20 | g.2417448C>A | CA408015343 | TGM6 | c.1553C>A (p.Ala518Asp)
| COSMIC |
20 | g.2417448C>G | CA408015344 | TGM6 | c.1553C>G (p.Ala518Gly)
| |
20 | g.2417448C>T | CA408015345 | TGM6 | c.1553C>T (p.Ala518Val)
| COSMIC |
20 | g.2417449C>A | CA509547621 | TGM6 | c.1554C>A (p.Ala518=)
| |
20 | g.2417449C>G | CA509547619 | TGM6 | c.1554C>G (p.Ala518=)
| |
20 | g.2417449C>T | CA509547620 | TGM6 | c.1554C>T (p.Ala518=)
| gnomAD v4 |
20 | g.2417450A>C | CA408015346 | TGM6 | c.1555A>C (p.Asn519His)
| |
20 | g.2417450A>G | CA408015348 | TGM6 | c.1555A>G (p.Asn519Asp)
| |
20 | g.2417450A>T | CA408015347 | TGM6 | c.1555A>T (p.Asn519Tyr)
| |
20 | g.2417451A= | CA2346098446 | TGM6 | c.1556A= (p.Asn519=)
| |
20 | g.2417451A>C | CA9732127 | TGM6 | c.1556A>C (p.Asn519Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417451A>G | CA9732128 | TGM6 | c.1556A>G (p.Asn519Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417451A>T | CA9732129 | TGM6 | c.1556A>T (p.Asn519Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417452C>A | CA408015349 | TGM6 | c.1557C>A (p.Asn519Lys)
| |
20 | g.2417452C= | CA2346098447 | TGM6 | c.1557C= (p.Asn519=)
| |
20 | g.2417452C>G | CA408015350 | TGM6 | c.1557C>G (p.Asn519Lys)
| |
20 | g.2417452C>T | CA509547623 | TGM6 | c.1557C>T (p.Asn519=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417453C>A | CA408015351 | TGM6 | c.1558C>A (p.Leu520Ile)
| |
20 | g.2417453C= | CA2346098448 | TGM6 | c.1558C= (p.Leu520=)
| |
20 | g.2417453C>G | CA408015352 | TGM6 | c.1558C>G (p.Leu520Val)
| dbSNP gnomAD v4 |
20 | g.2417453C>T | CA408015353 | TGM6 | c.1558C>T (p.Leu520Phe)
| dbSNP |
20 | g.2417454T>A | CA408015356 | TGM6 | c.1559T>A (p.Leu520His)
| |
20 | g.2417454T>C | CA408015355 | TGM6 | c.1559T>C (p.Leu520Pro)
| |
20 | g.2417454T>G | CA408015354 | TGM6 | c.1559T>G (p.Leu520Arg)
| |
20 | g.2417455C>A | CA509547629 | TGM6 | c.1560C>A (p.Leu520=)
| |
20 | g.2417455C>G | CA509547627 | TGM6 | c.1560C>G (p.Leu520=)
| |
20 | g.2417455C>T | CA509547628 | TGM6 | c.1560C>T (p.Leu520=)
| |
20 | g.2417456A= | CA2346098449 | TGM6 | c.1561A= (p.Thr521=)
| |
20 | g.2417456A>C | CA408015357 | TGM6 | c.1561A>C (p.Thr521Pro)
| dbSNP |
20 | g.2417456A>G | CA408015358 | TGM6 | c.1561A>G (p.Thr521Ala)
| |
20 | g.2417456A>T | CA408015359 | TGM6 | c.1561A>T (p.Thr521Ser)
| |
20 | g.2417457C>A | CA408015360 | TGM6 | c.1562C>A (p.Thr521Asn)
| |
20 | g.2417457C>G | CA408015361 | TGM6 | c.1562C>G (p.Thr521Ser)
| |
20 | g.2417457C>T | CA408015362 | TGM6 | c.1562C>T (p.Thr521Ile)
| gnomAD v4 |
20 | g.2417458C>A | CA509547633 | TGM6 | c.1563C>A (p.Thr521=)
| |
20 | g.2417458C>G | CA509547634 | TGM6 | c.1563C>G (p.Thr521=)
| |
20 | g.2417458C>T | CA509547635 | TGM6 | c.1563C>T (p.Thr521=)
| |
20 | g.2417459T>A | CA408015363 | TGM6 | c.1564T>A (p.Ser522Thr)
| |
20 | g.2417459T>C | CA408015365 | TGM6 | c.1564T>C (p.Ser522Pro)
| |
20 | g.2417459T>G | CA408015364 | TGM6 | c.1564T>G (p.Ser522Ala)
| |
20 | g.2417460C>A | CA408015366 | TGM6 | c.1565C>A (p.Ser522Tyr)
| gnomAD v4 |
20 | g.2417460C= | CA2346098450 | TGM6 | c.1565C= (p.Ser522=)
| |
20 | g.2417460C>G | CA408015367 | TGM6 | c.1565C>G (p.Ser522Cys)
| |
20 | g.2417460C>T | CA9732130 | TGM6 | c.1565C>T (p.Ser522Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.2417461C>A | CA509547636 | TGM6 | c.1566C>A (p.Ser522=)
| gnomAD v4 |
20 | g.2417461C= | CA2346098451 | TGM6 | c.1566C= (p.Ser522=)
| |
20 | g.2417461C>G | CA509547637 | TGM6 | c.1566C>G (p.Ser522=)
| |
