| 20 | g.44118514A= | CA2365626446 | JPH2 | c.1279T= (p.Tyr427=)
| |
| 20 | g.44118514A>C | CA409101673 | JPH2 | c.1279T>G (p.Tyr427Asp)
| |
| 20 | g.44118514A>G | CA409101674 | JPH2 | c.1279T>C (p.Tyr427His)
| |
| 20 | g.44118514A>T | CA409101675 | JPH2 | c.1279T>A (p.Tyr427Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118515G>A | CA510571358 | JPH2 | c.1278C>T (p.Phe426=)
| |
| 20 | g.44118515G>C | CA409101676 | JPH2 | c.1278C>G (p.Phe426Leu)
| |
| 20 | g.44118515G>T | CA409101677 | JPH2 | c.1278C>A (p.Phe426Leu)
| COSMIC |
| 20 | g.44118516A>C | CA409101678 | JPH2 | c.1277T>G (p.Phe426Cys)
| |
| 20 | g.44118516A>G | CA409101679 | JPH2 | c.1277T>C (p.Phe426Ser)
| gnomAD v4 |
| 20 | g.44118516A>T | CA409101680 | JPH2 | c.1277T>A (p.Phe426Tyr)
| |
| 20 | g.44118517A>C | CA409101681 | JPH2 | c.1276T>G (p.Phe426Val)
| |
| 20 | g.44118517A>G | CA409101683 | JPH2 | c.1276T>C (p.Phe426Leu)
| |
| 20 | g.44118517A>T | CA409101682 | JPH2 | c.1276T>A (p.Phe426Ile)
| |
| 20 | g.44118518G>A | CA510571359 | JPH2 | c.1275C>T (p.Asp425=)
| |
| 20 | g.44118518G>C | CA409101684 | JPH2 | c.1275C>G (p.Asp425Glu)
| |
| 20 | g.44118518G>T | CA409101685 | JPH2 | c.1275C>A (p.Asp425Glu)
| ClinVar dbSNP |
| 20 | g.44118519T>A | CA409101686 | JPH2 | c.1274A>T (p.Asp425Val)
| |
| 20 | g.44118519T>C | CA409101687 | JPH2 | c.1274A>G (p.Asp425Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118519T>G | CA409101688 | JPH2 | c.1274A>C (p.Asp425Ala)
| |
| 20 | g.44118519T= | CA2365626447 | JPH2 | c.1274A= (p.Asp425=)
| |
| 20 | g.44118520C>A | CA409101689 | JPH2 | c.1273G>T (p.Asp425Tyr)
| |
| 20 | g.44118520C= | CA2365626448 | JPH2 | c.1273G= (p.Asp425=)
| |
| 20 | g.44118520C>G | CA409101690 | JPH2 | c.1273G>C (p.Asp425His)
| |
| 20 | g.44118520C>T | CA409101691 | JPH2 | c.1273G>A (p.Asp425Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118521C>A | CA510571360 | JPH2 | c.1272G>T (p.Pro424=)
| |
| 20 | g.44118521C= | CA2365626449 | JPH2 | c.1272G= (p.Pro424=)
| |
| 20 | g.44118521C>G | CA510571361 | JPH2 | c.1272G>C (p.Pro424=)
| |
| 20 | g.44118521C>T | CA9868689 | JPH2 | c.1272G>A (p.Pro424=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118522G>A | CA9868690 | JPH2 | c.1271C>T (p.Pro424Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118522G>C | CA409101693 | JPH2 | c.1271C>G (p.Pro424Arg)
| |
| 20 | g.44118522G= | CA2365626450 | JPH2 | c.1271C= (p.Pro424=)
| |
| 20 | g.44118522G>T | CA409101692 | JPH2 | c.1271C>A (p.Pro424Gln)
| |
| 20 | g.44118523G>A | CA409101694 | JPH2 | c.1270C>T (p.Pro424Ser)
| gnomAD v4 COSMIC |
| 20 | g.44118523G>C | CA409101695 | JPH2 | c.1270C>G (p.Pro424Ala)
| |
| 20 | g.44118523G>T | CA409101696 | JPH2 | c.1270C>A (p.Pro424Thr)
| |
| 20 | g.44118524A>C | CA510571362 | JPH2 | c.1269T>G (p.Ala423=)
| |
| 20 | g.44118524A>G | CA510571363 | JPH2 | c.1269T>C (p.Ala423=)
| |
| 20 | g.44118524A>T | CA510571364 | JPH2 | c.1269T>A (p.Ala423=)
| |
| 20 | g.44118525G>A | CA409101697 | JPH2 | c.1268C>T (p.Ala423Val)
| |
| 20 | g.44118525G>C | CA409101698 | JPH2 | c.1268C>G (p.Ala423Gly)
| |
| 20 | g.44118525G>T | CA409101699 | JPH2 | c.1268C>A (p.Ala423Asp)
| |
| 20 | g.44118526C>A | CA9868691 | JPH2 | c.1267G>T (p.Ala423Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118526C= | CA2365626451 | JPH2 | c.1267G= (p.Ala423=)
| |
| 20 | g.44118526C>G | CA409101700 | JPH2 | c.1267G>C (p.Ala423Pro)
| |
| 20 | g.44118526C>T | CA409101701 | JPH2 | c.1267G>A (p.Ala423Thr)
| gnomAD v4 |
| 20 | g.44118527C>A | CA510571365 | JPH2 | c.1266G>T (p.Leu422=)
| |
| 20 | g.44118527C>G | CA510571366 | JPH2 | c.1266G>C (p.Leu422=)
| |
