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 |
|---|---|---|---|---|---|
| 12 | g.49089825C>A | CA605234136 | DHH | c.*34G>T (n.*34G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089825C= | CA2034981864 | DHH | c.*34G= (n.*34G=) | |
| 12 | g.49089825C>T | CA2618613588 | DHH | c.*34G>A (n.*34G>A) | gnomAD v4 |
| 12 | g.49089826T>C | CA2618613590 | DHH | c.*33A>G (n.*33A>G) | gnomAD v4 |
| 12 | g.49089827C>A | CA2618613591 | DHH | c.*32G>T (n.*32G>T) | gnomAD v4 |
| 12 | g.49089827C= | CA2034981865 | DHH | c.*32G= (n.*32G=) | |
| 12 | g.49089827C>T | CA689553549 | DHH | c.*32G>A (n.*32G>A) | dbSNP gnomAD v4 |
| 12 | g.49089828G>A | CA2034981867 | DHH | c.*31C>T (n.*31C>T) | dbSNP gnomAD v4 |
| 12 | g.49089828G= | CA2034981866 | DHH | c.*31C= (n.*31C=) | |
| 12 | g.49089828G>T | CA2618613596 | DHH | c.*31C>A (n.*31C>A) | gnomAD v4 |
| 12 | g.49089829G>A | CA2618613599 | DHH | c.*30C>T (n.*30C>T) | gnomAD v4 |
| 12 | g.49089829G>T | CA2618613600 | DHH | c.*30C>A (n.*30C>A) | gnomAD v4 |
| 12 | g.49089830G>T | CA2618613602 | DHH | c.*29C>A (n.*29C>A) | gnomAD v4 |
| 12 | g.49089831C>A | CA2618613606 | DHH | c.*28G>T (n.*28G>T) | gnomAD v4 |
| 12 | g.49089831C= | CA2034981868 | DHH | c.*28G= (n.*28G=) | |
| 12 | g.49089831C>G | CA2618613607 | DHH | c.*28G>C (n.*28G>C) | gnomAD v4 |
| 12 | g.49089831C>T | CA689553550 | DHH | c.*28G>A (n.*28G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49089832G>A | CA2618613610 | DHH | c.*27C>T (n.*27C>T) | gnomAD v4 |
| 12 | g.49089832G= | CA2034981869 | DHH | c.*27C= (n.*27C=) | |
| 12 | g.49089832G>T | CA6549062 | DHH | c.*27C>A (n.*27C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089833C>A | CA2618613613 | DHH | c.*26G>T (n.*26G>T) | gnomAD v4 |
| 12 | g.49089833C>T | CA2618613614 | DHH | c.*26G>A (n.*26G>A) | gnomAD v4 |
| 12 | g.49089834T>C | CA2034981871 | DHH | c.*25A>G (n.*25A>G) | dbSNP gnomAD v4 |
| 12 | g.49089834T= | CA2034981870 | DHH | c.*25A= (n.*25A=) | |
| 12 | g.49089835T>C | CA2618613616 | DHH | c.*24A>G (n.*24A>G) | gnomAD v4 |
| 12 | g.49089836C>T | CA2618613617 | DHH | c.*23G>A (n.*23G>A) | gnomAD v4 |
| 12 | g.49089837G>A | CA2618613618 | DHH | c.*22C>T (n.*22C>T) | gnomAD v4 |
| 12 | g.49089837G>C | CA2618613621 | DHH | c.*22C>G (n.*22C>G) | gnomAD v4 |
| 12 | g.49089837G>T | CA2618613619 | DHH | c.*22C>A (n.*22C>A) | gnomAD v4 |
| 12 | g.49089839G>A | CA2618613624 | DHH | c.*20C>T (n.*20C>T) | gnomAD v4 |
| 12 | g.49089839G>T | CA2618613626 | DHH | c.*20C>A (n.*20C>A) | gnomAD v4 |
| 12 | g.49089840G>A | CA6549063 | DHH | c.*19C>T (n.*19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089840G= | CA2034981872 | DHH | c.*19C= (n.*19C=) | |
| 12 | g.49089840G>T | CA2618613628 | DHH | c.*19C>A (n.*19C>A) | gnomAD v4 |
| 12 | g.49089841T>C | CA2618613630 | DHH | c.*18A>G (n.*18A>G) | gnomAD v4 |
| 12 | g.49089842T>C | CA2618613632 | DHH | c.*17A>G (n.*17A>G) | gnomAD v4 |
| 12 | g.49089843T>C | CA605234137 | DHH | c.*16A>G (n.*16A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089843T>G | CA2618613636 | DHH | c.*16A>C (n.*16A>C) | gnomAD v4 |
| 12 | g.49089843T= | CA2034981873 | DHH | c.*16A= (n.*16A=) | |
| 12 | g.49089844C>A | CA2618613637 | DHH | c.*15G>T (n.*15G>T) | gnomAD v4 |
| 12 | g.49089844C= | CA2034981874 | DHH | c.*15G= (n.*15G=) | |
| 12 | g.49089844C>G | CA605234138 | DHH | c.*15G>C (n.*15G>C) | dbSNP gnomAD v2 |
| 12 | g.49089845T>C | CA2618613639 | DHH | c.*14A>G (n.*14A>G) | gnomAD v4 |
| 12 | g.49089846A= | CA2034981875 | DHH | c.*13T= (n.*13T=) | |
| 12 | g.49089846A>G | CA689553551 | DHH | c.*13T>C (n.*13T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49089847T>A | CA2575145398 | DHH | c.*12A>T (n.*12A>T) | |
| 12 | g.49089847T>C | CA236651291 | DHH | c.*12A>G (n.*12A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089847T= | CA2034981876 | DHH | c.*12A= (n.*12A=) | |
| 12 | g.49089848G= | CA2034981877 | DHH | c.*11C= (n.*11C=) | |
| 12 | g.49089848G>T | CA236651293 | DHH | c.*11C>A (n.*11C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49089848_49089849delinsGC | CA2034981878 | DHH | c.*10_*11delinsGC (n.*10_*11delinsGC) | |
| 12 | g.49089849C>A | CA2618613650 | DHH | c.*10G>T (n.*10G>T) | gnomAD v4 |
| 12 | g.49089849C>T | CA2618613649 | DHH | c.*10G>A (n.*10G>A) | gnomAD v4 |