20 | g.2417461C>T | CA509547638 | TGM6 | c.1566C>T (p.Ser522=)
| dbSNP gnomAD v2 |
20 | g.2417462C>A | CA509547639 | TGM6 | c.1567C>A (p.Arg523=)
| |
20 | g.2417462C= | CA2346098452 | TGM6 | c.1567C= (p.Arg523=)
| |
20 | g.2417462C>G | CA408015368 | TGM6 | c.1567C>G (p.Arg523Gly)
| |
20 | g.2417462C>T | CA408015369 | TGM6 | c.1567C>T (p.Arg523Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.2417463G>A | CA9732131 | TGM6 | c.1568G>A (p.Arg523Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.2417463G>C | CA9732132 | TGM6 | c.1568G>C (p.Arg523Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417463G= | CA2346098453 | TGM6 | c.1568G= (p.Arg523=)
| |
20 | g.2417463G>T | CA408015370 | TGM6 | c.1568G>T (p.Arg523Leu)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417463_2417464insAA | CA2514180646 | TGM6 | c.1568_1569insAA (p.Ala524ArgfsTer5)
| |
20 | g.2417464G>A | CA509547641 | TGM6 | c.1569G>A (p.Arg523=)
| |
20 | g.2417464G>C | CA509547642 | TGM6 | c.1569G>C (p.Arg523=)
| |
20 | g.2417464G>T | CA509547643 | TGM6 | c.1569G>T (p.Arg523=)
| gnomAD v4 |
20 | g.2417465G>A | CA9732133 | TGM6 | c.1570G>A (p.Ala524Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417465G>C | CA408015371 | TGM6 | c.1570G>C (p.Ala524Pro)
| |
20 | g.2417465G= | CA2346098455 | TGM6 | c.1570G= (p.Ala524=)
| |
20 | g.2417465G>T | CA408015372 | TGM6 | c.1570G>T (p.Ala524Ser)
| gnomAD v4 |
20 | g.2417465_2417466del | CA2539243394 | TGM6 | c.1570_1571del (p.Ala524ProfsTer25)
| |
20 | g.2417465_2417466delinsGC | CA2346098454 | TGM6 | c.1570_1571delinsGC (p.Ala524=)
| |
20 | g.2417466C>A | CA408015373 | TGM6 | c.1571C>A (p.Ala524Asp)
| |
20 | g.2417466C= | CA2346098456 | TGM6 | c.1571C= (p.Ala524=)
| |
20 | g.2417466C>G | CA408015374 | TGM6 | c.1571C>G (p.Ala524Gly)
| |
20 | g.2417466C>T | CA9732134 | TGM6 | c.1571C>T (p.Ala524Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417468del | CA634327255 | TGM6 | c.1573del (p.Gln525SerfsTer3)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417467C>A | CA509547648 | TGM6 | c.1572C>A (p.Ala524=)
| |
20 | g.2417467C>G | CA509547649 | TGM6 | c.1572C>G (p.Ala524=)
| |
20 | g.2417467C>T | CA509547650 | TGM6 | c.1572C>T (p.Ala524=)
| |
20 | g.2417468C>A | CA408015375 | TGM6 | c.1573C>A (p.Gln525Lys)
| gnomAD v4 |
20 | g.2417468C>G | CA408015376 | TGM6 | c.1573C>G (p.Gln525Glu)
| |
20 | g.2417468C>T | CA408015377 | TGM6 | c.1573C>T (p.Gln525Ter)
| |
20 | g.2417469A>C | CA408015378 | TGM6 | c.1574A>C (p.Gln525Pro)
| |
20 | g.2417469A>G | CA408015379 | TGM6 | c.1574A>G (p.Gln525Arg)
| |
20 | g.2417469A>T | CA408015380 | TGM6 | c.1574A>T (p.Gln525Leu)
| gnomAD v4 |
20 | g.2417470G>A | CA509547652 | TGM6 | c.1575G>A (p.Gln525=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417470G>C | CA408015381 | TGM6 | c.1575G>C (p.Gln525His)
| |
20 | g.2417470G= | CA2346098457 | TGM6 | c.1575G= (p.Gln525=)
| |
20 | g.2417470G>T | CA408015382 | TGM6 | c.1575G>T (p.Gln525His)
| gnomAD v4 |
20 | g.2417471C>A | CA509547653 | TGM6 | c.1576C>A (p.Arg526=)
| gnomAD v4 |
20 | g.2417471C= | CA2346098458 | TGM6 | c.1576C= (p.Arg526=)
| |
20 | g.2417471C>G | CA408015383 | TGM6 | c.1576C>G (p.Arg526Gly)
| ClinVar gnomAD v4 |
20 | g.2417471C>T | CA408015384 | TGM6 | c.1576C>T (p.Arg526Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.2417472G>A | CA9732135 | TGM6 | c.1577G>A (p.Arg526Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417472G>C | CA408015385 | TGM6 | c.1577G>C (p.Arg526Pro)
| dbSNP |
