OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| X | g.21882534T>A | CA412570524 | MBTPS2 | c.1439T>A (p.Leu480His) | |
| X | g.21882534T>C | CA412570526 | MBTPS2 | c.1439T>C (p.Leu480Pro) | |
| X | g.21882534T>G | CA412570528 | MBTPS2 | c.1439T>G (p.Leu480Arg) | |
| X | g.21882535T>A | CA515423207 | MBTPS2 | c.1440T>A (p.Leu480=) | |
| X | g.21882535T>C | CA515423208 | MBTPS2 | c.1440T>C (p.Leu480=) | |
| X | g.21882535T>G | CA515423209 | MBTPS2 | c.1440T>G (p.Leu480=) | |
| X | g.21882536A= | CA2419093294 | MBTPS2 | c.1441A= (p.Thr481=) | |
| X | g.21882536A>C | CA412570530 | MBTPS2 | c.1441A>C (p.Thr481Pro) | |
| X | g.21882536A>G | CA412570532 | MBTPS2 | c.1441A>G (p.Thr481Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21882536A>T | CA412570531 | MBTPS2 | c.1441A>T (p.Thr481Ser) | |
| X | g.21882537C>A | CA412570534 | MBTPS2 | c.1442C>A (p.Thr481Asn) | |
| X | g.21882537C>G | CA412570535 | MBTPS2 | c.1442C>G (p.Thr481Ser) | |
| X | g.21882537C>T | CA412570537 | MBTPS2 | c.1442C>T (p.Thr481Ile) | |
| X | g.21882538C>A | CA515423212 | MBTPS2 | c.1443C>A (p.Thr481=) | |
| X | g.21882538C>G | CA515423211 | MBTPS2 | c.1443C>G (p.Thr481=) | |
| X | g.21882538C>T | CA515423210 | MBTPS2 | c.1443C>T (p.Thr481=) | |
| X | g.21882539T>A | CA412570539 | MBTPS2 | c.1444T>A (p.Ser482Thr) | |
| X | g.21882539T>C | CA412570540 | MBTPS2 | c.1444T>C (p.Ser482Pro) | |
| X | g.21882539T>G | CA412570542 | MBTPS2 | c.1444T>G (p.Ser482Ala) | |
| X | g.21882540C>A | CA412570544 | MBTPS2 | c.1445C>A (p.Ser482Ter) | |
| X | g.21882540C>G | CA412570545 | MBTPS2 | c.1445C>G (p.Ser482Ter) | |
| X | g.21882540C>T | CA412570547 | MBTPS2 | c.1445C>T (p.Ser482Leu) | |
| X | g.21882541A>C | CA515423213 | MBTPS2 | c.1446A>C (p.Ser482=) | |
| X | g.21882541A>G | CA515423214 | MBTPS2 | c.1446A>G (p.Ser482=) | |
| X | g.21882541A>T | CA515423215 | MBTPS2 | c.1446A>T (p.Ser482=) | |
| X | g.21882542G>A | CA412570548 | MBTPS2 | c.1447G>A (p.Val483Met) | |
| X | g.21882542G>C | CA412570550 | MBTPS2 | c.1447G>C (p.Val483Leu) | |
| X | g.21882542G>T | CA412570552 | MBTPS2 | c.1447G>T (p.Val483Leu) | |
| X | g.21882543T>A | CA412570554 | MBTPS2 | c.1448T>A (p.Val483Glu) | |
| X | g.21882543T>C | CA412570556 | MBTPS2 | c.1448T>C (p.Val483Ala) | |
| X | g.21882543T>G | CA412570555 | MBTPS2 | c.1448T>G (p.Val483Gly) | |
| X | g.21882544G>A | CA515423216 | MBTPS2 | c.1449G>A (p.Val483=) | |
| X | g.21882544G>C | CA515423218 | MBTPS2 | c.1449G>C (p.Val483=) | |
| X | g.21882544G>T | CA515423217 | MBTPS2 | c.1449G>T (p.Val483=) | |
| X | g.21882545A>C | CA412570558 | MBTPS2 | c.1450A>C (p.Ile484Leu) | |