| 12 | g.49089850del | CA6549064 | DHH | c.*10del (n.*10del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.49089850C>A | CA2618613655 | DHH | c.*9G>T (n.*9G>T) | gnomAD v4 |
| 12 | g.49089851T>C | CA2575145399 | DHH | c.*8A>G (n.*8A>G) | gnomAD v4 |
| 12 | g.49089851T>G | CA2618613656 | DHH | c.*8A>C (n.*8A>C) | gnomAD v4 |
| 12 | g.49089852G>A | CA2618613657 | DHH | c.*7C>T (n.*7C>T) | gnomAD v4 |
| 12 | g.49089852G>T | CA2575145400 | DHH | c.*7C>A (n.*7C>A) | gnomAD v4 |
| 12 | g.49089853G>A | CA2618613658 | DHH | c.*6C>T (n.*6C>T) | gnomAD v4 |
| 12 | g.49089853G>C | CA6549065 | DHH | c.*6C>G (n.*6C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089853G= | CA2034981879 | DHH | c.*6C= (n.*6C=) | |
| 12 | g.49089853G>T | CA2618613661 | DHH | c.*6C>A (n.*6C>A) | gnomAD v4 |
| 12 | g.49089854G>A | CA6549066 | DHH | c.*5C>T (n.*5C>T) | dbSNP ExAC gnomAD v4 |
| 12 | g.49089854G= | CA2034981880 | DHH | c.*5C= (n.*5C=) | |
| 12 | g.49089854G>T | CA2618613663 | DHH | c.*5C>A (n.*5C>A) | gnomAD v4 |
| 12 | g.49089855A= | CA2034981881 | DHH | c.*4T= (n.*4T=) | |
| 12 | g.49089855A>C | CA2034981882 | DHH | c.*4T>G (n.*4T>G) | dbSNP |
| 12 | g.49089855A>G | CA2618613664 | DHH | c.*4T>C (n.*4T>C) | gnomAD v4 |
| 12 | g.49089855A>T | CA2618613666 | DHH | c.*4T>A (n.*4T>A) | gnomAD v4 |
| 12 | g.49089856C>A | CA605234139 | DHH | c.*3G>T (n.*3G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089856C= | CA2034981883 | DHH | c.*3G= (n.*3G=) | |
| 12 | g.49089856C>G | CA689553552 | DHH | c.*3G>C (n.*3G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49089856C>T | CA605234140 | DHH | c.*3G>A (n.*3G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089857G>A | CA2618613669 | DHH | c.*2C>T (n.*2C>T) | gnomAD v4 |
| 12 | g.49089857G>C | CA2505216117 | DHH | c.*2C>G (n.*2C>G) | |
| 12 | g.49089857G>T | CA2618613670 | DHH | c.*2C>A (n.*2C>A) | gnomAD v4 |
| 12 | g.49089858C>T | CA2618613671 | DHH | c.*1G>A (n.*1G>A) | gnomAD v4 |
| 12 | g.49089859T>A | CA384713373 | DHH | c.1191A>T (p.Ter397Cys) c.1050A>T (p.Ter350Cys) c.849A>T (p.Ter283Cys) | |
| 12 | g.49089859T>C | CA236651315 | DHH | c.1191A>G (p.Ter397Trp) c.1050A>G (p.Ter350Trp) c.849A>G (p.Ter283Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089859T>G | CA384713383 | DHH | c.1191A>C (p.Ter397Cys) c.1050A>C (p.Ter350Cys) c.849A>C (p.Ter283Cys) | |
| 12 | g.49089859T= | CA2034981884 | DHH | c.1191A= (p.Ter397=) c.1050A= (p.Ter350=) c.849A= (p.Ter283=) | |
| 12 | g.49089860C>A | CA384713386 | DHH | c.1190G>T (p.Ter397Leu) c.1049G>T (p.Ter350Leu) c.848G>T (p.Ter283Leu) | gnomAD v4 |
| 12 | g.49089860C= | CA2034981885 | DHH | c.1190G= (p.Ter397=) c.1049G= (p.Ter350=) c.848G= (p.Ter283=) | |
| 12 | g.49089860C>G | CA384713387 | DHH | c.1190G>C (p.Ter397Ser) c.1049G>C (p.Ter350Ser) c.848G>C (p.Ter283Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49089860C>T | CA479715672 | DHH | c.1190G>A (p.Ter397=) c.1049G>A (p.Ter350=) c.848G>A (p.Ter283=) | gnomAD v4 |
| 12 | g.49089861A= | CA2034981886 | DHH | c.1189T= (p.Ter397=) c.1048T= (p.Ter350=) c.847T= (p.Ter283=) | |
| 12 | g.49089861A>C | CA384713388 | DHH | c.1189T>G (p.Ter397Gly) c.1048T>G (p.Ter350Gly) c.847T>G (p.Ter283Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089861A>G | CA384713389 | DHH | c.1189T>C (p.Ter397Arg) c.1048T>C (p.Ter350Arg) c.847T>C (p.Ter283Arg) | |
| 12 | g.49089861A>T | CA384713390 | DHH | c.1189T>A (p.Ter397Arg) c.1048T>A (p.Ter350Arg) c.847T>A (p.Ter283Arg) | |
| 12 | g.49089862G>A | CA479715673 | DHH | c.1188C>T (p.Gly396=) c.1047C>T (p.Gly349=) c.846C>T (p.Gly282=) | gnomAD v4 |
| 12 | g.49089862G>C | CA479715675 | DHH | c.1188C>G (p.Gly396=) c.1047C>G (p.Gly349=) c.846C>G (p.Gly282=) | |
| 12 | g.49089862G>T | CA479715677 | DHH | c.1188C>A (p.Gly396=) c.1047C>A (p.Gly349=) c.846C>A (p.Gly282=) | gnomAD v4 |
| 12 | g.49089863C>A | CA384713394 | DHH | c.1187G>T (p.Gly396Val) c.1046G>T (p.Gly349Val) c.845G>T (p.Gly282Val) | gnomAD v4 |
| 12 | g.49089863C>G | CA384713400 | DHH | c.1187G>C (p.Gly396Ala) c.1046G>C (p.Gly349Ala) c.845G>C (p.Gly282Ala) | gnomAD v4 |
| 12 | g.49089863C>T | CA384713396 | DHH | c.1187G>A (p.Gly396Asp) c.1046G>A (p.Gly349Asp) c.845G>A (p.Gly282Asp) | gnomAD v4 |
| 12 | g.49089864C>A | CA6549067 | DHH | c.1186G>T (p.Gly396Cys) c.1045G>T (p.Gly349Cys) c.844G>T (p.Gly282Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089864C= | CA2034981887 | DHH | c.1186G= (p.Gly396=) c.1045G= (p.Gly349=) c.844G= (p.Gly282=) | |
