Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209625844_209625846del | CA2747564048 | LAMB3 | c.1778_1780del (p.Arg593_Glu594delinsGln) c.1586_1588del (p.Arg529_Glu530delinsGln) | |
1 | g.209625845C>A | CA423142679 | LAMB3 | c.1779G>T (p.Arg593=) c.1587G>T (p.Arg529=) | |
1 | g.209625845C= | CA2484299252 | LAMB3 | c.1779G= (p.Arg593=) c.1587G= (p.Arg529=) | |
1 | g.209625845C>G | CA423142680 | LAMB3 | c.1779G>C (p.Arg593=) c.1587G>C (p.Arg529=) | |
1 | g.209625845C>T | CA423142681 | LAMB3 | c.1779G>A (p.Arg593=) c.1587G>A (p.Arg529=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625846C>A | CA344589409 | LAMB3 | c.1778G>T (p.Arg593Leu) c.1586G>T (p.Arg529Leu) | gnomAD v4 COSMIC |
1 | g.209625846C= | CA1145713575 | LAMB3 | c.1778G= (p.Arg593=) c.1586G= (p.Arg529=) | |
1 | g.209625846C>G | CA344589410 | LAMB3 | c.1778G>C (p.Arg593Pro) c.1586G>C (p.Arg529Pro) | |
1 | g.209625846C>T | CA1375466 | LAMB3 | c.1778G>A (p.Arg593Gln) c.1586G>A (p.Arg529Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625847G>A | CA1375467 | LAMB3 | c.1777C>T (p.Arg593Trp) c.1585C>T (p.Arg529Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625847G>C | CA344589411 | LAMB3 | c.1777C>G (p.Arg593Gly) c.1585C>G (p.Arg529Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625847G= | CA1142129111 | LAMB3 | c.1777C= (p.Arg593=) c.1585C= (p.Arg529=) | |
1 | g.209625847G>T | CA423142682 | LAMB3 | c.1777C>A (p.Arg593=) c.1585C>A (p.Arg529=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625848G>A | CA423142683 | LAMB3 | c.1776C>T (p.Leu592=) c.1584C>T (p.Leu528=) | |
1 | g.209625848G>C | CA423142684 | LAMB3 | c.1776C>G (p.Leu592=) c.1584C>G (p.Leu528=) | dbSNP |
1 | g.209625848G= | CA2484299253 | LAMB3 | c.1776C= (p.Leu592=) c.1584C= (p.Leu528=) | |
1 | g.209625848G>T | CA423142685 | LAMB3 | c.1776C>A (p.Leu592=) c.1584C>A (p.Leu528=) | |
1 | g.209625849A= | CA2484299254 | LAMB3 | c.1775T= (p.Leu592=) c.1583T= (p.Leu528=) | |
1 | g.209625849A>C | CA344589412 | LAMB3 | c.1775T>G (p.Leu592Arg) c.1583T>G (p.Leu528Arg) | |
1 | g.209625849A>G | CA344589413 | LAMB3 | c.1775T>C (p.Leu592Pro) c.1583T>C (p.Leu528Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625849A>T | CA344589414 | LAMB3 | c.1775T>A (p.Leu592His) c.1583T>A (p.Leu528His) | |
1 | g.209625850G>A | CA344589415 | LAMB3 | c.1774C>T (p.Leu592Phe) c.1582C>T (p.Leu528Phe) | |
1 | g.209625850G>C | CA344589417 | LAMB3 | c.1774C>G (p.Leu592Val) c.1582C>G (p.Leu528Val) | |
1 | g.209625850G= | CA2484299255 | LAMB3 | c.1774C= (p.Leu592=) c.1582C= (p.Leu528=) | |
1 | g.209625850G>T | CA344589416 | LAMB3 | c.1774C>A (p.Leu592Ile) c.1582C>A (p.Leu528Ile) | dbSNP |
1 | g.209625851G>A | CA423142686 | LAMB3 | c.1773C>T (p.Asp591=) c.1581C>T (p.Asp527=) | dbSNP gnomAD v4 |
1 | g.209625851G>C | CA344589418 | LAMB3 | c.1773C>G (p.Asp591Glu) c.1581C>G (p.Asp527Glu) | |
1 | g.209625851G= | CA2484299256 | LAMB3 | c.1773C= (p.Asp591=) c.1581C= (p.Asp527=) | |
1 | g.209625851G>T | CA344589419 | LAMB3 | c.1773C>A (p.Asp591Glu) c.1581C>A (p.Asp527Glu) | gnomAD v4 |
1 | g.209625852T>A | CA344589420 | LAMB3 | c.1772A>T (p.Asp591Val) c.1580A>T (p.Asp527Val) | |
1 | g.209625852T>C | CA344589421 | LAMB3 | c.1772A>G (p.Asp591Gly) c.1580A>G (p.Asp527Gly) | |
1 | g.209625852T>G | CA344589422 | LAMB3 | c.1772A>C (p.Asp591Ala) c.1580A>C (p.Asp527Ala) | |
1 | g.209625853C>A | CA344589424 | LAMB3 | c.1771G>T (p.Asp591Tyr) c.1579G>T (p.Asp527Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625853C= | CA2484299257 | LAMB3 | c.1771G= (p.Asp591=) c.1579G= (p.Asp527=) | |
1 | g.209625853C>G | CA344589425 | LAMB3 | c.1771G>C (p.Asp591His) c.1579G>C (p.Asp527His) | |
1 | g.209625853C>T | CA344589426 | LAMB3 | c.1771G>A (p.Asp591Asn) c.1579G>A (p.Asp527Asn) | dbSNP |
1 | g.209625854C>A | CA423142687 | LAMB3 | c.1770G>T (p.Ala590=) c.1578G>T (p.Ala526=) | |
1 | g.209625854C= | CA1141939592 | LAMB3 | c.1770G= (p.Ala590=) c.1578G= (p.Ala526=) | |
1 | g.209625854C>G | CA423142688 | LAMB3 | c.1770G>C (p.Ala590=) c.1578G>C (p.Ala526=) | |
1 | g.209625854C>T | CA1375468 | LAMB3 | c.1770G>A (p.Ala590=) c.1578G>A (p.Ala526=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625855G>A | CA1375469 | LAMB3 | c.1769C>T (p.Ala590Val) c.1577C>T (p.Ala526Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625855G>C | CA344589428 | LAMB3 | c.1769C>G (p.Ala590Gly) c.1577C>G (p.Ala526Gly) | |
1 | g.209625855G= | CA1141925505 | LAMB3 | c.1769C= (p.Ala590=) c.1577C= (p.Ala526=) | |
1 | g.209625855G>T | CA344589430 | LAMB3 | c.1769C>A (p.Ala590Glu) c.1577C>A (p.Ala526Glu) | gnomAD v4 |
