UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101765045_101765067del | CA2740092581 | GNPTAB | c.1858_1880del (p.Thr620AlafsTer27) c.1777_1799del (p.Thr593AlafsTer27) c.1642_1664del (p.Thr548AlafsTer27) c.631_653del (p.Thr211AlafsTer27) | ClinVar |
| 12 | g.101765051A= | CA2058955669 | GNPTAB | c.1866T= (p.Asp622=) c.1785T= (p.Asp595=) c.1650T= (p.Asp550=) c.639T= (p.Asp213=) | |
| 12 | g.101765051A>C | CA386299555 | GNPTAB | c.1866T>G (p.Asp622Glu) c.1785T>G (p.Asp595Glu) c.1650T>G (p.Asp550Glu) c.639T>G (p.Asp213Glu) | |
| 12 | g.101765051A>G | CA481577141 | GNPTAB | c.1866T>C (p.Asp622=) c.1785T>C (p.Asp595=) c.1650T>C (p.Asp550=) c.639T>C (p.Asp213=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101765051A>T | CA386299557 | GNPTAB | c.1866T>A (p.Asp622Glu) c.1785T>A (p.Asp595Glu) c.1650T>A (p.Asp550Glu) c.639T>A (p.Asp213Glu) | |
| 12 | g.101765052T>A | CA386299559 | GNPTAB | c.1865A>T (p.Asp622Val) c.1784A>T (p.Asp595Val) c.1649A>T (p.Asp550Val) c.638A>T (p.Asp213Val) | |
| 12 | g.101765052T>C | CA386299561 | GNPTAB | c.1865A>G (p.Asp622Gly) c.1784A>G (p.Asp595Gly) c.1649A>G (p.Asp550Gly) c.638A>G (p.Asp213Gly) | |
| 12 | g.101765052T>G | CA386299562 | GNPTAB | c.1865A>C (p.Asp622Ala) c.1784A>C (p.Asp595Ala) c.1649A>C (p.Asp550Ala) c.638A>C (p.Asp213Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765052T= | CA2058955670 | GNPTAB | c.1865A= (p.Asp622=) c.1784A= (p.Asp595=) c.1649A= (p.Asp550=) c.638A= (p.Asp213=) | |
| 12 | g.101765053C>A | CA386299564 | GNPTAB | c.1864G>T (p.Asp622Tyr) c.1783G>T (p.Asp595Tyr) c.1648G>T (p.Asp550Tyr) c.637G>T (p.Asp213Tyr) | |
| 12 | g.101765053C= | CA2058955671 | GNPTAB | c.1864G= (p.Asp622=) c.1783G= (p.Asp595=) c.1648G= (p.Asp550=) c.637G= (p.Asp213=) | |
| 12 | g.101765053C>G | CA386299565 | GNPTAB | c.1864G>C (p.Asp622His) c.1783G>C (p.Asp595His) c.1648G>C (p.Asp550His) c.637G>C (p.Asp213His) | |
| 12 | g.101765053C>T | CA386299567 | GNPTAB | c.1864G>A (p.Asp622Asn) c.1783G>A (p.Asp595Asn) c.1648G>A (p.Asp550Asn) c.637G>A (p.Asp213Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765054G>A | CA6746515 | GNPTAB | c.1863C>T (p.Asn621=) c.1782C>T (p.Asn594=) c.1647C>T (p.Asn549=) c.636C>T (p.Asn212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101765054G>C | CA386299571 | GNPTAB | c.1863C>G (p.Asn621Lys) c.1782C>G (p.Asn594Lys) c.1647C>G (p.Asn549Lys) c.636C>G (p.Asn212Lys) | |
| 12 | g.101765054G= | CA2058955672 | GNPTAB | c.1863C= (p.Asn621=) c.1782C= (p.Asn594=) c.1647C= (p.Asn549=) c.636C= (p.Asn212=) | |
| 12 | g.101765054G>T | CA386299570 | GNPTAB | c.1863C>A (p.Asn621Lys) c.1782C>A (p.Asn594Lys) c.1647C>A (p.Asn549Lys) c.636C>A (p.Asn212Lys) | |
| 12 | g.101765055T>A | CA386299574 | GNPTAB | c.1862A>T (p.Asn621Ile) c.1781A>T (p.Asn594Ile) c.1646A>T (p.Asn549Ile) c.635A>T (p.Asn212Ile) | gnomAD v4 |
| 12 | g.101765055T>C | CA6746516 | GNPTAB | c.1862A>G (p.Asn621Ser) c.1781A>G (p.Asn594Ser) c.1646A>G (p.Asn549Ser) c.635A>G (p.Asn212Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765055T>G | CA386299576 | GNPTAB | c.1862A>C (p.Asn621Thr) c.1781A>C (p.Asn594Thr) c.1646A>C (p.Asn549Thr) c.635A>C (p.Asn212Thr) | |
| 12 | g.101765055T= | CA2058955673 | GNPTAB | c.1862A= (p.Asn621=) c.1781A= (p.Asn594=) c.1646A= (p.Asn549=) c.635A= (p.Asn212=) | |
| 12 | g.101765056T>A | CA386299578 | GNPTAB | c.1861A>T (p.Asn621Tyr) c.1780A>T (p.Asn594Tyr) c.1645A>T (p.Asn549Tyr) c.634A>T (p.Asn212Tyr) | |
| 12 | g.101765056T>C | CA386299579 | GNPTAB | c.1861A>G (p.Asn621Asp) c.1780A>G (p.Asn594Asp) c.1645A>G (p.Asn549Asp) c.634A>G (p.Asn212Asp) | |
| 12 | g.101765056T>G | CA386299580 | GNPTAB | c.1861A>C (p.Asn621His) c.1780A>C (p.Asn594His) c.1645A>C (p.Asn549His) c.634A>C (p.Asn212His) | |
| 12 | g.101765057T>A | CA481577146 | GNPTAB | c.1860A>T (p.Thr620=) c.1779A>T (p.Thr593=) c.1644A>T (p.Thr548=) c.633A>T (p.Thr211=) | |
| 12 | g.101765057T>C | CA481577144 | GNPTAB | c.1860A>G (p.Thr620=) c.1779A>G (p.Thr593=) c.1644A>G (p.Thr548=) c.633A>G (p.Thr211=) | |
| 12 | g.101765057T>G | CA481577145 | GNPTAB | c.1860A>C (p.Thr620=) c.1779A>C (p.Thr593=) c.1644A>C (p.Thr548=) c.633A>C (p.Thr211=) | dbSNP |
| 12 | g.101765057T= | CA2058955674 | GNPTAB | c.1860A= (p.Thr620=) c.1779A= (p.Thr593=) c.1644A= (p.Thr548=) c.633A= (p.Thr211=) | |
| 12 | g.101765058G>A | CA386299582 | GNPTAB | c.1859C>T (p.Thr620Ile) c.1778C>T (p.Thr593Ile) c.1643C>T (p.Thr548Ile) c.632C>T (p.Thr211Ile) | |
| 12 | g.101765058G>C | CA386299584 | GNPTAB | c.1859C>G (p.Thr620Arg) c.1778C>G (p.Thr593Arg) c.1643C>G (p.Thr548Arg) c.632C>G (p.Thr211Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765058G= | CA2058955675 | GNPTAB | c.1859C= (p.Thr620=) c.1778C= (p.Thr593=) c.1643C= (p.Thr548=) c.632C= (p.Thr211=) | |
| 12 | g.101765058G>T | CA386299585 | GNPTAB | c.1859C>A (p.Thr620Lys) c.1778C>A (p.Thr593Lys) c.1643C>A (p.Thr548Lys) c.632C>A (p.Thr211Lys) | |
| 12 | g.101765059T>A | CA386299587 | GNPTAB | c.1858A>T (p.Thr620Ser) c.1777A>T (p.Thr593Ser) c.1642A>T (p.Thr548Ser) c.631A>T (p.Thr211Ser) | |
| 12 | g.101765059T>C | CA386299589 | GNPTAB | c.1858A>G (p.Thr620Ala) c.1777A>G (p.Thr593Ala) c.1642A>G (p.Thr548Ala) c.631A>G (p.Thr211Ala) | |
| 12 | g.101765059T>G | CA386299590 | GNPTAB | c.1858A>C (p.Thr620Pro) c.1777A>C (p.Thr593Pro) c.1642A>C (p.Thr548Pro) c.631A>C (p.Thr211Pro) | |
| 12 | g.101765060A= | CA2058955676 | GNPTAB | c.1857T= (p.Asn619=) c.1776T= (p.Asn592=) c.1641T= (p.Asn547=) c.630T= (p.Asn210=) | |
| 12 | g.101765060A>C | CA386299593 | GNPTAB | c.1857T>G (p.Asn619Lys) c.1776T>G (p.Asn592Lys) c.1641T>G (p.Asn547Lys) c.630T>G (p.Asn210Lys) | |
| 12 | g.101765060A>G | CA481577150 | GNPTAB | c.1857T>C (p.Asn619=) c.1776T>C (p.Asn592=) c.1641T>C (p.Asn547=) c.630T>C (p.Asn210=) | ClinVar dbSNP |
| 12 | g.101765060A>T | CA386299595 | GNPTAB | c.1857T>A (p.Asn619Lys) c.1776T>A (p.Asn592Lys) c.1641T>A (p.Asn547Lys) c.630T>A (p.Asn210Lys) | |
| 12 | g.101765061T>A | CA386299597 | GNPTAB | c.1856A>T (p.Asn619Ile) c.1775A>T (p.Asn592Ile) c.1640A>T (p.Asn547Ile) c.629A>T (p.Asn210Ile) | gnomAD v4 |
| 12 | g.101765061T>C | CA6746517 | GNPTAB | c.1856A>G (p.Asn619Ser) c.1775A>G (p.Asn592Ser) c.1640A>G (p.Asn547Ser) c.629A>G (p.Asn210Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765061T>G | CA386299599 | GNPTAB | c.1856A>C (p.Asn619Thr) c.1775A>C (p.Asn592Thr) c.1640A>C (p.Asn547Thr) c.629A>C (p.Asn210Thr) | |
| 12 | g.101765061T= | CA2058955677 | GNPTAB | c.1856A= (p.Asn619=) c.1775A= (p.Asn592=) c.1640A= (p.Asn547=) c.629A= (p.Asn210=) | |