| X | g.21882545A>G | CA412570559 | MBTPS2 | c.1450A>G (p.Ile484Val) | |
| X | g.21882545A>T | CA412570561 | MBTPS2 | c.1450A>T (p.Ile484Phe) | |
| X | g.21882546T>A | CA412570563 | MBTPS2 | c.1451T>A (p.Ile484Asn) | |
| X | g.21882546T>C | CA327504814 | MBTPS2 | c.1451T>C (p.Ile484Thr) | dbSNP |
| X | g.21882546T>G | CA412570565 | MBTPS2 | c.1451T>G (p.Ile484Ser) | |
| X | g.21882546T= | CA2419093295 | MBTPS2 | c.1451T= (p.Ile484=) | |
| X | g.21882547T>A | CA515423219 | MBTPS2 | c.1452T>A (p.Ile484=) | |
| X | g.21882547T>C | CA515423220 | MBTPS2 | c.1452T>C (p.Ile484=) | |
| X | g.21882547T>G | CA412570572 | MBTPS2 | c.1452T>G (p.Ile484Met) | ClinVar gnomAD v4 |
| X | g.21882548G>A | CA412570575 | MBTPS2 | c.1453G>A (p.Gly485Arg) | |
| X | g.21882548G>C | CA412570576 | MBTPS2 | c.1453G>C (p.Gly485Arg) | |
| X | g.21882548G>T | CA412570577 | MBTPS2 | c.1453G>T (p.Gly485Ter) | |
| X | g.21882549G>A | CA412570580 | MBTPS2 | c.1454G>A (p.Gly485Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21882549G>C | CA412570581 | MBTPS2 | c.1454G>C (p.Gly485Ala) | |
| X | g.21882549G= | CA2419093296 | MBTPS2 | c.1454G= (p.Gly485=) | |
| X | g.21882549G>T | CA412570583 | MBTPS2 | c.1454G>T (p.Gly485Val) | |
| X | g.21882550A>C | CA515423221 | MBTPS2 | c.1455A>C (p.Gly485=) | |
| X | g.21882550A>G | CA515423222 | MBTPS2 | c.1455A>G (p.Gly485=) | |
| X | g.21882550A>T | CA515423223 | MBTPS2 | c.1455A>T (p.Gly485=) | |
| X | g.21882551G>A | CA412570585 | MBTPS2 | c.1456G>A (p.Asp486Asn) | |
| X | g.21882551G>C | CA412570588 | MBTPS2 | c.1456G>C (p.Asp486His) | dbSNP |
| X | g.21882551G= | CA2419093297 | MBTPS2 | c.1456G= (p.Asp486=) | |
| X | g.21882551G>T | CA412570586 | MBTPS2 | c.1456G>T (p.Asp486Tyr) | |
| X | g.21882552A>C | CA412570590 | MBTPS2 | c.1457A>C (p.Asp486Ala) | |
| X | g.21882552A>G | CA412570591 | MBTPS2 | c.1457A>G (p.Asp486Gly) | ClinVar dbSNP |
| X | g.21882552A>T | CA412570592 | MBTPS2 | c.1457A>T (p.Asp486Val) | |
| X | g.21882553C>A | CA412570593 | MBTPS2 | c.1458C>A (p.Asp486Glu) | |
| X | g.21882553C>G | CA412570594 | MBTPS2 | c.1458C>G (p.Asp486Glu) | |
| X | g.21882553C>T | CA515423224 | MBTPS2 | c.1458C>T (p.Asp486=) | |
| X | g.21882554A>C | CA412570595 | MBTPS2 | c.1459A>C (p.Asn487His) | |
| X | g.21882554A>G | CA412570596 | MBTPS2 | c.1459A>G (p.Asn487Asp) | gnomAD v4 |
| X | g.21882554A>T | CA412570597 | MBTPS2 | c.1459A>T (p.Asn487Tyr) | |
| X | g.21882555A>C | CA412570598 | MBTPS2 | c.1460A>C (p.Asn487Thr) | |
| X | g.21882555A>G | CA412570599 | MBTPS2 | c.1460A>G (p.Asn487Ser) | gnomAD v4 |
| X | g.21882555A>T | CA412570600 | MBTPS2 | c.1460A>T (p.Asn487Ile) | |