1 | g.209625856C>A | CA344589432 | LAMB3 | c.1768G>T (p.Ala590Ser) c.1576G>T (p.Ala526Ser) | COSMIC |
1 | g.209625856C= | CA2484299258 | LAMB3 | c.1768G= (p.Ala590=) c.1576G= (p.Ala526=) | |
1 | g.209625856C>G | CA344589436 | LAMB3 | c.1768G>C (p.Ala590Pro) c.1576G>C (p.Ala526Pro) | |
1 | g.209625856C>T | CA344589434 | LAMB3 | c.1768G>A (p.Ala590Thr) c.1576G>A (p.Ala526Thr) | dbSNP gnomAD v4 |
1 | g.209625857A= | CA2484299259 | LAMB3 | c.1767T= (p.Asp589=) c.1575T= (p.Asp525=) | |
1 | g.209625857A>C | CA344589438 | LAMB3 | c.1767T>G (p.Asp589Glu) c.1575T>G (p.Asp525Glu) | gnomAD v4 |
1 | g.209625857A>G | CA1375470 | LAMB3 | c.1767T>C (p.Asp589=) c.1575T>C (p.Asp525=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625857A>T | CA344589441 | LAMB3 | c.1767T>A (p.Asp589Glu) c.1575T>A (p.Asp525Glu) | |
1 | g.209625858T>A | CA344589444 | LAMB3 | c.1766A>T (p.Asp589Val) c.1574A>T (p.Asp525Val) | |
1 | g.209625858T>C | CA344589445 | LAMB3 | c.1766A>G (p.Asp589Gly) c.1574A>G (p.Asp525Gly) | |
1 | g.209625858T>G | CA344589447 | LAMB3 | c.1766A>C (p.Asp589Ala) c.1574A>C (p.Asp525Ala) | |
1 | g.209625859C>A | CA344589449 | LAMB3 | c.1765G>T (p.Asp589Tyr) c.1573G>T (p.Asp525Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625859C= | CA2484299260 | LAMB3 | c.1765G= (p.Asp589=) c.1573G= (p.Asp525=) | |
1 | g.209625859C>G | CA344589451 | LAMB3 | c.1765G>C (p.Asp589His) c.1573G>C (p.Asp525His) | |
1 | g.209625859C>T | CA344589453 | LAMB3 | c.1765G>A (p.Asp589Asn) c.1573G>A (p.Asp525Asn) | COSMIC |
1 | g.209625860A= | CA1139922146 | LAMB3 | c.1764T= (p.Tyr588=) c.1572T= (p.Tyr524=) | |
1 | g.209625860A>C | CA344589455 | LAMB3 | c.1764T>G (p.Tyr588Ter) c.1572T>G (p.Tyr524Ter) | |
1 | g.209625860A>G | CA1375471 | LAMB3 | c.1764T>C (p.Tyr588=) c.1572T>C (p.Tyr524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625860A>T | CA344589466 | LAMB3 | c.1764T>A (p.Tyr588Ter) c.1572T>A (p.Tyr524Ter) | |
1 | g.209625861T>A | CA344589471 | LAMB3 | c.1763A>T (p.Tyr588Phe) c.1571A>T (p.Tyr524Phe) | |
1 | g.209625861T>C | CA1375472 | LAMB3 | c.1763A>G (p.Tyr588Cys) c.1571A>G (p.Tyr524Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625861T>G | CA344589469 | LAMB3 | c.1763A>C (p.Tyr588Ser) c.1571A>C (p.Tyr524Ser) | |
1 | g.209625861T= | CA2484299261 | LAMB3 | c.1763A= (p.Tyr588=) c.1571A= (p.Tyr524=) | |
1 | g.209625862A>C | CA344589475 | LAMB3 | c.1762T>G (p.Tyr588Asp) c.1570T>G (p.Tyr524Asp) | gnomAD v4 |
1 | g.209625862A>G | CA344589476 | LAMB3 | c.1762T>C (p.Tyr588His) c.1570T>C (p.Tyr524His) | COSMIC |
1 | g.209625862A>T | CA344589478 | LAMB3 | c.1762T>A (p.Tyr588Asn) c.1570T>A (p.Tyr524Asn) | |
1 | g.209625863G>A | CA423142689 | LAMB3 | c.1761C>T (p.Thr587=) c.1569C>T (p.Thr523=) | gnomAD v3 gnomAD v4 |
1 | g.209625863G>C | CA423142690 | LAMB3 | c.1761C>G (p.Thr587=) c.1569C>G (p.Thr523=) | |
1 | g.209625863G= | CA1142775047 | LAMB3 | c.1761C= (p.Thr587=) c.1569C= (p.Thr523=) | |
1 | g.209625863G>T | CA1375473 | LAMB3 | c.1761C>A (p.Thr587=) c.1569C>A (p.Thr523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625864del | CA2586964555 | LAMB3 | c.1761del (p.Tyr588MetfsTer?) c.1569del (p.Tyr524MetfsTer?) | |
1 | g.209625864G>A | CA344589486 | LAMB3 | c.1760C>T (p.Thr587Ile) c.1568C>T (p.Thr523Ile) | |
1 | g.209625864G>C | CA344589484 | LAMB3 | c.1760C>G (p.Thr587Ser) c.1568C>G (p.Thr523Ser) | |
1 | g.209625864G>T | CA344589481 | LAMB3 | c.1760C>A (p.Thr587Asn) c.1568C>A (p.Thr523Asn) | |
1 | g.209625865T>A | CA344589489 | LAMB3 | c.1759A>T (p.Thr587Ser) c.1567A>T (p.Thr523Ser) | gnomAD v4 |
1 | g.209625865T>C | CA344589491 | LAMB3 | c.1759A>G (p.Thr587Ala) c.1567A>G (p.Thr523Ala) | |
1 | g.209625865T>G | CA344589493 | LAMB3 | c.1759A>C (p.Thr587Pro) c.1567A>C (p.Thr523Pro) | |
1 | g.209625866C>A | CA344589495 | LAMB3 | c.1758G>T (p.Gln586His) c.1566G>T (p.Gln522His) | |
1 | g.209625866C= | CA2484299262 | LAMB3 | c.1758G= (p.Gln586=) c.1566G= (p.Gln522=) | |
1 | g.209625866C>G | CA344589496 | LAMB3 | c.1758G>C (p.Gln586His) c.1566G>C (p.Gln522His) | |
1 | g.209625866C>T | CA1375474 | LAMB3 | c.1758G>A (p.Gln586=) c.1566G>A (p.Gln522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625867T>A | CA344589500 | LAMB3 | c.1757A>T (p.Gln586Leu) c.1565A>T (p.Gln522Leu) | |
1 | g.209625867T>C | CA344589503 | LAMB3 | c.1757A>G (p.Gln586Arg) c.1565A>G (p.Gln522Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625867T>G | CA344589502 | LAMB3 | c.1757A>C (p.Gln586Pro) c.1565A>C (p.Gln522Pro) | |