| 20 | g.44118527C>T | CA510571367 | JPH2 | c.1266G>A (p.Leu422=)
| |
| 20 | g.44118528A>C | CA409101702 | JPH2 | c.1265T>G (p.Leu422Arg)
| gnomAD v4 |
| 20 | g.44118528A>G | CA409101703 | JPH2 | c.1265T>C (p.Leu422Pro)
| |
| 20 | g.44118528A>T | CA409101704 | JPH2 | c.1265T>A (p.Leu422Gln)
| |
| 20 | g.44118529G>A | CA510571368 | JPH2 | c.1264C>T (p.Leu422=)
| |
| 20 | g.44118529G>C | CA409101706 | JPH2 | c.1264C>G (p.Leu422Val)
| gnomAD v4 |
| 20 | g.44118529G>T | CA409101705 | JPH2 | c.1264C>A (p.Leu422Met)
| |
| 20 | g.44118530C>A | CA409101707 | JPH2 | c.1263G>T (p.Glu421Asp)
| ClinVar |
| 20 | g.44118530C>G | CA409101708 | JPH2 | c.1263G>C (p.Glu421Asp)
| |
| 20 | g.44118530C>T | CA510571369 | JPH2 | c.1263G>A (p.Glu421=)
| |
| 20 | g.44118531T>A | CA409101709 | JPH2 | c.1262A>T (p.Glu421Val)
| |
| 20 | g.44118531T>C | CA409101710 | JPH2 | c.1262A>G (p.Glu421Gly)
| |
| 20 | g.44118531T>G | CA409101711 | JPH2 | c.1262A>C (p.Glu421Ala)
| |
| 20 | g.44118532C>A | CA409101712 | JPH2 | c.1261G>T (p.Glu421Ter)
| |
| 20 | g.44118532C>G | CA409101713 | JPH2 | c.1261G>C (p.Glu421Gln)
| |
| 20 | g.44118532C>T | CA409101714 | JPH2 | c.1261G>A (p.Glu421Lys)
| |
| 20 | g.44118533C>A | CA409101715 | JPH2 | c.1260G>T (p.Arg420Ser)
| |
| 20 | g.44118533C= | CA2365626452 | JPH2 | c.1260G= (p.Arg420=)
| |
| 20 | g.44118533C>G | CA409101716 | JPH2 | c.1260G>C (p.Arg420Ser)
| |
| 20 | g.44118533C>T | CA510571370 | JPH2 | c.1260G>A (p.Arg420=)
| dbSNP |
| 20 | g.44118534C>A | CA409101717 | JPH2 | c.1259G>T (p.Arg420Met)
| |
| 20 | g.44118534C>G | CA409101718 | JPH2 | c.1259G>C (p.Arg420Thr)
| |
| 20 | g.44118534C>T | CA409101719 | JPH2 | c.1259G>A (p.Arg420Lys)
| |
| 20 | g.44118535T>A | CA409101721 | JPH2 | c.1258A>T (p.Arg420Trp)
| |
| 20 | g.44118535T>C | CA409101720 | JPH2 | c.1258A>G (p.Arg420Gly)
| |
| 20 | g.44118535T>G | CA510571371 | JPH2 | c.1258A>C (p.Arg420=)
| |
| 20 | g.44118536G>A | CA510571372 | JPH2 | c.1257C>T (p.Ala419=)
| |
| 20 | g.44118536G>C | CA510571373 | JPH2 | c.1257C>G (p.Ala419=)
| |
| 20 | g.44118536G>T | CA510571374 | JPH2 | c.1257C>A (p.Ala419=)
| |
| 20 | g.44118537G>A | CA409101722 | JPH2 | c.1256C>T (p.Ala419Val)
| gnomAD v4 |
| 20 | g.44118537G>C | CA409101724 | JPH2 | c.1256C>G (p.Ala419Gly)
| |
| 20 | g.44118537G>T | CA409101723 | JPH2 | c.1256C>A (p.Ala419Asp)
| COSMIC |
| 20 | g.44118538C>A | CA409101725 | JPH2 | c.1255G>T (p.Ala419Ser)
| |
| 20 | g.44118538C>G | CA409101726 | JPH2 | c.1255G>C (p.Ala419Pro)
| |
| 20 | g.44118538C>T | CA409101727 | JPH2 | c.1255G>A (p.Ala419Thr)
| |
| 20 | g.44118539C>A | CA409101728 | JPH2 | c.1254G>T (p.Leu418Phe)
| COSMIC |
| 20 | g.44118539C= | CA2365626453 | JPH2 | c.1254G= (p.Leu418=)
| |
| 20 | g.44118539C>G | CA409101729 | JPH2 | c.1254G>C (p.Leu418Phe)
| |
| 20 | g.44118539C>T | CA510571375 | JPH2 | c.1254G>A (p.Leu418=)
| dbSNP gnomAD v2 |
| 20 | g.44118540A>C | CA409101730 | JPH2 | c.1253T>G (p.Leu418Trp)
| |
| 20 | g.44118540A>G | CA409101731 | JPH2 | c.1253T>C (p.Leu418Ser)
| gnomAD v4 |
| 20 | g.44118540A>T | CA409101732 | JPH2 | c.1253T>A (p.Leu418Ter)
| |
| 20 | g.44118541A>C | CA409101733 | JPH2 | c.1252T>G (p.Leu418Val)
| |
| 20 | g.44118541A>G | CA510571376 | JPH2 | c.1252T>C (p.Leu418=)
| |
| 20 | g.44118541A>T | CA409101734 | JPH2 | c.1252T>A (p.Leu418Met)
| |
| 20 | g.44118542A= | CA2365626454 | JPH2 | c.1251T= (p.Thr417=)
| |
| 20 | g.44118542A>C | CA510571379 | JPH2 | c.1251T>G (p.Thr417=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118542A>G | CA510571378 | JPH2 | c.1251T>C (p.Thr417=)
| |
| 20 | g.44118542A>T | CA510571377 | JPH2 | c.1251T>A (p.Thr417=)
| |