20 | g.2417472G= | CA2346098459 | TGM6 | c.1577G= (p.Arg526=)
| |
20 | g.2417472G>T | CA408015386 | TGM6 | c.1577G>T (p.Arg526Leu)
| gnomAD v4 |
20 | g.2417473_2417476del | CA2506432766 | TGM6 | c.1578_1581del (p.Val527GlyfsTer4)
| |
20 | g.2417473G>A | CA509547657 | TGM6 | c.1578G>A (p.Arg526=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417473G>C | CA509547658 | TGM6 | c.1578G>C (p.Arg526=)
| |
20 | g.2417473G= | CA2346098460 | TGM6 | c.1578G= (p.Arg526=)
| |
20 | g.2417473G>T | CA509547660 | TGM6 | c.1578G>T (p.Arg526=)
| dbSNP |
20 | g.2417474G>A | CA408015387 | TGM6 | c.1579G>A (p.Val527Met)
| dbSNP gnomAD v4 |
20 | g.2417474G>C | CA9732136 | TGM6 | c.1579G>C (p.Val527Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417474G= | CA2346098461 | TGM6 | c.1579G= (p.Val527=)
| |
20 | g.2417474G>T | CA408015388 | TGM6 | c.1579G>T (p.Val527Leu)
| gnomAD v4 |
20 | g.2417475T>A | CA9732137 | TGM6 | c.1580T>A (p.Val527Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417475T>C | CA408015389 | TGM6 | c.1580T>C (p.Val527Ala)
| |
20 | g.2417475T>G | CA408015390 | TGM6 | c.1580T>G (p.Val527Gly)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417475T= | CA2346098462 | TGM6 | c.1580T= (p.Val527=)
| |
20 | g.2417476G>A | CA509547662 | TGM6 | c.1581G>A (p.Val527=)
| |
20 | g.2417476G>C | CA509547665 | TGM6 | c.1581G>C (p.Val527=)
| |
20 | g.2417476G>T | CA509547664 | TGM6 | c.1581G>T (p.Val527=)
| gnomAD v4 |
20 | g.2417477A>C | CA509547666 | TGM6 | c.1582A>C (p.Arg528=)
| |
20 | g.2417477A>G | CA408015391 | TGM6 | c.1582A>G (p.Arg528Gly)
| |
20 | g.2417477A>T | CA408015392 | TGM6 | c.1582A>T (p.Arg528Trp)
| |
20 | g.2417478G>A | CA9732138 | TGM6 | c.1583G>A (p.Arg528Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417478G>C | CA408015393 | TGM6 | c.1583G>C (p.Arg528Thr)
| |
20 | g.2417478G= | CA2346098463 | TGM6 | c.1583G= (p.Arg528=)
| |
20 | g.2417478G>T | CA408015394 | TGM6 | c.1583G>T (p.Arg528Met)
| gnomAD v4 |
20 | g.2417478_2417479insTCCA | CA2542026913 | TGM6 | c.1583_1584insTCCA (p.Arg528SerfsTer23)
| |
20 | g.2417479G>A | CA509547668 | TGM6 | c.1584G>A (p.Arg528=)
| gnomAD v4 |
20 | g.2417479G>C | CA408015395 | TGM6 | c.1584G>C (p.Arg528Ser)
| |
20 | g.2417479G>T | CA408015396 | TGM6 | c.1584G>T (p.Arg528Ser)
| gnomAD v4 COSMIC |
20 | g.2417480G>A | CA408015398 | TGM6 | c.1585G>A (p.Val529Ile)
| |
20 | g.2417480G>C | CA408015399 | TGM6 | c.1585G>C (p.Val529Leu)
| |
20 | g.2417480G= | CA2346098464 | TGM6 | c.1585G= (p.Val529=)
| |
20 | g.2417480G>T | CA408015397 | TGM6 | c.1585G>T (p.Val529Phe)
| dbSNP gnomAD v4 |
20 | g.2417481T>A | CA408015402 | TGM6 | c.1586T>A (p.Val529Asp)
| dbSNP |
20 | g.2417481T>C | CA408015400 | TGM6 | c.1586T>C (p.Val529Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417481T>G | CA408015401 | TGM6 | c.1586T>G (p.Val529Gly)
| |
20 | g.2417481T= | CA2346098465 | TGM6 | c.1586T= (p.Val529=)
| |
20 | g.2417482C>A | CA509547672 | TGM6 | c.1587C>A (p.Val529=)
| |
20 | g.2417482C>G | CA509547673 | TGM6 | c.1587C>G (p.Val529=)
| COSMIC |
20 | g.2417482C>T | CA509547674 | TGM6 | c.1587C>T (p.Val529=)
| |
20 | g.2417483A>C | CA408015403 | TGM6 | c.1588A>C (p.Asn530His)
| |
20 | g.2417483A>G | CA408015404 | TGM6 | c.1588A>G (p.Asn530Asp)
| |
20 | g.2417483A>T | CA408015405 | TGM6 | c.1588A>T (p.Asn530Tyr)
| |
20 | g.2417483_2417487del | CA2651627915 | TGM6 | c.1588_1592del (p.Asn530GlufsTer18)
| gnomAD v4 |
20 | g.2417484A= | CA2346098466 | TGM6 | c.1589A= (p.Asn530=)
