| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15187068C>G | CA2813728308 | NOTCH3 | c.1840+37G>C (n.1840+37G>C) c.1837+37G>C (n.1837+37G>C) | |
| 19 | g.15187069del | CA993904212 | NOTCH3 | c.1840+37del (n.1840+37del) c.1837+37del (n.1837+37del) | gnomAD v3 gnomAD v4 |
| 19 | g.15187069C>T | CA2583064573 | NOTCH3 | c.1840+36G>A (n.1840+36G>A) c.1837+36G>A (n.1837+36G>A) | gnomAD v4 |
| 19 | g.15187070A>G | CA2735783658 | NOTCH3 | c.1840+35T>C (n.1840+35T>C) c.1837+35T>C (n.1837+35T>C) | dbSNP |
| 19 | g.15187071G>A | CA2576654796 | NOTCH3 | c.1840+34C>T (n.1840+34C>T) c.1837+34C>T (n.1837+34C>T) | |
| 19 | g.15187071G>C | CA2576654797 | NOTCH3 | c.1840+34C>G (n.1840+34C>G) c.1837+34C>G (n.1837+34C>G) | dbSNP |
| 19 | g.15187072G>A | CA993904214 | NOTCH3 | c.1840+33C>T (n.1840+33C>T) c.1837+33C>T (n.1837+33C>T) | dbSNP |
| 19 | g.15187072G>C | CA9263532 | NOTCH3 | c.1840+33C>G (n.1840+33C>G) c.1837+33C>G (n.1837+33C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187072G= | CA2324747600 | NOTCH3 | c.1840+33C= (n.1840+33C=) c.1837+33C= (n.1837+33C=) | |
| 19 | g.15187074G>A | CA783619196 | NOTCH3 | c.1840+31C>T (n.1840+31C>T) c.1837+31C>T (n.1837+31C>T) | dbSNP |
| 19 | g.15187074G= | CA2324747601 | NOTCH3 | c.1840+31C= (n.1840+31C=) c.1837+31C= (n.1837+31C=) | |
| 19 | g.15187075T>C | CA993904216 | NOTCH3 | c.1840+30A>G (n.1840+30A>G) c.1837+30A>G (n.1837+30A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187075T= | CA2324747602 | NOTCH3 | c.1840+30A= (n.1840+30A=) c.1837+30A= (n.1837+30A=) | |
| 19 | g.15187076G>A | CA2576654798 | NOTCH3 | c.1840+29C>T (n.1840+29C>T) c.1837+29C>T (n.1837+29C>T) | dbSNP gnomAD v4 |
| 19 | g.15187078T>A | CA2583064574 | NOTCH3 | c.1840+27A>T (n.1840+27A>T) c.1837+27A>T (n.1837+27A>T) | gnomAD v4 |
| 19 | g.15187078T>C | CA783619198 | NOTCH3 | c.1840+27A>G (n.1840+27A>G) c.1837+27A>G (n.1837+27A>G) | dbSNP |
| 19 | g.15187078T= | CA2324747603 | NOTCH3 | c.1840+27A= (n.1840+27A=) c.1837+27A= (n.1837+27A=) | |
| 19 | g.15187080T>C | CA2583064575 | NOTCH3 | c.1840+25A>G (n.1840+25A>G) c.1837+25A>G (n.1837+25A>G) | gnomAD v4 |
| 19 | g.15187082T>C | CA632128056 | NOTCH3 | c.1840+23A>G (n.1840+23A>G) c.1837+23A>G (n.1837+23A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187082T= | CA2324747604 | NOTCH3 | c.1840+23A= (n.1840+23A=) c.1837+23A= (n.1837+23A=) | |
| 19 | g.15187083C= | CA2324747605 | NOTCH3 | c.1840+22G= (n.1840+22G=) c.1837+22G= (n.1837+22G=) | |
| 19 | g.15187083C>T | CA2324747606 | NOTCH3 | c.1840+22G>A (n.1840+22G>A) c.1837+22G>A (n.1837+22G>A) | dbSNP gnomAD v4 |
| 19 | g.15187085G>A | CA2583064576 | NOTCH3 | c.1840+20C>T (n.1840+20C>T) c.1837+20C>T (n.1837+20C>T) | dbSNP gnomAD v4 |
| 19 | g.15187086C>A | CA2324747608 | NOTCH3 | c.1840+19G>T (n.1840+19G>T) c.1837+19G>T (n.1837+19G>T) | dbSNP |
| 19 | g.15187086C= | CA2324747607 | NOTCH3 | c.1840+19G= (n.1840+19G=) c.1837+19G= (n.1837+19G=) | |
| 19 | g.15187086C>T | CA10587297 | NOTCH3 | c.1840+19G>A (n.1840+19G>A) c.1837+19G>A (n.1837+19G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187087C>A | CA9263533 | NOTCH3 | c.1840+18G>T (n.1840+18G>T) c.1837+18G>T (n.1837+18G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187087C= | CA2324747609 | NOTCH3 | c.1840+18G= (n.1840+18G=) c.1837+18G= (n.1837+18G=) | |
| 19 | g.15187087C>T | CA632128057 | NOTCH3 | c.1840+18G>A (n.1840+18G>A) c.1837+18G>A (n.1837+18G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187092_15187116dup | CA2583064577 | NOTCH3 | c.1834_1840+18dup c.1831_1837+18dup | gnomAD v4 |
| 19 | g.15187088C>A | CA2735641774 | NOTCH3 | c.1840+17G>T (n.1840+17G>T) c.1837+17G>T (n.1837+17G>T) | dbSNP |
| 19 | g.15187088C= | CA2324747610 | NOTCH3 | c.1840+17G= (n.1840+17G=) c.1837+17G= (n.1837+17G=) | |