| 20 | g.44118543G>A | CA409101737 | JPH2 | c.1250C>T (p.Thr417Ile)
| |
| 20 | g.44118543G>C | CA409101736 | JPH2 | c.1250C>G (p.Thr417Ser)
| |
| 20 | g.44118543G>T | CA409101735 | JPH2 | c.1250C>A (p.Thr417Asn)
| COSMIC |
| 20 | g.44118544T>A | CA409101738 | JPH2 | c.1249A>T (p.Thr417Ser)
| |
| 20 | g.44118544T>C | CA409101739 | JPH2 | c.1249A>G (p.Thr417Ala)
| ClinVar |
| 20 | g.44118544T>G | CA409101740 | JPH2 | c.1249A>C (p.Thr417Pro)
| |
| 20 | g.44118545G>A | CA510571380 | JPH2 | c.1248C>T (p.Arg416=)
| |
| 20 | g.44118545G>C | CA510571381 | JPH2 | c.1248C>G (p.Arg416=)
| gnomAD v4 |
| 20 | g.44118545G= | CA2365626455 | JPH2 | c.1248C= (p.Arg416=)
| |
| 20 | g.44118545G>T | CA510571382 | JPH2 | c.1248C>A (p.Arg416=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118546C>A | CA9868692 | JPH2 | c.1247G>T (p.Arg416Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118546C= | CA2365626456 | JPH2 | c.1247G= (p.Arg416=)
| |
| 20 | g.44118546C>G | CA409101741 | JPH2 | c.1247G>C (p.Arg416Pro)
| |
| 20 | g.44118546C>T | CA9868693 | JPH2 | c.1247G>A (p.Arg416His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118547G>A | CA335235 | JPH2 | c.1246C>T (p.Arg416Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118547G>C | CA409101742 | JPH2 | c.1246C>G (p.Arg416Gly)
| |
| 20 | g.44118547G= | CA2365626457 | JPH2 | c.1246C= (p.Arg416=)
| |
| 20 | g.44118547G>T | CA409101743 | JPH2 | c.1246C>A (p.Arg416Ser)
| |
| 20 | g.44118548A>C | CA510571383 | JPH2 | c.1245T>G (p.Ala415=)
| |
| 20 | g.44118548A>G | CA510571384 | JPH2 | c.1245T>C (p.Ala415=)
| |
| 20 | g.44118548A>T | CA510571385 | JPH2 | c.1245T>A (p.Ala415=)
| |
| 20 | g.44118549G>A | CA409101744 | JPH2 | c.1244C>T (p.Ala415Val)
| |
| 20 | g.44118549G>C | CA409101745 | JPH2 | c.1244C>G (p.Ala415Gly)
| |
| 20 | g.44118549G>T | CA409101746 | JPH2 | c.1244C>A (p.Ala415Asp)
| gnomAD v4 |
| 20 | g.44118550C>A | CA409101748 | JPH2 | c.1243G>T (p.Ala415Ser)
| ClinVar |
| 20 | g.44118550C= | CA2365626458 | JPH2 | c.1243G= (p.Ala415=)
| |
| 20 | g.44118550C>G | CA409101749 | JPH2 | c.1243G>C (p.Ala415Pro)
| dbSNP gnomAD v2 |
| 20 | g.44118550C>T | CA409101747 | JPH2 | c.1243G>A (p.Ala415Thr)
| |
| 20 | g.44118551A>C | CA409101750 | JPH2 | c.1242T>G (p.Ile414Met)
| |
| 20 | g.44118551A>G | CA510571386 | JPH2 | c.1242T>C (p.Ile414=)
| |
| 20 | g.44118551A>T | CA510571387 | JPH2 | c.1242T>A (p.Ile414=)
| |
| 20 | g.44118552A>C | CA409101751 | JPH2 | c.1241T>G (p.Ile414Ser)
| |
| 20 | g.44118552A>G | CA409101752 | JPH2 | c.1241T>C (p.Ile414Thr)
| |
| 20 | g.44118552A>T | CA409101753 | JPH2 | c.1241T>A (p.Ile414Asn)
| |
| 20 | g.44118553T>A | CA409101754 | JPH2 | c.1240A>T (p.Ile414Phe)
| COSMIC |
| 20 | g.44118553T>C | CA9868694 | JPH2 | c.1240A>G (p.Ile414Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118553T>G | CA409101755 | JPH2 | c.1240A>C (p.Ile414Leu)
| dbSNP |
| 20 | g.44118553T= | CA2365626459 | JPH2 | c.1240A= (p.Ile414=)
| |
| 20 | g.44118554G>A | CA510571388 | JPH2 | c.1239C>T (p.Asn413=)
| gnomAD v4 |
| 20 | g.44118554G>C | CA409101756 | JPH2 | c.1239C>G (p.Asn413Lys)
| |
| 20 | g.44118554G>T | CA409101757 | JPH2 | c.1239C>A (p.Asn413Lys)
| gnomAD v4 |
| 20 | g.44118555T>A | CA409101758 | JPH2 | c.1238A>T (p.Asn413Ile)
| |
| 20 | g.44118555T>C | CA314643234 | JPH2 | c.1238A>G (p.Asn413Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118555T>G | CA409101759 | JPH2 | c.1238A>C (p.Asn413Thr)
| gnomAD v4 |
| 20 | g.44118555T= | CA2365626460 | JPH2 | c.1238A= (p.Asn413=)
| |
| 20 | g.44118556T>A | CA409101761 | JPH2 | c.1237A>T (p.Asn413Tyr)
| |
| 20 | g.44118556T>C | CA409101762 | JPH2 | c.1237A>G (p.Asn413Asp)
| |