| |
20 | g.2417484A>C | CA408015406 | TGM6 | c.1589A>C (p.Asn530Thr)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417484A>G | CA408015407 | TGM6 | c.1589A>G (p.Asn530Ser)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417484A>T | CA408015408 | TGM6 | c.1589A>T (p.Asn530Ile)
| |
20 | g.2417485C>A | CA408015409 | TGM6 | c.1590C>A (p.Asn530Lys)
| |
20 | g.2417485C= | CA2346098467 | TGM6 | c.1590C= (p.Asn530=)
| |
20 | g.2417485C>G | CA408015410 | TGM6 | c.1590C>G (p.Asn530Lys)
| |
20 | g.2417485C>T | CA9732139 | TGM6 | c.1590C>T (p.Asn530=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417486C>A | CA408015411 | TGM6 | c.1591C>A (p.Leu531Met)
| |
20 | g.2417486C= | CA2346098468 | TGM6 | c.1591C= (p.Leu531=)
| |
20 | g.2417486C>G | CA408015412 | TGM6 | c.1591C>G (p.Leu531Val)
| |
20 | g.2417486C>T | CA509547675 | TGM6 | c.1591C>T (p.Leu531=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417487T>A | CA408015415 | TGM6 | c.1592T>A (p.Leu531Gln)
| ClinVar |
20 | g.2417487T>C | CA408015413 | TGM6 | c.1592T>C (p.Leu531Pro)
| |
20 | g.2417487T>G | CA408015414 | TGM6 | c.1592T>G (p.Leu531Arg)
| |
20 | g.2417488G>A | CA509547676 | TGM6 | c.1593G>A (p.Leu531=)
| gnomAD v4 |
20 | g.2417488G>C | CA509547677 | TGM6 | c.1593G>C (p.Leu531=)
| |
20 | g.2417488G= | CA2346098469 | TGM6 | c.1593G= (p.Leu531=)
| |
20 | g.2417488G>T | CA509547678 | TGM6 | c.1593G>T (p.Leu531=)
| ClinVar dbSNP gnomAD v4 |
20 | g.2417489A>C | CA408015416 | TGM6 | c.1594A>C (p.Ser532Arg)
| COSMIC |
20 | g.2417489A>G | CA408015417 | TGM6 | c.1594A>G (p.Ser532Gly)
| |
20 | g.2417489A>T | CA408015418 | TGM6 | c.1594A>T (p.Ser532Cys)
| |
20 | g.2417490G>A | CA9732140 | TGM6 | c.1595G>A (p.Ser532Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417490G>C | CA408015419 | TGM6 | c.1595G>C (p.Ser532Thr)
| |
20 | g.2417490G= | CA2346098470 | TGM6 | c.1595G= (p.Ser532=)
| |
20 | g.2417490G>T | CA408015420 | TGM6 | c.1595G>T (p.Ser532Ile)
| gnomAD v4 |
20 | g.2417491C>A | CA408015421 | TGM6 | c.1596C>A (p.Ser532Arg)
| gnomAD v4 |
20 | g.2417491C= | CA2346098471 | TGM6 | c.1596C= (p.Ser532=)
| |
20 | g.2417491C>G | CA408015422 | TGM6 | c.1596C>G (p.Ser532Arg)
| |
20 | g.2417491C>T | CA9732141 | TGM6 | c.1596C>T (p.Ser532=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.2417492G>A | CA9732142 | TGM6 | c.1597G>A (p.Gly533Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417492G>C | CA408015423 | TGM6 | c.1597G>C (p.Gly533Arg)
| |
20 | g.2417492G= | CA2346098472 | TGM6 | c.1597G= (p.Gly533=)
| |
20 | g.2417492G>T | CA408015424 | TGM6 | c.1597G>T (p.Gly533Cys)
| gnomAD v4 COSMIC |
20 | g.2417493G>A | CA310850380 | TGM6 | c.1598G>A (p.Gly533Asp)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417493G>C | CA408015426 | TGM6 | c.1598G>C (p.Gly533Ala)
| |
20 | g.2417493G= | CA2346098473 | TGM6 | c.1598G= (p.Gly533=)
| |
20 | g.2417493G>T | CA408015425 | TGM6 | c.1598G>T (p.Gly533Val)
| gnomAD v4 |
20 | g.2417494T>A | CA509547679 | TGM6 | c.1599T>A (p.Gly533=)
| |
20 | g.2417494T>C | CA509547680 | TGM6 | c.1599T>C (p.Gly533=)
| |
20 | g.2417494T>G | CA509547681 | TGM6 | c.1599T>G (p.Gly533=)
| |
20 | g.2417495G>A | CA9732143 | TGM6 | c.1600G>A (p.Ala534Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417495G>C | CA408015427 | TGM6 | c.1600G>C (p.Ala534Pro)
| |
20 | g.2417495G= | CA2346098474 | TGM6 | c.1600G= (p.Ala534=)
| |
20 | g.2417495G>T | CA408015428 | TGM6 | c.1600G>T (p.Ala534Ser)
| gnomAD v4 |