| 12 | g.49089864C>G | CA384713417 | DHH | c.1186G>C (p.Gly396Arg) c.1045G>C (p.Gly349Arg) c.844G>C (p.Gly282Arg) | |
| 12 | g.49089864C>T | CA384713414 | DHH | c.1186G>A (p.Gly396Ser) c.1045G>A (p.Gly349Ser) c.844G>A (p.Gly282Ser) | |
| 12 | g.49089865C>A | CA6549068 | DHH | c.1185G>T (p.Leu395=) c.1044G>T (p.Leu348=) c.843G>T (p.Leu281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089865C= | CA2034981888 | DHH | c.1185G= (p.Leu395=) c.1044G= (p.Leu348=) c.843G= (p.Leu281=) | |
| 12 | g.49089865C>G | CA479715681 | DHH | c.1185G>C (p.Leu395=) c.1044G>C (p.Leu348=) c.843G>C (p.Leu281=) | |
| 12 | g.49089865C>T | CA479715682 | DHH | c.1185G>A (p.Leu395=) c.1044G>A (p.Leu348=) c.843G>A (p.Leu281=) | |
| 12 | g.49089866A= | CA2034981889 | DHH | c.1184T= (p.Leu395=) c.1043T= (p.Leu348=) c.842T= (p.Leu281=) | |
| 12 | g.49089866A>C | CA384713432 | DHH | c.1184T>G (p.Leu395Arg) c.1043T>G (p.Leu348Arg) c.842T>G (p.Leu281Arg) | |
| 12 | g.49089866A>G | CA384713433 | DHH | c.1184T>C (p.Leu395Pro) c.1043T>C (p.Leu348Pro) c.842T>C (p.Leu281Pro) | dbSNP |
| 12 | g.49089866A>T | CA384713440 | DHH | c.1184T>A (p.Leu395Gln) c.1043T>A (p.Leu348Gln) c.842T>A (p.Leu281Gln) | |
| 12 | g.49089867G>A | CA479715684 | DHH | c.1183C>T (p.Leu395=) c.1042C>T (p.Leu348=) c.841C>T (p.Leu281=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089867G>C | CA384713444 | DHH | c.1183C>G (p.Leu395Val) c.1042C>G (p.Leu348Val) c.841C>G (p.Leu281Val) | |
| 12 | g.49089867G= | CA2034981890 | DHH | c.1183C= (p.Leu395=) c.1042C= (p.Leu348=) c.841C= (p.Leu281=) | |
| 12 | g.49089867G>T | CA384713446 | DHH | c.1183C>A (p.Leu395Met) c.1042C>A (p.Leu348Met) c.841C>A (p.Leu281Met) | gnomAD v4 |
| 12 | g.49089868T>A | CA479715689 | DHH | c.1182A>T (p.Leu394=) c.1041A>T (p.Leu347=) c.840A>T (p.Leu280=) | |
| 12 | g.49089868T>C | CA6549069 | DHH | c.1182A>G (p.Leu394=) c.1041A>G (p.Leu347=) c.840A>G (p.Leu280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089868T>G | CA479715688 | DHH | c.1182A>C (p.Leu394=) c.1041A>C (p.Leu347=) c.840A>C (p.Leu280=) | |
| 12 | g.49089868T= | CA2034981891 | DHH | c.1182A= (p.Leu394=) c.1041A= (p.Leu347=) c.840A= (p.Leu280=) | |
| 12 | g.49089869A>C | CA384713448 | DHH | c.1181T>G (p.Leu394Arg) c.1040T>G (p.Leu347Arg) c.839T>G (p.Leu280Arg) | |
| 12 | g.49089869A>G | CA384713451 | DHH | c.1181T>C (p.Leu394Pro) c.1040T>C (p.Leu347Pro) c.839T>C (p.Leu280Pro) | gnomAD v4 |
| 12 | g.49089869A>T | CA384713454 | DHH | c.1181T>A (p.Leu394Gln) c.1040T>A (p.Leu347Gln) c.839T>A (p.Leu280Gln) | |
| 12 | g.49089870G>A | CA6549071 | DHH | c.1180C>T (p.Leu394=) c.1039C>T (p.Leu347=) c.838C>T (p.Leu280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089870G>C | CA6549070 | DHH | c.1180C>G (p.Leu394Val) c.1039C>G (p.Leu347Val) c.838C>G (p.Leu280Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089870G= | CA2034981892 | DHH | c.1180C= (p.Leu394=) c.1039C= (p.Leu347=) c.838C= (p.Leu280=) | |
| 12 | g.49089870G>T | CA384713459 | DHH | c.1180C>A (p.Leu394Ile) c.1039C>A (p.Leu347Ile) c.838C>A (p.Leu280Ile) | gnomAD v4 |
| 12 | g.49089871C>A | CA384713472 | DHH | c.1179G>T (p.Glu393Asp) c.1038G>T (p.Glu346Asp) c.837G>T (p.Glu279Asp) | gnomAD v4 |
| 12 | g.49089871C>G | CA384713473 | DHH | c.1179G>C (p.Glu393Asp) c.1038G>C (p.Glu346Asp) c.837G>C (p.Glu279Asp) | |
| 12 | g.49089871C>T | CA479715693 | DHH | c.1179G>A (p.Glu393=) c.1038G>A (p.Glu346=) c.837G>A (p.Glu279=) | gnomAD v4 |
| 12 | g.49089872T>A | CA384713477 | DHH | c.1178A>T (p.Glu393Val) c.1037A>T (p.Glu346Val) c.836A>T (p.Glu279Val) | |
| 12 | g.49089872T>C | CA384713478 | DHH | c.1178A>G (p.Glu393Gly) c.1037A>G (p.Glu346Gly) c.836A>G (p.Glu279Gly) | |
| 12 | g.49089872T>G | CA384713479 | DHH | c.1178A>C (p.Glu393Ala) c.1037A>C (p.Glu346Ala) c.836A>C (p.Glu279Ala) | |
| 12 | g.49089873C>A | CA384713484 | DHH | c.1177G>T (p.Glu393Ter) c.1036G>T (p.Glu346Ter) c.835G>T (p.Glu279Ter) | |
| 12 | g.49089873C= | CA2034981893 | DHH | c.1177G= (p.Glu393=) c.1036G= (p.Glu346=) c.835G= (p.Glu279=) | |
| 12 | g.49089873C>G | CA384713486 | DHH | c.1177G>C (p.Glu393Gln) c.1036G>C (p.Glu346Gln) c.835G>C (p.Glu279Gln) | |
| 12 | g.49089873C>T | CA384713492 | DHH | c.1177G>A (p.Glu393Lys) c.1036G>A (p.Glu346Lys) c.835G>A (p.Glu279Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089874C>A | CA384713498 | DHH | c.1176G>T (p.Glu392Asp) c.1035G>T (p.Glu345Asp) c.834G>T (p.Glu278Asp) | gnomAD v4 |
