Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.21882519T>A | CA412570465 | MBTPS2 | c.1424T>A (p.Phe475Tyr) | |
X | g.21882519T>C | CA121442 | MBTPS2 | c.1424T>C (p.Phe475Ser) | ClinVar dbSNP |
X | g.21882519T>G | CA412570466 | MBTPS2 | c.1424T>G (p.Phe475Cys) | |
X | g.21882519T= | CA2419093289 | MBTPS2 | c.1424T= (p.Phe475=) | |
X | g.21882520C>A | CA412570468 | MBTPS2 | c.1425C>A (p.Phe475Leu) | |
X | g.21882520C= | CA2419093290 | MBTPS2 | c.1425C= (p.Phe475=) | |
X | g.21882520C>G | CA412570470 | MBTPS2 | c.1425C>G (p.Phe475Leu) | |
X | g.21882520C>T | CA327504813 | MBTPS2 | c.1425C>T (p.Phe475=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.21882521T>A | CA412570473 | MBTPS2 | c.1426T>A (p.Leu476Met) | gnomAD v4 |
X | g.21882521T>C | CA515423200 | MBTPS2 | c.1426T>C (p.Leu476=) | gnomAD v4 |
X | g.21882521T>G | CA412570472 | MBTPS2 | c.1426T>G (p.Leu476Val) | |
X | g.21882522T>A | CA412570475 | MBTPS2 | c.1427T>A (p.Leu476Ter) | |
X | g.21882522T>C | CA412570477 | MBTPS2 | c.1427T>C (p.Leu476Ser) | |
X | g.21882522T>G | CA412570479 | MBTPS2 | c.1427T>G (p.Leu476Trp) | |
X | g.21882523G>A | CA515423201 | MBTPS2 | c.1428G>A (p.Leu476=) | |
X | g.21882523G>C | CA412570480 | MBTPS2 | c.1428G>C (p.Leu476Phe) | |
X | g.21882523G>T | CA412570482 | MBTPS2 | c.1428G>T (p.Leu476Phe) | |
X | g.21882524G>A | CA412570483 | MBTPS2 | c.1429G>A (p.Asp477Asn) | |
X | g.21882524G>C | CA412570485 | MBTPS2 | c.1429G>C (p.Asp477His) | |
X | g.21882524G>T | CA412570486 | MBTPS2 | c.1429G>T (p.Asp477Tyr) | |
X | g.21882525A>C | CA412570488 | MBTPS2 | c.1430A>C (p.Asp477Ala) | |
X | g.21882525A>G | CA412570493 | MBTPS2 | c.1430A>G (p.Asp477Gly) | gnomAD v4 |
X | g.21882525A>T | CA412570494 | MBTPS2 | c.1430A>T (p.Asp477Val) | |
X | g.21882526T>A | CA412570496 | MBTPS2 | c.1431T>A (p.Asp477Glu) | |
X | g.21882526T>C | CA10367686 | MBTPS2 | c.1431T>C (p.Asp477=) | dbSNP ExAC gnomAD v4 |
X | g.21882526T>G | CA412570498 | MBTPS2 | c.1431T>G (p.Asp477Glu) | |
X | g.21882526T= | CA2419093291 | MBTPS2 | c.1431T= (p.Asp477=) | |
X | g.21882527G>A | CA412570502 | MBTPS2 | c.1432G>A (p.Ala478Thr) | |
X | g.21882527G>C | CA412570501 | MBTPS2 | c.1432G>C (p.Ala478Pro) | |
X | g.21882527G>T | CA412570499 | MBTPS2 | c.1432G>T (p.Ala478Ser) | |
X | g.21882528C>A | CA412570508 | MBTPS2 | c.1433C>A (p.Ala478Asp) | |
X | g.21882528C>G | CA412570505 | MBTPS2 | c.1433C>G (p.Ala478Gly) | |
X | g.21882528C>T | CA412570507 | MBTPS2 | c.1433C>T (p.Ala478Val) | |
X | g.21882529C>A | CA515423202 | MBTPS2 | c.1434C>A (p.Ala478=) | |
X | g.21882529C>G | CA515423203 | MBTPS2 | c.1434C>G (p.Ala478=) | |
X | g.21882529C>T | CA515423204 | MBTPS2 | c.1434C>T (p.Ala478=) | |
X | g.21882530A= | CA2419093292 | MBTPS2 | c.1435A= (p.Thr479=) | |
X | g.21882530A>C | CA412570509 | MBTPS2 | c.1435A>C (p.Thr479Pro) | |
X | g.21882530A>G | CA412570510 | MBTPS2 | c.1435A>G (p.Thr479Ala) | |
X | g.21882530A>T | CA412570513 | MBTPS2 | c.1435A>T (p.Thr479Ser) | dbSNP |
X | g.21882531C>A | CA412570514 | MBTPS2 | c.1436C>A (p.Thr479Asn) | |
X | g.21882531C>G | CA412570516 | MBTPS2 | c.1436C>G (p.Thr479Ser) | |
X | g.21882531C>T | CA412570517 | MBTPS2 | c.1436C>T (p.Thr479Ile) | |
X | g.21882532C>A | CA515423205 | MBTPS2 | c.1437C>A (p.Thr479=) | |
X | g.21882532C= | CA2419093293 | MBTPS2 | c.1437C= (p.Thr479=) | |
X | g.21882532C>G | CA515423206 | MBTPS2 | c.1437C>G (p.Thr479=) | |
X | g.21882532C>T | CA10367687 | MBTPS2 | c.1437C>T (p.Thr479=) | dbSNP ExAC |
X | g.21882533C>A | CA412570520 | MBTPS2 | c.1438C>A (p.Leu480Ile) | |
X | g.21882533C>G | CA412570521 | MBTPS2 | c.1438C>G (p.Leu480Val) | |
X | g.21882533C>T | CA412570523 | MBTPS2 | c.1438C>T (p.Leu480Phe) |