20 | g.2417496C>A | CA408015429 | TGM6 | c.1601C>A (p.Ala534Asp)
| |
20 | g.2417496C>G | CA408015430 | TGM6 | c.1601C>G (p.Ala534Gly)
| |
20 | g.2417496C>T | CA408015431 | TGM6 | c.1601C>T (p.Ala534Val)
| gnomAD v4 |
20 | g.2417497C>A | CA509547684 | TGM6 | c.1602C>A (p.Ala534=)
| |
20 | g.2417497C>G | CA509547683 | TGM6 | c.1602C>G (p.Ala534=)
| |
20 | g.2417497C>T | CA509547682 | TGM6 | c.1602C>T (p.Ala534=)
| |
20 | g.2417498A= | CA2346098475 | TGM6 | c.1603A= (p.Thr535=)
| |
20 | g.2417498A>C | CA408015432 | TGM6 | c.1603A>C (p.Thr535Pro)
| gnomAD v4 |
20 | g.2417498A>G | CA9732144 | TGM6 | c.1603A>G (p.Thr535Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417498A>T | CA408015433 | TGM6 | c.1603A>T (p.Thr535Ser)
| |
20 | g.2417499C>A | CA408015434 | TGM6 | c.1604C>A (p.Thr535Asn)
| |
20 | g.2417499C= | CA2346098476 | TGM6 | c.1604C= (p.Thr535=)
| |
20 | g.2417499C>G | CA408015435 | TGM6 | c.1604C>G (p.Thr535Ser)
| |
20 | g.2417499C>T | CA9732145 | TGM6 | c.1604C>T (p.Thr535Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417500C>A | CA509547687 | TGM6 | c.1605C>A (p.Thr535=)
| |
20 | g.2417500C>G | CA509547686 | TGM6 | c.1605C>G (p.Thr535=)
| |
20 | g.2417500C>T | CA509547685 | TGM6 | c.1605C>T (p.Thr535=)
| gnomAD v4 |
20 | g.2417501A>C | CA408015437 | TGM6 | c.1606A>C (p.Ile536Leu)
| |
20 | g.2417501A>G | CA408015438 | TGM6 | c.1606A>G (p.Ile536Val)
| |
20 | g.2417501A>T | CA408015436 | TGM6 | c.1606A>T (p.Ile536Phe)
| |
20 | g.2417502T>A | CA408015439 | TGM6 | c.1607T>A (p.Ile536Asn)
| |
20 | g.2417502T>C | CA408015440 | TGM6 | c.1607T>C (p.Ile536Thr)
| |
20 | g.2417502T>G | CA408015441 | TGM6 | c.1607T>G (p.Ile536Ser)
| |
20 | g.2417502_2417504delinsTCC | CA2346098477 | TGM6 | c.1607_1609delinsTCC (p.Ile536=)
| |
20 | g.2417503C>A | CA509547688 | TGM6 | c.1608C>A (p.Ile536=)
| |
20 | g.2417503C>G | CA408015442 | TGM6 | c.1608C>G (p.Ile536Met)
| |
20 | g.2417503C>T | CA509547689 | TGM6 | c.1608C>T (p.Ile536=)
| |
20 | g.2417503_2417504del | CA634327256 | TGM6 | c.1608_1609del (p.Thr539ProfsTer10)
| dbSNP gnomAD v2 |
20 | g.2417504C>A | CA408015445 | TGM6 | c.1609C>A (p.Leu537Ile)
| gnomAD v4 |
20 | g.2417504C>G | CA408015444 | TGM6 | c.1609C>G (p.Leu537Val)
| |
20 | g.2417504C>T | CA408015443 | TGM6 | c.1609C>T (p.Leu537Phe)
| |
20 | g.2417505T>A | CA408015446 | TGM6 | c.1610T>A (p.Leu537His)
| |
20 | g.2417505T>C | CA310850395 | TGM6 | c.1610T>C (p.Leu537Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417505T>G | CA408015447 | TGM6 | c.1610T>G (p.Leu537Arg)
| |
20 | g.2417505T= | CA2346098478 | TGM6 | c.1610T= (p.Leu537=)
| |
20 | g.2417506C>A | CA509547690 | TGM6 | c.1611C>A (p.Leu537=)
| |
20 | g.2417506C>G | CA509547691 | TGM6 | c.1611C>G (p.Leu537=)
| |
20 | g.2417506C>T | CA509547692 | TGM6 | c.1611C>T (p.Leu537=)
| |
20 | g.2417507T>A | CA408015448 | TGM6 | c.1612T>A (p.Tyr538Asn)
| |
20 | g.2417507T>C | CA408015449 | TGM6 | c.1612T>C (p.Tyr538His)
| gnomAD v4 |
20 | g.2417507T>G | CA408015450 | TGM6 | c.1612T>G (p.Tyr538Asp)
| |
20 | g.2417508A>C | CA408015453 | TGM6 | c.1613A>C (p.Tyr538Ser)
| |
20 | g.2417508A>G | CA408015452 | TGM6 | c.1613A>G (p.Tyr538Cys)
| |
20 | g.2417508A>T | CA408015451 | TGM6 | c.1613A>T (p.Tyr538Phe)
| |
20 | g.2417509T>A | CA408015454 | TGM6 | c.1614T>A (p.Tyr538Ter)
| |
20 | g.2417509T>C | CA509547693 | TGM6 | c.1614T>C (p.Tyr538=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417509T>G | CA408015455 | TGM6 | c.1614T>G (p.Tyr538Ter)
| |