| 12 | g.49089874C= | CA2034981894 | DHH | c.1176G= (p.Glu392=) c.1035G= (p.Glu345=) c.834G= (p.Glu278=) | |
| 12 | g.49089874C>G | CA384713499 | DHH | c.1176G>C (p.Glu392Asp) c.1035G>C (p.Glu345Asp) c.834G>C (p.Glu278Asp) | |
| 12 | g.49089874C>T | CA479715699 | DHH | c.1176G>A (p.Glu392=) c.1035G>A (p.Glu345=) c.834G>A (p.Glu278=) | dbSNP gnomAD v4 |
| 12 | g.49089875T>A | CA384713500 | DHH | c.1175A>T (p.Glu392Val) c.1034A>T (p.Glu345Val) c.833A>T (p.Glu278Val) | gnomAD v4 |
| 12 | g.49089875T>C | CA384713501 | DHH | c.1175A>G (p.Glu392Gly) c.1034A>G (p.Glu345Gly) c.833A>G (p.Glu278Gly) | |
| 12 | g.49089875T>G | CA384713503 | DHH | c.1175A>C (p.Glu392Ala) c.1034A>C (p.Glu345Ala) c.833A>C (p.Glu278Ala) | |
| 12 | g.49089876C>A | CA384713515 | DHH | c.1174G>T (p.Glu392Ter) c.1033G>T (p.Glu345Ter) c.832G>T (p.Glu278Ter) | |
| 12 | g.49089876C>G | CA384713511 | DHH | c.1174G>C (p.Glu392Gln) c.1033G>C (p.Glu345Gln) c.832G>C (p.Glu278Gln) | |
| 12 | g.49089876C>T | CA384713507 | DHH | c.1174G>A (p.Glu392Lys) c.1033G>A (p.Glu345Lys) c.832G>A (p.Glu278Lys) | |
| 12 | g.49089877C>A | CA479715700 | DHH | c.1173G>T (p.Ala391=) c.1032G>T (p.Ala344=) c.831G>T (p.Ala277=) | gnomAD v4 |
| 12 | g.49089877C= | CA2034981895 | DHH | c.1173G= (p.Ala391=) c.1032G= (p.Ala344=) c.831G= (p.Ala277=) | |
| 12 | g.49089877C>G | CA6549072 | DHH | c.1173G>C (p.Ala391=) c.1032G>C (p.Ala344=) c.831G>C (p.Ala277=) | dbSNP ExAC gnomAD v2 |
| 12 | g.49089877C>T | CA479715703 | DHH | c.1173G>A (p.Ala391=) c.1032G>A (p.Ala344=) c.831G>A (p.Ala277=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49089878G>A | CA384713522 | DHH | c.1172C>T (p.Ala391Val) c.1031C>T (p.Ala344Val) c.830C>T (p.Ala277Val) | dbSNP gnomAD v4 |
| 12 | g.49089878G>C | CA384713531 | DHH | c.1172C>G (p.Ala391Gly) c.1031C>G (p.Ala344Gly) c.830C>G (p.Ala277Gly) | |
| 12 | g.49089878G= | CA2034981896 | DHH | c.1172C= (p.Ala391=) c.1031C= (p.Ala344=) c.830C= (p.Ala277=) | |
| 12 | g.49089878G>T | CA384713534 | DHH | c.1172C>A (p.Ala391Glu) c.1031C>A (p.Ala344Glu) c.830C>A (p.Ala277Glu) | gnomAD v4 |
| 12 | g.49089879C>A | CA384713541 | DHH | c.1171G>T (p.Ala391Ser) c.1030G>T (p.Ala344Ser) c.829G>T (p.Ala277Ser) | gnomAD v4 |
| 12 | g.49089879C>G | CA384713546 | DHH | c.1171G>C (p.Ala391Pro) c.1030G>C (p.Ala344Pro) c.829G>C (p.Ala277Pro) | gnomAD v4 |
| 12 | g.49089879C>T | CA384713547 | DHH | c.1171G>A (p.Ala391Thr) c.1030G>A (p.Ala344Thr) c.829G>A (p.Ala277Thr) | gnomAD v4 |
| 12 | g.49089880T>A | CA384713548 | DHH | c.1170A>T (p.Leu390Phe) c.1029A>T (p.Leu343Phe) c.828A>T (p.Leu276Phe) | |
| 12 | g.49089880T>C | CA479715705 | DHH | c.1170A>G (p.Leu390=) c.1029A>G (p.Leu343=) c.828A>G (p.Leu276=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089880T>G | CA384713550 | DHH | c.1170A>C (p.Leu390Phe) c.1029A>C (p.Leu343Phe) c.828A>C (p.Leu276Phe) | |
| 12 | g.49089880T= | CA2034981897 | DHH | c.1170A= (p.Leu390=) c.1029A= (p.Leu343=) c.828A= (p.Leu276=) | |
| 12 | g.49089881A>C | CA384713553 | DHH | c.1169T>G (p.Leu390Ter) c.1028T>G (p.Leu343Ter) c.827T>G (p.Leu276Ter) | |
| 12 | g.49089881A>G | CA384713555 | DHH | c.1169T>C (p.Leu390Ser) c.1028T>C (p.Leu343Ser) c.827T>C (p.Leu276Ser) | gnomAD v4 |
| 12 | g.49089881A>T | CA384713557 | DHH | c.1169T>A (p.Leu390Ter) c.1028T>A (p.Leu343Ter) c.827T>A (p.Leu276Ter) | |
| 12 | g.49089882del | CA2618613716 | DHH | c.1169del (p.Leu390Ter) c.1028del (p.Leu343Ter) c.827del (p.Leu276Ter) | gnomAD v4 |
| 12 | g.49089882A>C | CA384713560 | DHH | c.1168T>G (p.Leu390Val) c.1027T>G (p.Leu343Val) c.826T>G (p.Leu276Val) | |
| 12 | g.49089882A>G | CA479715706 | DHH | c.1168T>C (p.Leu390=) c.1027T>C (p.Leu343=) c.826T>C (p.Leu276=) | gnomAD v4 |
| 12 | g.49089882A>T | CA384713562 | DHH | c.1168T>A (p.Leu390Ile) c.1027T>A (p.Leu343Ile) c.826T>A (p.Leu276Ile) | gnomAD v4 |
| 12 | g.49089883G>A | CA479715707 | DHH | c.1167C>T (p.Arg389=) c.1026C>T (p.Arg342=) c.825C>T (p.Arg275=) | gnomAD v4 |
| 12 | g.49089883G>C | CA479715708 | DHH | c.1167C>G (p.Arg389=) c.1026C>G (p.Arg342=) c.825C>G (p.Arg275=) | |
| 12 | g.49089883G>T | CA479715709 | DHH | c.1167C>A (p.Arg389=) c.1026C>A (p.Arg342=) c.825C>A (p.Arg275=) | gnomAD v4 |
| 12 | g.49089884C>A | CA384713565 | DHH | c.1166G>T (p.Arg389Leu) c.1025G>T (p.Arg342Leu) c.824G>T (p.Arg275Leu) | gnomAD v4 |