| X | g.21882556T>A | CA412570602 | MBTPS2 | c.1461T>A (p.Asn487Lys) | |
| X | g.21882556T>C | CA10367688 | MBTPS2 | c.1461T>C (p.Asn487=) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.21882556T>G | CA412570601 | MBTPS2 | c.1461T>G (p.Asn487Lys) | |
| X | g.21882556T= | CA2419093298 | MBTPS2 | c.1461T= (p.Asn487=) | |
| X | g.21882557G>A | CA412570603 | MBTPS2 | c.1462G>A (p.Asp488Asn) | |
| X | g.21882557G>C | CA412570605 | MBTPS2 | c.1462G>C (p.Asp488His) | |
| X | g.21882557G>T | CA412570604 | MBTPS2 | c.1462G>T (p.Asp488Tyr) | |
| X | g.21882558A>C | CA412570606 | MBTPS2 | c.1463A>C (p.Asp488Ala) | |
| X | g.21882558A>G | CA412570607 | MBTPS2 | c.1463A>G (p.Asp488Gly) | |
| X | g.21882558A>T | CA412570608 | MBTPS2 | c.1463A>T (p.Asp488Val) | gnomAD v4 |
| X | g.21882559T>A | CA412570609 | MBTPS2 | c.1464T>A (p.Asp488Glu) | |
| X | g.21882559T>C | CA515423225 | MBTPS2 | c.1464T>C (p.Asp488=) | |
| X | g.21882559T>G | CA412570610 | MBTPS2 | c.1464T>G (p.Asp488Glu) | |
| X | g.21882560G>A | CA412570613 | MBTPS2 | c.1465G>A (p.Val489Ile) | |
| X | g.21882560G>C | CA412570612 | MBTPS2 | c.1465G>C (p.Val489Leu) | |
| X | g.21882560G>T | CA412570611 | MBTPS2 | c.1465G>T (p.Val489Phe) | |
| X | g.21882561T>A | CA412570614 | MBTPS2 | c.1466T>A (p.Val489Asp) | |
| X | g.21882561T>C | CA412570615 | MBTPS2 | c.1466T>C (p.Val489Ala) | |
| X | g.21882561T>G | CA412570616 | MBTPS2 | c.1466T>G (p.Val489Gly) | |
| X | g.21882562C>A | CA515423226 | MBTPS2 | c.1467C>A (p.Val489=) | |
| X | g.21882562C>G | CA515423227 | MBTPS2 | c.1467C>G (p.Val489=) | |
| X | g.21882562C>T | CA515423228 | MBTPS2 | c.1467C>T (p.Val489=) | |
| X | g.21882563A= | CA2419093299 | MBTPS2 | c.1468A= (p.Lys490=) | |
| X | g.21882563A>C | CA412570617 | MBTPS2 | c.1468A>C (p.Lys490Gln) | |
| X | g.21882563A>G | CA223234 | MBTPS2 | c.1468A>G (p.Lys490Glu) | ClinVar dbSNP |
| X | g.21882563A>T | CA412570618 | MBTPS2 | c.1468A>T (p.Lys490Ter) | |
| X | g.21882564A= | CA2419093300 | MBTPS2 | c.1469A= (p.Lys490=) | |
| X | g.21882564A>C | CA412570621 | MBTPS2 | c.1469A>C (p.Lys490Thr) | |
| X | g.21882564A>G | CA412570619 | MBTPS2 | c.1469A>G (p.Lys490Arg) | dbSNP |
| X | g.21882564A>T | CA412570620 | MBTPS2 | c.1469A>T (p.Lys490Ile) | |
| X | g.21882565A>C | CA412570622 | MBTPS2 | c.1470A>C (p.Lys490Asn) | |
| X | g.21882565A>G | CA515423229 | MBTPS2 | c.1470A>G (p.Lys490=) | |
| X | g.21882565A>T | CA412570623 | MBTPS2 | c.1470A>T (p.Lys490Asn) | |
| X | g.21882566G>A | CA412570624 | MBTPS2 | c.1471G>A (p.Asp491Asn) | |
| X | g.21882566G>C | CA412570625 | MBTPS2 | c.1471G>C (p.Asp491His) | |