1 | g.209625867T= | CA2484299263 | LAMB3 | c.1757A= (p.Gln586=) c.1565A= (p.Gln522=) | |
1 | g.209625868G>A | CA1375475 | LAMB3 | c.1756C>T (p.Gln586Ter) c.1564C>T (p.Gln522Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625868G>C | CA344589507 | LAMB3 | c.1756C>G (p.Gln586Glu) c.1564C>G (p.Gln522Glu) | |
1 | g.209625868G= | CA1149147611 | LAMB3 | c.1756C= (p.Gln586=) c.1564C= (p.Gln522=) | |
1 | g.209625868G>T | CA344589508 | LAMB3 | c.1756C>A (p.Gln586Lys) c.1564C>A (p.Gln522Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625869G>A | CA423142691 | LAMB3 | c.1755C>T (p.Phe585=) c.1563C>T (p.Phe521=) | |
1 | g.209625869G>C | CA344589510 | LAMB3 | c.1755C>G (p.Phe585Leu) c.1563C>G (p.Phe521Leu) | dbSNP |
1 | g.209625869G= | CA2484299264 | LAMB3 | c.1755C= (p.Phe585=) c.1563C= (p.Phe521=) | |
1 | g.209625869G>T | CA344589512 | LAMB3 | c.1755C>A (p.Phe585Leu) c.1563C>A (p.Phe521Leu) | |
1 | g.209625870A>C | CA344589514 | LAMB3 | c.1754T>G (p.Phe585Cys) c.1562T>G (p.Phe521Cys) | |
1 | g.209625870A>G | CA344589516 | LAMB3 | c.1754T>C (p.Phe585Ser) c.1562T>C (p.Phe521Ser) | |
1 | g.209625870A>T | CA344589518 | LAMB3 | c.1754T>A (p.Phe585Tyr) c.1562T>A (p.Phe521Tyr) | |
1 | g.209625871A= | CA2484299265 | LAMB3 | c.1753T= (p.Phe585=) c.1561T= (p.Phe521=) | |
1 | g.209625871A>C | CA344589520 | LAMB3 | c.1753T>G (p.Phe585Val) c.1561T>G (p.Phe521Val) | |
1 | g.209625871A>G | CA1375476 | LAMB3 | c.1753T>C (p.Phe585Leu) c.1561T>C (p.Phe521Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625871A>T | CA344589523 | LAMB3 | c.1753T>A (p.Phe585Ile) c.1561T>A (p.Phe521Ile) | |
1 | g.209625872G>A | CA423142692 | LAMB3 | c.1752C>T (p.Cys584=) c.1560C>T (p.Cys520=) | |
1 | g.209625872G>C | CA344589525 | LAMB3 | c.1752C>G (p.Cys584Trp) c.1560C>G (p.Cys520Trp) | |
1 | g.209625872G>T | CA344589527 | LAMB3 | c.1752C>A (p.Cys584Ter) c.1560C>A (p.Cys520Ter) | |
1 | g.209625873C>A | CA344589533 | LAMB3 | c.1751G>T (p.Cys584Phe) c.1559G>T (p.Cys520Phe) | |
1 | g.209625873C>G | CA344589531 | LAMB3 | c.1751G>C (p.Cys584Ser) c.1559G>C (p.Cys520Ser) | |
1 | g.209625873C>T | CA344589529 | LAMB3 | c.1751G>A (p.Cys584Tyr) c.1559G>A (p.Cys520Tyr) | |
1 | g.209625874A>C | CA344589536 | LAMB3 | c.1750T>G (p.Cys584Gly) c.1558T>G (p.Cys520Gly) | |
1 | g.209625874A>G | CA344589538 | LAMB3 | c.1750T>C (p.Cys584Arg) c.1558T>C (p.Cys520Arg) | |
1 | g.209625874A>T | CA344589540 | LAMB3 | c.1750T>A (p.Cys584Ser) c.1558T>A (p.Cys520Ser) | |
1 | g.209625875A>C | CA423142693 | LAMB3 | c.1749T>G (p.Pro583=) c.1557T>G (p.Pro519=) | |
1 | g.209625875A>G | CA423142694 | LAMB3 | c.1749T>C (p.Pro583=) c.1557T>C (p.Pro519=) | |
1 | g.209625875A>T | CA423142695 | LAMB3 | c.1749T>A (p.Pro583=) c.1557T>A (p.Pro519=) | |
1 | g.209625876G>A | CA344589543 | LAMB3 | c.1748C>T (p.Pro583Leu) c.1556C>T (p.Pro519Leu) | dbSNP COSMIC |
1 | g.209625876G>C | CA344589544 | LAMB3 | c.1748C>G (p.Pro583Arg) c.1556C>G (p.Pro519Arg) | |
1 | g.209625876G= | CA2484299266 | LAMB3 | c.1748C= (p.Pro583=) c.1556C= (p.Pro519=) | |
1 | g.209625876G>T | CA344589546 | LAMB3 | c.1748C>A (p.Pro583His) c.1556C>A (p.Pro519His) | ClinVar dbSNP |
1 | g.209625877G>A | CA344589548 | LAMB3 | c.1747C>T (p.Pro583Ser) c.1555C>T (p.Pro519Ser) | |
1 | g.209625877G>C | CA344589549 | LAMB3 | c.1747C>G (p.Pro583Ala) c.1555C>G (p.Pro519Ala) | |
1 | g.209625877G>T | CA344589552 | LAMB3 | c.1747C>A (p.Pro583Thr) c.1555C>A (p.Pro519Thr) | |
1 | g.209625878G>A | CA423142696 | LAMB3 | c.1746C>T (p.His582=) c.1554C>T (p.His518=) | |
1 | g.209625878G>C | CA344589555 | LAMB3 | c.1746C>G (p.His582Gln) c.1554C>G (p.His518Gln) | |
1 | g.209625878G>T | CA344589557 | LAMB3 | c.1746C>A (p.His582Gln) c.1554C>A (p.His518Gln) | |
1 | g.209625879T>A | CA344589559 | LAMB3 | c.1745A>T (p.His582Leu) c.1553A>T (p.His518Leu) | |
1 | g.209625879T>C | CA344589561 | LAMB3 | c.1745A>G (p.His582Arg) c.1553A>G (p.His518Arg) | |
1 | g.209625879T>G | CA344589564 | LAMB3 | c.1745A>C (p.His582Pro) c.1553A>C (p.His518Pro) | |
1 | g.209625880G>A | CA344589569 | LAMB3 | c.1744C>T (p.His582Tyr) c.1552C>T (p.His518Tyr) | |
1 | g.209625880G>C | CA344589571 | LAMB3 | c.1744C>G (p.His582Asp) c.1552C>G (p.His518Asp) | |
1 | g.209625880G>T | CA344589566 | LAMB3 | c.1744C>A (p.His582Asn) c.1552C>A (p.His518Asn) | |
1 | g.209625881G>A | CA423142697 | LAMB3 | c.1743C>T (p.Cys581=) c.1551C>T (p.Cys517=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625881G>C | CA344589572 | LAMB3 | c.1743C>G (p.Cys581Trp) c.1551C>G (p.Cys517Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625881G= | CA2484299267 | LAMB3 | c.1743C= (p.Cys581=) c.1551C= (p.Cys517=) | |