| 20 | g.44118556T>G | CA409101760 | JPH2 | c.1237A>C (p.Asn413His)
| |
| 20 | g.44118557G>A | CA510571389 | JPH2 | c.1236C>T (p.Ser412=)
| |
| 20 | g.44118557G>C | CA510571390 | JPH2 | c.1236C>G (p.Ser412=)
| |
| 20 | g.44118557G>T | CA510571391 | JPH2 | c.1236C>A (p.Ser412=)
| |
| 20 | g.44118558G>A | CA409101763 | JPH2 | c.1235C>T (p.Ser412Phe)
| |
| 20 | g.44118558G>C | CA314643235 | JPH2 | c.1235C>G (p.Ser412Cys)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44118558G= | CA2365626461 | JPH2 | c.1235C= (p.Ser412=)
| |
| 20 | g.44118558G>T | CA409101764 | JPH2 | c.1235C>A (p.Ser412Tyr)
| |
| 20 | g.44118559A= | CA2365626462 | JPH2 | c.1234T= (p.Ser412=)
| |
| 20 | g.44118559A>C | CA409101765 | JPH2 | c.1234T>G (p.Ser412Ala)
| dbSNP |
| 20 | g.44118559A>G | CA409101766 | JPH2 | c.1234T>C (p.Ser412Pro)
| |
| 20 | g.44118559A>T | CA409101767 | JPH2 | c.1234T>A (p.Ser412Thr)
| |
| 20 | g.44118560C>A | CA409101769 | JPH2 | c.1233G>T (p.Glu411Asp)
| |
| 20 | g.44118560C= | CA2365626463 | JPH2 | c.1233G= (p.Glu411=)
| |
| 20 | g.44118560C>G | CA409101768 | JPH2 | c.1233G>C (p.Glu411Asp)
| |
| 20 | g.44118560C>T | CA9868695 | JPH2 | c.1233G>A (p.Glu411=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118561T>A | CA409101770 | JPH2 | c.1232A>T (p.Glu411Val)
| |
| 20 | g.44118561T>C | CA409101771 | JPH2 | c.1232A>G (p.Glu411Gly)
| gnomAD v4 |
| 20 | g.44118561T>G | CA409101772 | JPH2 | c.1232A>C (p.Glu411Ala)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44118561T= | CA2365626464 | JPH2 | c.1232A= (p.Glu411=)
| |
| 20 | g.44118562C>A | CA409101773 | JPH2 | c.1231G>T (p.Glu411Ter)
| |
| 20 | g.44118562C>G | CA409101774 | JPH2 | c.1231G>C (p.Glu411Gln)
| |
| 20 | g.44118562C>T | CA409101775 | JPH2 | c.1231G>A (p.Glu411Lys)
| |
| 20 | g.44118563C>A | CA409101776 | JPH2 | c.1230G>T (p.Gln410His)
| |
| 20 | g.44118563C>G | CA409101777 | JPH2 | c.1230G>C (p.Gln410His)
| |
| 20 | g.44118563C>T | CA510571392 | JPH2 | c.1230G>A (p.Gln410=)
| |
| 20 | g.44118564T>A | CA409101778 | JPH2 | c.1229A>T (p.Gln410Leu)
| |
| 20 | g.44118564T>C | CA409101780 | JPH2 | c.1229A>G (p.Gln410Arg)
| dbSNP gnomAD v4 |
| 20 | g.44118564T>G | CA409101779 | JPH2 | c.1229A>C (p.Gln410Pro)
| |
| 20 | g.44118564T= | CA2365626465 | JPH2 | c.1229A= (p.Gln410=)
| |
| 20 | g.44118565G>A | CA409101781 | JPH2 | c.1228C>T (p.Gln410Ter)
| |
| 20 | g.44118565G>C | CA409101783 | JPH2 | c.1228C>G (p.Gln410Glu)
| |
| 20 | g.44118565G>T | CA409101782 | JPH2 | c.1228C>A (p.Gln410Lys)
| |
| 20 | g.44118566G>A | CA510571393 | JPH2 | c.1227C>T (p.Asn409=)
| dbSNP |
| 20 | g.44118566G>C | CA351768 | JPH2 | c.1227C>G (p.Asn409Lys)
| ClinVar dbSNP |
| 20 | g.44118566G= | CA2365626466 | JPH2 | c.1227C= (p.Asn409=)
| |
| 20 | g.44118566G>T | CA409101784 | JPH2 | c.1227C>A (p.Asn409Lys)
| |
| 20 | g.44118567T>A | CA409101785 | JPH2 | c.1226A>T (p.Asn409Ile)
| |
| 20 | g.44118567T>C | CA409101786 | JPH2 | c.1226A>G (p.Asn409Ser)
| gnomAD v4 |
| 20 | g.44118567T>G | CA409101787 | JPH2 | c.1226A>C (p.Asn409Thr)
| |
| 20 | g.44118568T>A | CA409101788 | JPH2 | c.1225A>T (p.Asn409Tyr)
| |
| 20 | g.44118568T>C | CA409101789 | JPH2 | c.1225A>G (p.Asn409Asp)
| |
| 20 | g.44118568T>G | CA409101790 | JPH2 | c.1225A>C (p.Asn409His)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118568T= | CA2365626467 | JPH2 | c.1225A= (p.Asn409=)
| |
| 20 | g.44118569G>A | CA510571394 | JPH2 | c.1224C>T (p.Ala408=)
| |
| 20 | g.44118569G>C | CA510571396 | JPH2 | c.1224C>G (p.Ala408=)
| |
| 20 | g.44118569G>T | CA510571395 | JPH2 | c.1224C>A (p.Ala408=)
| gnomAD v4 |
| 20 | g.44118570G>A | CA409101791 | JPH2 | c.1223C>T (p.Ala408Val)
| |
| 20 | g.44118570G>C | CA409101792 | JPH2 | c.1223C>G (p.Ala408Gly)
| |
| 20 | g.44118570G>T | CA409101793 | JPH2 | c.1223C>A (p.Ala408Asp)
| gnomAD v4 |
| 20 | g.44118571C>A | CA409101794 | JPH2 | c.1222G>T (p.Ala408Ser)
| |
| 20 | g.44118571C>G | CA409101795 | JPH2 | c.1222G>C (p.Ala408Pro)
| |
| 20 | g.44118571C>T | CA409101796 | JPH2 | c.1222G>A (p.Ala408Thr)
| gnomAD v4 |
| 20 | g.44118572A>C | CA510571397 | JPH2 | c.1221T>G (p.Ala407=)
| |
| 20 | g.44118572A>G | CA510571398 | JPH2 | c.1221T>C (p.Ala407=)
| |
| 20 | g.44118572A>T | CA510571399 | JPH2 | c.1221T>A (p.Ala407=)
| |
| 20 | g.44118573G>A | CA409101797 | JPH2 | c.1220C>T (p.Ala407Val)
| |
| 20 | g.44118573G>C | CA409101799 | JPH2 | c.1220C>G (p.Ala407Gly)
| |
| 20 | g.44118573G= | CA2365626468 | JPH2 | c.1220C= (p.Ala407=)
| |
| 20 | g.44118573G>T | CA409101798 | JPH2 | c.1220C>A (p.Ala407Asp)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44118574C>A | CA409101800 | JPH2 | c.1219G>T (p.Ala407Ser)
| |
| 20 | g.44118574C>G | CA409101801 | JPH2 | c.1219G>C (p.Ala407Pro)
| |
| 20 | g.44118574C>T | CA409101802 | JPH2 | c.1219G>A (p.Ala407Thr)
| gnomAD v4 |
| 20 | g.44118574_44118575insGCG | CA2515159185 | JPH2 | c.1218_1219insCGC (p.Leu406_Ala407insArg)
| |
| 20 | g.44118575C>A | CA510571400 | JPH2 | c.1218G>T (p.Leu406=)
| |
| 20 | g.44118575C= | CA2365626469 | JPH2 | c.1218G= (p.Leu406=)
| |
| 20 | g.44118575C>G | CA510571401 | JPH2 | c.1218G>C (p.Leu406=)
| |
| 20 | g.44118575C>T | CA9868696 | JPH2 | c.1218G>A (p.Leu406=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44118575_44118576del | CA2552008756 | JPH2 | c.1217_1218del (p.Leu406ArgfsTer?)
| |
| 20 | g.44118576A= | CA2365626470 | JPH2 | c.1217T= (p.Leu406=)
| |
| 20 | g.44118576A>C | CA409101803 | JPH2 | c.1217T>G (p.Leu406Arg)
| |
| 20 | g.44118576A>G | CA9868697 | JPH2 | c.1217T>C (p.Leu406Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118576A>T | CA409101804 | JPH2 | c.1217T>A (p.Leu406Gln)
| |
| 20 | g.44118577G>A | CA510571402 | JPH2 | c.1216C>T (p.Leu406=)
| |
| 20 | g.44118577G>C | CA409101805 | JPH2 | c.1216C>G (p.Leu406Val)
| |
| 20 | g.44118577G>T | CA409101806 | JPH2 | c.1216C>A (p.Leu406Met)
| COSMIC |
| 20 | g.44118577_44118578insC | CA2503498147 | JPH2 | c.1215_1216insG (p.Leu406AlafsTer?)
| |
| 20 | g.44118578G>A | CA510571403 | JPH2 | c.1215C>T (p.Ala405=)
| |
| 20 | g.44118578G>C | CA510571404 | JPH2 | c.1215C>G (p.Ala405=)
| |
| 20 | g.44118578G>T | CA510571405 | JPH2 | c.1215C>A (p.Ala405=)
| gnomAD v4 COSMIC |
| 20 | g.44118579G>A | CA409101808 | JPH2 | c.1214C>T (p.Ala405Val)
| |
| 20 | g.44118579G>C | CA409101809 | JPH2 | c.1214C>G (p.Ala405Gly)
| dbSNP |
| 20 | g.44118579G= | CA2365626471 | JPH2 | c.1214C= (p.Ala405=)
| |
| 20 | g.44118579G>T | CA409101807 | JPH2 | c.1214C>A (p.Ala405Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118580C>A | CA16043135 | JPH2 | c.1213G>T (p.Ala405Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118580C= | CA2365626472 | JPH2 | c.1213G= (p.Ala405=)
| |
| 20 | g.44118580C>G | CA409101810 | JPH2 | c.1213G>C (p.Ala405Pro)
| |
| 20 | g.44118580C>T | CA9868698 | JPH2 | c.1213G>A (p.Ala405Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118581G>A | CA9868699 | JPH2 | c.1212C>T (p.Ala404=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118581G>C | CA510571406 | JPH2 | c.1212C>G (p.Ala404=)
| |
| 20 | g.44118581G= | CA2365626473 | JPH2 | c.1212C= (p.Ala404=)
| |
| 20 | g.44118581G>T | CA510571407 | JPH2 | c.1212C>A (p.Ala404=)
| ClinVar gnomAD v4 |
| 20 | g.44118581_44118582insA | CA2518976594 | JPH2 | c.1211_1212insT (p.Ala405ArgfsTer?)