20 | g.2417509T= | CA2346098479 | TGM6 | c.1614T= (p.Tyr538=)
| |
20 | g.2417510A= | CA2346098480 | TGM6 | c.1615A= (p.Thr539=)
| |
20 | g.2417510A>C | CA9732146 | TGM6 | c.1615A>C (p.Thr539Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.2417510A>G | CA408015457 | TGM6 | c.1615A>G (p.Thr539Ala)
| |
20 | g.2417510A>T | CA408015456 | TGM6 | c.1615A>T (p.Thr539Ser)
| |
20 | g.2417511C>A | CA408015458 | TGM6 | c.1616C>A (p.Thr539Asn)
| |
20 | g.2417511C= | CA2346098481 | TGM6 | c.1616C= (p.Thr539=)
| |
20 | g.2417511C>G | CA408015460 | TGM6 | c.1616C>G (p.Thr539Ser)
| |
20 | g.2417511C>T | CA408015459 | TGM6 | c.1616C>T (p.Thr539Ile)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417513dup | CA2651627916 | TGM6 | c.1618dup (p.Arg540ProfsTer10)
| gnomAD v4 |
20 | g.2417512C>A | CA509547694 | TGM6 | c.1617C>A (p.Thr539=)
| |
20 | g.2417512C= | CA2346098482 | TGM6 | c.1617C= (p.Thr539=)
| |
20 | g.2417512C>G | CA509547695 | TGM6 | c.1617C>G (p.Thr539=)
| gnomAD v4 |
20 | g.2417512C>T | CA9732147 | TGM6 | c.1617C>T (p.Thr539=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417513C>A | CA408015461 | TGM6 | c.1618C>A (p.Arg540Ser)
| gnomAD v4 |
20 | g.2417513C= | CA2346098483 | TGM6 | c.1618C= (p.Arg540=)
| |
20 | g.2417513C>G | CA9732148 | TGM6 | c.1618C>G (p.Arg540Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417513C>T | CA310850401 | TGM6 | c.1618C>T (p.Arg540Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417514G>A | CA9732149 | TGM6 | c.1619G>A (p.Arg540His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.2417514G>C | CA408015462 | TGM6 | c.1619G>C (p.Arg540Pro)
| dbSNP |
20 | g.2417514G= | CA2346098484 | TGM6 | c.1619G= (p.Arg540=)
| |
20 | g.2417514G>T | CA408015463 | TGM6 | c.1619G>T (p.Arg540Leu)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417515C>A | CA9732150 | TGM6 | c.1620C>A (p.Arg540=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417515C= | CA2346098485 | TGM6 | c.1620C= (p.Arg540=)
| |
20 | g.2417515C>G | CA509547696 | TGM6 | c.1620C>G (p.Arg540=)
| dbSNP |
20 | g.2417515C>T | CA509547697 | TGM6 | c.1620C>T (p.Arg540=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417516A>C | CA408015466 | TGM6 | c.1621A>C (p.Lys541Gln)
| |
20 | g.2417516A>G | CA408015464 | TGM6 | c.1621A>G (p.Lys541Glu)
| |
20 | g.2417516A>T | CA408015465 | TGM6 | c.1621A>T (p.Lys541Ter)
| gnomAD v4 |
20 | g.2417517A>C | CA408015467 | TGM6 | c.1622A>C (p.Lys541Thr)
| gnomAD v4 |
20 | g.2417517A>G | CA408015468 | TGM6 | c.1622A>G (p.Lys541Arg)
| |
20 | g.2417517A>T | CA408015469 | TGM6 | c.1622A>T (p.Lys541Met)
| |
20 | g.2417518G>A | CA509547698 | TGM6 | c.1623G>A (p.Lys541=)
| |
20 | g.2417518G>C | CA408015470 | TGM6 | c.1623G>C (p.Lys541Asn)
| |
20 | g.2417518G>T | CA408015471 | TGM6 | c.1623G>T (p.Lys541Asn)
| |
20 | g.2417519C>A | CA408015474 | TGM6 | c.1624C>A (p.Pro542Thr)
| gnomAD v4 |
20 | g.2417519C>G | CA408015472 | TGM6 | c.1624C>G (p.Pro542Ala)
| |
20 | g.2417519C>T | CA408015473 | TGM6 | c.1624C>T (p.Pro542Ser)
| gnomAD v4 |
20 | g.2417520C>A | CA408015475 | TGM6 | c.1625C>A (p.Pro542Gln)
| |
20 | g.2417520C>G | CA408015476 | TGM6 | c.1625C>G (p.Pro542Arg)
| |
20 | g.2417520C>T | CA408015477 | TGM6 | c.1625C>T (p.Pro542Leu)
| |
20 | g.2417521A>C | CA509547699 | TGM6 | c.1626A>C (p.Pro542=)
| |
20 | g.2417521A>G | CA509547700 | TGM6 | c.1626A>G (p.Pro542=)
| gnomAD v4 |
20 | g.2417521A>T | CA509547701 | TGM6 | c.1626A>T (p.Pro542=)
| |
20 | g.2417522G>A | CA408015478 | TGM6 | c.1627G>A (p.Val543Met)