| 12 | g.49089884C>G | CA384713575 | DHH | c.1166G>C (p.Arg389Pro) c.1025G>C (p.Arg342Pro) c.824G>C (p.Arg275Pro) | |
| 12 | g.49089884C>T | CA384713569 | DHH | c.1166G>A (p.Arg389His) c.1025G>A (p.Arg342His) c.824G>A (p.Arg275His) | gnomAD v4 |
| 12 | g.49089885G>A | CA384713591 | DHH | c.1165C>T (p.Arg389Cys) c.1024C>T (p.Arg342Cys) c.823C>T (p.Arg275Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089885G>C | CA384713610 | DHH | c.1165C>G (p.Arg389Gly) c.1024C>G (p.Arg342Gly) c.823C>G (p.Arg275Gly) | |
| 12 | g.49089885G= | CA2034981898 | DHH | c.1165C= (p.Arg389=) c.1024C= (p.Arg342=) c.823C= (p.Arg275=) | |
| 12 | g.49089885G>T | CA384713615 | DHH | c.1165C>A (p.Arg389Ser) c.1024C>A (p.Arg342Ser) c.823C>A (p.Arg275Ser) | gnomAD v4 |
| 12 | g.49089886G>A | CA479715710 | DHH | c.1164C>T (p.Tyr388=) c.1023C>T (p.Tyr341=) c.822C>T (p.Tyr274=) | gnomAD v4 |
| 12 | g.49089886G>C | CA384713621 | DHH | c.1164C>G (p.Tyr388Ter) c.1023C>G (p.Tyr341Ter) c.822C>G (p.Tyr274Ter) | |
| 12 | g.49089886G= | CA2034981899 | DHH | c.1164C= (p.Tyr388=) c.1023C= (p.Tyr341=) c.822C= (p.Tyr274=) | |
| 12 | g.49089886G>T | CA6549073 | DHH | c.1164C>A (p.Tyr388Ter) c.1023C>A (p.Tyr341Ter) c.822C>A (p.Tyr274Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089887T>A | CA384713626 | DHH | c.1163A>T (p.Tyr388Phe) c.1022A>T (p.Tyr341Phe) c.821A>T (p.Tyr274Phe) | |
| 12 | g.49089887T>C | CA384713627 | DHH | c.1163A>G (p.Tyr388Cys) c.1022A>G (p.Tyr341Cys) c.821A>G (p.Tyr274Cys) | |
| 12 | g.49089887T>G | CA384713628 | DHH | c.1163A>C (p.Tyr388Ser) c.1022A>C (p.Tyr341Ser) c.821A>C (p.Tyr274Ser) | |
| 12 | g.49089888A>C | CA384713629 | DHH | c.1162T>G (p.Tyr388Asp) c.1021T>G (p.Tyr341Asp) c.820T>G (p.Tyr274Asp) | |
| 12 | g.49089888A>G | CA384713632 | DHH | c.1162T>C (p.Tyr388His) c.1021T>C (p.Tyr341His) c.820T>C (p.Tyr274His) | gnomAD v4 |
| 12 | g.49089888A>T | CA384713635 | DHH | c.1162T>A (p.Tyr388Asn) c.1021T>A (p.Tyr341Asn) c.820T>A (p.Tyr274Asn) | |
| 12 | g.49089889G>A | CA479715713 | DHH | c.1161C>T (p.Leu387=) c.1020C>T (p.Leu340=) c.819C>T (p.Leu273=) | dbSNP |
| 12 | g.49089889G>C | CA479715712 | DHH | c.1161C>G (p.Leu387=) c.1020C>G (p.Leu340=) c.819C>G (p.Leu273=) | |
| 12 | g.49089889G= | CA2034981900 | DHH | c.1161C= (p.Leu387=) c.1020C= (p.Leu340=) c.819C= (p.Leu273=) | |
| 12 | g.49089889G>T | CA479715711 | DHH | c.1161C>A (p.Leu387=) c.1020C>A (p.Leu340=) c.819C>A (p.Leu273=) | gnomAD v4 |
| 12 | g.49089890A>C | CA384713638 | DHH | c.1160T>G (p.Leu387Arg) c.1019T>G (p.Leu340Arg) c.818T>G (p.Leu273Arg) | |
| 12 | g.49089890A>G | CA384713645 | DHH | c.1160T>C (p.Leu387Pro) c.1019T>C (p.Leu340Pro) c.818T>C (p.Leu273Pro) | |
| 12 | g.49089890A>T | CA384713641 | DHH | c.1160T>A (p.Leu387His) c.1019T>A (p.Leu340His) c.818T>A (p.Leu273His) | |
| 12 | g.49089891G>A | CA384713646 | DHH | c.1159C>T (p.Leu387Phe) c.1018C>T (p.Leu340Phe) c.817C>T (p.Leu273Phe) | dbSNP gnomAD v4 |
| 12 | g.49089891G>C | CA384713647 | DHH | c.1159C>G (p.Leu387Val) c.1018C>G (p.Leu340Val) c.817C>G (p.Leu273Val) | |
| 12 | g.49089891G= | CA2034981901 | DHH | c.1159C= (p.Leu387=) c.1018C= (p.Leu340=) c.817C= (p.Leu273=) | |
| 12 | g.49089891G>T | CA384713648 | DHH | c.1159C>A (p.Leu387Ile) c.1018C>A (p.Leu340Ile) c.817C>A (p.Leu273Ile) | gnomAD v4 |
| 12 | g.49089892G>A | CA479715714 | DHH | c.1158C>T (p.Leu386=) c.1017C>T (p.Leu339=) c.816C>T (p.Leu272=) | |
| 12 | g.49089892G>C | CA479715715 | DHH | c.1158C>G (p.Leu386=) c.1017C>G (p.Leu339=) c.816C>G (p.Leu272=) | |
| 12 | g.49089892G>T | CA479715717 | DHH | c.1158C>A (p.Leu386=) c.1017C>A (p.Leu339=) c.816C>A (p.Leu272=) | gnomAD v4 |
| 12 | g.49089893A>C | CA384713652 | DHH | c.1157T>G (p.Leu386Arg) c.1016T>G (p.Leu339Arg) c.815T>G (p.Leu272Arg) | |
| 12 | g.49089893A>G | CA384713657 | DHH | c.1157T>C (p.Leu386Pro) c.1016T>C (p.Leu339Pro) c.815T>C (p.Leu272Pro) | gnomAD v4 |
| 12 | g.49089893A>T | CA384713660 | DHH | c.1157T>A (p.Leu386His) c.1016T>A (p.Leu339His) c.815T>A (p.Leu272His) | |
| 12 | g.49089894G>A | CA6549074 | DHH | c.1156C>T (p.Leu386Phe) c.1015C>T (p.Leu339Phe) c.814C>T (p.Leu272Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089894G>C | CA384713670 | DHH | c.1156C>G (p.Leu386Val) c.1015C>G (p.Leu339Val) c.814C>G (p.Leu272Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089894G= | CA2034981902 | DHH | c.1156C= (p.Leu386=) c.1015C= (p.Leu339=) c.814C= (p.Leu272=) | |
