thr452Pro) | |
| 18 | g.22181504A>G | CA129027 | GATA6 | c.1354A>G (p.Thr452Ala) | ClinVar dbSNP |
| 18 | g.22181504A>T | CA401802376 | GATA6 | c.1354A>T (p.Thr452Ser) | |
| 18 | g.22181505C>A | CA401802379 | GATA6 | c.1355C>A (p.Thr452Asn) | |
| 18 | g.22181505C>G | CA401802378 | GATA6 | c.1355C>G (p.Thr452Ser) | |
| 18 | g.22181505C>T | CA401802377 | GATA6 | c.1355C>T (p.Thr452Ile) | |
| 18 | g.22181506C>A | CA503413374 | GATA6 | c.1356C>A (p.Thr452=) | gnomAD v4 |
| 18 | g.22181506C>G | CA503413376 | GATA6 | c.1356C>G (p.Thr452=) | |
| 18 | g.22181506C>T | CA503413375 | GATA6 | c.1356C>T (p.Thr452=) | gnomAD v4 |
| 18 | g.22181507A>C | CA401802380 | GATA6 | c.1357A>C (p.Thr453Pro) | |
| 18 | g.22181507A>G | CA401802381 | GATA6 | c.1357A>G (p.Thr453Ala) | |
| 18 | g.22181507A>T | CA401802382 | GATA6 | c.1357A>T (p.Thr453Ser) | |
| 18 | g.22181508C>A | CA401802383 | GATA6 | c.1358C>A (p.Thr453Asn) | |
| 18 | g.22181508C= | CA2289551891 | GATA6 | c.1358C= (p.Thr453=) | |
| 18 | g.22181508C>G | CA401802384 | GATA6 | c.1358C>G (p.Thr453Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.22181508C>T | CA401802385 | GATA6 | c.1358C>T (p.Thr453Ile) | gnomAD v4 |
| 18 | g.22181508_22181509delinsTT | CA645600287 | GATA6 | c.1358_1359delinsTT (p.Thr453Ile) | COSMIC |
| 18 | g.22181509C>A | CA503413377 | GATA6 | c.1359C>A (p.Thr453=) | |
| 18 | g.22181509C= | CA2289551892 | GATA6 | c.1359C= (p.Thr453=) | |
| 18 | g.22181509C>G | CA503413378 | GATA6 | c.1359C>G (p.Thr453=) | |
| 18 | g.22181509C>T | CA503413379 | GATA6 | c.1359C>T (p.Thr453=) | dbSNP |
| 18 | g.22181510T>A | CA401802386 | GATA6 | c.1360T>A (p.Leu454Ile) | |
| 18 | g.22181510T>C | CA503413380 | GATA6 | c.1360T>C (p.Leu454=) | |
| 18 | g.22181510T>G | CA401802387 | GATA6 | c.1360T>G (p.Leu454Val) | COSMIC |
| 18 | g.22181511T>A | CA401802388 | GATA6 | c.1361T>A (p.Leu454Ter) | |
| 18 | g.22181511T>C | CA401802389 | GATA6 | c.1361T>C (p.Leu454Ser) | |
| 18 | g.22181511T>G | CA401802390 | GATA6 | c.1361T>G (p.Leu454Ter) | |
| 18 | g.22181512A= | CA2289551893 | GATA6 | c.1362A= (p.Leu454=) | |
| 18 | g.22181512A>C | CA401802392 | GATA6 | c.1362A>C (p.Leu454Phe) | |
| 18 | g.22181512A>G | CA8908968 | GATA6 | c.1362A>G (p.Leu454=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.22181512A>T | CA401802391 | GATA6 | c.1362A>T (p.Leu454Phe) | |
| 18 | g.22181513T>A | CA401802393 | GATA6 | c.1363T>A (p.Trp455Arg) | |
| 18 | g.22181513T>C | CA401802394 | GATA6 | c.1363T>C (p.Trp455Arg) | |
| 18 | g.22181513T>G | CA401802395 | GATA6 | c.1363T>G (p.Trp455Gly) | |
| 18 | g.22181514G>A | CA401802396 | GATA6 | c.1364G>A (p.Trp455Ter) | |
| 18 | g.22181514G>C | CA401802397 | GATA6 | c.1364G>C (p.Trp455Ser) | |
| 18 | g.22181514G>T | CA401802398 | GATA6 | c.1364G>T (p.Trp455Leu) | |
| 18 | g.22181515G>A | CA401802399 | GATA6 | c.1365G>A (p.Trp455Ter) | |
| 18 | g.22181515G>C | CA401802400 | GATA6 | c.1365G>C (p.Trp455Cys) | |
| 18 | g.22181515G>T | CA401802401 | GATA6 | c.1365G>T (p.Trp455Cys) | |
| 18 | g.22181516C>A | CA401802402 | GATA6 | c.1366C>A (p.Arg456Ser) | |
| 18 | g.22181516C= | CA2289551894 | GATA6 | c.1366C= (p.Arg456=) | |
| 18 | g.22181516C>G | CA401802403 | GATA6 | c.1366C>G (p.Arg456Gly) | |
| 18 | g.22181516C>T | CA129029 | GATA6 | c.1366C>T (p.Arg456Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.22181517G>A | CA129030 | GATA6 | c.1367G>A (p.Arg456His) | ClinVar dbSNP COSMIC |
| 18 | g.22181517G>C | CA401802405 | GATA6 | c.1367G>C (p.Arg456Pro) | |
| 18 | g.22181517G= | CA2289551895 | GATA6 | c.1367G= (p.Arg456=) | |
| 18 | g.22181517G>T | CA401802404 | GATA6 | c.1367G>T (p.Arg456Leu) | ClinVar |
| 18 | g.22181518C>A | CA503413381 | GATA6 | c.1368C>A (p.Arg456=) | |
| 18 | g.22181518C>G | CA503413382 | GATA6 | c.1368C>G (p.Arg456=) | |
| 18 | g.22181518C>T | CA503413383 | GATA6 | c.1368C>T (p.Arg456=) | gnomAD v4 |
| 18 | g.22181519A>C | CA503413384 | GATA6 | c.1369A>C (p.Arg457=) | |
| 18 | g.22181519A>G | CA401802406 | GATA6 | c.1369A>G (p.Arg457Gly) | |
| 18 | g.22181519A>T | CA401802407 | GATA6 | c.1369A>T (p.Arg457Ter) | |
| 18 | g.22181520G>A | CA401802408 | GATA6 | c.1370G>A (p.Arg457Lys) | |
| 18 | g.22181520G>C | CA401802409 | GATA6 | c.1370G>C (p.Arg457Thr) | |
| 18 | g.22181520G>T | CA401802410 | GATA6 | c.1370G>T (p.Arg457Ile) | |
| 18 | g.22181521A>C | CA401802412 | GATA6 | c.1371A>C (p.Arg457Ser) | |
| 18 | g.22181521A>G | CA503413385 | GATA6 | c.1371A>G (p.Arg457=) | |
| 18 | g.22181521A>T | CA401802411 | GATA6 | c.1371A>T (p.Arg457Ser) |