| dbSNP |
20 | g.2417522G>C | CA408015479 | TGM6 | c.1627G>C (p.Val543Leu)
| |
20 | g.2417522G= | CA2346098486 | TGM6 | c.1627G= (p.Val543=)
| |
20 | g.2417522G>T | CA408015480 | TGM6 | c.1627G>T (p.Val543Leu)
| gnomAD v4 |
20 | g.2417523T>A | CA408015481 | TGM6 | c.1628T>A (p.Val543Glu)
| |
20 | g.2417523T>C | CA9732151 | TGM6 | c.1628T>C (p.Val543Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417523T>G | CA408015482 | TGM6 | c.1628T>G (p.Val543Gly)
| |
20 | g.2417523T= | CA2346098487 | TGM6 | c.1628T= (p.Val543=)
| |
20 | g.2417524G>A | CA509547704 | TGM6 | c.1629G>A (p.Val543=)
| gnomAD v4 |
20 | g.2417524G>C | CA509547703 | TGM6 | c.1629G>C (p.Val543=)
| gnomAD v4 |
20 | g.2417524G>T | CA509547702 | TGM6 | c.1629G>T (p.Val543=)
| gnomAD v4 |
20 | g.2417525G>A | CA9732153 | TGM6 | c.1630G>A (p.Ala544Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417525G>C | CA408015483 | TGM6 | c.1630G>C (p.Ala544Pro)
| |
20 | g.2417525G= | CA2346098488 | TGM6 | c.1630G= (p.Ala544=)
| |
20 | g.2417525G>T | CA9732152 | TGM6 | c.1630G>T (p.Ala544Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417526C>A | CA408015484 | TGM6 | c.1631C>A (p.Ala544Glu)
| gnomAD v4 |
20 | g.2417526C>G | CA408015486 | TGM6 | c.1631C>G (p.Ala544Gly)
| |
20 | g.2417526C>T | CA408015485 | TGM6 | c.1631C>T (p.Ala544Val)
| gnomAD v4 |
20 | g.2417527A>C | CA509547705 | TGM6 | c.1632A>C (p.Ala544=)
| |
20 | g.2417527A>G | CA509547706 | TGM6 | c.1632A>G (p.Ala544=)
| gnomAD v4 |
20 | g.2417527A>T | CA509547707 | TGM6 | c.1632A>T (p.Ala544=)
| |
20 | g.2417528G>A | CA408015487 | TGM6 | c.1633G>A (p.Glu545Lys)
| COSMIC |
20 | g.2417528G>C | CA408015488 | TGM6 | c.1633G>C (p.Glu545Gln)
| gnomAD v4 |
20 | g.2417528G>T | CA408015489 | TGM6 | c.1633G>T (p.Glu545Ter)
| gnomAD v4 |
20 | g.2417529A>C | CA408015490 | TGM6 | c.1634A>C (p.Glu545Ala)
| |
20 | g.2417529A>G | CA408015491 | TGM6 | c.1634A>G (p.Glu545Gly)
| |
20 | g.2417529A>T | CA408015492 | TGM6 | c.1634A>T (p.Glu545Val)
| |
20 | g.2417530G>A | CA509547708 | TGM6 | c.1635G>A (p.Glu545=)
| |
20 | g.2417530G>C | CA408015493 | TGM6 | c.1635G>C (p.Glu545Asp)
| |
20 | g.2417530G>T | CA408015494 | TGM6 | c.1635G>T (p.Glu545Asp)
| gnomAD v4 |
20 | g.2417531A= | CA2346098489 | TGM6 | c.1636A= (p.Ile546=)
| |
20 | g.2417531A>C | CA408015495 | TGM6 | c.1636A>C (p.Ile546Leu)
| |
20 | g.2417531A>G | CA408015496 | TGM6 | c.1636A>G (p.Ile546Val)
| |
20 | g.2417531A>T | CA408015497 | TGM6 | c.1636A>T (p.Ile546Phe)
| dbSNP |
20 | g.2417532T>A | CA408015500 | TGM6 | c.1637T>A (p.Ile546Asn)
| gnomAD v4 |
20 | g.2417532T>C | CA408015499 | TGM6 | c.1637T>C (p.Ile546Thr)
| |
20 | g.2417532T>G | CA408015498 | TGM6 | c.1637T>G (p.Ile546Ser)
| |
20 | g.2417533C>A | CA509547709 | TGM6 | c.1638C>A (p.Ile546=)
| dbSNP |
20 | g.2417533C= | CA2346098490 | TGM6 | c.1638C= (p.Ile546=)
| |
20 | g.2417533C>G | CA408015501 | TGM6 | c.1638C>G (p.Ile546Met)
| dbSNP |
20 | g.2417533C>T | CA509547710 | TGM6 | c.1638C>T (p.Ile546=)
| |
20 | g.2417534C>A | CA408015502 | TGM6 | c.1639C>A (p.Leu547Met)
| |
20 | g.2417534C>G | CA408015503 | TGM6 | c.1639C>G (p.Leu547Val)
| |
20 | g.2417534C>T | CA509547711 | TGM6 | c.1639C>T (p.Leu547=)
| |
20 | g.2417535T>A | CA408015504 | TGM6 | c.1640T>A (p.Leu547Gln)
| |
20 | g.2417535T>C | CA408015505 | TGM6 | c.1640T>C (p.Leu547Pro)
| gnomAD v4 |
20 | g.2417535T>G | CA408015506 | TGM6 | c.1640T>G (p.Leu547Arg)
| |
20 | g.2417536G>A | CA509547712 | TGM6 | c.1641G>A (p.Leu547=)