| 12 | g.49089894G>T | CA384713674 | DHH | c.1156C>A (p.Leu386Ile) c.1015C>A (p.Leu339Ile) c.814C>A (p.Leu272Ile) | gnomAD v4 |
| 12 | g.49089895C>A | CA479715718 | DHH | c.1155G>T (p.Arg385=) c.1014G>T (p.Arg338=) c.813G>T (p.Arg271=) | gnomAD v4 |
| 12 | g.49089895C>G | CA479715720 | DHH | c.1155G>C (p.Arg385=) c.1014G>C (p.Arg338=) c.813G>C (p.Arg271=) | |
| 12 | g.49089895C>T | CA479715719 | DHH | c.1155G>A (p.Arg385=) c.1014G>A (p.Arg338=) c.813G>A (p.Arg271=) | gnomAD v4 |
| 12 | g.49089896dup | CA2695216807 | DHH | c.1155dup (p.Leu386AlafsTer?) c.1014dup (p.Leu339AlafsTer?) c.813dup (p.Leu272AlafsTer?) | |
| 12 | g.49089896C>A | CA384713679 | DHH | c.1154G>T (p.Arg385Leu) c.1013G>T (p.Arg338Leu) c.812G>T (p.Arg271Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089896C= | CA2034981903 | DHH | c.1154G= (p.Arg385=) c.1013G= (p.Arg338=) c.812G= (p.Arg271=) | |
| 12 | g.49089896C>G | CA384713682 | DHH | c.1154G>C (p.Arg385Pro) c.1013G>C (p.Arg338Pro) c.812G>C (p.Arg271Pro) | |
| 12 | g.49089896C>T | CA384713689 | DHH | c.1154G>A (p.Arg385Gln) c.1013G>A (p.Arg338Gln) c.812G>A (p.Arg271Gln) | |
| 12 | g.49089897G>A | CA384713692 | DHH | c.1153C>T (p.Arg385Trp) c.1012C>T (p.Arg338Trp) c.811C>T (p.Arg271Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089897G>C | CA384713693 | DHH | c.1153C>G (p.Arg385Gly) c.1012C>G (p.Arg338Gly) c.811C>G (p.Arg271Gly) | |
| 12 | g.49089897G= | CA2034981904 | DHH | c.1153C= (p.Arg385=) c.1012C= (p.Arg338=) c.811C= (p.Arg271=) | |
| 12 | g.49089897G>T | CA479715724 | DHH | c.1153C>A (p.Arg385=) c.1012C>A (p.Arg338=) c.811C>A (p.Arg271=) | gnomAD v4 |
| 12 | g.49089898A>C | CA479715725 | DHH | c.1152T>G (p.Ser384=) c.1011T>G (p.Ser337=) c.810T>G (p.Ser270=) | |
| 12 | g.49089898A>G | CA479715727 | DHH | c.1152T>C (p.Ser384=) c.1011T>C (p.Ser337=) c.810T>C (p.Ser270=) | gnomAD v4 |
| 12 | g.49089898A>T | CA479715730 | DHH | c.1152T>A (p.Ser384=) c.1011T>A (p.Ser337=) c.810T>A (p.Ser270=) | |
| 12 | g.49089899G>A | CA384713710 | DHH | c.1151C>T (p.Ser384Phe) c.1010C>T (p.Ser337Phe) c.809C>T (p.Ser270Phe) | gnomAD v4 |
| 12 | g.49089899G>C | CA384713697 | DHH | c.1151C>G (p.Ser384Cys) c.1010C>G (p.Ser337Cys) c.809C>G (p.Ser270Cys) | |
| 12 | g.49089899G>T | CA384713695 | DHH | c.1151C>A (p.Ser384Tyr) c.1010C>A (p.Ser337Tyr) c.809C>A (p.Ser270Tyr) | gnomAD v4 |
| 12 | g.49089900A>C | CA384713720 | DHH | c.1150T>G (p.Ser384Ala) c.1009T>G (p.Ser337Ala) c.808T>G (p.Ser270Ala) | |
| 12 | g.49089900A>G | CA384713723 | DHH | c.1150T>C (p.Ser384Pro) c.1009T>C (p.Ser337Pro) c.808T>C (p.Ser270Pro) | |
| 12 | g.49089900A>T | CA384713724 | DHH | c.1150T>A (p.Ser384Thr) c.1009T>A (p.Ser337Thr) c.808T>A (p.Ser270Thr) | |
| 12 | g.49089901G>A | CA479715735 | DHH | c.1149C>T (p.Tyr383=) c.1008C>T (p.Tyr336=) c.807C>T (p.Tyr269=) | gnomAD v4 |
| 12 | g.49089901G>C | CA384713730 | DHH | c.1149C>G (p.Tyr383Ter) c.1008C>G (p.Tyr336Ter) c.807C>G (p.Tyr269Ter) | |
| 12 | g.49089901G>T | CA384713733 | DHH | c.1149C>A (p.Tyr383Ter) c.1008C>A (p.Tyr336Ter) c.807C>A (p.Tyr269Ter) | gnomAD v4 |
| 12 | g.49089902T>A | CA384713738 | DHH | c.1148A>T (p.Tyr383Phe) c.1007A>T (p.Tyr336Phe) c.806A>T (p.Tyr269Phe) | |
| 12 | g.49089902T>C | CA384713739 | DHH | c.1148A>G (p.Tyr383Cys) c.1007A>G (p.Tyr336Cys) c.806A>G (p.Tyr269Cys) | |
| 12 | g.49089902T>G | CA384713740 | DHH | c.1148A>C (p.Tyr383Ser) c.1007A>C (p.Tyr336Ser) c.806A>C (p.Tyr269Ser) | |
| 12 | g.49089903A>C | CA384713743 | DHH | c.1147T>G (p.Tyr383Asp) c.1006T>G (p.Tyr336Asp) c.805T>G (p.Tyr269Asp) | |
| 12 | g.49089903A>G | CA384713746 | DHH | c.1147T>C (p.Tyr383His) c.1006T>C (p.Tyr336His) c.805T>C (p.Tyr269His) | |
| 12 | g.49089903A>T | CA384713751 | DHH | c.1147T>A (p.Tyr383Asn) c.1006T>A (p.Tyr336Asn) c.805T>A (p.Tyr269Asn) | |
| 12 | g.49089904C>A | CA384713754 | DHH | c.1146G>T (p.Trp382Cys) c.1005G>T (p.Trp335Cys) c.804G>T (p.Trp268Cys) | gnomAD v4 |
| 12 | g.49089904C>G | CA384713759 | DHH | c.1146G>C (p.Trp382Cys) c.1005G>C (p.Trp335Cys) c.804G>C (p.Trp268Cys) | gnomAD v4 |
| 12 | g.49089904C>T | CA384713767 | DHH | c.1146G>A (p.Trp382Ter) c.1005G>A (p.Trp335Ter) c.804G>A (p.Trp268Ter) | gnomAD v4 |
| 12 | g.49089905C>A | CA384713774 | DHH | c.1145G>T (p.Trp382Leu) c.1004G>T (p.Trp335Leu) c.803G>T (p.Trp268Leu) | dbSNP gnomAD v4 |