| 12 | g.101765062T>A | CA386299602 | GNPTAB | c.1855A>T (p.Asn619Tyr) c.1774A>T (p.Asn592Tyr) c.1639A>T (p.Asn547Tyr) c.628A>T (p.Asn210Tyr) | |
| 12 | g.101765062T>C | CA386299603 | GNPTAB | c.1855A>G (p.Asn619Asp) c.1774A>G (p.Asn592Asp) c.1639A>G (p.Asn547Asp) c.628A>G (p.Asn210Asp) | gnomAD v4 |
| 12 | g.101765062T>G | CA386299604 | GNPTAB | c.1855A>C (p.Asn619His) c.1774A>C (p.Asn592His) c.1639A>C (p.Asn547His) c.628A>C (p.Asn210His) | |
| 12 | g.101765063T>A | CA386299605 | GNPTAB | c.1854A>T (p.Gln618His) c.1773A>T (p.Gln591His) c.1638A>T (p.Gln546His) c.627A>T (p.Gln209His) | |
| 12 | g.101765063T>C | CA481577151 | GNPTAB | c.1854A>G (p.Gln618=) c.1773A>G (p.Gln591=) c.1638A>G (p.Gln546=) c.627A>G (p.Gln209=) | |
| 12 | g.101765063T>G | CA386299606 | GNPTAB | c.1854A>C (p.Gln618His) c.1773A>C (p.Gln591His) c.1638A>C (p.Gln546His) c.627A>C (p.Gln209His) | |
| 12 | g.101765064T>A | CA386299608 | GNPTAB | c.1853A>T (p.Gln618Leu) c.1772A>T (p.Gln591Leu) c.1637A>T (p.Gln546Leu) c.626A>T (p.Gln209Leu) | |
| 12 | g.101765064T>C | CA386299610 | GNPTAB | c.1853A>G (p.Gln618Arg) c.1772A>G (p.Gln591Arg) c.1637A>G (p.Gln546Arg) c.626A>G (p.Gln209Arg) | dbSNP gnomAD v4 |
| 12 | g.101765064T>G | CA386299611 | GNPTAB | c.1853A>C (p.Gln618Pro) c.1772A>C (p.Gln591Pro) c.1637A>C (p.Gln546Pro) c.626A>C (p.Gln209Pro) | |
| 12 | g.101765064T= | CA2058955678 | GNPTAB | c.1853A= (p.Gln618=) c.1772A= (p.Gln591=) c.1637A= (p.Gln546=) c.626A= (p.Gln209=) | |
| 12 | g.101765065G>A | CA386299612 | GNPTAB | c.1852C>T (p.Gln618Ter) c.1771C>T (p.Gln591Ter) c.1636C>T (p.Gln546Ter) c.625C>T (p.Gln209Ter) | |
| 12 | g.101765065G>C | CA386299613 | GNPTAB | c.1852C>G (p.Gln618Glu) c.1771C>G (p.Gln591Glu) c.1636C>G (p.Gln546Glu) c.625C>G (p.Gln209Glu) | |
| 12 | g.101765065G>T | CA386299614 | GNPTAB | c.1852C>A (p.Gln618Lys) c.1771C>A (p.Gln591Lys) c.1636C>A (p.Gln546Lys) c.625C>A (p.Gln209Lys) | |
| 12 | g.101765066A>C | CA386299615 | GNPTAB | c.1851T>G (p.Phe617Leu) c.1770T>G (p.Phe590Leu) c.1635T>G (p.Phe545Leu) c.624T>G (p.Phe208Leu) | |
| 12 | g.101765066A>G | CA481577153 | GNPTAB | c.1851T>C (p.Phe617=) c.1770T>C (p.Phe590=) c.1635T>C (p.Phe545=) c.624T>C (p.Phe208=) | |
| 12 | g.101765066A>T | CA386299617 | GNPTAB | c.1851T>A (p.Phe617Leu) c.1770T>A (p.Phe590Leu) c.1635T>A (p.Phe545Leu) c.624T>A (p.Phe208Leu) | |
| 12 | g.101765067A>C | CA386299618 | GNPTAB | c.1850T>G (p.Phe617Cys) c.1769T>G (p.Phe590Cys) c.1634T>G (p.Phe545Cys) c.623T>G (p.Phe208Cys) | |
| 12 | g.101765067A>G | CA386299621 | GNPTAB | c.1850T>C (p.Phe617Ser) c.1769T>C (p.Phe590Ser) c.1634T>C (p.Phe545Ser) c.623T>C (p.Phe208Ser) | |
| 12 | g.101765067A>T | CA386299620 | GNPTAB | c.1850T>A (p.Phe617Tyr) c.1769T>A (p.Phe590Tyr) c.1634T>A (p.Phe545Tyr) c.623T>A (p.Phe208Tyr) | |
| 12 | g.101765068A>C | CA386299623 | GNPTAB | c.1849T>G (p.Phe617Val) c.1768T>G (p.Phe590Val) c.1633T>G (p.Phe545Val) c.622T>G (p.Phe208Val) | |
| 12 | g.101765068A>G | CA386299624 | GNPTAB | c.1849T>C (p.Phe617Leu) c.1768T>C (p.Phe590Leu) c.1633T>C (p.Phe545Leu) c.622T>C (p.Phe208Leu) | |
| 12 | g.101765068A>T | CA386299628 | GNPTAB | c.1849T>A (p.Phe617Ile) c.1768T>A (p.Phe590Ile) c.1633T>A (p.Phe545Ile) c.622T>A (p.Phe208Ile) | |
| 12 | g.101765069C>A | CA481577155 | GNPTAB | c.1848G>T (p.Thr616=) c.1767G>T (p.Thr589=) c.1632G>T (p.Thr544=) c.621G>T (p.Thr207=) | |
| 12 | g.101765069C= | CA2058955679 | GNPTAB | c.1848G= (p.Thr616=) c.1767G= (p.Thr589=) c.1632G= (p.Thr544=) c.621G= (p.Thr207=) | |
| 12 | g.101765069C>G | CA481577157 | GNPTAB | c.1848G>C (p.Thr616=) c.1767G>C (p.Thr589=) c.1632G>C (p.Thr544=) c.621G>C (p.Thr207=) | ClinVar |
| 12 | g.101765069C>T | CA6746518 | GNPTAB | c.1848G>A (p.Thr616=) c.1767G>A (p.Thr589=) c.1632G>A (p.Thr544=) c.621G>A (p.Thr207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765070G>A | CA6746519 | GNPTAB | c.1847C>T (p.Thr616Met) c.1766C>T (p.Thr589Met) c.1631C>T (p.Thr544Met) c.620C>T (p.Thr207Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765070G>C | CA6746520 | GNPTAB | c.1847C>G (p.Thr616Arg) c.1766C>G (p.Thr589Arg) c.1631C>G (p.Thr544Arg) c.620C>G (p.Thr207Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101765070G= | CA2058955680 | GNPTAB | c.1847C= (p.Thr616=) c.1766C= (p.Thr589=) c.1631C= (p.Thr544=) c.620C= (p.Thr207=) | |
| 12 | g.101765070G>T | CA386299631 | GNPTAB | c.1847C>A (p.Thr616Lys) c.1766C>A (p.Thr589Lys) c.1631C>A (p.Thr544Lys) c.620C>A (p.Thr207Lys) | dbSNP gnomAD v4 |
| 12 | g.101765071T>A | CA386299632 | GNPTAB | c.1846A>T (p.Thr616Ser) c.1765A>T (p.Thr589Ser) c.1630A>T (p.Thr544Ser) c.619A>T (p.Thr207Ser) | |
| 12 | g.101765071T>C | CA386299634 | GNPTAB | c.1846A>G (p.Thr616Ala) c.1765A>G (p.Thr589Ala) c.1630A>G (p.Thr544Ala) c.619A>G (p.Thr207Ala) | gnomAD v4 |
| 12 | g.101765071T>G | CA386299636 | GNPTAB | c.1846A>C (p.Thr616Pro) c.1765A>C (p.Thr589Pro) c.1630A>C (p.Thr544Pro) c.619A>C (p.Thr207Pro) | gnomAD v4 |
| 12 | g.101765072G>A | CA481577161 | GNPTAB | c.1845C>T (p.Leu615=) c.1764C>T (p.Leu588=) c.1629C>T (p.Leu543=) c.618C>T (p.Leu206=) | |
| 12 | g.101765072G>C | CA481577162 | GNPTAB | c.1845C>G (p.Leu615=) c.1764C>G (p.Leu588=) c.1629C>G (p.Leu543=) c.618C>G (p.Leu206=) | gnomAD v4 |
| 12 | g.101765072G>T | CA481577163 | GNPTAB | c.1845C>A (p.Leu615=) c.1764C>A (p.Leu588=) c.1629C>A (p.Leu543=) c.618C>A (p.Leu206=) | |
| 12 | g.101765073A>C | CA386299640 | GNPTAB | c.1844T>G (p.Leu615Arg) c.1763T>G (p.Leu588Arg) c.1628T>G (p.Leu543Arg) c.617T>G (p.Leu206Arg) | |
| 12 | g.101765073A>G | CA386299639 | GNPTAB | c.1844T>C (p.Leu615Pro) c.1763T>C (p.Leu588Pro) c.1628T>C (p.Leu543Pro) c.617T>C (p.Leu206Pro) | |
| 12 | g.101765073A>T | CA386299638 | GNPTAB | c.1844T>A (p.Leu615His) c.1763T>A (p.Leu588His) c.1628T>A (p.Leu543His) c.617T>A (p.Leu206His) | |
| 12 | g.101765074G>A | CA386299642 | GNPTAB | c.1843C>T (p.Leu615Phe) c.1762C>T (p.Leu588Phe) c.1627C>T (p.Leu543Phe) c.616C>T (p.Leu206Phe) | gnomAD v4 |
| 12 | g.101765074G>C | CA386299643 | GNPTAB | c.1843C>G (p.Leu615Val) c.1762C>G (p.Leu588Val) c.1627C>G (p.Leu543Val) c.616C>G (p.Leu206Val) | |
| 12 | g.101765074G>T | CA386299645 | GNPTAB | c.1843C>A (p.Leu615Ile) c.1762C>A (p.Leu588Ile) c.1627C>A (p.Leu543Ile) c.616C>A (p.Leu206Ile) | gnomAD v4 |
| 12 | g.101765075A>C | CA386299646 | GNPTAB | c.1842T>G (p.Asn614Lys) c.1761T>G (p.Asn587Lys) c.1626T>G (p.Asn542Lys) c.615T>G (p.Asn205Lys) | |
| 12 | g.101765075A>G | CA481577165 | GNPTAB | c.1842T>C (p.Asn614=) c.1761T>C (p.Asn587=) c.1626T>C (p.Asn542=) c.615T>C (p.Asn205=) | |