| X | g.21882566G>T | CA412570626 | MBTPS2 | c.1471G>T (p.Asp491Tyr) | |
| X | g.21882567A>C | CA412570627 | MBTPS2 | c.1472A>C (p.Asp491Ala) | |
| X | g.21882567A>G | CA412570628 | MBTPS2 | c.1472A>G (p.Asp491Gly) | |
| X | g.21882567A>T | CA412570629 | MBTPS2 | c.1472A>T (p.Asp491Val) | |
| X | g.21882568T>A | CA412570630 | MBTPS2 | c.1473T>A (p.Asp491Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21882568T>C | CA515423230 | MBTPS2 | c.1473T>C (p.Asp491=) | |
| X | g.21882568T>G | CA412570631 | MBTPS2 | c.1473T>G (p.Asp491Glu) | |
| X | g.21882568T= | CA2419093301 | MBTPS2 | c.1473T= (p.Asp491=) | |
| X | g.21882569C>A | CA412570632 | MBTPS2 | c.1474C>A (p.Leu492Ile) | |
| X | g.21882569C>G | CA412570633 | MBTPS2 | c.1474C>G (p.Leu492Val) | |
| X | g.21882569C>T | CA515423231 | MBTPS2 | c.1474C>T (p.Leu492=) | |
| X | g.21882570T>A | CA412570634 | MBTPS2 | c.1475T>A (p.Leu492Gln) | |
| X | g.21882570T>C | CA412570636 | MBTPS2 | c.1475T>C (p.Leu492Pro) | |
| X | g.21882570T>G | CA412570635 | MBTPS2 | c.1475T>G (p.Leu492Arg) | |
| X | g.21882571A>C | CA515423232 | MBTPS2 | c.1476A>C (p.Leu492=) | |
| X | g.21882571A>G | CA515423233 | MBTPS2 | c.1476A>G (p.Leu492=) | |
| X | g.21882571A>T | CA515423234 | MBTPS2 | c.1476A>T (p.Leu492=) | |
| X | g.21882572A>C | CA412570637 | MBTPS2 | c.1477A>C (p.Ile493Leu) | gnomAD v4 |
| X | g.21882572A>G | CA412570638 | MBTPS2 | c.1477A>G (p.Ile493Val) | |
| X | g.21882572A>T | CA412570639 | MBTPS2 | c.1477A>T (p.Ile493Leu) | |
| X | g.21882573T>A | CA412570640 | MBTPS2 | c.1478T>A (p.Ile493Lys) | |
| X | g.21882573T>C | CA412570641 | MBTPS2 | c.1478T>C (p.Ile493Thr) | |
| X | g.21882573T>G | CA412570642 | MBTPS2 | c.1478T>G (p.Ile493Arg) | |
| X | g.21882574A>C | CA515423236 | MBTPS2 | c.1479A>C (p.Ile493=) | |
| X | g.21882574A>G | CA412570643 | MBTPS2 | c.1479A>G (p.Ile493Met) | |
| X | g.21882574A>T | CA515423235 | MBTPS2 | c.1479A>T (p.Ile493=) | |
| X | g.21882575G>A | CA412570644 | MBTPS2 | c.1480G>A (p.Gly494Arg) | |
| X | g.21882575G>C | CA412570645 | MBTPS2 | c.1480G>C (p.Gly494Arg) | dbSNP |
| X | g.21882575G= | CA2419093302 | MBTPS2 | c.1480G= (p.Gly494=) | |
| X | g.21882575G>T | CA412570646 | MBTPS2 | c.1480G>T (p.Gly494Trp) | |
| X | g.21882576G>A | CA412570648 | MBTPS2 | c.1481G>A (p.Gly494Glu) | |
| X | g.21882576G>C | CA412570651 | MBTPS2 | c.1481G>C (p.Gly494Ala) | |
| X | g.21882576G>T | CA412570652 | MBTPS2 | c.1481G>T (p.Gly494Val) | |
| X | g.21882577G>A | CA515423237 | MBTPS2 | c.1482G>A (p.Gly494=) | |
| X | g.21882577G>C | CA515423238 | MBTPS2 | c.1482G>C (p.Gly494=) | |
| X | g.21882577G= | CA2419093303 | MBTPS2 | c.1482G= (p.Gly494=) | |