| 12 | g.49089905C= | CA2034981905 | DHH | c.1145G= (p.Trp382=) c.1004G= (p.Trp335=) c.803G= (p.Trp268=) | |
| 12 | g.49089905C>G | CA384713776 | DHH | c.1145G>C (p.Trp382Ser) c.1004G>C (p.Trp335Ser) c.803G>C (p.Trp268Ser) | |
| 12 | g.49089905C>T | CA384713771 | DHH | c.1145G>A (p.Trp382Ter) c.1004G>A (p.Trp335Ter) c.803G>A (p.Trp268Ter) | gnomAD v4 |
| 12 | g.49089906A>C | CA384713780 | DHH | c.1144T>G (p.Trp382Gly) c.1003T>G (p.Trp335Gly) c.802T>G (p.Trp268Gly) | |
| 12 | g.49089906A>G | CA384713785 | DHH | c.1144T>C (p.Trp382Arg) c.1003T>C (p.Trp335Arg) c.802T>C (p.Trp268Arg) | |
| 12 | g.49089906A>T | CA384713788 | DHH | c.1144T>A (p.Trp382Arg) c.1003T>A (p.Trp335Arg) c.802T>A (p.Trp268Arg) | |
| 12 | g.49089907A= | CA2034981906 | DHH | c.1143T= (p.His381=) c.1002T= (p.His334=) c.801T= (p.His267=) | |
| 12 | g.49089907A>C | CA384713793 | DHH | c.1143T>G (p.His381Gln) c.1002T>G (p.His334Gln) c.801T>G (p.His267Gln) | |
| 12 | g.49089907A>G | CA6549075 | DHH | c.1143T>C (p.His381=) c.1002T>C (p.His334=) c.801T>C (p.His267=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49089907A>T | CA384713810 | DHH | c.1143T>A (p.His381Gln) c.1002T>A (p.His334Gln) c.801T>A (p.His267Gln) | |
| 12 | g.49089908T>A | CA384713819 | DHH | c.1142A>T (p.His381Leu) c.1001A>T (p.His334Leu) c.800A>T (p.His267Leu) | gnomAD v4 |
| 12 | g.49089908T>C | CA384713824 | DHH | c.1142A>G (p.His381Arg) c.1001A>G (p.His334Arg) c.800A>G (p.His267Arg) | |
| 12 | g.49089908T>G | CA384713825 | DHH | c.1142A>C (p.His381Pro) c.1001A>C (p.His334Pro) c.800A>C (p.His267Pro) | |
| 12 | g.49089909G>A | CA384713832 | DHH | c.1141C>T (p.His381Tyr) c.1000C>T (p.His334Tyr) c.799C>T (p.His267Tyr) | |
| 12 | g.49089909G>C | CA384713837 | DHH | c.1141C>G (p.His381Asp) c.1000C>G (p.His334Asp) c.799C>G (p.His267Asp) | |
| 12 | g.49089909G>T | CA384713838 | DHH | c.1141C>A (p.His381Asn) c.1000C>A (p.His334Asn) c.799C>A (p.His267Asn) | gnomAD v4 |
| 12 | g.49089910C>A | CA384713845 | DHH | c.1140G>T (p.Met380Ile) c.999G>T (p.Met333Ile) c.798G>T (p.Met266Ile) | gnomAD v4 |
| 12 | g.49089910C>G | CA384713849 | DHH | c.1140G>C (p.Met380Ile) c.999G>C (p.Met333Ile) c.798G>C (p.Met266Ile) | |
| 12 | g.49089910C>T | CA384713843 | DHH | c.1140G>A (p.Met380Ile) c.999G>A (p.Met333Ile) c.798G>A (p.Met266Ile) | |
| 12 | g.49089911A= | CA2034981907 | DHH | c.1139T= (p.Met380=) c.998T= (p.Met333=) c.797T= (p.Met266=) | |
| 12 | g.49089911A>C | CA384713854 | DHH | c.1139T>G (p.Met380Arg) c.998T>G (p.Met333Arg) c.797T>G (p.Met266Arg) | |
| 12 | g.49089911A>G | CA384713857 | DHH | c.1139T>C (p.Met380Thr) c.998T>C (p.Met333Thr) c.797T>C (p.Met266Thr) | dbSNP gnomAD v4 |
| 12 | g.49089911A>T | CA384713860 | DHH | c.1139T>A (p.Met380Lys) c.998T>A (p.Met333Lys) c.797T>A (p.Met266Lys) | |
| 12 | g.49089912T>A | CA384713865 | DHH | c.1138A>T (p.Met380Leu) c.997A>T (p.Met333Leu) c.796A>T (p.Met266Leu) | |
| 12 | g.49089912T>C | CA384713867 | DHH | c.1138A>G (p.Met380Val) c.997A>G (p.Met333Val) c.796A>G (p.Met266Val) | gnomAD v4 |
| 12 | g.49089912T>G | CA384713869 | DHH | c.1138A>C (p.Met380Leu) c.997A>C (p.Met333Leu) c.796A>C (p.Met266Leu) | |
| 12 | g.49089912dup | CA605234141 | DHH | c.1138dup (p.Met380AsnfsTer?) c.997dup (p.Met333AsnfsTer?) c.796dup (p.Met266AsnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089913G>A | CA479715744 | DHH | c.1137C>T (p.Gly379=) c.996C>T (p.Gly332=) c.795C>T (p.Gly265=) | dbSNP gnomAD v4 |
| 12 | g.49089913G>C | CA479715745 | DHH | c.1137C>G (p.Gly379=) c.996C>G (p.Gly332=) c.795C>G (p.Gly265=) | |
| 12 | g.49089913G= | CA2034981908 | DHH | c.1137C= (p.Gly379=) c.996C= (p.Gly332=) c.795C= (p.Gly265=) | |
| 12 | g.49089913G>T | CA479715746 | DHH | c.1137C>A (p.Gly379=) c.996C>A (p.Gly332=) c.795C>A (p.Gly265=) | gnomAD v4 |
| 12 | g.49089914C>A | CA384713871 | DHH | c.1136G>T (p.Gly379Val) c.995G>T (p.Gly332Val) c.794G>T (p.Gly265Val) | gnomAD v4 |
| 12 | g.49089914C>G | CA384713876 | DHH | c.1136G>C (p.Gly379Ala) c.995G>C (p.Gly332Ala) c.794G>C (p.Gly265Ala) | |
| 12 | g.49089914C>T | CA384713874 | DHH | c.1136G>A (p.Gly379Asp) c.995G>A (p.Gly332Asp) c.794G>A (p.Gly265Asp) | gnomAD v4 |
| 12 | g.49089915C>A | CA384713881 | DHH | c.1135G>T (p.Gly379Cys) c.994G>T (p.Gly332Cys) c.793G>T (p.Gly265Cys) | |
| 12 | g.49089915C>G | CA384713892 | DHH | c.1135G>C (p.Gly379Arg) c.994G>C (p.Gly332Arg) c.793G>C (p.Gly265Arg) | |