| 12 | g.101765075A>T | CA386299647 | GNPTAB | c.1842T>A (p.Asn614Lys) c.1761T>A (p.Asn587Lys) c.1626T>A (p.Asn542Lys) c.615T>A (p.Asn205Lys) | |
| 12 | g.101765076T>A | CA386299649 | GNPTAB | c.1841A>T (p.Asn614Ile) c.1760A>T (p.Asn587Ile) c.1625A>T (p.Asn542Ile) c.614A>T (p.Asn205Ile) | |
| 12 | g.101765076T>C | CA386299651 | GNPTAB | c.1841A>G (p.Asn614Ser) c.1760A>G (p.Asn587Ser) c.1625A>G (p.Asn542Ser) c.614A>G (p.Asn205Ser) | |
| 12 | g.101765076T>G | CA386299653 | GNPTAB | c.1841A>C (p.Asn614Thr) c.1760A>C (p.Asn587Thr) c.1625A>C (p.Asn542Thr) c.614A>C (p.Asn205Thr) | |
| 12 | g.101765077T>A | CA386299654 | GNPTAB | c.1840A>T (p.Asn614Tyr) c.1759A>T (p.Asn587Tyr) c.1624A>T (p.Asn542Tyr) c.613A>T (p.Asn205Tyr) | |
| 12 | g.101765077T>C | CA386299656 | GNPTAB | c.1840A>G (p.Asn614Asp) c.1759A>G (p.Asn587Asp) c.1624A>G (p.Asn542Asp) c.613A>G (p.Asn205Asp) | |
| 12 | g.101765077T>G | CA386299658 | GNPTAB | c.1840A>C (p.Asn614His) c.1759A>C (p.Asn587His) c.1624A>C (p.Asn542His) c.613A>C (p.Asn205His) | |
| 12 | g.101765078A= | CA2058955681 | GNPTAB | c.1839T= (p.Phe613=) c.1758T= (p.Phe586=) c.1623T= (p.Phe541=) c.612T= (p.Phe204=) | |
| 12 | g.101765078A>C | CA242457017 | GNPTAB | c.1839T>G (p.Phe613Leu) c.1758T>G (p.Phe586Leu) c.1623T>G (p.Phe541Leu) c.612T>G (p.Phe204Leu) | dbSNP gnomAD v4 |
| 12 | g.101765078A>G | CA481577166 | GNPTAB | c.1839T>C (p.Phe613=) c.1758T>C (p.Phe586=) c.1623T>C (p.Phe541=) c.612T>C (p.Phe204=) | gnomAD v4 |
| 12 | g.101765078A>T | CA386299660 | GNPTAB | c.1839T>A (p.Phe613Leu) c.1758T>A (p.Phe586Leu) c.1623T>A (p.Phe541Leu) c.612T>A (p.Phe204Leu) | |
| 12 | g.101765079A>C | CA386299666 | GNPTAB | c.1838T>G (p.Phe613Cys) c.1757T>G (p.Phe586Cys) c.1622T>G (p.Phe541Cys) c.611T>G (p.Phe204Cys) | |
| 12 | g.101765079A>G | CA386299662 | GNPTAB | c.1838T>C (p.Phe613Ser) c.1757T>C (p.Phe586Ser) c.1622T>C (p.Phe541Ser) c.611T>C (p.Phe204Ser) | |
| 12 | g.101765079A>T | CA386299664 | GNPTAB | c.1838T>A (p.Phe613Tyr) c.1757T>A (p.Phe586Tyr) c.1622T>A (p.Phe541Tyr) c.611T>A (p.Phe204Tyr) | |
| 12 | g.101765080A>C | CA386299668 | GNPTAB | c.1837T>G (p.Phe613Val) c.1756T>G (p.Phe586Val) c.1621T>G (p.Phe541Val) c.610T>G (p.Phe204Val) | |
| 12 | g.101765080A>G | CA386299669 | GNPTAB | c.1837T>C (p.Phe613Leu) c.1756T>C (p.Phe586Leu) c.1621T>C (p.Phe541Leu) c.610T>C (p.Phe204Leu) | gnomAD v4 |
| 12 | g.101765080A>T | CA386299671 | GNPTAB | c.1837T>A (p.Phe613Ile) c.1756T>A (p.Phe586Ile) c.1621T>A (p.Phe541Ile) c.610T>A (p.Phe204Ile) | |
| 12 | g.101765081A>C | CA386299673 | GNPTAB | c.1836T>G (p.His612Gln) c.1755T>G (p.His585Gln) c.1620T>G (p.His540Gln) c.609T>G (p.His203Gln) | |
| 12 | g.101765081A>G | CA481577169 | GNPTAB | c.1836T>C (p.His612=) c.1755T>C (p.His585=) c.1620T>C (p.His540=) c.609T>C (p.His203=) | |
| 12 | g.101765081A>T | CA386299675 | GNPTAB | c.1836T>A (p.His612Gln) c.1755T>A (p.His585Gln) c.1620T>A (p.His540Gln) c.609T>A (p.His203Gln) | |
| 12 | g.101765082T>A | CA386299677 | GNPTAB | c.1835A>T (p.His612Leu) c.1754A>T (p.His585Leu) c.1619A>T (p.His540Leu) c.608A>T (p.His203Leu) | |
| 12 | g.101765082T>C | CA242457021 | GNPTAB | c.1835A>G (p.His612Arg) c.1754A>G (p.His585Arg) c.1619A>G (p.His540Arg) c.608A>G (p.His203Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765082T>G | CA386299678 | GNPTAB | c.1835A>C (p.His612Pro) c.1754A>C (p.His585Pro) c.1619A>C (p.His540Pro) c.608A>C (p.His203Pro) | |
| 12 | g.101765082T= | CA2058955682 | GNPTAB | c.1835A= (p.His612=) c.1754A= (p.His585=) c.1619A= (p.His540=) c.608A= (p.His203=) | |
| 12 | g.101765083G>A | CA386299680 | GNPTAB | c.1834C>T (p.His612Tyr) c.1753C>T (p.His585Tyr) c.1618C>T (p.His540Tyr) c.607C>T (p.His203Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765083G>C | CA386299682 | GNPTAB | c.1834C>G (p.His612Asp) c.1753C>G (p.His585Asp) c.1618C>G (p.His540Asp) c.607C>G (p.His203Asp) | |
| 12 | g.101765083G= | CA2058955683 | GNPTAB | c.1834C= (p.His612=) c.1753C= (p.His585=) c.1618C= (p.His540=) c.607C= (p.His203=) | |
| 12 | g.101765083G>T | CA386299683 | GNPTAB | c.1834C>A (p.His612Asn) c.1753C>A (p.His585Asn) c.1618C>A (p.His540Asn) c.607C>A (p.His203Asn) | |
| 12 | g.101765084T>A | CA481577171 | GNPTAB | c.1833A>T (p.Ile611=) c.1752A>T (p.Ile584=) c.1617A>T (p.Ile539=) c.606A>T (p.Ile202=) | |
| 12 | g.101765084T>C | CA386299684 | GNPTAB | c.1833A>G (p.Ile611Met) c.1752A>G (p.Ile584Met) c.1617A>G (p.Ile539Met) c.606A>G (p.Ile202Met) | |
| 12 | g.101765084T>G | CA481577172 | GNPTAB | c.1833A>C (p.Ile611=) c.1752A>C (p.Ile584=) c.1617A>C (p.Ile539=) c.606A>C (p.Ile202=) | |
| 12 | g.101765085A>C | CA386299688 | GNPTAB | c.1832T>G (p.Ile611Arg) c.1751T>G (p.Ile584Arg) c.1616T>G (p.Ile539Arg) c.605T>G (p.Ile202Arg) | |
| 12 | g.101765085A>G | CA386299690 | GNPTAB | c.1832T>C (p.Ile611Thr) c.1751T>C (p.Ile584Thr) c.1616T>C (p.Ile539Thr) c.605T>C (p.Ile202Thr) | |
| 12 | g.101765085A>T | CA386299686 | GNPTAB | c.1832T>A (p.Ile611Lys) c.1751T>A (p.Ile584Lys) c.1616T>A (p.Ile539Lys) c.605T>A (p.Ile202Lys) | |
| 12 | g.101765086T>A | CA386299692 | GNPTAB | c.1831A>T (p.Ile611Leu) c.1750A>T (p.Ile584Leu) c.1615A>T (p.Ile539Leu) c.604A>T (p.Ile202Leu) | |
| 12 | g.101765086T>C | CA386299695 | GNPTAB | c.1831A>G (p.Ile611Val) c.1750A>G (p.Ile584Val) c.1615A>G (p.Ile539Val) c.604A>G (p.Ile202Val) | |
| 12 | g.101765086T>G | CA386299693 | GNPTAB | c.1831A>C (p.Ile611Leu) c.1750A>C (p.Ile584Leu) c.1615A>C (p.Ile539Leu) c.604A>C (p.Ile202Leu) | |
| 12 | g.101765087del | CA2573053586 | GNPTAB | c.1831del (p.Ile611TyrfsTer19) c.1750del (p.Ile584TyrfsTer19) c.1615del (p.Ile539TyrfsTer19) c.604del (p.Ile202TyrfsTer19) | ClinVar dbSNP |
| 12 | g.101765087T>A | CA481577174 | GNPTAB | c.1830A>T (p.Thr610=) c.1749A>T (p.Thr583=) c.1614A>T (p.Thr538=) c.603A>T (p.Thr201=) | |
| 12 | g.101765087T>C | CA6746521 | GNPTAB | c.1830A>G (p.Thr610=) c.1749A>G (p.Thr583=) c.1614A>G (p.Thr538=) c.603A>G (p.Thr201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101765087T>G | CA481577175 | GNPTAB | c.1830A>C (p.Thr610=) c.1749A>C (p.Thr583=) c.1614A>C (p.Thr538=) c.603A>C (p.Thr201=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765087T= | CA2058955684 | GNPTAB | c.1830A= (p.Thr610=) c.1749A= (p.Thr583=) c.1614A= (p.Thr538=) c.603A= (p.Thr201=) | |
| 12 | g.101765088G>A | CA386299700 | GNPTAB | c.1829C>T (p.Thr610Ile) c.1748C>T (p.Thr583Ile) c.1613C>T (p.Thr538Ile) c.602C>T (p.Thr201Ile) | gnomAD v4 |
| 12 | g.101765088G>C | CA386299698 | GNPTAB | c.1829C>G (p.Thr610Arg) c.1748C>G (p.Thr583Arg) c.1613C>G (p.Thr538Arg) c.602C>G (p.Thr201Arg) | |