| X | g.21882577G>T | CA10367689 | MBTPS2 | c.1482G>T (p.Gly494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21882578T>A | CA412570655 | MBTPS2 | c.1483T>A (p.Phe495Ile) | |
| X | g.21882578T>C | CA412570656 | MBTPS2 | c.1483T>C (p.Phe495Leu) | |
| X | g.21882578T>G | CA412570657 | MBTPS2 | c.1483T>G (p.Phe495Val) | |
| X | g.21882579T>A | CA412570658 | MBTPS2 | c.1484T>A (p.Phe495Tyr) | |
| X | g.21882579T>C | CA412570659 | MBTPS2 | c.1484T>C (p.Phe495Ser) | |
| X | g.21882579T>G | CA412570660 | MBTPS2 | c.1484T>G (p.Phe495Cys) | |
| X | g.21882580T>A | CA412570662 | MBTPS2 | c.1485T>A (p.Phe495Leu) | |
| X | g.21882580T>C | CA515423239 | MBTPS2 | c.1485T>C (p.Phe495=) | |
| X | g.21882580T>G | CA412570663 | MBTPS2 | c.1485T>G (p.Phe495Leu) | |
| X | g.21882581T>A | CA412570664 | MBTPS2 | c.1486T>A (p.Phe496Ile) | |
| X | g.21882581T>C | CA412570666 | MBTPS2 | c.1486T>C (p.Phe496Leu) | |
| X | g.21882581T>G | CA412570667 | MBTPS2 | c.1486T>G (p.Phe496Val) | |
| X | g.21882582T>A | CA412570672 | MBTPS2 | c.1487T>A (p.Phe496Tyr) | |
| X | g.21882582T>C | CA412570671 | MBTPS2 | c.1487T>C (p.Phe496Ser) | |
| X | g.21882582T>G | CA412570669 | MBTPS2 | c.1487T>G (p.Phe496Cys) | |
| X | g.21882583C>A | CA412570674 | MBTPS2 | c.1488C>A (p.Phe496Leu) | |
| X | g.21882583C>G | CA412570676 | MBTPS2 | c.1488C>G (p.Phe496Leu) | |
| X | g.21882583C>T | CA515423240 | MBTPS2 | c.1488C>T (p.Phe496=) | |
| X | g.21882584A>C | CA412570677 | MBTPS2 | c.1489A>C (p.Ile497Leu) | |
| X | g.21882584A>G | CA412570678 | MBTPS2 | c.1489A>G (p.Ile497Val) | gnomAD v4 |
| X | g.21882584A>T | CA412570680 | MBTPS2 | c.1489A>T (p.Ile497Phe) | |
| X | g.21882585T>A | CA412570682 | MBTPS2 | c.1490T>A (p.Ile497Asn) | |
| X | g.21882585T>C | CA412570684 | MBTPS2 | c.1490T>C (p.Ile497Thr) | |
| X | g.21882585T>G | CA412570685 | MBTPS2 | c.1490T>G (p.Ile497Ser) | |
| X | g.21882586C>A | CA515423241 | MBTPS2 | c.1491C>A (p.Ile497=) | |
| X | g.21882586C>G | CA412570687 | MBTPS2 | c.1491C>G (p.Ile497Met) | |
| X | g.21882586C>T | CA515423242 | MBTPS2 | c.1491C>T (p.Ile497=) | COSMIC |
| X | g.21882587T>A | CA412570688 | MBTPS2 | c.1492T>A (p.Leu498Met) | |
| X | g.21882587T>C | CA515423243 | MBTPS2 | c.1492T>C (p.Leu498=) | gnomAD v4 |
| X | g.21882587T>G | CA412570690 | MBTPS2 | c.1492T>G (p.Leu498Val) | gnomAD v4 |
| X | g.21882588T>A | CA412570692 | MBTPS2 | c.1493T>A (p.Leu498Ter) | |
| X | g.21882588T>C | CA412570693 | MBTPS2 | c.1493T>C (p.Leu498Ser) | |
| X | g.21882588T>G | CA412570694 | MBTPS2 | c.1493T>G (p.Leu498Trp) | |
| X | g.21882589G>A | CA515423244 | MBTPS2 | c.1494G>A (p.Leu498=) | |