| 12 | g.49089915C>T | CA384713897 | DHH | c.1135G>A (p.Gly379Ser) c.994G>A (p.Gly332Ser) c.793G>A (p.Gly265Ser) | gnomAD v4 |
| 12 | g.49089916A= | CA2034981909 | DHH | c.1134T= (p.Thr378=) c.993T= (p.Thr331=) c.792T= (p.Thr264=) | |
| 12 | g.49089916A>C | CA479715748 | DHH | c.1134T>G (p.Thr378=) c.993T>G (p.Thr331=) c.792T>G (p.Thr264=) | dbSNP gnomAD v4 |
| 12 | g.49089916A>G | CA479715749 | DHH | c.1134T>C (p.Thr378=) c.993T>C (p.Thr331=) c.792T>C (p.Thr264=) | gnomAD v4 |
| 12 | g.49089916A>T | CA6549076 | DHH | c.1134T>A (p.Thr378=) c.993T>A (p.Thr331=) c.792T>A (p.Thr264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089917G>A | CA384713908 | DHH | c.1133C>T (p.Thr378Ile) c.992C>T (p.Thr331Ile) c.791C>T (p.Thr264Ile) | gnomAD v4 |
| 12 | g.49089917G>C | CA384713913 | DHH | c.1133C>G (p.Thr378Ser) c.992C>G (p.Thr331Ser) c.791C>G (p.Thr264Ser) | |
| 12 | g.49089917G>T | CA384713910 | DHH | c.1133C>A (p.Thr378Asn) c.992C>A (p.Thr331Asn) c.791C>A (p.Thr264Asn) | |
| 12 | g.49089918T>A | CA384713929 | DHH | c.1132A>T (p.Thr378Ser) c.991A>T (p.Thr331Ser) c.790A>T (p.Thr264Ser) | |
| 12 | g.49089918T>C | CA384713932 | DHH | c.1132A>G (p.Thr378Ala) c.991A>G (p.Thr331Ala) c.790A>G (p.Thr264Ala) | |
| 12 | g.49089918T>G | CA384713944 | DHH | c.1132A>C (p.Thr378Pro) c.991A>C (p.Thr331Pro) c.790A>C (p.Thr264Pro) | |
| 12 | g.49089919C>A | CA479715755 | DHH | c.1131G>T (p.Pro377=) c.990G>T (p.Pro330=) c.789G>T (p.Pro263=) | gnomAD v4 |
| 12 | g.49089919C= | CA2034981910 | DHH | c.1131G= (p.Pro377=) c.990G= (p.Pro330=) c.789G= (p.Pro263=) | |
| 12 | g.49089919C>G | CA479715754 | DHH | c.1131G>C (p.Pro377=) c.990G>C (p.Pro330=) c.789G>C (p.Pro263=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089919C>T | CA479715753 | DHH | c.1131G>A (p.Pro377=) c.990G>A (p.Pro330=) c.789G>A (p.Pro263=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49089920G>A | CA6549077 | DHH | c.1130C>T (p.Pro377Leu) c.989C>T (p.Pro330Leu) c.788C>T (p.Pro263Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49089920G>C | CA384713948 | DHH | c.1130C>G (p.Pro377Arg) c.989C>G (p.Pro330Arg) c.788C>G (p.Pro263Arg) | gnomAD v4 |
| 12 | g.49089920G= | CA2034981911 | DHH | c.1130C= (p.Pro377=) c.989C= (p.Pro330=) c.788C= (p.Pro263=) | |
| 12 | g.49089920G>T | CA384713964 | DHH | c.1130C>A (p.Pro377Gln) c.989C>A (p.Pro330Gln) c.788C>A (p.Pro263Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49089921G>A | CA384713982 | DHH | c.1129C>T (p.Pro377Ser) c.988C>T (p.Pro330Ser) c.787C>T (p.Pro263Ser) | gnomAD v4 |
| 12 | g.49089921G>C | CA384713971 | DHH | c.1129C>G (p.Pro377Ala) c.988C>G (p.Pro330Ala) c.787C>G (p.Pro263Ala) | |
| 12 | g.49089921G>T | CA384713972 | DHH | c.1129C>A (p.Pro377Thr) c.988C>A (p.Pro330Thr) c.787C>A (p.Pro263Thr) | ClinVar |
| 12 | g.49089922C>A | CA384713985 | DHH | c.1128G>T (p.Gln376His) c.987G>T (p.Gln329His) c.786G>T (p.Gln262His) | gnomAD v4 |
| 12 | g.49089922C>G | CA384713986 | DHH | c.1128G>C (p.Gln376His) c.987G>C (p.Gln329His) c.786G>C (p.Gln262His) | |
| 12 | g.49089922C>T | CA479715759 | DHH | c.1128G>A (p.Gln376=) c.987G>A (p.Gln329=) c.786G>A (p.Gln262=) | gnomAD v4 |
| 12 | g.49089923T>A | CA384713990 | DHH | c.1127A>T (p.Gln376Leu) c.986A>T (p.Gln329Leu) c.785A>T (p.Gln262Leu) | |
| 12 | g.49089923T>C | CA384713994 | DHH | c.1127A>G (p.Gln376Arg) c.986A>G (p.Gln329Arg) c.785A>G (p.Gln262Arg) | gnomAD v4 |
| 12 | g.49089923T>G | CA384713996 | DHH | c.1127A>C (p.Gln376Pro) c.986A>C (p.Gln329Pro) c.785A>C (p.Gln262Pro) | |
| 12 | g.49089924G>A | CA384714004 | DHH | c.1126C>T (p.Gln376Ter) c.985C>T (p.Gln329Ter) c.784C>T (p.Gln262Ter) | gnomAD v4 |
| 12 | g.49089924G>C | CA384713999 | DHH | c.1126C>G (p.Gln376Glu) c.985C>G (p.Gln329Glu) c.784C>G (p.Gln262Glu) | gnomAD v4 |
| 12 | g.49089924G>T | CA384714001 | DHH | c.1126C>A (p.Gln376Lys) c.985C>A (p.Gln329Lys) c.784C>A (p.Gln262Lys) | gnomAD v4 |
| 12 | g.49089925G>A | CA479715761 | DHH | c.1125C>T (p.Val375=) c.984C>T (p.Val328=) c.783C>T (p.Val261=) | |
| 12 | g.49089925G>C | CA479715762 | DHH | c.1125C>G (p.Val375=) c.984C>G (p.Val328=) c.783C>G (p.Val261=) | dbSNP |
| 12 | g.49089925G= | CA2034981912 | DHH | c.1125C= (p.Val375=) c.984C= (p.Val328=) c.783C= (p.Val261=) | |
| 12 | g.49089925G>T | CA479715763 | DHH | c.1125C>A (p.Val375=) c.984C>A (p.Val328=) c.783C>A (p.Val261=) |