| 12 | g.101765088G>T | CA386299702 | GNPTAB | c.1829C>A (p.Thr610Lys) c.1748C>A (p.Thr583Lys) c.1613C>A (p.Thr538Lys) c.602C>A (p.Thr201Lys) | |
| 12 | g.101765089T>A | CA386299703 | GNPTAB | c.1828A>T (p.Thr610Ser) c.1747A>T (p.Thr583Ser) c.1612A>T (p.Thr538Ser) c.601A>T (p.Thr201Ser) | |
| 12 | g.101765089T>C | CA386299706 | GNPTAB | c.1828A>G (p.Thr610Ala) c.1747A>G (p.Thr583Ala) c.1612A>G (p.Thr538Ala) c.601A>G (p.Thr201Ala) | |
| 12 | g.101765089T>G | CA386299704 | GNPTAB | c.1828A>C (p.Thr610Pro) c.1747A>C (p.Thr583Pro) c.1612A>C (p.Thr538Pro) c.601A>C (p.Thr201Pro) | |
| 12 | g.101765090G>A | CA481577177 | GNPTAB | c.1827C>T (p.Thr609=) c.1746C>T (p.Thr582=) c.1611C>T (p.Thr537=) c.600C>T (p.Thr200=) | |
| 12 | g.101765090G>C | CA481577178 | GNPTAB | c.1827C>G (p.Thr609=) c.1746C>G (p.Thr582=) c.1611C>G (p.Thr537=) c.600C>G (p.Thr200=) | |
| 12 | g.101765090G>T | CA481577179 | GNPTAB | c.1827C>A (p.Thr609=) c.1746C>A (p.Thr582=) c.1611C>A (p.Thr537=) c.600C>A (p.Thr200=) | gnomAD v4 |
| 12 | g.101765090_101765091insTT | CA2797214446 | GNPTAB | c.1826_1827insAA (p.Ile611GlnfsTer20) c.1745_1746insAA (p.Ile584GlnfsTer20) c.1610_1611insAA (p.Ile539GlnfsTer20) c.599_600insAA (p.Ile202GlnfsTer20) | |
| 12 | g.101765091G>A | CA386299708 | GNPTAB | c.1826C>T (p.Thr609Ile) c.1745C>T (p.Thr582Ile) c.1610C>T (p.Thr537Ile) c.599C>T (p.Thr200Ile) | |
| 12 | g.101765091G>C | CA386299711 | GNPTAB | c.1826C>G (p.Thr609Ser) c.1745C>G (p.Thr582Ser) c.1610C>G (p.Thr537Ser) c.599C>G (p.Thr200Ser) | |
| 12 | g.101765091G= | CA2058955685 | GNPTAB | c.1826C= (p.Thr609=) c.1745C= (p.Thr582=) c.1610C= (p.Thr537=) c.599C= (p.Thr200=) | |
| 12 | g.101765091G>T | CA6746522 | GNPTAB | c.1826C>A (p.Thr609Asn) c.1745C>A (p.Thr582Asn) c.1610C>A (p.Thr537Asn) c.599C>A (p.Thr200Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765091_101765092insGGTGTGTT | CA2797214448 | GNPTAB | c.1825_1826insAACACACC (p.Thr609LysfsTer24) c.1744_1745insAACACACC (p.Thr582LysfsTer24) c.1609_1610insAACACACC (p.Thr537LysfsTer24) c.598_599insAACACACC (p.Thr200LysfsTer24) | |
| 12 | g.101765092T>A | CA386299713 | GNPTAB | c.1825A>T (p.Thr609Ser) c.1744A>T (p.Thr582Ser) c.1609A>T (p.Thr537Ser) c.598A>T (p.Thr200Ser) | |
| 12 | g.101765092T>C | CA386299716 | GNPTAB | c.1825A>G (p.Thr609Ala) c.1744A>G (p.Thr582Ala) c.1609A>G (p.Thr537Ala) c.598A>G (p.Thr200Ala) | |
| 12 | g.101765092T>G | CA386299714 | GNPTAB | c.1825A>C (p.Thr609Pro) c.1744A>C (p.Thr582Pro) c.1609A>C (p.Thr537Pro) c.598A>C (p.Thr200Pro) | |
| 12 | g.101765092_101765095dup | CA2620447360 | GNPTAB | c.1822_1825dup (p.Thr609SerfsTer7) c.1741_1744dup (p.Thr582SerfsTer7) c.1606_1609dup (p.Thr537SerfsTer7) c.595_598dup (p.Thr200SerfsTer7) | gnomAD v4 |
| 12 | g.101765093G>A | CA481577183 | GNPTAB | c.1824C>T (p.Ala608=) c.1743C>T (p.Ala581=) c.1608C>T (p.Ala536=) c.597C>T (p.Ala199=) | ClinVar |
| 12 | g.101765093G>C | CA481577184 | GNPTAB | c.1824C>G (p.Ala608=) c.1743C>G (p.Ala581=) c.1608C>G (p.Ala536=) c.597C>G (p.Ala199=) | |
| 12 | g.101765093G>T | CA481577185 | GNPTAB | c.1824C>A (p.Ala608=) c.1743C>A (p.Ala581=) c.1608C>A (p.Ala536=) c.597C>A (p.Ala199=) | |
| 12 | g.101765094G>A | CA242457067 | GNPTAB | c.1823C>T (p.Ala608Val) c.1742C>T (p.Ala581Val) c.1607C>T (p.Ala536Val) c.596C>T (p.Ala199Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765094G>C | CA386299719 | GNPTAB | c.1823C>G (p.Ala608Gly) c.1742C>G (p.Ala581Gly) c.1607C>G (p.Ala536Gly) c.596C>G (p.Ala199Gly) | |
| 12 | g.101765094G= | CA2058955686 | GNPTAB | c.1823C= (p.Ala608=) c.1742C= (p.Ala581=) c.1607C= (p.Ala536=) c.596C= (p.Ala199=) | |
| 12 | g.101765094G>T | CA386299720 | GNPTAB | c.1823C>A (p.Ala608Asp) c.1742C>A (p.Ala581Asp) c.1607C>A (p.Ala536Asp) c.596C>A (p.Ala199Asp) | |
| 12 | g.101765095C>A | CA386299722 | GNPTAB | c.1822G>T (p.Ala608Ser) c.1741G>T (p.Ala581Ser) c.1606G>T (p.Ala536Ser) c.595G>T (p.Ala199Ser) | |
| 12 | g.101765095C>G | CA386299723 | GNPTAB | c.1822G>C (p.Ala608Pro) c.1741G>C (p.Ala581Pro) c.1606G>C (p.Ala536Pro) c.595G>C (p.Ala199Pro) | |
| 12 | g.101765095C>T | CA386299725 | GNPTAB | c.1822G>A (p.Ala608Thr) c.1741G>A (p.Ala581Thr) c.1606G>A (p.Ala536Thr) c.595G>A (p.Ala199Thr) | gnomAD v4 |
| 12 | g.101765096A>C | CA386299726 | GNPTAB | c.1821T>G (p.Asn607Lys) c.1740T>G (p.Asn580Lys) c.1605T>G (p.Asn535Lys) c.594T>G (p.Asn198Lys) | |
| 12 | g.101765096A>G | CA481577188 | GNPTAB | c.1821T>C (p.Asn607=) c.1740T>C (p.Asn580=) c.1605T>C (p.Asn535=) c.594T>C (p.Asn198=) | |
| 12 | g.101765096A>T | CA386299727 | GNPTAB | c.1821T>A (p.Asn607Lys) c.1740T>A (p.Asn580Lys) c.1605T>A (p.Asn535Lys) c.594T>A (p.Asn198Lys) | |
| 12 | g.101765097T>A | CA386299728 | GNPTAB | c.1820A>T (p.Asn607Ile) c.1739A>T (p.Asn580Ile) c.1604A>T (p.Asn535Ile) c.593A>T (p.Asn198Ile) | |
| 12 | g.101765097T>C | CA6746523 | GNPTAB | c.1820A>G (p.Asn607Ser) c.1739A>G (p.Asn580Ser) c.1604A>G (p.Asn535Ser) c.593A>G (p.Asn198Ser) | dbSNP ExAC gnomAD v4 |
| 12 | g.101765097T>G | CA386299730 | GNPTAB | c.1820A>C (p.Asn607Thr) c.1739A>C (p.Asn580Thr) c.1604A>C (p.Asn535Thr) c.593A>C (p.Asn198Thr) | |
| 12 | g.101765097T= | CA2058955687 | GNPTAB | c.1820A= (p.Asn607=) c.1739A= (p.Asn580=) c.1604A= (p.Asn535=) c.593A= (p.Asn198=) | |
| 12 | g.101765098T>A | CA386299732 | GNPTAB | c.1819A>T (p.Asn607Tyr) c.1738A>T (p.Asn580Tyr) c.1603A>T (p.Asn535Tyr) c.592A>T (p.Asn198Tyr) | |
| 12 | g.101765098T>C | CA386299736 | GNPTAB | c.1819A>G (p.Asn607Asp) c.1738A>G (p.Asn580Asp) c.1603A>G (p.Asn535Asp) c.592A>G (p.Asn198Asp) | |
| 12 | g.101765098T>G | CA386299734 | GNPTAB | c.1819A>C (p.Asn607His) c.1738A>C (p.Asn580His) c.1603A>C (p.Asn535His) c.592A>C (p.Asn198His) | |
| 12 | g.101765099C>A | CA386299737 | GNPTAB | c.1818G>T (p.Met606Ile) c.1737G>T (p.Met579Ile) c.1602G>T (p.Met534Ile) c.591G>T (p.Met197Ile) | gnomAD v4 |
| 12 | g.101765099C= | CA2058955688 | GNPTAB | c.1818G= (p.Met606=) c.1737G= (p.Met579=) c.1602G= (p.Met534=) c.591G= (p.Met197=) | |
| 12 | g.101765099C>G | CA386299738 | GNPTAB | c.1818G>C (p.Met606Ile) c.1737G>C (p.Met579Ile) c.1602G>C (p.Met534Ile) c.591G>C (p.Met197Ile) | |
| 12 | g.101765099C>T | CA6746524 | GNPTAB | c.1818G>A (p.Met606Ile) c.1737G>A (p.Met579Ile) c.1602G>A (p.Met534Ile) c.591G>A (p.Met197Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765100A>C | CA386299739 | GNPTAB | c.1817T>G (p.Met606Arg) c.1736T>G (p.Met579Arg) c.1601T>G (p.Met534Arg) c.590T>G (p.Met197Arg) | |
| 12 | g.101765100A>G | CA386299740 | GNPTAB | c.1817T>C (p.Met606Thr) c.1736T>C (p.Met579Thr) c.1601T>C (p.Met534Thr) c.590T>C (p.Met197Thr) | |