| 19 | g.15187088C>T | CA632128058 | NOTCH3 | c.1840+17G>A (n.1840+17G>A) c.1837+17G>A (n.1837+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187089C>A | CA2735783826 | NOTCH3 | c.1840+16G>T (n.1840+16G>T) c.1837+16G>T (n.1837+16G>T) | dbSNP |
| 19 | g.15187090A>G | CA2583064578 | NOTCH3 | c.1840+15T>C (n.1840+15T>C) c.1837+15T>C (n.1837+15T>C) | gnomAD v4 |
| 19 | g.15187091G>A | CA2735783828 | NOTCH3 | c.1840+14C>T (n.1840+14C>T) c.1837+14C>T (n.1837+14C>T) | dbSNP |
| 19 | g.15187091G>C | CA2735783830 | NOTCH3 | c.1840+14C>G (n.1840+14C>G) c.1837+14C>G (n.1837+14C>G) | dbSNP |
| 19 | g.15187091G>T | CA2583064579 | NOTCH3 | c.1840+14C>A (n.1840+14C>A) c.1837+14C>A (n.1837+14C>A) | gnomAD v4 |
| 19 | g.15187092C>A | CA2324747612 | NOTCH3 | c.1840+13G>T (n.1840+13G>T) c.1837+13G>T (n.1837+13G>T) | dbSNP |
| 19 | g.15187092C= | CA2324747611 | NOTCH3 | c.1840+13G= (n.1840+13G=) c.1837+13G= (n.1837+13G=) | |
| 19 | g.15187092C>T | CA632128059 | NOTCH3 | c.1840+13G>A (n.1840+13G>A) c.1837+13G>A (n.1837+13G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187096del | CA2576654799 | NOTCH3 | c.1840+13del (n.1840+13del) c.1837+13del (n.1837+13del) | gnomAD v4 |
| 19 | g.15187093C>T | CA2583064580 | NOTCH3 | c.1840+12G>A (n.1840+12G>A) c.1837+12G>A (n.1837+12G>A) | gnomAD v4 |
| 19 | g.15187095C= | CA2324747614 | NOTCH3 | c.1840+10G= (n.1840+10G=) c.1837+10G= (n.1837+10G=) | |
| 19 | g.15187095C>G | CA2580096744 | NOTCH3 | c.1840+10G>C (n.1840+10G>C) c.1837+10G>C (n.1837+10G>C) | ClinVar |
| 19 | g.15187095C>T | CA2324747613 | NOTCH3 | c.1840+10G>A (n.1840+10G>A) c.1837+10G>A (n.1837+10G>A) | dbSNP |
| 19 | g.15187096C= | CA2324747615 | NOTCH3 | c.1840+9G= (n.1840+9G=) c.1837+9G= (n.1837+9G=) | |
| 19 | g.15187096C>G | CA9263534 | NOTCH3 | c.1840+9G>C (n.1840+9G>C) c.1837+9G>C (n.1837+9G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187096C>T | CA9263535 | NOTCH3 | c.1840+9G>A (n.1840+9G>A) c.1837+9G>A (n.1837+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187097G>A | CA9263536 | NOTCH3 | c.1840+8C>T (n.1840+8C>T) c.1837+8C>T (n.1837+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187097G>C | CA2735619893 | NOTCH3 | c.1840+8C>G (n.1840+8C>G) c.1837+8C>G (n.1837+8C>G) | dbSNP |
| 19 | g.15187097G= | CA2324747616 | NOTCH3 | c.1840+8C= (n.1840+8C=) c.1837+8C= (n.1837+8C=) | |
| 19 | g.15187097G>T | CA9263537 | NOTCH3 | c.1840+8C>A (n.1840+8C>A) c.1837+8C>A (n.1837+8C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187098G>A | CA2324747618 | NOTCH3 | c.1840+7C>T (n.1840+7C>T) c.1837+7C>T (n.1837+7C>T) | dbSNP gnomAD v4 |
| 19 | g.15187098G>C | CA2735671198 | NOTCH3 | c.1840+7C>G (n.1840+7C>G) c.1837+7C>G (n.1837+7C>G) | dbSNP |
| 19 | g.15187098G= | CA2324747617 | NOTCH3 | c.1840+7C= (n.1840+7C=) c.1837+7C= (n.1837+7C=) | |
| 19 | g.15187098_15187101del | CA2576654800 | NOTCH3 | c.1840+4_1840+7del (n.1840+4_1840+7del) c.1837+4_1837+7del (n.1837+4_1837+7del) | |
| 19 | g.15187100C>A | CA2735783891 | NOTCH3 | c.1840+5G>T (n.1840+5G>T) c.1837+5G>T (n.1837+5G>T) | dbSNP |
| 19 | g.15187102C= | CA2324747619 | NOTCH3 | c.1840+3G= (n.1840+3G=) c.1837+3G= (n.1837+3G=) | |
| 19 | g.15187102C>T | CA1139666328 | NOTCH3 | c.1840+3G>A (n.1840+3G>A) c.1837+3G>A (n.1837+3G>A) | ClinVar dbSNP |
| 19 | g.15187103A>C | CA404524497 | NOTCH3 | c.1840+2T>G (n.1840+2T>G) c.1837+2T>G (n.1837+2T>G) | |
| 19 | g.15187103A>G | CA404524500 | NOTCH3 | c.1840+2T>C (n.1840+2T>C) c.1837+2T>C (n.1837+2T>C) | |
| 19 | g.15187103A>T | CA404524503 | NOTCH3 | c.1840+2T>A (n.1840+2T>A) c.1837+2T>A (n.1837+2T>A) | |
| 19 | g.15187104C>A | CA404524505 | NOTCH3 | c.1840+1G>T (n.1840+1G>T) c.1837+1G>T (n.1837+1G>T) | dbSNP gnomAD v4 |
| 19 | g.15187104C>G | CA404524507 | NOTCH3 | c.1840+1G>C (n.1840+1G>C) c.1837+1G>C (n.1837+1G>C) | |
| 19 | g.15187104C>T | CA404524510 | NOTCH3 | c.1840+1G>A (n.1840+1G>A) c.1837+1G>A (n.1837+1G>A) | |