1 | g.209625881G>T | CA344589573 | LAMB3 | c.1743C>A (p.Cys581Ter) c.1551C>A (p.Cys517Ter) | dbSNP gnomAD v2 COSMIC |
1 | g.209625882C>A | CA344589574 | LAMB3 | c.1742G>T (p.Cys581Phe) c.1550G>T (p.Cys517Phe) | |
1 | g.209625882C>G | CA344589575 | LAMB3 | c.1742G>C (p.Cys581Ser) c.1550G>C (p.Cys517Ser) | |
1 | g.209625882C>T | CA344589577 | LAMB3 | c.1742G>A (p.Cys581Tyr) c.1550G>A (p.Cys517Tyr) | gnomAD v4 |
1 | g.209625883A>C | CA344589580 | LAMB3 | c.1741T>G (p.Cys581Gly) c.1549T>G (p.Cys517Gly) | gnomAD v4 |
1 | g.209625883A>G | CA344589582 | LAMB3 | c.1741T>C (p.Cys581Arg) c.1549T>C (p.Cys517Arg) | |
1 | g.209625883A>T | CA344589584 | LAMB3 | c.1741T>A (p.Cys581Ser) c.1549T>A (p.Cys517Ser) | |
1 | g.209625884G>A | CA423142698 | LAMB3 | c.1740C>T (p.Ala580=) c.1548C>T (p.Ala516=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625884G>C | CA423142699 | LAMB3 | c.1740C>G (p.Ala580=) c.1548C>G (p.Ala516=) | |
1 | g.209625884G= | CA2484299268 | LAMB3 | c.1740C= (p.Ala580=) c.1548C= (p.Ala516=) | |
1 | g.209625884G>T | CA423142700 | LAMB3 | c.1740C>A (p.Ala580=) c.1548C>A (p.Ala516=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625885G>A | CA344589586 | LAMB3 | c.1739C>T (p.Ala580Val) c.1547C>T (p.Ala516Val) | |
1 | g.209625885G>C | CA344589587 | LAMB3 | c.1739C>G (p.Ala580Gly) c.1547C>G (p.Ala516Gly) | |
1 | g.209625885G>T | CA344589588 | LAMB3 | c.1739C>A (p.Ala580Asp) c.1547C>A (p.Ala516Asp) | |
1 | g.209625886C>A | CA344589595 | LAMB3 | c.1738G>T (p.Ala580Ser) c.1546G>T (p.Ala516Ser) | |
1 | g.209625886C>G | CA344589593 | LAMB3 | c.1738G>C (p.Ala580Pro) c.1546G>C (p.Ala516Pro) | |
1 | g.209625886C>T | CA344589591 | LAMB3 | c.1738G>A (p.Ala580Thr) c.1546G>A (p.Ala516Thr) | gnomAD v4 |
1 | g.209625887C>A | CA423142703 | LAMB3 | c.1737G>T (p.Val579=) c.1545G>T (p.Val515=) | |
1 | g.209625887C>G | CA423142701 | LAMB3 | c.1737G>C (p.Val579=) c.1545G>C (p.Val515=) | |
1 | g.209625887C>T | CA423142702 | LAMB3 | c.1737G>A (p.Val579=) c.1545G>A (p.Val515=) | gnomAD v4 |
1 | g.209625888A>C | CA344589597 | LAMB3 | c.1736T>G (p.Val579Gly) c.1544T>G (p.Val515Gly) | |
1 | g.209625888A>G | CA344589598 | LAMB3 | c.1736T>C (p.Val579Ala) c.1544T>C (p.Val515Ala) | |
1 | g.209625888A>T | CA344589600 | LAMB3 | c.1736T>A (p.Val579Glu) c.1544T>A (p.Val515Glu) | |
1 | g.209625889C>A | CA344589602 | LAMB3 | c.1735G>T (p.Val579Leu) c.1543G>T (p.Val515Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625889C= | CA2484299269 | LAMB3 | c.1735G= (p.Val579=) c.1543G= (p.Val515=) | |
1 | g.209625889C>G | CA344589604 | LAMB3 | c.1735G>C (p.Val579Leu) c.1543G>C (p.Val515Leu) | |
1 | g.209625889C>T | CA1375477 | LAMB3 | c.1735G>A (p.Val579Met) c.1543G>A (p.Val515Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625889_209625890insACACCCCCAAACACACCCA | CA2747564049 | LAMB3 | c.1734_1735insTGGGTGTGTTTGGGGGTGT (p.Val579TrpfsTer17) c.1542_1543insTGGGTGTGTTTGGGGGTGT (p.Val515TrpfsTer17) | |
1 | g.209625890G>A | CA1375478 | LAMB3 | c.1734C>T (p.Cys578=) c.1542C>T (p.Cys514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625890G>C | CA344589607 | LAMB3 | c.1734C>G (p.Cys578Trp) c.1542C>G (p.Cys514Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625890G= | CA1141634982 | LAMB3 | c.1734C= (p.Cys578=) c.1542C= (p.Cys514=) | |
1 | g.209625890G>T | CA344589609 | LAMB3 | c.1734C>A (p.Cys578Ter) c.1542C>A (p.Cys514Ter) | |
1 | g.209625891C>A | CA344589610 | LAMB3 | c.1733G>T (p.Cys578Phe) c.1541G>T (p.Cys514Phe) | |
1 | g.209625891C>G | CA344589612 | LAMB3 | c.1733G>C (p.Cys578Ser) c.1541G>C (p.Cys514Ser) | |
1 | g.209625891C>T | CA344589614 | LAMB3 | c.1733G>A (p.Cys578Tyr) c.1541G>A (p.Cys514Tyr) | |
1 | g.209625891_209625892insCT | CA2650321827 | LAMB3 | c.1732_1733insAG (p.Cys578Ter) c.1540_1541insAG (p.Cys514Ter) | gnomAD v4 |
1 | g.209625892A>C | CA344589616 | LAMB3 | c.1732T>G (p.Cys578Gly) c.1540T>G (p.Cys514Gly) | |
1 | g.209625892A>G | CA344589620 | LAMB3 | c.1732T>C (p.Cys578Arg) c.1540T>C (p.Cys514Arg) | |
1 | g.209625892A>T | CA344589618 | LAMB3 | c.1732T>A (p.Cys578Ser) c.1540T>A (p.Cys514Ser) | |
1 | g.209625893C>A | CA423142704 | LAMB3 | c.1731G>T (p.Val577=) c.1539G>T (p.Val513=) | |
1 | g.209625893C>G | CA423142705 | LAMB3 | c.1731G>C (p.Val577=) c.1539G>C (p.Val513=) | |
1 | g.209625893C>T | CA423142706 | LAMB3 | c.1731G>A (p.Val577=) c.1539G>A (p.Val513=) | ClinVar |
1 | g.209625894A>C | CA344589621 | LAMB3 | c.1730T>G (p.Val577Gly) c.1538T>G (p.Val513Gly) | |
1 | g.209625894A>G | CA344589626 | LAMB3 | c.1730T>C (p.Val577Ala) c.1538T>C (p.Val513Ala) | |
1 | g.209625894A>T | CA344589624 | LAMB3 | c.1730T>A (p.Val577Glu) c.1538T>A (p.Val513Glu) | |
1 | g.209625895C>A | CA344589627 | LAMB3 | c.1729G>T (p.Val577Leu) c.1537G>T (p.Val513Leu) | gnomAD v4 |
1 | g.209625895C>G | CA344589629 | LAMB3 | c.1729G>C (p.Val577Leu) c.1537G>C (p.Val513Leu) | |
1 | g.209625895C>T | CA344589628 | LAMB3 | c.1729G>A (p.Val577Met) c.1537G>A (p.Val513Met) | gnomAD v4 |
1 | g.209625896C>A | CA423142707 | LAMB3 | c.1728G>T (p.Pro576=) c.1536G>T (p.Pro512=) | COSMIC |
1 | g.209625896C= | CA2484299270 | LAMB3 | c.1728G= (p.Pro576=) c.1536G= (p.Pro512=) | |
1 | g.209625896C>G | CA423142708 | LAMB3 | c.1728G>C (p.Pro576=) c.1536G>C (p.Pro512=) | |
1 | g.209625896C>T | CA1375479 | LAMB3 | c.1728G>A (p.Pro576=) c.1536G>A (p.Pro512=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625897G>A | CA1375480 | LAMB3 | c.1727C>T (p.Pro576Leu) c.1535C>T (p.Pro512Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625897G>C | CA1375481 | LAMB3 | c.1727C>G (p.Pro576Arg) c.1535C>G (p.Pro512Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625897G= | CA1143524069 | LAMB3 | c.1727C= (p.Pro576=) c.1535C= (p.Pro512=) | |
1 | g.209625897G>T | CA344589631 | LAMB3 | c.1727C>A (p.Pro576Gln) c.1535C>A (p.Pro512Gln) | gnomAD v4 |
1 | g.209625898G>A | CA36756400 | LAMB3 | c.1726C>T (p.Pro576Ser) c.1534C>T (p.Pro512Ser) | dbSNP |
1 | g.209625898G>C | CA344589634 | LAMB3 | c.1726C>G (p.Pro576Ala) c.1534C>G (p.Pro512Ala) | |
1 | g.209625898G= | CA2484299271 | LAMB3 | c.1726C= (p.Pro576=) c.1534C= (p.Pro512=) | |
1 | g.209625898G>T | CA344589635 | LAMB3 | c.1726C>A (p.Pro576Thr) c.1534C>A (p.Pro512Thr) | |
1 | g.209625899G>A | CA423142709 | LAMB3 | c.1725C>T (p.Tyr575=) c.1533C>T (p.Tyr511=) | gnomAD v4 |
1 | g.209625899G>C | CA344589637 | LAMB3 | c.1725C>G (p.Tyr575Ter) c.1533C>G (p.Tyr511Ter) | |
1 | g.209625899G>T | CA344589639 | LAMB3 | c.1725C>A (p.Tyr575Ter) c.1533C>A (p.Tyr511Ter) | |
1 | g.209625900T>A | CA344589641 | LAMB3 | c.1724A>T (p.Tyr575Phe) c.1532A>T (p.Tyr511Phe) | |
1 | g.209625900T>C | CA344589643 | LAMB3 | c.1724A>G (p.Tyr575Cys) c.1532A>G (p.Tyr511Cys) | dbSNP |
1 | g.209625900T>G | CA344589645 | LAMB3 | c.1724A>C (p.Tyr575Ser) c.1532A>C (p.Tyr511Ser) | |
1 | g.209625900T= | CA2484299272 | LAMB3 | c.1724A= (p.Tyr575=) c.1532A= (p.Tyr511=) | |
1 | g.209625901A>C | CA344589651 | LAMB3 | c.1723T>G (p.Tyr575Asp) c.1531T>G (p.Tyr511Asp) | |
1 | g.209625901A>G | CA344589647 | LAMB3 | c.1723T>C (p.Tyr575His) c.1531T>C (p.Tyr511His) | |
1 | g.209625901A>T | CA344589649 | LAMB3 | c.1723T>A (p.Tyr575Asn) c.1531T>A (p.Tyr511Asn) | |
1 | g.209625902G>A | CA423142712 | LAMB3 | c.1722C>T (p.Arg574=) c.1530C>T (p.Arg510=) | |
1 | g.209625902G>C | CA423142710 | LAMB3 | c.1722C>G (p.Arg574=) c.1530C>G (p.Arg510=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625902G= | CA2484299273 | LAMB3 | c.1722C= (p.Arg574=) c.1530C= (p.Arg510=) | |
1 | g.209625902G>T | CA423142711 | LAMB3 | c.1722C>A (p.Arg574=) c.1530C>A (p.Arg510=) | |
1 | g.209625903C>A | CA344589653 | LAMB3 | c.1721G>T (p.Arg574Leu) c.1529G>T (p.Arg510Leu) | gnomAD v4 |
1 | g.209625903C= | CA1143719034 | LAMB3 | c.1721G= (p.Arg574=) c.1529G= (p.Arg510=) | |
1 | g.209625903C>G | CA344589654 | LAMB3 | c.1721G>C (p.Arg574Pro) c.1529G>C (p.Arg510Pro) | |
1 | g.209625903C>T | CA1375482 | LAMB3 | c.1721G>A (p.Arg574His) c.1529G>A (p.Arg510His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625904G>A | CA344589658 | LAMB3 | c.1720C>T (p.Arg574Cys) c.1528C>T (p.Arg510Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625904G>C | CA344589659 | LAMB3 | c.1720C>G (p.Arg574Gly) c.1528C>G (p.Arg510Gly) | |
1 | g.209625904G= | CA2484299274 | LAMB3 | c.1720C= (p.Arg574=) c.1528C= (p.Arg510=) | |
1 | g.209625904G>T | CA344589660 | LAMB3 | c.1720C>A (p.Arg574Ser) c.1528C>A (p.Arg510Ser) | |
1 | g.209625905A>C | CA344589661 | LAMB3 | c.1719T>G (p.Asn573Lys) c.1527T>G (p.Asn509Lys) | |
1 | g.209625905A>G | CA423142713 | LAMB3 | c.1719T>C (p.Asn573=) c.1527T>C (p.Asn509=) | dbSNP |
1 | g.209625905A>T | CA344589663 | LAMB3 | c.1719T>A (p.Asn573Lys) c.1527T>A (p.Asn509Lys) | |
1 | g.209625906T>A | CA344589665 | LAMB3 | c.1718A>T (p.Asn573Ile) c.1526A>T (p.Asn509Ile) | |
1 | g.209625906T>C | CA1375483 | LAMB3 | c.1718A>G (p.Asn573Ser) c.1526A>G (p.Asn509Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625906T>G | CA344589668 | LAMB3 | c.1718A>C (p.Asn573Thr) c.1526A>C (p.Asn509Thr) | |
1 | g.209625906T= | CA1143942780 | LAMB3 | c.1718A= (p.Asn573=) c.1526A= (p.Asn509=) | |
1 | g.209625907T>A | CA344589674 | LAMB3 | c.1717A>T (p.Asn573Tyr) c.1525A>T (p.Asn509Tyr) | |
1 | g.209625907T>C | CA344589672 | LAMB3 | c.1717A>G (p.Asn573Asp) c.1525A>G (p.Asn509Asp) | |
1 | g.209625907T>G | CA344589671 | LAMB3 | c.1717A>C (p.Asn573His) c.1525A>C (p.Asn509His) | |
1 | g.209625908A= | CA1139918980 | LAMB3 | c.1716T= (p.Cys572=) c.1524T= (p.Cys508=) | |
1 | g.209625908A>C | CA344589676 | LAMB3 | c.1716T>G (p.Cys572Trp) c.1524T>G (p.Cys508Trp) | |
1 | g.209625908A>G | CA1375484 | LAMB3 | c.1716T>C (p.Cys572=) c.1524T>C (p.Cys508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625908A>T | CA344589678 | LAMB3 | c.1716T>A (p.Cys572Ter) c.1524T>A (p.Cys508Ter) | dbSNP |
1 | g.209625909C>A | CA344589680 | LAMB3 | c.1715G>T (p.Cys572Phe) c.1523G>T (p.Cys508Phe) | |
1 | g.209625909C>G | CA344589682 | LAMB3 | c.1715G>C (p.Cys572Ser) c.1523G>C (p.Cys508Ser) | |
1 | g.209625909C>T | CA344589683 | LAMB3 | c.1715G>A (p.Cys572Tyr) c.1523G>A (p.Cys508Tyr) | |
1 | g.209625910A>C | CA344589693 | LAMB3 | c.1714T>G (p.Cys572Gly) c.1522T>G (p.Cys508Gly) | |
1 | g.209625910A>G | CA344589688 | LAMB3 | c.1714T>C (p.Cys572Arg) c.1522T>C (p.Cys508Arg) | |
1 | g.209625910A>T | CA344589691 | LAMB3 | c.1714T>A (p.Cys572Ser) c.1522T>A (p.Cys508Ser) | |
1 | g.209625911G>A | CA423142714 | LAMB3 | c.1713C>T (p.Tyr571=) c.1521C>T (p.Tyr507=) | |
1 | g.209625911G>C | CA344589696 | LAMB3 | c.1713C>G (p.Tyr571Ter) c.1521C>G (p.Tyr507Ter) | |
1 | g.209625911G>T | CA344589698 | LAMB3 | c.1713C>A (p.Tyr571Ter) c.1521C>A (p.Tyr507Ter) | |
1 | g.209625912T>A | CA344589700 | LAMB3 | c.1712A>T (p.Tyr571Phe) c.1520A>T (p.Tyr507Phe) | |
1 | g.209625912T>C | CA344589702 | LAMB3 | c.1712A>G (p.Tyr571Cys) c.1520A>G (p.Tyr507Cys) | |
1 | g.209625912T>G | CA344589704 | LAMB3 | c.1712A>C (p.Tyr571Ser) c.1520A>C (p.Tyr507Ser) | |
1 | g.209625913A>C | CA344589707 | LAMB3 | c.1711T>G (p.Tyr571Asp) c.1519T>G (p.Tyr507Asp) | gnomAD v4 |
1 | g.209625913A>G | CA344589710 | LAMB3 | c.1711T>C (p.Tyr571His) c.1519T>C (p.Tyr507His) | |
1 | g.209625913A>T | CA344589709 | LAMB3 | c.1711T>A (p.Tyr571Asn) c.1519T>A (p.Tyr507Asn) | |
1 | g.209625914G>A | CA423142715 | LAMB3 | c.1710C>T (p.Gly570=) c.1518C>T (p.Gly506=) | dbSNP |
1 | g.209625914G>C | CA423142716 | LAMB3 | c.1710C>G (p.Gly570=) c.1518C>G (p.Gly506=) | |
1 | g.209625914G= | CA2484299275 | LAMB3 | c.1710C= (p.Gly570=) c.1518C= (p.Gly506=) | |
1 | g.209625914G>T | CA423142717 | LAMB3 | c.1710C>A (p.Gly570=) c.1518C>A (p.Gly506=) | |
1 | g.209625915C>A | CA1375485 | LAMB3 | c.1709G>T (p.Gly570Val) c.1517G>T (p.Gly506Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625915C= | CA1143390653 | LAMB3 | c.1709G= (p.Gly570=) c.1517G= (p.Gly506=) | |
1 | g.209625915C>G | CA344589714 | LAMB3 | c.1709G>C (p.Gly570Ala) c.1517G>C (p.Gly506Ala) | gnomAD v4 |
1 | g.209625915C>T | CA344589715 | LAMB3 | c.1709G>A (p.Gly570Asp) c.1517G>A (p.Gly506Asp) | dbSNP gnomAD v4 |
1 | g.209625916C>A | CA344589717 | LAMB3 | c.1708G>T (p.Gly570Cys) c.1516G>T (p.Gly506Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625916C= | CA2484299276 | LAMB3 | c.1708G= (p.Gly570=) c.1516G= (p.Gly506=) | |
1 | g.209625916C>G | CA344589718 | LAMB3 | c.1708G>C (p.Gly570Arg) c.1516G>C (p.Gly506Arg) | |
1 | g.209625916C>T | CA344589719 | LAMB3 | c.1708G>A (p.Gly570Ser) c.1516G>A (p.Gly506Ser) | gnomAD v4 |
1 | g.209625917T>A | CA423142718 | LAMB3 | c.1707A>T (p.Arg569=) c.1515A>T (p.Arg505=) | |
1 | g.209625917T>C | CA423142719 | LAMB3 | c.1707A>G (p.Arg569=) c.1515A>G (p.Arg505=) | |
1 | g.209625917T>G | CA423142720 | LAMB3 | c.1707A>C (p.Arg569=) c.1515A>C (p.Arg505=) | |
1 | g.209625918C>A | CA344589722 | LAMB3 | c.1706G>T (p.Arg569Leu) c.1514G>T (p.Arg505Leu) | gnomAD v4 |
1 | g.209625918C= | CA1143619330 | LAMB3 | c.1706G= (p.Arg569=) c.1514G= (p.Arg505=) | |
1 | g.209625918C>G | CA1375487 | LAMB3 | c.1706G>C (p.Arg569Pro) c.1514G>C (p.Arg505Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625918C>T | CA1375486 | LAMB3 | c.1706G>A (p.Arg569Gln) c.1514G>A (p.Arg505Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625919G>A | CA273928 | LAMB3 | c.1705C>T (p.Arg569Ter) c.1513C>T (p.Arg505Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625919G>C | CA344589727 | LAMB3 | c.1705C>G (p.Arg569Gly) c.1513C>G (p.Arg505Gly) | gnomAD v4 |
1 | g.209625919G= | CA1143490062 | LAMB3 | c.1705C= (p.Arg569=) c.1513C= (p.Arg505=) | |
1 | g.209625919G>T | CA423142721 | LAMB3 | c.1705C>A (p.Arg569=) c.1513C>A (p.Arg505=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625920C>A | CA344589730 | LAMB3 | c.1704G>T (p.Gln568His) c.1512G>T (p.Gln504His) | |
1 | g.209625920C>G | CA344589731 | LAMB3 | c.1704G>C (p.Gln568His) c.1512G>C (p.Gln504His) | gnomAD v4 |
1 | g.209625920C>T | CA423142722 | LAMB3 | c.1704G>A (p.Gln568=) c.1512G>A (p.Gln504=) | ClinVar gnomAD v4 |
1 | g.209625921T>A | CA344589734 | LAMB3 | c.1703A>T (p.Gln568Leu) c.1511A>T (p.Gln504Leu) | |
1 | g.209625921T>C | CA1375488 | LAMB3 | c.1703A>G (p.Gln568Arg) c.1511A>G (p.Gln504Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625921T>G | CA344589736 | LAMB3 | c.1703A>C (p.Gln568Pro) c.1511A>C (p.Gln504Pro) | |
1 | g.209625921T= | CA1145228355 | LAMB3 | c.1703A= (p.Gln568=) c.1511A= (p.Gln504=) | |
1 | g.209625922G>A | CA344589738 | LAMB3 | c.1702C>T (p.Gln568Ter) c.1510C>T (p.Gln504Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.209625922G>C | CA344589740 | LAMB3 | c.1702C>G (p.Gln568Glu) c.1510C>G (p.Gln504Glu) | |
1 | g.209625922G= | CA2484299277 | LAMB3 | c.1702C= (p.Gln568=) c.1510C= (p.Gln504=) | |
1 | g.209625922G>T | CA344589742 | LAMB3 | c.1702C>A (p.Gln568Lys) c.1510C>A (p.Gln504Lys) | dbSNP |
1 | g.209625923G>A | CA1375489 | LAMB3 | c.1701C>T (p.Cys567=) c.1509C>T (p.Cys503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625923G>C | CA344589745 | LAMB3 | c.1701C>G (p.Cys567Trp) c.1509C>G (p.Cys503Trp) | |
1 | g.209625923G= | CA2484299278 | LAMB3 | c.1701C= (p.Cys567=) c.1509C= (p.Cys503=) | |
1 | g.209625923G>T | CA344589747 | LAMB3 | c.1701C>A (p.Cys567Ter) c.1509C>A (p.Cys503Ter) | |
1 | g.209625924C>A | CA344589753 | LAMB3 | c.1700G>T (p.Cys567Phe) c.1508G>T (p.Cys503Phe) | |
1 | g.209625924C>G | CA344589749 | LAMB3 | c.1700G>C (p.Cys567Ser) c.1508G>C (p.Cys503Ser) | |
1 | g.209625924C>T | CA344589751 | LAMB3 | c.1700G>A (p.Cys567Tyr) c.1508G>A (p.Cys503Tyr) | |
1 | g.209625925A>C | CA344589755 | LAMB3 | c.1699T>G (p.Cys567Gly) c.1507T>G (p.Cys503Gly) | |
1 | g.209625925A>G | CA344589756 | LAMB3 | c.1699T>C (p.Cys567Arg) c.1507T>C (p.Cys503Arg) | |
1 | g.209625925A>T | CA344589758 | LAMB3 | c.1699T>A (p.Cys567Ser) c.1507T>A (p.Cys503Ser) | |
1 | g.209625926C>A | CA344589760 | LAMB3 | c.1698G>T (p.Gln566His) c.1506G>T (p.Gln502His) | |
1 | g.209625926C>G | CA344589762 | LAMB3 | c.1698G>C (p.Gln566His) c.1506G>C (p.Gln502His) | |
1 | g.209625926C>T | CA423142723 | LAMB3 | c.1698G>A (p.Gln566=) c.1506G>A (p.Gln502=) | ClinVar dbSNP COSMIC |
1 | g.209625927T>A | CA344589765 | LAMB3 | c.1697A>T (p.Gln566Leu) c.1505A>T (p.Gln502Leu) | |
1 | g.209625927T>C | CA344589768 | LAMB3 | c.1697A>G (p.Gln566Arg) c.1505A>G (p.Gln502Arg) | |
1 | g.209625927T>G | CA344589766 | LAMB3 | c.1697A>C (p.Gln566Pro) c.1505A>C (p.Gln502Pro) | |
1 | g.209625928G>A | CA344589769 | LAMB3 | c.1696C>T (p.Gln566Ter) c.1504C>T (p.Gln502Ter) | |
1 | g.209625928G>C | CA1375490 | LAMB3 | c.1696C>G (p.Gln566Glu) c.1504C>G (p.Gln502Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625928G= | CA2484299279 | LAMB3 | c.1696C= (p.Gln566=) c.1504C= (p.Gln502=) | |
1 | g.209625928G>T | CA344589770 | LAMB3 | c.1696C>A (p.Gln566Lys) c.1504C>A (p.Gln502Lys) | |
1 | g.209625929G>A | CA423142724 | LAMB3 | c.1695C>T (p.Asp565=) c.1503C>T (p.Asp501=) | gnomAD v4 |
1 | g.209625929G>C | CA344589773 | LAMB3 | c.1695C>G (p.Asp565Glu) c.1503C>G (p.Asp501Glu) | |
1 | g.209625929G>T | CA344589774 | LAMB3 | c.1695C>A (p.Asp565Glu) c.1503C>A (p.Asp501Glu) | |
1 | g.209625930T>A | CA344589777 | LAMB3 | c.1694A>T (p.Asp565Val) c.1502A>T (p.Asp501Val) | |
1 | g.209625930T>C | CA344589778 | LAMB3 | c.1694A>G (p.Asp565Gly) c.1502A>G (p.Asp501Gly) | |
1 | g.209625930T>G | CA344589780 | LAMB3 | c.1694A>C (p.Asp565Ala) c.1502A>C (p.Asp501Ala) | gnomAD v4 |
1 | g.209625931C>A | CA344589781 | LAMB3 | c.1693G>T (p.Asp565Tyr) c.1501G>T (p.Asp501Tyr) | |
1 | g.209625931C>G | CA344589782 | LAMB3 | c.1693G>C (p.Asp565His) c.1501G>C (p.Asp501His) | |
1 | g.209625931C>T | CA344589783 | LAMB3 | c.1693G>A (p.Asp565Asn) c.1501G>A (p.Asp501Asn) | COSMIC |
1 | g.209625932A>C | CA344589784 | LAMB3 | c.1692T>G (p.Cys564Trp) c.1500T>G (p.Cys500Trp) | |
1 | g.209625932A>G | CA423142725 | LAMB3 | c.1692T>C (p.Cys564=) c.1500T>C (p.Cys500=) | |
1 | g.209625932A>T | CA344589785 | LAMB3 | c.1692T>A (p.Cys564Ter) c.1500T>A (p.Cys500Ter) | |
1 | g.209625933C>A | CA344589787 | LAMB3 | c.1691G>T (p.Cys564Phe) c.1499G>T (p.Cys500Phe) | |