| 12 | g.101765100A>T | CA386299741 | GNPTAB | c.1817T>A (p.Met606Lys) c.1736T>A (p.Met579Lys) c.1601T>A (p.Met534Lys) c.590T>A (p.Met197Lys) | |
| 12 | g.101765101T>A | CA386299742 | GNPTAB | c.1816A>T (p.Met606Leu) c.1735A>T (p.Met579Leu) c.1600A>T (p.Met534Leu) c.589A>T (p.Met197Leu) | |
| 12 | g.101765101T>C | CA386299743 | GNPTAB | c.1816A>G (p.Met606Val) c.1735A>G (p.Met579Val) c.1600A>G (p.Met534Val) c.589A>G (p.Met197Val) | gnomAD v4 |
| 12 | g.101765101T>G | CA386299744 | GNPTAB | c.1816A>C (p.Met606Leu) c.1735A>C (p.Met579Leu) c.1600A>C (p.Met534Leu) c.589A>C (p.Met197Leu) | |
| 12 | g.101765102T>A | CA481577190 | GNPTAB | c.1815A>T (p.Gly605=) c.1734A>T (p.Gly578=) c.1599A>T (p.Gly533=) c.588A>T (p.Gly196=) | |
| 12 | g.101765102T>C | CA481577191 | GNPTAB | c.1815A>G (p.Gly605=) c.1734A>G (p.Gly578=) c.1599A>G (p.Gly533=) c.588A>G (p.Gly196=) | |
| 12 | g.101765102T>G | CA481577192 | GNPTAB | c.1815A>C (p.Gly605=) c.1734A>C (p.Gly578=) c.1599A>C (p.Gly533=) c.588A>C (p.Gly196=) | |
| 12 | g.101765103C>A | CA386299746 | GNPTAB | c.1814G>T (p.Gly605Val) c.1733G>T (p.Gly578Val) c.1598G>T (p.Gly533Val) c.587G>T (p.Gly196Val) | |
| 12 | g.101765103C>G | CA386299747 | GNPTAB | c.1814G>C (p.Gly605Ala) c.1733G>C (p.Gly578Ala) c.1598G>C (p.Gly533Ala) c.587G>C (p.Gly196Ala) | |
| 12 | g.101765103C>T | CA386299745 | GNPTAB | c.1814G>A (p.Gly605Glu) c.1733G>A (p.Gly578Glu) c.1598G>A (p.Gly533Glu) c.587G>A (p.Gly196Glu) | COSMIC |
| 12 | g.101765104C>A | CA386299748 | GNPTAB | c.1813G>T (p.Gly605Ter) c.1732G>T (p.Gly578Ter) c.1597G>T (p.Gly533Ter) c.586G>T (p.Gly196Ter) | |
| 12 | g.101765104C>G | CA386299749 | GNPTAB | c.1813G>C (p.Gly605Arg) c.1732G>C (p.Gly578Arg) c.1597G>C (p.Gly533Arg) c.586G>C (p.Gly196Arg) | |
| 12 | g.101765104C>T | CA386299750 | GNPTAB | c.1813G>A (p.Gly605Arg) c.1732G>A (p.Gly578Arg) c.1597G>A (p.Gly533Arg) c.586G>A (p.Gly196Arg) | |
| 12 | g.101765105A>C | CA386299751 | GNPTAB | c.1812T>G (p.Ser604Arg) c.1731T>G (p.Ser577Arg) c.1596T>G (p.Ser532Arg) c.585T>G (p.Ser195Arg) | |
| 12 | g.101765105A>G | CA481577624 | GNPTAB | c.1812T>C (p.Ser604=) c.1731T>C (p.Ser577=) c.1596T>C (p.Ser532=) c.585T>C (p.Ser195=) | gnomAD v4 |
| 12 | g.101765105A>T | CA386299752 | GNPTAB | c.1812T>A (p.Ser604Arg) c.1731T>A (p.Ser577Arg) c.1596T>A (p.Ser532Arg) c.585T>A (p.Ser195Arg) | |
| 12 | g.101765106C>A | CA386299755 | GNPTAB | c.1811G>T (p.Ser604Ile) c.1730G>T (p.Ser577Ile) c.1595G>T (p.Ser532Ile) c.584G>T (p.Ser195Ile) | |
| 12 | g.101765106C>G | CA386299753 | GNPTAB | c.1811G>C (p.Ser604Thr) c.1730G>C (p.Ser577Thr) c.1595G>C (p.Ser532Thr) c.584G>C (p.Ser195Thr) | |
| 12 | g.101765106C>T | CA386299754 | GNPTAB | c.1811G>A (p.Ser604Asn) c.1730G>A (p.Ser577Asn) c.1595G>A (p.Ser532Asn) c.584G>A (p.Ser195Asn) | |
| 12 | g.101765107T>A | CA386299756 | GNPTAB | c.1810A>T (p.Ser604Cys) c.1729A>T (p.Ser577Cys) c.1594A>T (p.Ser532Cys) c.583A>T (p.Ser195Cys) | |
| 12 | g.101765107T>C | CA6746525 | GNPTAB | c.1810A>G (p.Ser604Gly) c.1729A>G (p.Ser577Gly) c.1594A>G (p.Ser532Gly) c.583A>G (p.Ser195Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765107T>G | CA386299757 | GNPTAB | c.1810A>C (p.Ser604Arg) c.1729A>C (p.Ser577Arg) c.1594A>C (p.Ser532Arg) c.583A>C (p.Ser195Arg) | |
| 12 | g.101765107T= | CA2058955689 | GNPTAB | c.1810A= (p.Ser604=) c.1729A= (p.Ser577=) c.1594A= (p.Ser532=) c.583A= (p.Ser195=) | |
| 12 | g.101765108G>A | CA481577625 | GNPTAB | c.1809C>T (p.His603=) c.1728C>T (p.His576=) c.1593C>T (p.His531=) c.582C>T (p.His194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765108G>C | CA386299758 | GNPTAB | c.1809C>G (p.His603Gln) c.1728C>G (p.His576Gln) c.1593C>G (p.His531Gln) c.582C>G (p.His194Gln) | gnomAD v4 |
| 12 | g.101765108G= | CA2058955690 | GNPTAB | c.1809C= (p.His603=) c.1728C= (p.His576=) c.1593C= (p.His531=) c.582C= (p.His194=) | |
| 12 | g.101765108G>T | CA386299759 | GNPTAB | c.1809C>A (p.His603Gln) c.1728C>A (p.His576Gln) c.1593C>A (p.His531Gln) c.582C>A (p.His194Gln) | |
| 12 | g.101765109T>A | CA386299760 | GNPTAB | c.1808A>T (p.His603Leu) c.1727A>T (p.His576Leu) c.1592A>T (p.His531Leu) c.581A>T (p.His194Leu) | |
| 12 | g.101765109T>C | CA386299762 | GNPTAB | c.1808A>G (p.His603Arg) c.1727A>G (p.His576Arg) c.1592A>G (p.His531Arg) c.581A>G (p.His194Arg) | |
| 12 | g.101765109T>G | CA386299761 | GNPTAB | c.1808A>C (p.His603Pro) c.1727A>C (p.His576Pro) c.1592A>C (p.His531Pro) c.581A>C (p.His194Pro) | |
| 12 | g.101765110G>A | CA386299763 | GNPTAB | c.1807C>T (p.His603Tyr) c.1726C>T (p.His576Tyr) c.1591C>T (p.His531Tyr) c.580C>T (p.His194Tyr) | |
| 12 | g.101765110G>C | CA386299764 | GNPTAB | c.1807C>G (p.His603Asp) c.1726C>G (p.His576Asp) c.1591C>G (p.His531Asp) c.580C>G (p.His194Asp) | |
| 12 | g.101765110G>T | CA386299765 | GNPTAB | c.1807C>A (p.His603Asn) c.1726C>A (p.His576Asn) c.1591C>A (p.His531Asn) c.580C>A (p.His194Asn) | |
| 12 | g.101765111C>A | CA386299766 | GNPTAB | c.1806G>T (p.Met602Ile) c.1725G>T (p.Met575Ile) c.1590G>T (p.Met530Ile) c.579G>T (p.Met193Ile) | |
| 12 | g.101765111C>G | CA386299767 | GNPTAB | c.1806G>C (p.Met602Ile) c.1725G>C (p.Met575Ile) c.1590G>C (p.Met530Ile) c.579G>C (p.Met193Ile) | |
| 12 | g.101765111C>T | CA386299768 | GNPTAB | c.1806G>A (p.Met602Ile) c.1725G>A (p.Met575Ile) c.1590G>A (p.Met530Ile) c.579G>A (p.Met193Ile) | |
| 12 | g.101765112A= | CA2058955691 | GNPTAB | c.1805T= (p.Met602=) c.1724T= (p.Met575=) c.1589T= (p.Met530=) c.578T= (p.Met193=) | |
| 12 | g.101765112A>C | CA386299769 | GNPTAB | c.1805T>G (p.Met602Arg) c.1724T>G (p.Met575Arg) c.1589T>G (p.Met530Arg) c.578T>G (p.Met193Arg) | gnomAD v4 |
| 12 | g.101765112A>G | CA386299770 | GNPTAB | c.1805T>C (p.Met602Thr) c.1724T>C (p.Met575Thr) c.1589T>C (p.Met530Thr) c.578T>C (p.Met193Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765112A>T | CA386299771 | GNPTAB | c.1805T>A (p.Met602Lys) c.1724T>A (p.Met575Lys) c.1589T>A (p.Met530Lys) c.578T>A (p.Met193Lys) | |
| 12 | g.101765113T>A | CA386299772 | GNPTAB | c.1804A>T (p.Met602Leu) c.1723A>T (p.Met575Leu) c.1588A>T (p.Met530Leu) c.577A>T (p.Met193Leu) | |
| 12 | g.101765113T>C | CA386299773 | GNPTAB | c.1804A>G (p.Met602Val) c.1723A>G (p.Met575Val) c.1588A>G (p.Met530Val) c.577A>G (p.Met193Val) | |
| 12 | g.101765113T>G | CA386299774 | GNPTAB | c.1804A>C (p.Met602Leu) c.1723A>C (p.Met575Leu) c.1588A>C (p.Met530Leu) c.577A>C (p.Met193Leu) | |
| 12 | g.101765114T>A | CA481577626 | GNPTAB | c.1803A>T (p.Ile601=) c.1722A>T (p.Ile574=) c.1587A>T (p.Ile529=) c.576A>T (p.Ile192=) | |
| 12 | g.101765114T>C | CA386299775 | GNPTAB | c.1803A>G (p.Ile601Met) c.1722A>G (p.Ile574Met) c.1587A>G (p.Ile529Met) c.576A>G (p.Ile192Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765114T>G | CA481577627 | GNPTAB | c.1803A>C (p.Ile601=) c.1722A>C (p.Ile574=) c.1587A>C (p.Ile529=) c.576A>C (p.Ile192=) | |
| 12 | g.101765114T= | CA2058955692 | GNPTAB | c.1803A= (p.Ile601=) c.1722A= (p.Ile574=) c.1587A= (p.Ile529=) c.576A= (p.Ile192=) | |
| 12 | g.101765115A>C | CA386299777 | GNPTAB | c.1802T>G (p.Ile601Arg) c.1721T>G (p.Ile574Arg) c.1586T>G (p.Ile529Arg) c.575T>G (p.Ile192Arg) | |
| 12 | g.101765115A>G | CA386299776 | GNPTAB | c.1802T>C (p.Ile601Thr) c.1721T>C (p.Ile574Thr) c.1586T>C (p.Ile529Thr) c.575T>C (p.Ile192Thr) | |
| 12 | g.101765115A>T | CA386299778 | GNPTAB | c.1802T>A (p.Ile601Lys) c.1721T>A (p.Ile574Lys) c.1586T>A (p.Ile529Lys) c.575T>A (p.Ile192Lys) | |
| 12 | g.101765116T>A | CA386299779 | GNPTAB | c.1801A>T (p.Ile601Leu) c.1720A>T (p.Ile574Leu) c.1585A>T (p.Ile529Leu) c.574A>T (p.Ile192Leu) | |
| 12 | g.101765116T>C | CA386299780 | GNPTAB | c.1801A>G (p.Ile601Val) c.1720A>G (p.Ile574Val) c.1585A>G (p.Ile529Val) c.574A>G (p.Ile192Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765116T>G | CA386299781 | GNPTAB | c.1801A>C (p.Ile601Leu) c.1720A>C (p.Ile574Leu) c.1585A>C (p.Ile529Leu) c.574A>C (p.Ile192Leu) | |
| 12 | g.101765116T= | CA2058955693 | GNPTAB | c.1801A= (p.Ile601=) c.1720A= (p.Ile574=) c.1585A= (p.Ile529=) c.574A= (p.Ile192=) | |
| 12 | g.101765117G>A | CA6746526 | GNPTAB | c.1800C>T (p.Leu600=) c.1719C>T (p.Leu573=) c.1584C>T (p.Leu528=) c.573C>T (p.Leu191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765117G>C | CA6746527 | GNPTAB | c.1800C>G (p.Leu600=) c.1719C>G (p.Leu573=) c.1584C>G (p.Leu528=) c.573C>G (p.Leu191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101765117G= | CA2058955694 | GNPTAB | c.1800C= (p.Leu600=) c.1719C= (p.Leu573=) c.1584C= (p.Leu528=) c.573C= (p.Leu191=) | |
| 12 | g.101765117G>T | CA481577628 | GNPTAB | c.1800C>A (p.Leu600=) c.1719C>A (p.Leu573=) c.1584C>A (p.Leu528=) c.573C>A (p.Leu191=) | |
| 12 | g.101765118A>C | CA386299782 | GNPTAB | c.1799T>G (p.Leu600Arg) c.1718T>G (p.Leu573Arg) c.1583T>G (p.Leu528Arg) c.572T>G (p.Leu191Arg) | |
| 12 | g.101765118A>G | CA386299783 | GNPTAB | c.1799T>C (p.Leu600Pro) c.1718T>C (p.Leu573Pro) c.1583T>C (p.Leu528Pro) c.572T>C (p.Leu191Pro) | |
| 12 | g.101765118A>T | CA386299784 | GNPTAB | c.1799T>A (p.Leu600His) c.1718T>A (p.Leu573His) c.1583T>A (p.Leu528His) c.572T>A (p.Leu191His) | |
| 12 | g.101765119G>A | CA386299785 | GNPTAB | c.1798C>T (p.Leu600Phe) c.1717C>T (p.Leu573Phe) c.1582C>T (p.Leu528Phe) c.571C>T (p.Leu191Phe) | |
| 12 | g.101765119G>C | CA386299786 | GNPTAB | c.1798C>G (p.Leu600Val) c.1717C>G (p.Leu573Val) c.1582C>G (p.Leu528Val) c.571C>G (p.Leu191Val) | |
| 12 | g.101765119G>T | CA386299787 | GNPTAB | c.1798C>A (p.Leu600Ile) c.1717C>A (p.Leu573Ile) c.1582C>A (p.Leu528Ile) c.571C>A (p.Leu191Ile) | |
| 12 | g.101765120dup | CA2620447435 | GNPTAB | c.1798dup (p.Leu600ProfsTer15) c.1717dup (p.Leu573ProfsTer15) c.1582dup (p.Leu528ProfsTer15) c.571dup (p.Leu191ProfsTer15) | gnomAD v4 |
| 12 | g.101765120G>A | CA481577629 | GNPTAB | c.1797C>T (p.His599=) c.1716C>T (p.His572=) c.1581C>T (p.His527=) c.570C>T (p.His190=) | |
| 12 | g.101765120G>C | CA386299788 | GNPTAB | c.1797C>G (p.His599Gln) c.1716C>G (p.His572Gln) c.1581C>G (p.His527Gln) c.570C>G (p.His190Gln) | |
| 12 | g.101765120G>T | CA386299789 | GNPTAB | c.1797C>A (p.His599Gln) c.1716C>A (p.His572Gln) c.1581C>A (p.His527Gln) c.570C>A (p.His190Gln) | |
| 12 | g.101765121T>A | CA386299790 | GNPTAB | c.1796A>T (p.His599Leu) c.1715A>T (p.His572Leu) c.1580A>T (p.His527Leu) c.569A>T (p.His190Leu) | |
| 12 | g.101765121T>C | CA386299792 | GNPTAB | c.1796A>G (p.His599Arg) c.1715A>G (p.His572Arg) c.1580A>G (p.His527Arg) c.569A>G (p.His190Arg) | |
| 12 | g.101765121T>G | CA386299791 | GNPTAB | c.1796A>C (p.His599Pro) c.1715A>C (p.His572Pro) c.1580A>C (p.His527Pro) c.569A>C (p.His190Pro) | |
| 12 | g.101765122G>A | CA386299793 | GNPTAB | c.1795C>T (p.His599Tyr) c.1714C>T (p.His572Tyr) c.1579C>T (p.His527Tyr) c.568C>T (p.His190Tyr) | gnomAD v4 |
| 12 | g.101765122G>C | CA386299794 | GNPTAB | c.1795C>G (p.His599Asp) c.1714C>G (p.His572Asp) c.1579C>G (p.His527Asp) c.568C>G (p.His190Asp) | |
| 12 | g.101765122G>T | CA386299795 | GNPTAB | c.1795C>A (p.His599Asn) c.1714C>A (p.His572Asn) c.1579C>A (p.His527Asn) c.568C>A (p.His190Asn) | |
| 12 | g.101765123G>A | CA481577630 | GNPTAB | c.1794C>T (p.Ile598=) c.1713C>T (p.Ile571=) c.1578C>T (p.Ile526=) c.567C>T (p.Ile189=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.101765123G>C | CA386299796 | GNPTAB | c.1794C>G (p.Ile598Met) c.1713C>G (p.Ile571Met) c.1578C>G (p.Ile526Met) c.567C>G (p.Ile189Met) | ClinVar |
| 12 | g.101765123G= | CA2058955695 | GNPTAB | c.1794C= (p.Ile598=) c.1713C= (p.Ile571=) c.1578C= (p.Ile526=) c.567C= (p.Ile189=) | |
| 12 | g.101765123G>T | CA481577631 | GNPTAB | c.1794C>A (p.Ile598=) c.1713C>A (p.Ile571=) c.1578C>A (p.Ile526=) c.567C>A (p.Ile189=) | |
| 12 | g.101765124A>C | CA386299797 | GNPTAB | c.1793T>G (p.Ile598Ser) c.1712T>G (p.Ile571Ser) c.1577T>G (p.Ile526Ser) c.566T>G (p.Ile189Ser) | |
| 12 | g.101765124A>G | CA386299798 | GNPTAB | c.1793T>C (p.Ile598Thr) c.1712T>C (p.Ile571Thr) c.1577T>C (p.Ile526Thr) c.566T>C (p.Ile189Thr) | |
| 12 | g.101765124A>T | CA386299799 | GNPTAB | c.1793T>A (p.Ile598Asn) c.1712T>A (p.Ile571Asn) c.1577T>A (p.Ile526Asn) c.566T>A (p.Ile189Asn) | |
| 12 | g.101765125T>A | CA386299800 | GNPTAB | c.1792A>T (p.Ile598Phe) c.1711A>T (p.Ile571Phe) c.1576A>T (p.Ile526Phe) c.565A>T (p.Ile189Phe) | |
| 12 | g.101765125T>C | CA6746528 | GNPTAB | c.1792A>G (p.Ile598Val) c.1711A>G (p.Ile571Val) c.1576A>G (p.Ile526Val) c.565A>G (p.Ile189Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101765125T>G | CA386299801 | GNPTAB | c.1792A>C (p.Ile598Leu) c.1711A>C (p.Ile571Leu) c.1576A>C (p.Ile526Leu) c.565A>C (p.Ile189Leu) | |
| 12 | g.101765125T= | CA2058955696 | GNPTAB | c.1792A= (p.Ile598=) c.1711A= (p.Ile571=) c.1576A= (p.Ile526=) c.565A= (p.Ile189=) | |
| 12 | g.101765126G>A | CA481577634 | GNPTAB | c.1791C>T (p.Thr597=) c.1710C>T (p.Thr570=) c.1575C>T (p.Thr525=) c.564C>T (p.Thr188=) | |
| 12 | g.101765126G>C | CA481577633 | GNPTAB | c.1791C>G (p.Thr597=) c.1710C>G (p.Thr570=) c.1575C>G (p.Thr525=) c.564C>G (p.Thr188=) | |
| 12 | g.101765126G>T | CA481577632 | GNPTAB | c.1791C>A (p.Thr597=) c.1710C>A (p.Thr570=) c.1575C>A (p.Thr525=) c.564C>A (p.Thr188=) | |
| 12 | g.101765127G>A | CA386299804 | GNPTAB | c.1790C>T (p.Thr597Ile) c.1709C>T (p.Thr570Ile) c.1574C>T (p.Thr525Ile) c.563C>T (p.Thr188Ile) | |
| 12 | g.101765127G>C | CA386299803 | GNPTAB | c.1790C>G (p.Thr597Ser) c.1709C>G (p.Thr570Ser) c.1574C>G (p.Thr525Ser) c.563C>G (p.Thr188Ser) | |
| 12 | g.101765127G>T | CA386299802 | GNPTAB | c.1790C>A (p.Thr597Asn) c.1709C>A (p.Thr570Asn) c.1574C>A (p.Thr525Asn) c.563C>A (p.Thr188Asn) | |
| 12 | g.101765128T>A | CA386299805 | GNPTAB | c.1789A>T (p.Thr597Ser) c.1708A>T (p.Thr570Ser) c.1573A>T (p.Thr525Ser) c.562A>T (p.Thr188Ser) | |
| 12 | g.101765128T>C | CA386299806 | GNPTAB | c.1789A>G (p.Thr597Ala) c.1708A>G (p.Thr570Ala) c.1573A>G (p.Thr525Ala) c.562A>G (p.Thr188Ala) | dbSNP gnomAD v4 |
| 12 | g.101765128T>G | CA386299807 | GNPTAB | c.1789A>C (p.Thr597Pro) c.1708A>C (p.Thr570Pro) c.1573A>C (p.Thr525Pro) c.562A>C (p.Thr188Pro) | |
| 12 | g.101765128T= | CA2058955697 | GNPTAB | c.1789A= (p.Thr597=) c.1708A= (p.Thr570=) c.1573A= (p.Thr525=) c.562A= (p.Thr188=) | |
| 12 | g.101765129T>A | CA386299808 | GNPTAB | c.1788A>T (p.Lys596Asn) c.1707A>T (p.Lys569Asn) c.1572A>T (p.Lys524Asn) c.561A>T (p.Lys187Asn) | gnomAD v4 |
| 12 | g.101765129T>C | CA481577635 | GNPTAB | c.1788A>G (p.Lys596=) c.1707A>G (p.Lys569=) c.1572A>G (p.Lys524=) c.561A>G (p.Lys187=) | gnomAD v4 |
| 12 | g.101765129T>G | CA386299809 | GNPTAB | c.1788A>C (p.Lys596Asn) c.1707A>C (p.Lys569Asn) c.1572A>C (p.Lys524Asn) c.561A>C (p.Lys187Asn) | gnomAD v4 |
| 12 | g.101765130T>A | CA386299812 | GNPTAB | c.1787A>T (p.Lys596Ile) c.1706A>T (p.Lys569Ile) c.1571A>T (p.Lys524Ile) c.560A>T (p.Lys187Ile) | |
| 12 | g.101765130T>C | CA386299811 | GNPTAB | c.1787A>G (p.Lys596Arg) c.1706A>G (p.Lys569Arg) c.1571A>G (p.Lys524Arg) c.560A>G (p.Lys187Arg) | |
| 12 | g.101765130T>G | CA386299810 | GNPTAB | c.1787A>C (p.Lys596Thr) c.1706A>C (p.Lys569Thr) c.1571A>C (p.Lys524Thr) c.560A>C (p.Lys187Thr) | |
| 12 | g.101765131T>A | CA386299813 | GNPTAB | c.1786A>T (p.Lys596Ter) c.1705A>T (p.Lys569Ter) c.1570A>T (p.Lys524Ter) c.559A>T (p.Lys187Ter) | |
| 12 | g.101765131T>C | CA386299814 | GNPTAB | c.1786A>G (p.Lys596Glu) c.1705A>G (p.Lys569Glu) c.1570A>G (p.Lys524Glu) c.559A>G (p.Lys187Glu) | |
| 12 | g.101765131T>G | CA386299815 | GNPTAB | c.1786A>C (p.Lys596Gln) c.1705A>C (p.Lys569Gln) c.1570A>C (p.Lys524Gln) c.559A>C (p.Lys187Gln) | |
| 12 | g.101765132C>A | CA386299816 | GNPTAB | c.1785G>T (p.Trp595Cys) c.1704G>T (p.Trp568Cys) c.1569G>T (p.Trp523Cys) c.558G>T (p.Trp186Cys) | |
| 12 | g.101765132C>G | CA386299817 | GNPTAB | c.1785G>C (p.Trp595Cys) c.1704G>C (p.Trp568Cys) c.1569G>C (p.Trp523Cys) c.558G>C (p.Trp186Cys) | |
| 12 | g.101765132C>T | CA386299818 | GNPTAB | c.1785G>A (p.Trp595Ter) c.1704G>A (p.Trp568Ter) c.1569G>A (p.Trp523Ter) c.558G>A (p.Trp186Ter) | |
| 12 | g.101765133C>A | CA386299819 | GNPTAB | c.1784G>T (p.Trp595Leu) c.1703G>T (p.Trp568Leu) c.1568G>T (p.Trp523Leu) c.557G>T (p.Trp186Leu) | |
| 12 | g.101765133C>G | CA386299821 | GNPTAB | c.1784G>C (p.Trp595Ser) c.1703G>C (p.Trp568Ser) c.1568G>C (p.Trp523Ser) c.557G>C (p.Trp186Ser) | |
| 12 | g.101765133C>T | CA386299820 | GNPTAB | c.1784G>A (p.Trp595Ter) c.1703G>A (p.Trp568Ter) c.1568G>A (p.Trp523Ter) c.557G>A (p.Trp186Ter) | |
| 12 | g.101765134A>C | CA386299822 | GNPTAB | c.1783T>G (p.Trp595Gly) c.1702T>G (p.Trp568Gly) c.1567T>G (p.Trp523Gly) c.556T>G (p.Trp186Gly) | |
| 12 | g.101765134A>G | CA386299823 | GNPTAB | c.1783T>C (p.Trp595Arg) c.1702T>C (p.Trp568Arg) c.1567T>C (p.Trp523Arg) c.556T>C (p.Trp186Arg) | |
| 12 | g.101765134A>T | CA386299824 | GNPTAB | c.1783T>A (p.Trp595Arg) c.1702T>A (p.Trp568Arg) c.1567T>A (p.Trp523Arg) c.556T>A (p.Trp186Arg) | |
| 12 | g.101765135C>A | CA386299825 | GNPTAB | c.1782G>T (p.Lys594Asn) c.1701G>T (p.Lys567Asn) c.1566G>T (p.Lys522Asn) c.555G>T (p.Lys185Asn) | |
| 12 | g.101765135C>G | CA386299826 | GNPTAB | c.1782G>C (p.Lys594Asn) c.1701G>C (p.Lys567Asn) c.1566G>C (p.Lys522Asn) c.555G>C (p.Lys185Asn) | |
| 12 | g.101765135C>T | CA481577636 | GNPTAB | c.1782G>A (p.Lys594=) c.1701G>A (p.Lys567=) c.1566G>A (p.Lys522=) c.555G>A (p.Lys185=) | gnomAD v4 |
| 12 | g.101765136T>A | CA386299827 | GNPTAB | c.1781A>T (p.Lys594Met) c.1700A>T (p.Lys567Met) c.1565A>T (p.Lys522Met) c.554A>T (p.Lys185Met) | |
| 12 | g.101765136T>C | CA386299828 | GNPTAB | c.1781A>G (p.Lys594Arg) c.1700A>G (p.Lys567Arg) c.1565A>G (p.Lys522Arg) c.554A>G (p.Lys185Arg) | gnomAD v4 |
| 12 | g.101765136T>G | CA386299829 | GNPTAB | c.1781A>C (p.Lys594Thr) c.1700A>C (p.Lys567Thr) c.1565A>C (p.Lys522Thr) c.554A>C (p.Lys185Thr) | |
| 12 | g.101765137T>A | CA386299830 | GNPTAB | c.1780A>T (p.Lys594Ter) c.1699A>T (p.Lys567Ter) c.1564A>T (p.Lys522Ter) c.553A>T (p.Lys185Ter) | ClinVar dbSNP |
| 12 | g.101765137T>C | CA386299831 | GNPTAB | c.1780A>G (p.Lys594Glu) c.1699A>G (p.Lys567Glu) c.1564A>G (p.Lys522Glu) c.553A>G (p.Lys185Glu) | |
| 12 | g.101765137T>G | CA386299832 | GNPTAB | c.1780A>C (p.Lys594Gln) c.1699A>C (p.Lys567Gln) c.1564A>C (p.Lys522Gln) c.553A>C (p.Lys185Gln) | |
| 12 | g.101765137T= | CA2058955698 | GNPTAB | c.1780A= (p.Lys594=) c.1699A= (p.Lys567=) c.1564A= (p.Lys522=) c.553A= (p.Lys185=) | |
| 12 | g.101765138del | CA2695217207 | GNPTAB | c.1779del (p.Asn593LysfsTer9) c.1698del (p.Asn566LysfsTer9) c.1563del (p.Asn521LysfsTer9) c.552del (p.Asn184LysfsTer9) | |
| 12 | g.101765138G>A | CA481577637 | GNPTAB | c.1779C>T (p.Asn593=) c.1698C>T (p.Asn566=) c.1563C>T (p.Asn521=) c.552C>T (p.Asn184=) | ClinVar gnomAD v4 |
| 12 | g.101765138G>C | CA6746529 | GNPTAB | c.1779C>G (p.Asn593Lys) c.1698C>G (p.Asn566Lys) c.1563C>G (p.Asn521Lys) c.552C>G (p.Asn184Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765138G= | CA2058955699 | GNPTAB | c.1779C= (p.Asn593=) c.1698C= (p.Asn566=) c.1563C= (p.Asn521=) c.552C= (p.Asn184=) | |
| 12 | g.101765138G>T | CA386299833 | GNPTAB | c.1779C>A (p.Asn593Lys) c.1698C>A (p.Asn566Lys) c.1563C>A (p.Asn521Lys) c.552C>A (p.Asn184Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765139T>A | CA6746530 | GNPTAB | c.1778A>T (p.Asn593Ile) c.1697A>T (p.Asn566Ile) c.1562A>T (p.Asn521Ile) c.551A>T (p.Asn184Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765139T>C | CA6746531 | GNPTAB | c.1778A>G (p.Asn593Ser) c.1697A>G (p.Asn566Ser) c.1562A>G (p.Asn521Ser) c.551A>G (p.Asn184Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101765139T>G | CA386299834 | GNPTAB | c.1778A>C (p.Asn593Thr) c.1697A>C (p.Asn566Thr) c.1562A>C (p.Asn521Thr) c.551A>C (p.Asn184Thr) | |