| 19 | g.15187105C>A | CA404524517 | NOTCH3 | c.1840G>T (p.Gly614Cys) c.1837G>T (p.Gly613Cys) | |
| 19 | g.15187105C>G | CA404524515 | NOTCH3 | c.1840G>C (p.Gly614Arg) c.1837G>C (p.Gly613Arg) | |
| 19 | g.15187105C>T | CA404524513 | NOTCH3 | c.1840G>A (p.Gly614Ser) c.1837G>A (p.Gly613Ser) | |
| 19 | g.15187106T>A | CA506078402 | NOTCH3 | c.1839A>T (p.Thr613=) c.1836A>T (p.Thr612=) | |
| 19 | g.15187106T>C | CA506078403 | NOTCH3 | c.1839A>G (p.Thr613=) c.1836A>G (p.Thr612=) | |
| 19 | g.15187106T>G | CA506078404 | NOTCH3 | c.1839A>C (p.Thr613=) c.1836A>C (p.Thr612=) | |
| 19 | g.15187107G>A | CA404524521 | NOTCH3 | c.1838C>T (p.Thr613Ile) c.1835C>T (p.Thr612Ile) | |
| 19 | g.15187107G>C | CA404524523 | NOTCH3 | c.1838C>G (p.Thr613Arg) c.1835C>G (p.Thr612Arg) | dbSNP |
| 19 | g.15187107G>T | CA404524524 | NOTCH3 | c.1838C>A (p.Thr613Lys) c.1835C>A (p.Thr612Lys) | |
| 19 | g.15187108T>A | CA404524526 | NOTCH3 | c.1837A>T (p.Thr613Ser) c.1834A>T (p.Thr612Ser) | |
| 19 | g.15187108T>C | CA404524528 | NOTCH3 | c.1837A>G (p.Thr613Ala) c.1834A>G (p.Thr612Ala) | dbSNP gnomAD v2 |
| 19 | g.15187108T>G | CA404524529 | NOTCH3 | c.1837A>C (p.Thr613Pro) c.1834A>C (p.Thr612Pro) | |
| 19 | g.15187108T= | CA2324747620 | NOTCH3 | c.1837A= (p.Thr613=) c.1834A= (p.Thr612=) | |
| 19 | g.15187109G>A | CA506078406 | NOTCH3 | c.1836C>T (p.Thr612=) c.1833C>T (p.Thr611=) | |
| 19 | g.15187109G>C | CA506078407 | NOTCH3 | c.1836C>G (p.Thr612=) c.1833C>G (p.Thr611=) | |
| 19 | g.15187109G>T | CA506078408 | NOTCH3 | c.1836C>A (p.Thr612=) c.1833C>A (p.Thr611=) | |
| 19 | g.15187110G>A | CA404524532 | NOTCH3 | c.1835C>T (p.Thr612Ile) c.1832C>T (p.Thr611Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187110G>C | CA404524536 | NOTCH3 | c.1835C>G (p.Thr612Ser) c.1832C>G (p.Thr611Ser) | dbSNP gnomAD v4 |
| 19 | g.15187110G= | CA2324747621 | NOTCH3 | c.1835C= (p.Thr612=) c.1832C= (p.Thr611=) | |
| 19 | g.15187110G>T | CA404524535 | NOTCH3 | c.1835C>A (p.Thr612Asn) c.1832C>A (p.Thr611Asn) | |
| 19 | g.15187111T>A | CA404524539 | NOTCH3 | c.1834A>T (p.Thr612Ser) c.1831A>T (p.Thr611Ser) | |
| 19 | g.15187111T>C | CA404524540 | NOTCH3 | c.1834A>G (p.Thr612Ala) c.1831A>G (p.Thr611Ala) | |
| 19 | g.15187111T>G | CA404524543 | NOTCH3 | c.1834A>C (p.Thr612Pro) c.1831A>C (p.Thr611Pro) | |
| 19 | g.15187112C>A | CA506078410 | NOTCH3 | c.1833G>T (p.Gly611=) c.1830G>T (p.Gly610=) | |
| 19 | g.15187112C= | CA2324747622 | NOTCH3 | c.1833G= (p.Gly611=) c.1830G= (p.Gly610=) | |
| 19 | g.15187112C>G | CA506078409 | NOTCH3 | c.1833G>C (p.Gly611=) c.1830G>C (p.Gly610=) | dbSNP gnomAD v4 |
| 19 | g.15187112C>T | CA305774778 | NOTCH3 | c.1833G>A (p.Gly611=) c.1830G>A (p.Gly610=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187113C>A | CA404524544 | NOTCH3 | c.1832G>T (p.Gly611Val) c.1829G>T (p.Gly610Val) | |
| 19 | g.15187113C>G | CA404524547 | NOTCH3 | c.1832G>C (p.Gly611Ala) c.1829G>C (p.Gly610Ala) | |
| 19 | g.15187113C>T | CA404524558 | NOTCH3 | c.1832G>A (p.Gly611Glu) c.1829G>A (p.Gly610Glu) | gnomAD v4 COSMIC COSMIC |
| 19 | g.15187114C>A | CA404524561 | NOTCH3 | c.1831G>T (p.Gly611Trp) c.1828G>T (p.Gly610Trp) | |
| 19 | g.15187114C>G | CA404524566 | NOTCH3 | c.1831G>C (p.Gly611Arg) c.1828G>C (p.Gly610Arg) | |
| 19 | g.15187114C>T | CA404524568 | NOTCH3 | c.1831G>A (p.Gly611Arg) c.1828G>A (p.Gly610Arg) | |
| 19 | g.15187115A>C | CA506078413 | NOTCH3 | c.1830T>G (p.Ser610=) c.1827T>G (p.Ser609=) | |
| 19 | g.15187115A>G | CA506078412 | NOTCH3 | c.1830T>C (p.Ser610=) c.1827T>C (p.Ser609=) | |
| 19 | g.15187115A>T | CA506078411 | NOTCH3 | c.1830T>A (p.Ser610=) c.1827T>A (p.Ser609=) | |
| 19 | g.15187116G>A | CA404524572 | NOTCH3 | c.1829C>T (p.Ser610Phe) c.1826C>T (p.Ser609Phe) | |
| 19 | g.15187116G>C | CA404524574 | NOTCH3 | c.1829C>G (p.Ser610Cys) c.1826C>G (p.Ser609Cys) | dbSNP |
| 19 | g.15187116G>T | CA404524576 | NOTCH3 | c.1829C>A (p.Ser610Tyr) c.1826C>A (p.Ser609Tyr) | COSMIC COSMIC |