| |
20 | g.2417536G>C | CA509547713 | TGM6 | c.1641G>C (p.Leu547=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417536G= | CA2346098491 | TGM6 | c.1641G= (p.Leu547=)
| |
20 | g.2417536G>T | CA9732154 | TGM6 | c.1641G>T (p.Leu547=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417537C>A | CA408015507 | TGM6 | c.1642C>A (p.His548Asn)
| |
20 | g.2417537C= | CA2346098492 | TGM6 | c.1642C= (p.His548=)
| |
20 | g.2417537C>G | CA408015508 | TGM6 | c.1642C>G (p.His548Asp)
| |
20 | g.2417537C>T | CA408015509 | TGM6 | c.1642C>T (p.His548Tyr)
| dbSNP |
20 | g.2417538A= | CA2346098493 | TGM6 | c.1643A= (p.His548=)
| |
20 | g.2417538A>C | CA408015510 | TGM6 | c.1643A>C (p.His548Pro)
| |
20 | g.2417538A>G | CA9732155 | TGM6 | c.1643A>G (p.His548Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417538A>T | CA408015511 | TGM6 | c.1643A>T (p.His548Leu)
| |
20 | g.2417539T>A | CA408015512 | TGM6 | c.1644T>A (p.His548Gln)
| |
20 | g.2417539T>C | CA509547714 | TGM6 | c.1644T>C (p.His548=)
| gnomAD v4 |
20 | g.2417539T>G | CA408015513 | TGM6 | c.1644T>G (p.His548Gln)
| |
20 | g.2417540G>A | CA408015514 | TGM6 | c.1645G>A (p.Glu549Lys)
| |
20 | g.2417540G>C | CA408015516 | TGM6 | c.1645G>C (p.Glu549Gln)
| gnomAD v4 |
20 | g.2417540G>T | CA408015515 | TGM6 | c.1645G>T (p.Glu549Ter)
| gnomAD v4 |
20 | g.2417541A>C | CA408015517 | TGM6 | c.1646A>C (p.Glu549Ala)
| |
20 | g.2417541A>G | CA408015518 | TGM6 | c.1646A>G (p.Glu549Gly)
| gnomAD v4 |
20 | g.2417541A>T | CA408015519 | TGM6 | c.1646A>T (p.Glu549Val)
| gnomAD v4 |
20 | g.2417542A>C | CA408015520 | TGM6 | c.1647A>C (p.Glu549Asp)
| gnomAD v4 |
20 | g.2417542A>G | CA509547715 | TGM6 | c.1647A>G (p.Glu549=)
| gnomAD v4 |
20 | g.2417542A>T | CA408015521 | TGM6 | c.1647A>T (p.Glu549Asp)
| |
20 | g.2417543T>A | CA408015522 | TGM6 | c.1648T>A (p.Ser550Thr)
| |
20 | g.2417543T>C | CA408015523 | TGM6 | c.1648T>C (p.Ser550Pro)
| |
20 | g.2417543T>G | CA408015524 | TGM6 | c.1648T>G (p.Ser550Ala)
| |
20 | g.2417544C>A | CA408015525 | TGM6 | c.1649C>A (p.Ser550Tyr)
| gnomAD v4 |
20 | g.2417544C>G | CA408015526 | TGM6 | c.1649C>G (p.Ser550Cys)
| |
20 | g.2417544C>T | CA408015527 | TGM6 | c.1649C>T (p.Ser550Phe)
| gnomAD v4 |
20 | g.2417545C>A | CA509547718 | TGM6 | c.1650C>A (p.Ser550=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417545C= | CA2346098494 | TGM6 | c.1650C= (p.Ser550=)
| |
20 | g.2417545C>G | CA509547716 | TGM6 | c.1650C>G (p.Ser550=)
| |
20 | g.2417545C>T | CA509547717 | TGM6 | c.1650C>T (p.Ser550=)
| dbSNP gnomAD v2 |
20 | g.2417546C>A | CA408015530 | TGM6 | c.1651C>A (p.His551Asn)
| gnomAD v4 |
20 | g.2417546C>G | CA408015529 | TGM6 | c.1651C>G (p.His551Asp)
| |
20 | g.2417546C>T | CA408015528 | TGM6 | c.1651C>T (p.His551Tyr)
| |
20 | g.2417547_2417548insGTGGCAGAGATCCCATGAATTCCGCTTAACATCAGCCTCA | CA2651627918 | TGM6 | c.1652_1653insGTGGCAGAGATCCCATGAATTCCGCTTAACATCAGCCTCA (p.His551GlnfsTer34)
| gnomAD v4 |
20 | g.2417547A>C | CA408015531 | TGM6 | c.1652A>C (p.His551Pro)
| |
20 | g.2417547A>G | CA408015532 | TGM6 | c.1652A>G (p.His551Arg)
| |
20 | g.2417547A>T | CA408015533 | TGM6 | c.1652A>T (p.His551Leu)
| |
20 | g.2417548C>A | CA408015534 | TGM6 | c.1653C>A (p.His551Gln)
| |
20 | g.2417548C= | CA2346098495 | TGM6 | c.1653C= (p.His551=)
| |
20 | g.2417548C>G | CA408015535 | TGM6 | c.1653C>G (p.His551Gln)
| |
20 | g.2417548C>T | CA9732156 | TGM6 | c.1653C>T (p.His551=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |