| 20 | g.44118468_44118497delinsAGCCCTACCCTGCCCATCCTTCCCTGGCTG | CA2365626421 | JPH2 | c.1288+8_1288+37delinsCAGCCAGGGAAGGATGGGCAGGGTAGGGCT (n.1288+8_1288+37delinsCAGCCAGGGAAGGATGGGCAGGGTAGGGCT)
| |
| 20 | g.44118477_44118505del | CA2365626422 | JPH2 | c.1288+8_1288+36del
| ClinVar dbSNP |
| 20 | g.44118480C>T | CA2577404026 | JPH2 | c.1288+25G>A (n.1288+25G>A)
| gnomAD v4 |
| 20 | g.44118482del | CA2652956014 | JPH2 | c.1288+25del (n.1288+25del)
| gnomAD v4 |
| 20 | g.44118481C>A | CA744698586 | JPH2 | c.1288+24G>T (n.1288+24G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118481C= | CA2365626431 | JPH2 | c.1288+24G= (n.1288+24G=)
| |
| 20 | g.44118481C>G | CA2652956016 | JPH2 | c.1288+24G>C (n.1288+24G>C)
| gnomAD v4 |
| 20 | g.44118481C>T | CA635961018 | JPH2 | c.1288+24G>A (n.1288+24G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118482C= | CA2365626432 | JPH2 | c.1288+23G= (n.1288+23G=)
| |
| 20 | g.44118482C>T | CA9868683 | JPH2 | c.1288+23G>A (n.1288+23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118483A= | CA2365626433 | JPH2 | c.1288+22T= (n.1288+22T=)
| |
| 20 | g.44118483A>T | CA9868684 | JPH2 | c.1288+22T>A (n.1288+22T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118485C= | CA2365626434 | JPH2 | c.1288+20G= (n.1288+20G=)
| |
| 20 | g.44118485C>T | CA9868685 | JPH2 | c.1288+20G>A (n.1288+20G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118487_44118500del | CA2652956017 | JPH2 | c.1288+7_1288+20del (n.1288+7_1288+20del)
| gnomAD v4 |
| 20 | g.44118486C= | CA2365626435 | JPH2 | c.1288+19G= (n.1288+19G=)
| |
| 20 | g.44118486C>T | CA635961019 | JPH2 | c.1288+19G>A (n.1288+19G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118488del | CA2652956018 | JPH2 | c.1288+18del (n.1288+18del)
| gnomAD v4 |
| 20 | g.44118489C>T | CA2652956019 | JPH2 | c.1288+16G>A (n.1288+16G>A)
| gnomAD v4 |
| 20 | g.44118490C= | CA2365626436 | JPH2 | c.1288+15G= (n.1288+15G=)
| |
| 20 | g.44118490C>G | CA9868686 | JPH2 | c.1288+15G>C (n.1288+15G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118499_44118512del | CA2652956020 | JPH2 | c.1288+2_1288+15del
| gnomAD v4 |
| 20 | g.44118491C= | CA2365626437 | JPH2 | c.1288+14G= (n.1288+14G=)
| |
| 20 | g.44118491C>G | CA635961020 | JPH2 | c.1288+14G>C (n.1288+14G>C)
| dbSNP gnomAD v2 |
| 20 | g.44118491C>T | CA2652956021 | JPH2 | c.1288+14G>A (n.1288+14G>A)
| gnomAD v4 |
| 20 | g.44118492T>C | CA635961021 | JPH2 | c.1288+13A>G (n.1288+13A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118492T= | CA2365626438 | JPH2 | c.1288+13A= (n.1288+13A=)
| |
| 20 | g.44118493G>T | CA2577404027 | JPH2 | c.1288+12C>A (n.1288+12C>A)
| gnomAD v4 |
| 20 | g.44118494del | CA2652956023 | JPH2 | c.1288+12del (n.1288+12del)
| gnomAD v4 |
| 20 | g.44118494G>A | CA2652956024 | JPH2 | c.1288+11C>T (n.1288+11C>T)
| gnomAD v4 |
| 20 | g.44118494G>T | CA2652956025 | JPH2 | c.1288+11C>A (n.1288+11C>A)
| gnomAD v4 |
| 20 | g.44118495C>A | CA2652956026 | JPH2 | c.1288+10G>T (n.1288+10G>T)
| gnomAD v4 |
| 20 | g.44118495C>G | CA2739277165 | JPH2 | c.1288+10G>C (n.1288+10G>C)
| ClinVar |
| 20 | g.44118495C>T | CA2577404028 | JPH2 | c.1288+10G>A (n.1288+10G>A)
| gnomAD v4 |
| 20 | g.44118497G>A | CA2365626440 | JPH2 | c.1288+8C>T (n.1288+8C>T)
| dbSNP |
| 20 | g.44118497G= | CA2365626439 | JPH2 | c.1288+8C= (n.1288+8C=)
| |
| 20 | g.44118497G>T | CA635961022 | JPH2 | c.1288+8C>A (n.1288+8C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118498del | CA2652956027 | JPH2 | c.1288+8del (n.1288+8del)
| gnomAD v4 |
| 20 | g.44118498G>A | CA2652956028 | JPH2 | c.1288+7C>T (n.1288+7C>T)