| 19 | g.15187117A>C | CA404524579 | NOTCH3 | c.1828T>G (p.Ser610Ala) c.1825T>G (p.Ser609Ala) | |
| 19 | g.15187117A>G | CA404524583 | NOTCH3 | c.1828T>C (p.Ser610Pro) c.1825T>C (p.Ser609Pro) | |
| 19 | g.15187117A>T | CA404524581 | NOTCH3 | c.1828T>A (p.Ser610Thr) c.1825T>A (p.Ser609Thr) | |
| 19 | g.15187118A>C | CA506078414 | NOTCH3 | c.1827T>G (p.Pro609=) c.1824T>G (p.Pro608=) | |
| 19 | g.15187118A>G | CA506078416 | NOTCH3 | c.1827T>C (p.Pro609=) c.1824T>C (p.Pro608=) | |
| 19 | g.15187118A>T | CA506078415 | NOTCH3 | c.1827T>A (p.Pro609=) c.1824T>A (p.Pro608=) | |
| 19 | g.15187119G>A | CA9263538 | NOTCH3 | c.1826C>T (p.Pro609Leu) c.1823C>T (p.Pro608Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187119G>C | CA404524589 | NOTCH3 | c.1826C>G (p.Pro609Arg) c.1823C>G (p.Pro608Arg) | |
| 19 | g.15187119G= | CA2324747623 | NOTCH3 | c.1826C= (p.Pro609=) c.1823C= (p.Pro608=) | |
| 19 | g.15187119G>T | CA404524592 | NOTCH3 | c.1826C>A (p.Pro609His) c.1823C>A (p.Pro608His) | |
| 19 | g.15187120G>A | CA404524595 | NOTCH3 | c.1825C>T (p.Pro609Ser) c.1822C>T (p.Pro608Ser) | dbSNP |
| 19 | g.15187120G>C | CA404524597 | NOTCH3 | c.1825C>G (p.Pro609Ala) c.1822C>G (p.Pro608Ala) | |
| 19 | g.15187120G= | CA2324747624 | NOTCH3 | c.1825C= (p.Pro609=) c.1822C= (p.Pro608=) | |
| 19 | g.15187120G>T | CA404524600 | NOTCH3 | c.1825C>A (p.Pro609Thr) c.1822C>A (p.Pro608Thr) | |
| 19 | g.15187121G>A | CA506078419 | NOTCH3 | c.1824C>T (p.Cys608=) c.1821C>T (p.Cys607=) | dbSNP gnomAD v4 |
| 19 | g.15187121G>C | CA404524602 | NOTCH3 | c.1824C>G (p.Cys608Trp) c.1821C>G (p.Cys607Trp) | gnomAD v4 |
| 19 | g.15187121G= | CA2324747625 | NOTCH3 | c.1824C= (p.Cys608=) c.1821C= (p.Cys607=) | |
| 19 | g.15187121G>T | CA404524605 | NOTCH3 | c.1824C>A (p.Cys608Ter) c.1821C>A (p.Cys607Ter) | |
| 19 | g.15187122C>A | CA404524606 | NOTCH3 | c.1823G>T (p.Cys608Phe) c.1820G>T (p.Cys607Phe) | |
| 19 | g.15187122C= | CA2324747626 | NOTCH3 | c.1823G= (p.Cys608=) c.1820G= (p.Cys607=) | |
| 19 | g.15187122C>G | CA404524608 | NOTCH3 | c.1823G>C (p.Cys608Ser) c.1820G>C (p.Cys607Ser) | |
| 19 | g.15187122C>T | CA9263539 | NOTCH3 | c.1823G>A (p.Cys608Tyr) c.1820G>A (p.Cys607Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187123A>C | CA404524615 | NOTCH3 | c.1822T>G (p.Cys608Gly) c.1819T>G (p.Cys607Gly) | |
| 19 | g.15187123A>G | CA404524613 | NOTCH3 | c.1822T>C (p.Cys608Arg) c.1819T>C (p.Cys607Arg) | ClinVar |
| 19 | g.15187123A>T | CA404524612 | NOTCH3 | c.1822T>A (p.Cys608Ser) c.1819T>A (p.Cys607Ser) | |
| 19 | g.15187124G>A | CA506078420 | NOTCH3 | c.1821C>T (p.Arg607=) c.1818C>T (p.Arg606=) | |
| 19 | g.15187124G>C | CA506078422 | NOTCH3 | c.1821C>G (p.Arg607=) c.1818C>G (p.Arg606=) | |
| 19 | g.15187124G>T | CA506078423 | NOTCH3 | c.1821C>A (p.Arg607=) c.1818C>A (p.Arg606=) | |
| 19 | g.15187125C>A | CA9263541 | NOTCH3 | c.1820G>T (p.Arg607Leu) c.1817G>T (p.Arg606Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187125C= | CA2324747627 | NOTCH3 | c.1820G= (p.Arg607=) c.1817G= (p.Arg606=) | |
| 19 | g.15187125C>G | CA404524620 | NOTCH3 | c.1820G>C (p.Arg607Pro) c.1817G>C (p.Arg606Pro) | dbSNP |
| 19 | g.15187125C>T | CA9263540 | NOTCH3 | c.1820G>A (p.Arg607His) c.1817G>A (p.Arg606His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187126G>A | CA9263542 | NOTCH3 | c.1819C>T (p.Arg607Cys) c.1816C>T (p.Arg606Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187126G>C | CA404524625 | NOTCH3 | c.1819C>G (p.Arg607Gly) c.1816C>G (p.Arg606Gly) | |
| 19 | g.15187126G= | CA2324747628 | NOTCH3 | c.1819C= (p.Arg607=) c.1816C= (p.Arg606=) | |
| 19 | g.15187126G>T | CA404524626 | NOTCH3 | c.1819C>A (p.Arg607Ser) c.1816C>A (p.Arg606Ser) | |
| 19 | g.15187127G>A | CA9263543 | NOTCH3 | c.1818C>T (p.Cys606=) c.1815C>T (p.Cys605=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187127G>C | CA404524630 | NOTCH3 | c.1818C>G (p.Cys606Trp) c.1815C>G (p.Cys605Trp) | dbSNP |
| 19 | g.15187127G= | CA2324747629 | NOTCH3 | c.1818C= (p.Cys606=) c.1815C= (p.Cys605=) | |
| 19 | g.15187127G>T | CA404524633 | NOTCH3 | c.1818C>A (p.Cys606Ter) c.1815C>A (p.Cys605Ter) | |
| 19 | g.15187128C>A | CA404524636 | NOTCH3 | c.1817G>T (p.Cys606Phe) c.1814G>T (p.Cys605Phe) | |
| 19 | g.15187128C>G | CA404524637 | NOTCH3 | c.1817G>C (p.Cys606Ser) c.1814G>C (p.Cys605Ser) | dbSNP |
| 19 | g.15187128C>T | CA404524639 | NOTCH3 | c.1817G>A (p.Cys606Tyr) c.1814G>A (p.Cys605Tyr) | |
| 19 | g.15187129A= | CA2324747630 | NOTCH3 | c.1816T= (p.Cys606=) c.1813T= (p.Cys605=) | |
| 19 | g.15187129A>C | CA404524644 | NOTCH3 | c.1816T>G (p.Cys606Gly) c.1813T>G (p.Cys605Gly) | |
| 19 | g.15187129A>G | CA404524641 | NOTCH3 | c.1816T>C (p.Cys606Arg) c.1813T>C (p.Cys605Arg) | ClinVar dbSNP |
| 19 | g.15187129A>T | CA404524640 | NOTCH3 | c.1816T>A (p.Cys606Ser) c.1813T>A (p.Cys605Ser) | |
| 19 | g.15187130G>A | CA9263544 | NOTCH3 | c.1815C>T (p.Leu605=) c.1812C>T (p.Leu604=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187130G>C | CA506078427 | NOTCH3 | c.1815C>G (p.Leu605=) c.1812C>G (p.Leu604=) | |
| 19 | g.15187130G= | CA2324747631 | NOTCH3 | c.1815C= (p.Leu605=) c.1812C= (p.Leu604=) | |
| 19 | g.15187130G>T | CA506078428 | NOTCH3 | c.1815C>A (p.Leu605=) c.1812C>A (p.Leu604=) | |
| 19 | g.15187131A>C | CA404524653 | NOTCH3 | c.1814T>G (p.Leu605Arg) c.1811T>G (p.Leu604Arg) | |
| 19 | g.15187131A>G | CA404524651 | NOTCH3 | c.1814T>C (p.Leu605Pro) c.1811T>C (p.Leu604Pro) | |
| 19 | g.15187131A>T | CA404524655 | NOTCH3 | c.1814T>A (p.Leu605His) c.1811T>A (p.Leu604His) | |
| 19 | g.15187132G>A | CA404524657 | NOTCH3 | c.1813C>T (p.Leu605Phe) c.1810C>T (p.Leu604Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187132G>C | CA404524658 | NOTCH3 | c.1813C>G (p.Leu605Val) c.1810C>G (p.Leu604Val) | |
| 19 | g.15187132G= | CA2324747632 | NOTCH3 | c.1813C= (p.Leu605=) c.1810C= (p.Leu604=) | |
| 19 | g.15187132G>T | CA404524660 | NOTCH3 | c.1813C>A (p.Leu605Ile) c.1810C>A (p.Leu604Ile) | |
| 19 | g.15187133G>A | CA506078429 | NOTCH3 | c.1812C>T (p.Tyr604=) c.1809C>T (p.Tyr603=) | gnomAD v4 |
| 19 | g.15187133G>C | CA404524661 | NOTCH3 | c.1812C>G (p.Tyr604Ter) c.1809C>G (p.Tyr603Ter) | |
| 19 | g.15187133G>T | CA404524662 | NOTCH3 | c.1812C>A (p.Tyr604Ter) c.1809C>A (p.Tyr603Ter) | |
| 19 | g.15187134T>A | CA404524665 | NOTCH3 | c.1811A>T (p.Tyr604Phe) c.1808A>T (p.Tyr603Phe) | |
| 19 | g.15187134T>C | CA404524666 | NOTCH3 | c.1811A>G (p.Tyr604Cys) c.1808A>G (p.Tyr603Cys) | |
| 19 | g.15187134T>G | CA404524668 | NOTCH3 | c.1811A>C (p.Tyr604Ser) c.1808A>C (p.Tyr603Ser) | |
| 19 | g.15187135A= | CA2324747633 | NOTCH3 | c.1810T= (p.Tyr604=) c.1807T= (p.Tyr603=) | |
| 19 | g.15187135A>C | CA404524669 | NOTCH3 | c.1810T>G (p.Tyr604Asp) c.1807T>G (p.Tyr603Asp) | dbSNP |
| 19 | g.15187135A>G | CA9263545 | NOTCH3 | c.1810T>C (p.Tyr604His) c.1807T>C (p.Tyr603His) | dbSNP ExAC |
| 19 | g.15187135A>T | CA404524671 | NOTCH3 | c.1810T>A (p.Tyr604Asn) c.1807T>A (p.Tyr603Asn) | dbSNP |
| 19 | g.15187136C>A | CA404524673 | NOTCH3 | c.1809G>T (p.Lys603Asn) c.1806G>T (p.Lys602Asn) | |
| 19 | g.15187136C>G | CA404524675 | NOTCH3 | c.1809G>C (p.Lys603Asn) c.1806G>C (p.Lys602Asn) | |
| 19 | g.15187136C>T | CA506078430 | NOTCH3 | c.1809G>A (p.Lys603=) c.1806G>A (p.Lys602=) | |
| 19 | g.15187137T>A | CA404524679 | NOTCH3 | c.1808A>T (p.Lys603Met) c.1805A>T (p.Lys602Met) | dbSNP |
| 19 | g.15187137T>C | CA16043737 | NOTCH3 | c.1808A>G (p.Lys603Arg) c.1805A>G (p.Lys602Arg) | ClinVar dbSNP |
| 19 | g.15187137T>G | CA404524676 | NOTCH3 | c.1808A>C (p.Lys603Thr) c.1805A>C (p.Lys602Thr) | |
| 19 | g.15187137T= | CA2324747634 | NOTCH3 | c.1808A= (p.Lys603=) c.1805A= (p.Lys602=) | |
| 19 | g.15187138T>A | CA404524681 | NOTCH3 | c.1807A>T (p.Lys603Ter) c.1804A>T (p.Lys602Ter) | |
| 19 | g.15187138T>C | CA404524682 | NOTCH3 | c.1807A>G (p.Lys603Glu) c.1804A>G (p.Lys602Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187138T>G | CA404524683 | NOTCH3 | c.1807A>C (p.Lys603Gln) c.1804A>C (p.Lys602Gln) | |
| 19 | g.15187138T= | CA2324747635 | NOTCH3 | c.1807A= (p.Lys603=) c.1804A= (p.Lys602=) | |
| 19 | g.15187139G>A | CA506078432 | NOTCH3 | c.1806C>T (p.Asp602=) c.1803C>T (p.Asp601=) | |
| 19 | g.15187139G>C | CA404524685 | NOTCH3 | c.1806C>G (p.Asp602Glu) c.1803C>G (p.Asp601Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187139G= | CA2324747636 | NOTCH3 | c.1806C= (p.Asp602=) c.1803C= (p.Asp601=) | |
| 19 | g.15187139G>T | CA404524686 | NOTCH3 | c.1806C>A (p.Asp602Glu) c.1803C>A (p.Asp601Glu) | dbSNP gnomAD v4 |
| 19 | g.15187140T>A | CA404524687 | NOTCH3 | c.1805A>T (p.Asp602Val) c.1802A>T (p.Asp601Val) | |
| 19 | g.15187140T>C | CA404524688 | NOTCH3 | c.1805A>G (p.Asp602Gly) c.1802A>G (p.Asp601Gly) | dbSNP |
| 19 | g.15187140T>G | CA404524690 | NOTCH3 | c.1805A>C (p.Asp602Ala) c.1802A>C (p.Asp601Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187140T= | CA2324747637 | NOTCH3 | c.1805A= (p.Asp602=) c.1802A= (p.Asp601=) | |
| 19 | g.15187141C>A | CA404524693 | NOTCH3 | c.1804G>T (p.Asp602Tyr) c.1801G>T (p.Asp601Tyr) | |
| 19 | g.15187141C>G | CA404524694 | NOTCH3 | c.1804G>C (p.Asp602His) c.1801G>C (p.Asp601His) | |
| 19 | g.15187141C>T | CA404524696 | NOTCH3 | c.1804G>A (p.Asp602Asn) c.1801G>A (p.Asp601Asn) | |
| 19 | g.15187142C>A | CA506078433 | NOTCH3 | c.1803G>T (p.Val601=) c.1800G>T (p.Val600=) | |
| 19 | g.15187142C>G | CA506078434 | NOTCH3 | c.1803G>C (p.Val601=) c.1800G>C (p.Val600=) | |
| 19 | g.15187142C>T | CA506078435 | NOTCH3 | c.1803G>A (p.Val601=) c.1800G>A (p.Val600=) | |
| 19 | g.15187143A>C | CA404524698 | NOTCH3 | c.1802T>G (p.Val601Gly) c.1799T>G (p.Val600Gly) | |
| 19 | g.15187143A>G | CA404524700 | NOTCH3 | c.1802T>C (p.Val601Ala) c.1799T>C (p.Val600Ala) | |
| 19 | g.15187143A>T | CA404524702 | NOTCH3 | c.1802T>A (p.Val601Glu) c.1799T>A (p.Val600Glu) | |
| 19 | g.15187144C>A | CA305774802 | NOTCH3 | c.1801G>T (p.Val601Leu) c.1798G>T (p.Val600Leu) | ClinVar dbSNP |
| 19 | g.15187144C= | CA2324747638 | NOTCH3 | c.1801G= (p.Val601=) c.1798G= (p.Val600=) | |
| 19 | g.15187144C>G | CA404524708 | NOTCH3 | c.1801G>C (p.Val601Leu) c.1798G>C (p.Val600Leu) | |
| 19 | g.15187144C>T | CA404524705 | NOTCH3 | c.1801G>A (p.Val601Met) c.1798G>A (p.Val600Met) | |
| 19 | g.15187145del | CA2735783946 | NOTCH3 | c.1801del (p.Val601TrpfsTer15) c.1798del (p.Val600TrpfsTer15) | dbSNP |
| 19 | g.15187145C>A | CA506078436 | NOTCH3 | c.1800G>T (p.Leu600=) c.1797G>T (p.Leu599=) | |
| 19 | g.15187145C= | CA2324747639 | NOTCH3 | c.1800G= (p.Leu600=) c.1797G= (p.Leu599=) | |
| 19 | g.15187145C>G | CA506078437 | NOTCH3 | c.1800G>C (p.Leu600=) c.1797G>C (p.Leu599=) | |
| 19 | g.15187145C>T | CA9263546 | NOTCH3 | c.1800G>A (p.Leu600=) c.1797G>A (p.Leu599=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187146A>C | CA404524712 | NOTCH3 | c.1799T>G (p.Leu600Arg) c.1796T>G (p.Leu599Arg) | |
| 19 | g.15187146A>G | CA404524713 | NOTCH3 | c.1799T>C (p.Leu600Pro) c.1796T>C (p.Leu599Pro) | |
| 19 | g.15187146A>T | CA404524715 | NOTCH3 | c.1799T>A (p.Leu600Gln) c.1796T>A (p.Leu599Gln) | |
| 19 | g.15187147G>A | CA506078440 | NOTCH3 | c.1798C>T (p.Leu600=) c.1795C>T (p.Leu599=) | gnomAD v4 |
| 19 | g.15187147G>C | CA404524716 | NOTCH3 | c.1798C>G (p.Leu600Val) c.1795C>G (p.Leu599Val) | |
| 19 | g.15187147G>T | CA404524724 | NOTCH3 | c.1798C>A (p.Leu600Met) c.1795C>A (p.Leu599Met) | |
| 19 | g.15187148G>A | CA506078442 | NOTCH3 | c.1797C>T (p.Asp599=) c.1794C>T (p.Asp598=) | gnomAD v4 |
| 19 | g.15187148G>C | CA404524726 | NOTCH3 | c.1797C>G (p.Asp599Glu) c.1794C>G (p.Asp598Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187148G= | CA2324747640 | NOTCH3 | c.1797C= (p.Asp599=) c.1794C= (p.Asp598=) | |
| 19 | g.15187148G>T | CA404524729 | NOTCH3 | c.1797C>A (p.Asp599Glu) c.1794C>A (p.Asp598Glu) | |
| 19 | g.15187149T>A | CA404524730 | NOTCH3 | c.1796A>T (p.Asp599Val) c.1793A>T (p.Asp598Val) | dbSNP |
| 19 | g.15187149T>C | CA404524731 | NOTCH3 | c.1796A>G (p.Asp599Gly) c.1793A>G (p.Asp598Gly) | |
| 19 | g.15187149T>G | CA404524733 | NOTCH3 | c.1796A>C (p.Asp599Ala) c.1793A>C (p.Asp598Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187149T= | CA2324747641 | NOTCH3 | c.1796A= (p.Asp599=) c.1793A= (p.Asp598=) | |
| 19 | g.15187150C>A | CA404524738 | NOTCH3 | c.1795G>T (p.Asp599Tyr) c.1792G>T (p.Asp598Tyr) | |
| 19 | g.15187150C>G | CA404524736 | NOTCH3 | c.1795G>C (p.Asp599His) c.1792G>C (p.Asp598His) | |
| 19 | g.15187150C>T | CA404524735 | NOTCH3 | c.1795G>A (p.Asp599Asn) c.1792G>A (p.Asp598Asn) | |
| 19 | g.15187151T>A | CA506078443 | NOTCH3 | c.1794A>T (p.Leu598=) c.1791A>T (p.Leu597=) | |
| 19 | g.15187151T>C | CA506078447 | NOTCH3 | c.1794A>G (p.Leu598=) c.1791A>G (p.Leu597=) | |
| 19 | g.15187151T>G | CA506078445 | NOTCH3 | c.1794A>C (p.Leu598=) c.1791A>C (p.Leu597=) | |
| 19 | g.15187152A>C | CA404524740 | NOTCH3 | c.1793T>G (p.Leu598Arg) c.1790T>G (p.Leu597Arg) | |
| 19 | g.15187152A>G | CA404524743 | NOTCH3 | c.1793T>C (p.Leu598Pro) c.1790T>C (p.Leu597Pro) | |
| 19 | g.15187152A>T | CA404524745 | NOTCH3 | c.1793T>A (p.Leu598Gln) c.1790T>A (p.Leu597Gln) | dbSNP |
| 19 | g.15187153G>A | CA305774806 | NOTCH3 | c.1792C>T (p.Leu598=) c.1789C>T (p.Leu597=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187153G>C | CA404524748 | NOTCH3 | c.1792C>G (p.Leu598Val) c.1789C>G (p.Leu597Val) | |
| 19 | g.15187153G= | CA2324747642 | NOTCH3 | c.1792C= (p.Leu598=) c.1789C= (p.Leu597=) | |
| 19 | g.15187153G>T | CA404524750 | NOTCH3 | c.1792C>A (p.Leu598Ile) c.1789C>A (p.Leu597Ile) | |
| 19 | g.15187154G>A | CA506078449 | NOTCH3 | c.1791C>T (p.Cys597=) c.1788C>T (p.Cys596=) | |
| 19 | g.15187154G>C | CA404524754 | NOTCH3 | c.1791C>G (p.Cys597Trp) c.1788C>G (p.Cys596Trp) | ClinVar |
| 19 | g.15187154G>T | CA404524756 | NOTCH3 | c.1791C>A (p.Cys597Ter) c.1788C>A (p.Cys596Ter) | |
| 19 | g.15187155C>A | CA404524759 | NOTCH3 | c.1790G>T (p.Cys597Phe) c.1787G>T (p.Cys596Phe) | |
| 19 | g.15187155C= | CA2324747643 | NOTCH3 | c.1790G= (p.Cys597=) c.1787G= (p.Cys596=) | |
| 19 | g.15187155C>G | CA404524760 | NOTCH3 | c.1790G>C (p.Cys597Ser) c.1787G>C (p.Cys596Ser) | ClinVar COSMIC COSMIC |
| 19 | g.15187155C>T | CA404524762 | NOTCH3 | c.1790G>A (p.Cys597Tyr) c.1787G>A (p.Cys596Tyr) | ClinVar dbSNP |
| 19 | g.15187156A>C | CA404524764 | NOTCH3 | c.1789T>G (p.Cys597Gly) c.1786T>G (p.Cys596Gly) | |
| 19 | g.15187156A>G | CA404524766 | NOTCH3 | c.1789T>C (p.Cys597Arg) c.1786T>C (p.Cys596Arg) | |
| 19 | g.15187156A>T | CA404524769 | NOTCH3 | c.1789T>A (p.Cys597Ser) c.1786T>A (p.Cys596Ser) | dbSNP gnomAD v4 |
| 19 | g.15187156_15187157delinsAT | CA2324747644 | NOTCH3 | c.1788_1789delinsAT (p.Lys596=) c.1785_1786delinsAT (p.Lys595=) | |
| 19 | g.15187157T>A | CA404524773 | NOTCH3 | c.1788A>T (p.Lys596Asn) c.1785A>T (p.Lys595Asn) | gnomAD v4 |
| 19 | g.15187157T>C | CA506078450 | NOTCH3 | c.1788A>G (p.Lys596=) c.1785A>G (p.Lys595=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187157T>G | CA404524772 | NOTCH3 | c.1788A>C (p.Lys596Asn) c.1785A>C (p.Lys595Asn) | |
| 19 | g.15187157T= | CA2324747645 | NOTCH3 | c.1788A= (p.Lys596=) c.1785A= (p.Lys595=) | |
| 19 | g.15187159del | CA632128068 | NOTCH3 | c.1788del (p.Lys596AsnfsTer3) c.1785del (p.Lys595AsnfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187158T>A | CA404524776 | NOTCH3 | c.1787A>T (p.Lys596Ile) c.1784A>T (p.Lys595Ile) | dbSNP |
| 19 | g.15187158T>C | CA404524778 | NOTCH3 | c.1787A>G (p.Lys596Arg) c.1784A>G (p.Lys595Arg) | |
| 19 | g.15187158T>G | CA404524779 | NOTCH3 | c.1787A>C (p.Lys596Thr) c.1784A>C (p.Lys595Thr) | |
| 19 | g.15187159T>A | CA404524782 | NOTCH3 | c.1786A>T (p.Lys596Ter) c.1783A>T (p.Lys595Ter) | |
| 19 | g.15187159T>C | CA404524783 | NOTCH3 | c.1786A>G (p.Lys596Glu) c.1783A>G (p.Lys595Glu) | |
| 19 | g.15187159T>G | CA404524786 | NOTCH3 | c.1786A>C (p.Lys596Gln) c.1783A>C (p.Lys595Gln) | |
| 19 | g.15187160G>A | CA506078453 | NOTCH3 | c.1785C>T (p.Gly595=) c.1782C>T (p.Gly594=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.15187160G>C | CA506078451 | NOTCH3 | c.1785C>G (p.Gly595=) c.1782C>G (p.Gly594=) | dbSNP |
| 19 | g.15187160G>T | CA506078452 | NOTCH3 | c.1785C>A (p.Gly595=) c.1782C>A (p.Gly594=) | |
| 19 | g.15187161C>A | CA404524789 | NOTCH3 | c.1784G>T (p.Gly595Val) c.1781G>T (p.Gly594Val) | |
| 19 | g.15187161C= | CA2324747646 | NOTCH3 | c.1784G= (p.Gly595=) c.1781G= (p.Gly594=) | |
| 19 | g.15187161C>G | CA404524792 | NOTCH3 | c.1784G>C (p.Gly595Ala) c.1781G>C (p.Gly594Ala) | |
| 19 | g.15187161C>T | CA404524793 | NOTCH3 | c.1784G>A (p.Gly595Asp) c.1781G>A (p.Gly594Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187162C>A | CA404524795 | NOTCH3 | c.1783G>T (p.Gly595Cys) c.1780G>T (p.Gly594Cys) | |
| 19 | g.15187162C= | CA2324747647 | NOTCH3 | c.1783G= (p.Gly595=) c.1780G= (p.Gly594=) | |
| 19 | g.15187162C>G | CA404524797 | NOTCH3 | c.1783G>C (p.Gly595Arg) c.1780G>C (p.Gly594Arg) | |
| 19 | g.15187162C>T | CA9263547 | NOTCH3 | c.1783G>A (p.Gly595Ser) c.1780G>A (p.Gly594Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187163G>A | CA9263548 | NOTCH3 | c.1782C>T (p.Gly594=) c.1779C>T (p.Gly593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187163G>C | CA506078454 | NOTCH3 | c.1782C>G (p.Gly594=) c.1779C>G (p.Gly593=) | dbSNP |
| 19 | g.15187163G= | CA2324747648 | NOTCH3 | c.1782C= (p.Gly594=) c.1779C= (p.Gly593=) | |
| 19 | g.15187163G>T | CA506078455 | NOTCH3 | c.1782C>A (p.Gly594=) c.1779C>A (p.Gly593=) | |
| 19 | g.15187164C>A | CA404524809 | NOTCH3 | c.1781G>T (p.Gly594Val) c.1778G>T (p.Gly593Val) | dbSNP |
| 19 | g.15187164C= | CA2324747649 | NOTCH3 | c.1781G= (p.Gly594=) c.1778G= (p.Gly593=) | |
| 19 | g.15187164C>G | CA404524807 | NOTCH3 | c.1781G>C (p.Gly594Ala) c.1778G>C (p.Gly593Ala) | |
| 19 | g.15187164C>T | CA404524803 | NOTCH3 | c.1781G>A (p.Gly594Asp) c.1778G>A (p.Gly593Asp) | dbSNP COSMIC COSMIC |
| 19 | g.15187165C>A | CA404524813 | NOTCH3 | c.1780G>T (p.Gly594Cys) c.1777G>T (p.Gly593Cys) | |
| 19 | g.15187165C= | CA2324747650 | NOTCH3 | c.1780G= (p.Gly594=) c.1777G= (p.Gly593=) | |
| 19 | g.15187165C>G | CA404524816 | NOTCH3 | c.1780G>C (p.Gly594Arg) c.1777G>C (p.Gly593Arg) | |
| 19 | g.15187165C>T | CA305774823 | NOTCH3 | c.1780G>A (p.Gly594Ser) c.1777G>A (p.Gly593Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187166A>C | CA404524821 | NOTCH3 | c.1779T>G (p.His593Gln) c.1776T>G (p.His592Gln) | |
| 19 | g.15187166A>G | CA506078456 | NOTCH3 | c.1779T>C (p.His593=) c.1776T>C (p.His592=) | |
| 19 | g.15187166A>T | CA404524822 | NOTCH3 | c.1779T>A (p.His593Gln) c.1776T>A (p.His592Gln) | |
| 19 | g.15187167T>A | CA404524825 | NOTCH3 | c.1778A>T (p.His593Leu) c.1775A>T (p.His592Leu) | |
| 19 | g.15187167T>C | CA404524827 | NOTCH3 | c.1778A>G (p.His593Arg) c.1775A>G (p.His592Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187167T>G | CA404524828 | NOTCH3 | c.1778A>C (p.His593Pro) c.1775A>C (p.His592Pro) | |
| 19 | g.15187167T= | CA2324747651 | NOTCH3 | c.1778A= (p.His593=) c.1775A= (p.His592=) | |
| 19 | g.15187168G>A | CA404524830 | NOTCH3 | c.1777C>T (p.His593Tyr) c.1774C>T (p.His592Tyr) | |
| 19 | g.15187168G>C | CA404524832 | NOTCH3 | c.1777C>G (p.His593Asp) c.1774C>G (p.His592Asp) | |
| 19 | g.15187168G>T | CA404524834 | NOTCH3 | c.1777C>A (p.His593Asn) c.1774C>A (p.His592Asn) |