| 12 | g.101765139T= | CA2058955700 | GNPTAB | c.1778A= (p.Asn593=) c.1697A= (p.Asn566=) c.1562A= (p.Asn521=) c.551A= (p.Asn184=) | |
| 12 | g.101765140T>A | CA386299835 | GNPTAB | c.1777A>T (p.Asn593Tyr) c.1696A>T (p.Asn566Tyr) c.1561A>T (p.Asn521Tyr) c.550A>T (p.Asn184Tyr) | |
| 12 | g.101765140T>C | CA386299837 | GNPTAB | c.1777A>G (p.Asn593Asp) c.1696A>G (p.Asn566Asp) c.1561A>G (p.Asn521Asp) c.550A>G (p.Asn184Asp) | |
| 12 | g.101765140T>G | CA386299836 | GNPTAB | c.1777A>C (p.Asn593His) c.1696A>C (p.Asn566His) c.1561A>C (p.Asn521His) c.550A>C (p.Asn184His) | |
| 12 | g.101765141G>A | CA481577638 | GNPTAB | c.1776C>T (p.Ala592=) c.1695C>T (p.Ala565=) c.1560C>T (p.Ala520=) c.549C>T (p.Ala183=) | |
| 12 | g.101765141G>C | CA481577639 | GNPTAB | c.1776C>G (p.Ala592=) c.1695C>G (p.Ala565=) c.1560C>G (p.Ala520=) c.549C>G (p.Ala183=) | |
| 12 | g.101765141G>T | CA481577640 | GNPTAB | c.1776C>A (p.Ala592=) c.1695C>A (p.Ala565=) c.1560C>A (p.Ala520=) c.549C>A (p.Ala183=) | |
| 12 | g.101765142G>A | CA6746532 | GNPTAB | c.1775C>T (p.Ala592Val) c.1694C>T (p.Ala565Val) c.1559C>T (p.Ala520Val) c.548C>T (p.Ala183Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101765142G>C | CA386299838 | GNPTAB | c.1775C>G (p.Ala592Gly) c.1694C>G (p.Ala565Gly) c.1559C>G (p.Ala520Gly) c.548C>G (p.Ala183Gly) | |
| 12 | g.101765142G= | CA2058955701 | GNPTAB | c.1775C= (p.Ala592=) c.1694C= (p.Ala565=) c.1559C= (p.Ala520=) c.548C= (p.Ala183=) | |
| 12 | g.101765142G>T | CA386299839 | GNPTAB | c.1775C>A (p.Ala592Asp) c.1694C>A (p.Ala565Asp) c.1559C>A (p.Ala520Asp) c.548C>A (p.Ala183Asp) | |
| 12 | g.101765143C>A | CA386299840 | GNPTAB | c.1774G>T (p.Ala592Ser) c.1693G>T (p.Ala565Ser) c.1558G>T (p.Ala520Ser) c.547G>T (p.Ala183Ser) | gnomAD v4 |
| 12 | g.101765143C= | CA2058955702 | GNPTAB | c.1774G= (p.Ala592=) c.1693G= (p.Ala565=) c.1558G= (p.Ala520=) c.547G= (p.Ala183=) | |
| 12 | g.101765143C>G | CA386299841 | GNPTAB | c.1774G>C (p.Ala592Pro) c.1693G>C (p.Ala565Pro) c.1558G>C (p.Ala520Pro) c.547G>C (p.Ala183Pro) | |
| 12 | g.101765143C>T | CA267599 | GNPTAB | c.1774G>A (p.Ala592Thr) c.1693G>A (p.Ala565Thr) c.1558G>A (p.Ala520Thr) c.547G>A (p.Ala183Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765144A>C | CA386299842 | GNPTAB | c.1773T>G (p.Ile591Met) c.1692T>G (p.Ile564Met) c.1557T>G (p.Ile519Met) c.546T>G (p.Ile182Met) | |
| 12 | g.101765144A>G | CA481577641 | GNPTAB | c.1773T>C (p.Ile591=) c.1692T>C (p.Ile564=) c.1557T>C (p.Ile519=) c.546T>C (p.Ile182=) | |
| 12 | g.101765144A>T | CA481577642 | GNPTAB | c.1773T>A (p.Ile591=) c.1692T>A (p.Ile564=) c.1557T>A (p.Ile519=) c.546T>A (p.Ile182=) | |
| 12 | g.101765145A>C | CA386299843 | GNPTAB | c.1772T>G (p.Ile591Ser) c.1691T>G (p.Ile564Ser) c.1556T>G (p.Ile519Ser) c.545T>G (p.Ile182Ser) | |
| 12 | g.101765145A>G | CA386299844 | GNPTAB | c.1772T>C (p.Ile591Thr) c.1691T>C (p.Ile564Thr) c.1556T>C (p.Ile519Thr) c.545T>C (p.Ile182Thr) | |
| 12 | g.101765145A>T | CA386299845 | GNPTAB | c.1772T>A (p.Ile591Asn) c.1691T>A (p.Ile564Asn) c.1556T>A (p.Ile519Asn) c.545T>A (p.Ile182Asn) | |
| 12 | g.101765147_101765148insTATA | CA2620447503 | GNPTAB | c.1772_1773insATAT (p.Ala592TyrfsTer24) c.1691_1692insATAT (p.Ala565TyrfsTer24) c.1556_1557insATAT (p.Ala520TyrfsTer24) c.545_546insATAT (p.Ala183TyrfsTer24) | gnomAD v4 |
| 12 | g.101765146T>A | CA386299848 | GNPTAB | c.1771A>T (p.Ile591Phe) c.1690A>T (p.Ile564Phe) c.1555A>T (p.Ile519Phe) c.544A>T (p.Ile182Phe) | |
| 12 | g.101765146T>C | CA386299847 | GNPTAB | c.1771A>G (p.Ile591Val) c.1690A>G (p.Ile564Val) c.1555A>G (p.Ile519Val) c.544A>G (p.Ile182Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765146T>G | CA386299846 | GNPTAB | c.1771A>C (p.Ile591Leu) c.1690A>C (p.Ile564Leu) c.1555A>C (p.Ile519Leu) c.544A>C (p.Ile182Leu) | |
| 12 | g.101765146T= | CA2058955703 | GNPTAB | c.1771A= (p.Ile591=) c.1690A= (p.Ile564=) c.1555A= (p.Ile519=) c.544A= (p.Ile182=) | |
| 12 | g.101765147A>C | CA481577643 | GNPTAB | c.1770T>G (p.Ser590=) c.1689T>G (p.Ser563=) c.1554T>G (p.Ser518=) c.543T>G (p.Ser181=) | |
| 12 | g.101765147A>G | CA481577645 | GNPTAB | c.1770T>C (p.Ser590=) c.1689T>C (p.Ser563=) c.1554T>C (p.Ser518=) c.543T>C (p.Ser181=) | ClinVar gnomAD v4 |
| 12 | g.101765147A>T | CA481577644 | GNPTAB | c.1770T>A (p.Ser590=) c.1689T>A (p.Ser563=) c.1554T>A (p.Ser518=) c.543T>A (p.Ser181=) | |
| 12 | g.101765148G>A | CA386299849 | GNPTAB | c.1769C>T (p.Ser590Phe) c.1688C>T (p.Ser563Phe) c.1553C>T (p.Ser518Phe) c.542C>T (p.Ser181Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765148G>C | CA386299850 | GNPTAB | c.1769C>G (p.Ser590Cys) c.1688C>G (p.Ser563Cys) c.1553C>G (p.Ser518Cys) c.542C>G (p.Ser181Cys) | gnomAD v4 |
| 12 | g.101765148G= | CA2058955704 | GNPTAB | c.1769C= (p.Ser590=) c.1688C= (p.Ser563=) c.1553C= (p.Ser518=) c.542C= (p.Ser181=) | |
| 12 | g.101765148G>T | CA386299851 | GNPTAB | c.1769C>A (p.Ser590Tyr) c.1688C>A (p.Ser563Tyr) c.1553C>A (p.Ser518Tyr) c.542C>A (p.Ser181Tyr) | |
| 12 | g.101765149A>C | CA386299852 | GNPTAB | c.1768T>G (p.Ser590Ala) c.1687T>G (p.Ser563Ala) c.1552T>G (p.Ser518Ala) c.541T>G (p.Ser181Ala) | |
| 12 | g.101765149A>G | CA386299853 | GNPTAB | c.1768T>C (p.Ser590Pro) c.1687T>C (p.Ser563Pro) c.1552T>C (p.Ser518Pro) c.541T>C (p.Ser181Pro) | |
| 12 | g.101765149A>T | CA386299854 | GNPTAB | c.1768T>A (p.Ser590Thr) c.1687T>A (p.Ser563Thr) c.1552T>A (p.Ser518Thr) c.541T>A (p.Ser181Thr) | |
| 12 | g.101765150A= | CA2058955705 | GNPTAB | c.1767T= (p.Ala589=) c.1686T= (p.Ala562=) c.1551T= (p.Ala517=) c.540T= (p.Ala180=) | |
| 12 | g.101765150A>C | CA481577646 | GNPTAB | c.1767T>G (p.Ala589=) c.1686T>G (p.Ala562=) c.1551T>G (p.Ala517=) c.540T>G (p.Ala180=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765150A>G | CA481577647 | GNPTAB | c.1767T>C (p.Ala589=) c.1686T>C (p.Ala562=) c.1551T>C (p.Ala517=) c.540T>C (p.Ala180=) | |
| 12 | g.101765150A>T | CA481577648 | GNPTAB | c.1767T>A (p.Ala589=) c.1686T>A (p.Ala562=) c.1551T>A (p.Ala517=) c.540T>A (p.Ala180=) | |
| 12 | g.101765151G>A | CA6746533 | GNPTAB | c.1766C>T (p.Ala589Val) c.1685C>T (p.Ala562Val) c.1550C>T (p.Ala517Val) c.539C>T (p.Ala180Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.101765151G>C | CA386299855 | GNPTAB | c.1766C>G (p.Ala589Gly) c.1685C>G (p.Ala562Gly) c.1550C>G (p.Ala517Gly) c.539C>G (p.Ala180Gly) | |
| 12 | g.101765151G= | CA2058955706 | GNPTAB | c.1766C= (p.Ala589=) c.1685C= (p.Ala562=) c.1550C= (p.Ala517=) c.539C= (p.Ala180=) | |
| 12 | g.101765151G>T | CA386299856 | GNPTAB | c.1766C>A (p.Ala589Asp) c.1685C>A (p.Ala562Asp) c.1550C>A (p.Ala517Asp) c.539C>A (p.Ala180Asp) |