| |
| 20 | g.44118582G>A | CA409101811 | JPH2 | c.1211C>T (p.Ala404Val)
| gnomAD v4 COSMIC |
| 20 | g.44118582G>C | CA409101812 | JPH2 | c.1211C>G (p.Ala404Gly)
| |
| 20 | g.44118582G>T | CA409101813 | JPH2 | c.1211C>A (p.Ala404Asp)
| gnomAD v4 |
| 20 | g.44118582_44118583insTT | CA2511778009 | JPH2 | c.1210_1211insAA (p.Ala404GlufsTer?)
| |
| 20 | g.44118583C>A | CA409101814 | JPH2 | c.1210G>T (p.Ala404Ser)
| gnomAD v4 COSMIC |
| 20 | g.44118583C>G | CA409101815 | JPH2 | c.1210G>C (p.Ala404Pro)
| |
| 20 | g.44118583C>T | CA409101816 | JPH2 | c.1210G>A (p.Ala404Thr)
| gnomAD v4 |
| 20 | g.44118584C>A | CA409101817 | JPH2 | c.1209G>T (p.Gln403His)
| |
| 20 | g.44118584C>G | CA409101818 | JPH2 | c.1209G>C (p.Gln403His)
| |
| 20 | g.44118584C>T | CA510571408 | JPH2 | c.1209G>A (p.Gln403=)
| |
| 20 | g.44118585T>A | CA409101821 | JPH2 | c.1208A>T (p.Gln403Leu)
| |
| 20 | g.44118585T>C | CA409101819 | JPH2 | c.1208A>G (p.Gln403Arg)
| gnomAD v4 |
| 20 | g.44118585T>G | CA409101820 | JPH2 | c.1208A>C (p.Gln403Pro)
| |
| 20 | g.44118585_44118586insTCGTGATCCGAGGGATCAG | CA2543264218 | JPH2 | c.1207_1208insCTGATCCCTCGGATCACGA (p.Gln403ProfsTer?)
| |
| 20 | g.44118586G>A | CA409101822 | JPH2 | c.1207C>T (p.Gln403Ter)
| |
| 20 | g.44118586G>C | CA314643243 | JPH2 | c.1207C>G (p.Gln403Glu)
| ClinVar dbSNP |
| 20 | g.44118586G= | CA2365626474 | JPH2 | c.1207C= (p.Gln403=)
| |
| 20 | g.44118586G>T | CA409101823 | JPH2 | c.1207C>A (p.Gln403Lys)
| gnomAD v4 |
| 20 | g.44118587T>A | CA409101824 | JPH2 | c.1206A>T (p.Glu402Asp)
| |
| 20 | g.44118587T>C | CA510571409 | JPH2 | c.1206A>G (p.Glu402=)
| gnomAD v4 |
| 20 | g.44118587T>G | CA409101825 | JPH2 | c.1206A>C (p.Glu402Asp)
| |
| 20 | g.44118588T>A | CA409101826 | JPH2 | c.1205A>T (p.Glu402Val)
| |
| 20 | g.44118588T>C | CA409101827 | JPH2 | c.1205A>G (p.Glu402Gly)
| |
| 20 | g.44118588T>G | CA409101828 | JPH2 | c.1205A>C (p.Glu402Ala)
| |
| 20 | g.44118589C>A | CA409101829 | JPH2 | c.1204G>T (p.Glu402Ter)
| |
| 20 | g.44118589C= | CA2365626475 | JPH2 | c.1204G= (p.Glu402=)
| |
| 20 | g.44118589C>G | CA409101830 | JPH2 | c.1204G>C (p.Glu402Gln)
| |
| 20 | g.44118589C>T | CA334429 | JPH2 | c.1204G>A (p.Glu402Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118590C>A | CA510571411 | JPH2 | c.1203G>T (p.Ala401=)
| |
| 20 | g.44118590C= | CA2365626476 | JPH2 | c.1203G= (p.Ala401=)
| |
| 20 | g.44118590C>G | CA510571410 | JPH2 | c.1203G>C (p.Ala401=)
| |
| 20 | g.44118590C>T | CA9868700 | JPH2 | c.1203G>A (p.Ala401=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44118590_44118591insAGTCG | CA2546883925 | JPH2 | c.1202_1203insCGACT (p.Glu402AspfsTer?)