| gnomAD v4 |
| 20 | g.44118498G>T | CA2593121497 | JPH2 | c.1288+7C>A (n.1288+7C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118499C>G | CA2652956029 | JPH2 | c.1288+6G>C (n.1288+6G>C)
| gnomAD v4 |
| 20 | g.44118499C>T | CA2577404029 | JPH2 | c.1288+6G>A (n.1288+6G>A)
| gnomAD v4 |
| 20 | g.44118501del | CA2580098208 | JPH2 | c.1288+6del (n.1288+6del)
| ClinVar |
| 20 | g.44118500C>G | CA2652956030 | JPH2 | c.1288+5G>C (n.1288+5G>C)
| gnomAD v4 |
| 20 | g.44118501C= | CA2365626441 | JPH2 | c.1288+4G= (n.1288+4G=)
| |
| 20 | g.44118501C>T | CA314643224 | JPH2 | c.1288+4G>A (n.1288+4G>A)
| ClinVar dbSNP |
| 20 | g.44118502T>C | CA2577404030 | JPH2 | c.1288+3A>G (n.1288+3A>G)
| gnomAD v4 |
| 20 | g.44118503A>C | CA409101650 | JPH2 | c.1288+2T>G (n.1288+2T>G)
| |
| 20 | g.44118503A>G | CA409101648 | JPH2 | c.1288+2T>C (n.1288+2T>C)
| |
| 20 | g.44118503A>T | CA409101649 | JPH2 | c.1288+2T>A (n.1288+2T>A)
| |
| 20 | g.44118504C>A | CA409101651 | JPH2 | c.1288+1G>T (n.1288+1G>T)
| |
| 20 | g.44118504C= | CA2365626442 | JPH2 | c.1288+1G= (n.1288+1G=)
| |
| 20 | g.44118504C>G | CA409101652 | JPH2 | c.1288+1G>C (n.1288+1G>C)
| |
| 20 | g.44118504C>T | CA409101653 | JPH2 | c.1288+1G>A (n.1288+1G>A)
| dbSNP gnomAD v2 |
| 20 | g.44118505C>A | CA9868687 | JPH2 | c.1288G>T (p.Gly430Cys)
| dbSNP ExAC gnomAD v2 |
| 20 | g.44118505C= | CA2365626443 | JPH2 | c.1288G= (p.Gly430=)
| |
| 20 | g.44118505C>G | CA409101654 | JPH2 | c.1288G>C (p.Gly430Arg)
| |
| 20 | g.44118505C>T | CA9868688 | JPH2 | c.1288G>A (p.Gly430Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118506T>A | CA510571353 | JPH2 | c.1287A>T (p.Pro429=)
| |
| 20 | g.44118506T>C | CA510571354 | JPH2 | c.1287A>G (p.Pro429=)
| |
| 20 | g.44118506T>G | CA510571355 | JPH2 | c.1287A>C (p.Pro429=)
| |
| 20 | g.44118507G>A | CA409101655 | JPH2 | c.1286C>T (p.Pro429Leu)
| gnomAD v4 |
| 20 | g.44118507G>C | CA409101656 | JPH2 | c.1286C>G (p.Pro429Arg)
| |
| 20 | g.44118507G>T | CA409101657 | JPH2 | c.1286C>A (p.Pro429Gln)
| |
| 20 | g.44118508G>A | CA409101658 | JPH2 | c.1285C>T (p.Pro429Ser)
| |
| 20 | g.44118508G>C | CA409101659 | JPH2 | c.1285C>G (p.Pro429Ala)
| |
| 20 | g.44118508G>T | CA409101660 | JPH2 | c.1285C>A (p.Pro429Thr)
| |
| 20 | g.44118509C>A | CA409101661 | JPH2 | c.1284G>T (p.Gln428His)
| |
| 20 | g.44118509C>G | CA409101662 | JPH2 | c.1284G>C (p.Gln428His)
| |
| 20 | g.44118509C>T | CA510571356 | JPH2 | c.1284G>A (p.Gln428=)
| gnomAD v4 |
| 20 | g.44118510T>A | CA409101663 | JPH2 | c.1283A>T (p.Gln428Leu)
| COSMIC |
| 20 | g.44118510T>C | CA409101665 | JPH2 | c.1283A>G (p.Gln428Arg)
| |
| 20 | g.44118510T>G | CA409101664 | JPH2 | c.1283A>C (p.Gln428Pro)
| |
| 20 | g.44118511G>A | CA088112 | JPH2 | c.1282C>T (p.Gln428Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118511G>C | CA409101667 | JPH2 | c.1282C>G (p.Gln428Glu)
| |
| 20 | g.44118511G= | CA2365626444 | JPH2 | c.1282C= (p.Gln428=)
| |
| 20 | g.44118511G>T | CA409101666 | JPH2 | c.1282C>A (p.Gln428Lys)
| gnomAD v4 |
| 20 | g.44118512G>A | CA510571357 | JPH2 | c.1281C>T (p.Tyr427=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118512G>C | CA409101668 | JPH2 | c.1281C>G (p.Tyr427Ter)
| COSMIC |
| 20 | g.44118512G= | CA2365626445 | JPH2 | c.1281C= (p.Tyr427=)
| |
| 20 | g.44118512G>T | CA409101669 | JPH2 | c.1281C>A (p.Tyr427Ter)
| COSMIC |
| 20 | g.44118513T>A | CA409101670 | JPH2 | c.1280A>T (p.Tyr427Phe)
| |
| 20 | g.44118513T>C | CA409101671 | JPH2 | c.1280A>G (p.Tyr427Cys)
| |
| 20 | g.44118513T>G | CA409101672 | JPH2 | c.1280A>C (p.Tyr427Ser)
| |
| 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 |