1 | g.209625933C= | CA2484299280 | LAMB3 | c.1691G= (p.Cys564=) c.1499G= (p.Cys500=) | |
1 | g.209625933C>G | CA344589788 | LAMB3 | c.1691G>C (p.Cys564Ser) c.1499G>C (p.Cys500Ser) | |
1 | g.209625933C>T | CA344589790 | LAMB3 | c.1691G>A (p.Cys564Tyr) c.1499G>A (p.Cys500Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625934A>C | CA344589791 | LAMB3 | c.1690T>G (p.Cys564Gly) c.1498T>G (p.Cys500Gly) | |
1 | g.209625934A>G | CA344589793 | LAMB3 | c.1690T>C (p.Cys564Arg) c.1498T>C (p.Cys500Arg) | |
1 | g.209625934A>T | CA344589794 | LAMB3 | c.1690T>A (p.Cys564Ser) c.1498T>A (p.Cys500Ser) | |
1 | g.209625935G>A | CA423142726 | LAMB3 | c.1689C>T (p.Arg563=) c.1497C>T (p.Arg499=) | |
1 | g.209625935G>C | CA423142727 | LAMB3 | c.1689C>G (p.Arg563=) c.1497C>G (p.Arg499=) | gnomAD v4 |
1 | g.209625935G>T | CA423142728 | LAMB3 | c.1689C>A (p.Arg563=) c.1497C>A (p.Arg499=) | |
1 | g.209625936C>A | CA344589796 | LAMB3 | c.1688G>T (p.Arg563Leu) c.1496G>T (p.Arg499Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625936C= | CA2484299281 | LAMB3 | c.1688G= (p.Arg563=) c.1496G= (p.Arg499=) | |
1 | g.209625936C>G | CA1375492 | LAMB3 | c.1688G>C (p.Arg563Pro) c.1496G>C (p.Arg499Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625936C>T | CA1375491 | LAMB3 | c.1688G>A (p.Arg563His) c.1496G>A (p.Arg499His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625937G>A | CA1375493 | LAMB3 | c.1687C>T (p.Arg563Cys) c.1495C>T (p.Arg499Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625937G>C | CA344589810 | LAMB3 | c.1687C>G (p.Arg563Gly) c.1495C>G (p.Arg499Gly) | gnomAD v4 |
1 | g.209625937G= | CA2484299282 | LAMB3 | c.1687C= (p.Arg563=) c.1495C= (p.Arg499=) | |
1 | g.209625937G>T | CA344589812 | LAMB3 | c.1687C>A (p.Arg563Ser) c.1495C>A (p.Arg499Ser) | |
1 | g.209625938G>A | CA423142731 | LAMB3 | c.1686C>T (p.Pro562=) c.1494C>T (p.Pro498=) | dbSNP |
1 | g.209625938G>C | CA423142730 | LAMB3 | c.1686C>G (p.Pro562=) c.1494C>G (p.Pro498=) | |
1 | g.209625938G= | CA2484299283 | LAMB3 | c.1686C= (p.Pro562=) c.1494C= (p.Pro498=) | |
1 | g.209625938G>T | CA423142729 | LAMB3 | c.1686C>A (p.Pro562=) c.1494C>A (p.Pro498=) | |
1 | g.209625939G>A | CA344589814 | LAMB3 | c.1685C>T (p.Pro562Leu) c.1493C>T (p.Pro498Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625939G>C | CA344589816 | LAMB3 | c.1685C>G (p.Pro562Arg) c.1493C>G (p.Pro498Arg) | |
1 | g.209625939G= | CA2484299284 | LAMB3 | c.1685C= (p.Pro562=) c.1493C= (p.Pro498=) | |
1 | g.209625939G>T | CA344589813 | LAMB3 | c.1685C>A (p.Pro562His) c.1493C>A (p.Pro498His) | |
1 | g.209625940G>A | CA344589819 | LAMB3 | c.1684C>T (p.Pro562Ser) c.1492C>T (p.Pro498Ser) | gnomAD v4 |
1 | g.209625940G>C | CA344589821 | LAMB3 | c.1684C>G (p.Pro562Ala) c.1492C>G (p.Pro498Ala) | |
1 | g.209625940G>T | CA344589823 | LAMB3 | c.1684C>A (p.Pro562Thr) c.1492C>A (p.Pro498Thr) | |
1 | g.209625941C>A | CA423142732 | LAMB3 | c.1683G>T (p.Gly561=) c.1491G>T (p.Gly497=) | ClinVar |
1 | g.209625941C>G | CA423142733 | LAMB3 | c.1683G>C (p.Gly561=) c.1491G>C (p.Gly497=) | |
1 | g.209625941C>T | CA423142734 | LAMB3 | c.1683G>A (p.Gly561=) c.1491G>A (p.Gly497=) | COSMIC |
1 | g.209625942C>A | CA344589825 | LAMB3 | c.1682G>T (p.Gly561Val) c.1490G>T (p.Gly497Val) | |
1 | g.209625942C>G | CA344589826 | LAMB3 | c.1682G>C (p.Gly561Ala) c.1490G>C (p.Gly497Ala) | |
1 | g.209625942C>T | CA344589828 | LAMB3 | c.1682G>A (p.Gly561Glu) c.1490G>A (p.Gly497Glu) | |
1 | g.209625943C>A | CA344589831 | LAMB3 | c.1681G>T (p.Gly561Trp) c.1489G>T (p.Gly497Trp) | |
1 | g.209625943C= | CA1148889951 | LAMB3 | c.1681G= (p.Gly561=) c.1489G= (p.Gly497=) | |
1 | g.209625943C>G | CA344589833 | LAMB3 | c.1681G>C (p.Gly561Arg) c.1489G>C (p.Gly497Arg) | dbSNP gnomAD v4 |
1 | g.209625943C>T | CA1375494 | LAMB3 | c.1681G>A (p.Gly561Arg) c.1489G>A (p.Gly497Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625944G>A | CA1375495 | LAMB3 | c.1680C>T (p.Thr560=) c.1488C>T (p.Thr496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625944G>C | CA423142735 | LAMB3 | c.1680C>G (p.Thr560=) c.1488C>G (p.Thr496=) | gnomAD v4 COSMIC |
1 | g.209625944G= | CA1144109476 | LAMB3 | c.1680C= (p.Thr560=) c.1488C= (p.Thr496=) | |
1 | g.209625944G>T | CA423142736 | LAMB3 | c.1680C>A (p.Thr560=) c.1488C>A (p.Thr496=) | |
1 | g.209625945G>A | CA344589836 | LAMB3 | c.1679C>T (p.Thr560Ile) c.1487C>T (p.Thr496Ile) | COSMIC |
1 | g.209625945G>C | CA344589837 | LAMB3 | c.1679C>G (p.Thr560Ser) c.1487C>G (p.Thr496Ser) | |
1 | g.209625945G>T | CA344589839 | LAMB3 | c.1679C>A (p.Thr560Asn) c.1487C>A (p.Thr496Asn) |