| X | g.21882589G>C | CA412570698 | MBTPS2 | c.1494G>C (p.Leu498Phe) | |
| X | g.21882589G>T | CA412570696 | MBTPS2 | c.1494G>T (p.Leu498Phe) | |
| X | g.21882590C>A | CA412570699 | MBTPS2 | c.1495C>A (p.Leu499Met) | |
| X | g.21882590C>G | CA412570701 | MBTPS2 | c.1495C>G (p.Leu499Val) | |
| X | g.21882590C>T | CA515423245 | MBTPS2 | c.1495C>T (p.Leu499=) | |
| X | g.21882591T>A | CA412570702 | MBTPS2 | c.1496T>A (p.Leu499Gln) | |
| X | g.21882591T>C | CA412570703 | MBTPS2 | c.1496T>C (p.Leu499Pro) | |
| X | g.21882591T>G | CA412570704 | MBTPS2 | c.1496T>G (p.Leu499Arg) | |
| X | g.21882592G>A | CA515423246 | MBTPS2 | c.1497G>A (p.Leu499=) | |
| X | g.21882592G>C | CA515423247 | MBTPS2 | c.1497G>C (p.Leu499=) | |
| X | g.21882592G>T | CA515423248 | MBTPS2 | c.1497G>T (p.Leu499=) | |
| X | g.21882593G>A | CA412570709 | MBTPS2 | c.1498G>A (p.Gly500Ser) | gnomAD v4 |
| X | g.21882593G>C | CA412570708 | MBTPS2 | c.1498G>C (p.Gly500Arg) | |
| X | g.21882593G>T | CA412570706 | MBTPS2 | c.1498G>T (p.Gly500Cys) | |
| X | g.21882594G>A | CA412570710 | MBTPS2 | c.1499G>A (p.Gly500Asp) | ClinVar dbSNP |
| X | g.21882594G>C | CA412570711 | MBTPS2 | c.1499G>C (p.Gly500Ala) | |
| X | g.21882594G>T | CA412570712 | MBTPS2 | c.1499G>T (p.Gly500Val) | |
| X | g.21882595T>A | CA515423249 | MBTPS2 | c.1500T>A (p.Gly500=) | |
| X | g.21882595T>C | CA515423251 | MBTPS2 | c.1500T>C (p.Gly500=) | |
| X | g.21882595T>G | CA515423250 | MBTPS2 | c.1500T>G (p.Gly500=) | |
| X | g.21882596G>A | CA412570714 | MBTPS2 | c.1501G>A (p.Gly501Ser) | |
| X | g.21882596G>C | CA412570715 | MBTPS2 | c.1501G>C (p.Gly501Arg) | |
| X | g.21882596G>T | CA412570717 | MBTPS2 | c.1501G>T (p.Gly501Cys) | |
| X | g.21882597G>A | CA412570718 | MBTPS2 | c.1502G>A (p.Gly501Asp) | |
| X | g.21882597G>C | CA412570721 | MBTPS2 | c.1502G>C (p.Gly501Ala) | |
| X | g.21882597G>T | CA412570720 | MBTPS2 | c.1502G>T (p.Gly501Val) | |
| X | g.21882598C>A | CA515423252 | MBTPS2 | c.1503C>A (p.Gly501=) | |
| X | g.21882598C>G | CA515423253 | MBTPS2 | c.1503C>G (p.Gly501=) | |
| X | g.21882598C>T | CA515423254 | MBTPS2 | c.1503C>T (p.Gly501=) | |
| X | g.21882599A>C | CA412570723 | MBTPS2 | c.1504A>C (p.Ser502Arg) | |
| X | g.21882599A>G | CA412570725 | MBTPS2 | c.1504A>G (p.Ser502Gly) | |
| X | g.21882599A>T | CA412570726 | MBTPS2 | c.1504A>T (p.Ser502Cys) | |
| X | g.21882600G>A | CA412570728 | MBTPS2 | c.1505G>A (p.Ser502Asn) | |
| X | g.21882600G>C | CA412570729 | MBTPS2 | c.1505G>C (p.Ser502Thr) | |
| X | g.21882600G>T | CA412570731 | MBTPS2 | c.1505G>T (p.Ser502Ile) | |
| X | g.21882601T>A | CA412570732 | MBTPS2 | c.1506T>A (p.Ser502Arg) | |