| |
| 20 | g.44118591G>A | CA9868701 | JPH2 | c.1202C>T (p.Ala401Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118591G>C | CA409101832 | JPH2 | c.1202C>G (p.Ala401Gly)
| dbSNP |
| 20 | g.44118591G= | CA2365626477 | JPH2 | c.1202C= (p.Ala401=)
| |
| 20 | g.44118591G>T | CA409101831 | JPH2 | c.1202C>A (p.Ala401Glu)
| gnomAD v4 |
| 20 | g.44118592C>A | CA409101835 | JPH2 | c.1201G>T (p.Ala401Ser)
| |
| 20 | g.44118592C= | CA2365626478 | JPH2 | c.1201G= (p.Ala401=)
| |
| 20 | g.44118592C>G | CA409101833 | JPH2 | c.1201G>C (p.Ala401Pro)
| |
| 20 | g.44118592C>T | CA409101834 | JPH2 | c.1201G>A (p.Ala401Thr)
| dbSNP gnomAD v2 |
| 20 | g.44118593T>A | CA510571412 | JPH2 | c.1200A>T (p.Ala400=)
| |
| 20 | g.44118593T>C | CA510571413 | JPH2 | c.1200A>G (p.Ala400=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118593T>G | CA510571414 | JPH2 | c.1200A>C (p.Ala400=)
| |
| 20 | g.44118593T= | CA2365626479 | JPH2 | c.1200A= (p.Ala400=)
| |
| 20 | g.44118593_44118594insCCGTA | CA2571974199 | JPH2 | c.1199_1200insTACGG (p.Ala401ThrfsTer?)
| |
| 20 | g.44118594G>A | CA9868702 | JPH2 | c.1199C>T (p.Ala400Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118594G>C | CA409101836 | JPH2 | c.1199C>G (p.Ala400Gly)
| |
| 20 | g.44118594G= | CA2365626480 | JPH2 | c.1199C= (p.Ala400=)
| |
| 20 | g.44118594G>T | CA409101837 | JPH2 | c.1199C>A (p.Ala400Glu)
| gnomAD v4 |
| 20 | g.44118595C>A | CA409101838 | JPH2 | c.1198G>T (p.Ala400Ser)
| |
| 20 | g.44118595C= | CA2365626481 | JPH2 | c.1198G= (p.Ala400=)
| |
| 20 | g.44118595C>G | CA409101839 | JPH2 | c.1198G>C (p.Ala400Pro)
| |
| 20 | g.44118595C>T | CA409101840 | JPH2 | c.1198G>A (p.Ala400Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118595_44118596insGCTTCAGGGT | CA2534987520 | JPH2 | c.1197_1198insACCCTGAAGC (p.Ala400ThrfsTer?)
| |
| 20 | g.44118596C>A | CA409101841 | JPH2 | c.1197G>T (p.Glu399Asp)
| |
| 20 | g.44118596C>G | CA409101842 | JPH2 | c.1197G>C (p.Glu399Asp)
| |
| 20 | g.44118596C>T | CA510571415 | JPH2 | c.1197G>A (p.Glu399=)
| COSMIC |
| 20 | g.44118597T>A | CA409101843 | JPH2 | c.1196A>T (p.Glu399Val)
| |
| 20 | g.44118597T>C | CA409101844 | JPH2 | c.1196A>G (p.Glu399Gly)
| gnomAD v4 |
| 20 | g.44118597T>G | CA409101845 | JPH2 | c.1196A>C (p.Glu399Ala)
| |
| 20 | g.44118598C>A | CA409101846 | JPH2 | c.1195G>T (p.Glu399Ter)
| |
| 20 | g.44118598C>G | CA409101848 | JPH2 | c.1195G>C (p.Glu399Gln)
| |
| 20 | g.44118598C>T | CA409101847 | JPH2 | c.1195G>A (p.Glu399Lys)
| |
| 20 | g.44118598_44118599insCCAGGAA | CA2507170878 | JPH2 | c.1194_1195insTTCCTGG (p.Glu399PhefsTer?)
| |
| 20 | g.44118599A>C | CA510571416 | JPH2 | c.1194T>G (p.Ala398=)
| |
| 20 | g.44118599A>G | CA510571417 | JPH2 | c.1194T>C (p.Ala398=)
| |
| 20 | g.44118599A>T | CA510571418 | JPH2 | c.1194T>A (p.Ala398=)
| |
| 20 | g.44118600G>A | CA409101849 | JPH2 | c.1193C>T (p.Ala398Val)
| gnomAD v4 |
| 20 | g.44118600G>C | CA409101850 | JPH2 | c.1193C>G (p.Ala398Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118600G= | CA2365626482 | JPH2 | c.1193C= (p.Ala398=)
| |
| 20 | g.44118600G>T | CA409101851 | JPH2 | c.1193C>A (p.Ala398Asp)
| gnomAD v4 |
| 20 | g.44118601C>A | CA409101852 | JPH2 | c.1192G>T (p.Ala398Ser)
| |
| 20 | g.44118601C>G | CA409101853 | JPH2 | c.1192G>C (p.Ala398Pro)
| |
| 20 | g.44118601C>T | CA409101854 | JPH2 | c.1192G>A (p.Ala398Thr)
| |
| 20 | g.44118601_44118602insGGGA | CA2521655353 | JPH2 | c.1191_1192insTCCC (p.Ala398SerfsTer3)
| |
| 20 | g.44118602T>A | CA409101855 | JPH2 | c.1191A>T (p.Lys397Asn)
| |
| 20 | g.44118602T>C | CA510571419 | JPH2 | c.1191A>G (p.Lys397=)
| dbSNP |
| 20 | g.44118602T>G | CA409101856 | JPH2 | c.1191A>C (p.Lys397Asn)
| |
| 20 | g.44118602T= | CA2365626483 | JPH2 | c.1191A= (p.Lys397=)
| |
| 20 | g.44118604del | CA2652956034 | JPH2 | c.1191del (p.Ala398LeufsTer?)