| X | g.21882601T>C | CA515423255 | MBTPS2 | c.1506T>C (p.Ser502=) | |
| X | g.21882601T>G | CA412570734 | MBTPS2 | c.1506T>G (p.Ser502Arg) | |
| X | g.21882602G>A | CA412570735 | MBTPS2 | c.1507G>A (p.Val503Ile) | |
| X | g.21882602G>C | CA412570737 | MBTPS2 | c.1507G>C (p.Val503Leu) | |
| X | g.21882602G>T | CA412570738 | MBTPS2 | c.1507G>T (p.Val503Leu) | |
| X | g.21882603T>A | CA412570741 | MBTPS2 | c.1508T>A (p.Val503Glu) | |
| X | g.21882603T>C | CA412570740 | MBTPS2 | c.1508T>C (p.Val503Ala) | |
| X | g.21882603T>G | CA412570739 | MBTPS2 | c.1508T>G (p.Val503Gly) | |
| X | g.21882604A>C | CA515423256 | MBTPS2 | c.1509A>C (p.Val503=) | |
| X | g.21882604A>G | CA515423257 | MBTPS2 | c.1509A>G (p.Val503=) | |
| X | g.21882604A>T | CA515423258 | MBTPS2 | c.1509A>T (p.Val503=) | |
| X | g.21882605C>A | CA412570742 | MBTPS2 | c.1510C>A (p.Leu504Ile) | COSMIC |
| X | g.21882605C>G | CA412570744 | MBTPS2 | c.1510C>G (p.Leu504Val) | |
| X | g.21882605C>T | CA412570746 | MBTPS2 | c.1510C>T (p.Leu504Phe) | |
| X | g.21882606T>A | CA412570748 | MBTPS2 | c.1511T>A (p.Leu504His) | |
| X | g.21882606T>C | CA412570749 | MBTPS2 | c.1511T>C (p.Leu504Pro) | |
| X | g.21882606T>G | CA412570750 | MBTPS2 | c.1511T>G (p.Leu504Arg) | |
| X | g.21882607T>A | CA515423259 | MBTPS2 | c.1512T>A (p.Leu504=) | |
| X | g.21882607T>C | CA515423260 | MBTPS2 | c.1512T>C (p.Leu504=) | |
| X | g.21882607T>G | CA515423261 | MBTPS2 | c.1512T>G (p.Leu504=) | |
| X | g.21882608T>A | CA412570752 | MBTPS2 | c.1513T>A (p.Leu505Met) | |
| X | g.21882608T>C | CA515423262 | MBTPS2 | c.1513T>C (p.Leu505=) | |
| X | g.21882608T>G | CA412570754 | MBTPS2 | c.1513T>G (p.Leu505Val) | |
| X | g.21882609T>A | CA412570755 | MBTPS2 | c.1514T>A (p.Leu505Ter) | |
| X | g.21882609T>C | CA412570757 | MBTPS2 | c.1514T>C (p.Leu505Ser) | |
| X | g.21882609T>G | CA412570758 | MBTPS2 | c.1514T>G (p.Leu505Trp) | |
| X | g.21882610G>A | CA515423263 | MBTPS2 | c.1515G>A (p.Leu505=) | |
| X | g.21882610G>C | CA412570760 | MBTPS2 | c.1515G>C (p.Leu505Phe) | ClinVar dbSNP |
| X | g.21882610G= | CA2419093304 | MBTPS2 | c.1515G= (p.Leu505=) | |
| X | g.21882610G>T | CA412570762 | MBTPS2 | c.1515G>T (p.Leu505Phe) | |
| X | g.21882611G>A | CA412570764 | MBTPS2 | c.1516G>A (p.Ala506Thr) | |
| X | g.21882611G>C | CA412570766 | MBTPS2 | c.1516G>C (p.Ala506Pro) | |
| X | g.21882611G>T | CA412570763 | MBTPS2 | c.1516G>T (p.Ala506Ser) | |
| X | g.21882612C>A | CA412570769 | MBTPS2 | c.1517C>A (p.Ala506Asp) | |
| X | g.21882612C>G | CA412570768 | MBTPS2 | c.1517C>G (p.Ala506Gly) | |
| X | g.21882612C>T | CA412570771 | MBTPS2 | c.1517C>T (p.Ala506Val) | |
| X | g.21882613T>A | CA515423264 | MBTPS2 | c.1518T>A (p.Ala506=) | |
| X | g.21882613T>C | CA10367690 | MBTPS2 | c.1518T>C (p.Ala506=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21882613T>G | CA515423265 | MBTPS2 | c.1518T>G (p.Ala506=) | |
| X | g.21882613T= | CA2419093305 | MBTPS2 | c.1518T= (p.Ala506=) | |
| X | g.21882614G>A | CA412570775 | MBTPS2 | c.1519G>A (p.Ala507Thr) | |
| X | g.21882614G>C | CA412570773 | MBTPS2 | c.1519G>C (p.Ala507Pro) | |
| X | g.21882614G>T | CA412570777 | MBTPS2 | c.1519G>T (p.Ala507Ser) | |
| X | g.21882615C>A | CA412570778 | MBTPS2 | c.1520C>A (p.Ala507Asp) | |
| X | g.21882615C= | CA2419093306 | MBTPS2 | c.1520C= (p.Ala507=) | |
| X | g.21882615C>G | CA412570781 | MBTPS2 | c.1520C>G (p.Ala507Gly) | |
| X | g.21882615C>T | CA412570780 | MBTPS2 | c.1520C>T (p.Ala507Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.21882616C>A | CA515423268 | MBTPS2 | c.1521C>A (p.Ala507=) | |
| X | g.21882616C>G | CA515423266 | MBTPS2 | c.1521C>G (p.Ala507=) | |
| X | g.21882616C>T | CA515423267 | MBTPS2 | c.1521C>T (p.Ala507=) | |
| X | g.21882617A>C | CA412570783 | MBTPS2 | c.1522A>C (p.Asn508His) | |
| X | g.21882617A>G | CA412570785 | MBTPS2 | c.1522A>G (p.Asn508Asp) | |
| X | g.21882617A>T | CA412570784 | MBTPS2 | c.1522A>T (p.Asn508Tyr) | |
| X | g.21882618A= | CA2419093307 | MBTPS2 | c.1523A= (p.Asn508=) | |
| X | g.21882618A>C | CA412570787 | MBTPS2 | c.1523A>C (p.Asn508Thr) | ClinVar |
| X | g.21882618A>G | CA128790 | MBTPS2 | c.1523A>G (p.Asn508Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.21882618A>T | CA16608810 | MBTPS2 | c.1523A>T (p.Asn508Ile) | ClinVar dbSNP |
| X | g.21882619T>A | CA412570790 | MBTPS2 | c.1524T>A (p.Asn508Lys) | |
| X | g.21882619T>C | CA515423269 | MBTPS2 | c.1524T>C (p.Asn508=) | gnomAD v4 |
| X | g.21882619T>G | CA412570791 | MBTPS2 | c.1524T>G (p.Asn508Lys) | |
| X | g.21882620G>A | CA10367691 | MBTPS2 | c.1525G>A (p.Val509Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21882620G>C | CA412570794 | MBTPS2 | c.1525G>C (p.Val509Leu) | |
| X | g.21882620G= | CA2419093308 | MBTPS2 | c.1525G= (p.Val509=) | |
| X | g.21882620G>T | CA412570795 | MBTPS2 | c.1525G>T (p.Val509Leu) | ClinVar dbSNP |
| X | g.21882621T>A | CA412570797 | MBTPS2 | c.1526T>A (p.Val509Glu) | |
| X | g.21882621T>C | CA412570798 | MBTPS2 | c.1526T>C (p.Val509Ala) | |
| X | g.21882621T>G | CA412570799 | MBTPS2 | c.1526T>G (p.Val509Gly) | |
| X | g.21882622G>A | CA515423272 | MBTPS2 | c.1527G>A (p.Val509=) | |
| X | g.21882622G>C | CA515423274 | MBTPS2 | c.1527G>C (p.Val509=) | gnomAD v4 |
| X | g.21882622G>T | CA515423273 | MBTPS2 | c.1527G>T (p.Val509=) | COSMIC |