| gnomAD v4 |
| 20 | g.44118603T>A | CA409101857 | JPH2 | c.1190A>T (p.Lys397Ile)
| |
| 20 | g.44118603T>C | CA409101858 | JPH2 | c.1190A>G (p.Lys397Arg)
| |
| 20 | g.44118603T>G | CA409101859 | JPH2 | c.1190A>C (p.Lys397Thr)
| |
| 20 | g.44118604T>A | CA409101861 | JPH2 | c.1189A>T (p.Lys397Ter)
| |
| 20 | g.44118604T>C | CA409101862 | JPH2 | c.1189A>G (p.Lys397Glu)
| |
| 20 | g.44118604T>G | CA409101860 | JPH2 | c.1189A>C (p.Lys397Gln)
| |
| 20 | g.44118605G>A | CA510571420 | JPH2 | c.1188C>T (p.Ala396=)
| |
| 20 | g.44118605G>C | CA510571421 | JPH2 | c.1188C>G (p.Ala396=)
| ClinVar gnomAD v4 |
| 20 | g.44118605G>T | CA510571422 | JPH2 | c.1188C>A (p.Ala396=)
| gnomAD v4 |
| 20 | g.44118606_44118607insACGCCGG | CA2510738882 | JPH2 | c.1188_1189insGGCGTCC (p.Lys397GlyfsTer5)
| |
| 20 | g.44118606G>A | CA409101863 | JPH2 | c.1187C>T (p.Ala396Val)
| |
| 20 | g.44118606G>C | CA409101864 | JPH2 | c.1187C>G (p.Ala396Gly)
| |
| 20 | g.44118606G>T | CA409101865 | JPH2 | c.1187C>A (p.Ala396Asp)
| |
| 20 | g.44118607C>A | CA9868703 | JPH2 | c.1186G>T (p.Ala396Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118607C= | CA2365626484 | JPH2 | c.1186G= (p.Ala396=)
| |
| 20 | g.44118607C>G | CA409101866 | JPH2 | c.1186G>C (p.Ala396Pro)
| |
| 20 | g.44118607C>T | CA200001 | JPH2 | c.1186G>A (p.Ala396Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118607_44118608delinsCC | CA2365626485 | JPH2 | c.1185_1186delinsGG (p.Lys395=)
| |
| 20 | g.44118607_44118608delinsTT | CA16616465 | JPH2 | c.1185_1186delinsAA (p.Ala396Thr)
| ClinVar dbSNP |
| 20 | g.44118608C>A | CA409101867 | JPH2 | c.1185G>T (p.Lys395Asn)
| |
| 20 | g.44118608C= | CA2365626486 | JPH2 | c.1185G= (p.Lys395=)
| |
| 20 | g.44118608C>G | CA409101868 | JPH2 | c.1185G>C (p.Lys395Asn)
| |
| 20 | g.44118608C>T | CA9868704 | JPH2 | c.1185G>A (p.Lys395=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118609T>A | CA409101869 | JPH2 | c.1184A>T (p.Lys395Met)
| |
| 20 | g.44118609T>C | CA409101870 | JPH2 | c.1184A>G (p.Lys395Arg)
| dbSNP gnomAD v2 |
| 20 | g.44118609T>G | CA409101871 | JPH2 | c.1184A>C (p.Lys395Thr)
| |
| 20 | g.44118609T= | CA2365626487 | JPH2 | c.1184A= (p.Lys395=)
| |
| 20 | g.44118610T>A | CA409101873 | JPH2 | c.1183A>T (p.Lys395Ter)
| |
| 20 | g.44118610T>C | CA409101874 | JPH2 | c.1183A>G (p.Lys395Glu)
| |
| 20 | g.44118610T>G | CA409101872 | JPH2 | c.1183A>C (p.Lys395Gln)
| |
| 20 | g.44118611G>A | CA510571423 | JPH2 | c.1182C>T (p.Ala394=)
| |
| 20 | g.44118611G>C | CA510571424 | JPH2 | c.1182C>G (p.Ala394=)
| |
| 20 | g.44118611G>T | CA510571425 | JPH2 | c.1182C>A (p.Ala394=)
| |
| 20 | g.44118612G>A | CA409101875 | JPH2 | c.1181C>T (p.Ala394Val)
| |
| 20 | g.44118612G>C | CA9868705 | JPH2 | c.1181C>G (p.Ala394Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118612G= | CA2365626488 | JPH2 | c.1181C= (p.Ala394=)
| |
| 20 | g.44118612G>T | CA409101876 | JPH2 | c.1181C>A (p.Ala394Asp)
| gnomAD v4 |
| 20 | g.44118613_44118614del | CA2580098214 | JPH2 | c.1180_1181del (p.Ala394GlnfsTer5)
| ClinVar |
| 20 | g.44118613C>A | CA409101877 | JPH2 | c.1180G>T (p.Ala394Ser)
| |
| 20 | g.44118613C= | CA2365626489 | JPH2 | c.1180G= (p.Ala394=)
| |
| 20 | g.44118613C>G | CA409101878 | JPH2 | c.1180G>C (p.Ala394Pro)
| |
| 20 | g.44118613C>T | CA9868706 | JPH2 | c.1180G>A (p.Ala394Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44118614G>A | CA333092 | JPH2 | c.1179C>T (p.His393=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118614G>C | CA409101879 | JPH2 | c.1179C>G (p.His393Gln)
| |
| 20 | g.44118614G= | CA2365626490 | JPH2 | c.1179C= (p.His393=)
| |
| 20 | g.44118614G>T | CA409101880 | JPH2 | c.1179C>A (p.His393Gln)
| gnomAD v4 |
