Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.84840412_84840421del | CA7709127 | ALPK3 | c.1133_1142del (p.Pro378LeufsTer?) c.1739_1748del (p.Pro580LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840421C>A | CA393374567 | ALPK3 | c.1142C>A (p.Ser381Tyr) c.1748C>A (p.Ser583Tyr) | |
15 | g.84840421C>G | CA393374569 | ALPK3 | c.1142C>G (p.Ser381Cys) c.1748C>G (p.Ser583Cys) | ClinVar |
15 | g.84840421C>T | CA393374570 | ALPK3 | c.1142C>T (p.Ser381Phe) c.1748C>T (p.Ser583Phe) | gnomAD v4 |
15 | g.84840422T>A | CA492277793 | ALPK3 | c.1143T>A (p.Ser381=) c.1749T>A (p.Ser583=) | |
15 | g.84840422T>C | CA492277796 | ALPK3 | c.1143T>C (p.Ser381=) c.1749T>C (p.Ser583=) | gnomAD v4 |
15 | g.84840422T>G | CA492277794 | ALPK3 | c.1143T>G (p.Ser381=) c.1749T>G (p.Ser583=) | |
15 | g.84840423G>A | CA393374572 | ALPK3 | c.1144G>A (p.Gly382Ser) c.1750G>A (p.Gly584Ser) | |
15 | g.84840423G>C | CA393374574 | ALPK3 | c.1144G>C (p.Gly382Arg) c.1750G>C (p.Gly584Arg) | |
15 | g.84840423G>T | CA393374576 | ALPK3 | c.1144G>T (p.Gly382Cys) c.1750G>T (p.Gly584Cys) | |
15 | g.84840424G>A | CA393374578 | ALPK3 | c.1145G>A (p.Gly382Asp) c.1751G>A (p.Gly584Asp) | |
15 | g.84840424G>C | CA393374580 | ALPK3 | c.1145G>C (p.Gly382Ala) c.1751G>C (p.Gly584Ala) | |
15 | g.84840424G>T | CA393374581 | ALPK3 | c.1145G>T (p.Gly382Val) c.1751G>T (p.Gly584Val) | ClinVar |
15 | g.84840425C>A | CA492277806 | ALPK3 | c.1146C>A (p.Gly382=) c.1752C>A (p.Gly584=) | |
15 | g.84840425C= | CA2192368333 | ALPK3 | c.1146C= (p.Gly382=) c.1752C= (p.Gly584=) | |
15 | g.84840425C>G | CA492277807 | ALPK3 | c.1146C>G (p.Gly382=) c.1752C>G (p.Gly584=) | |
15 | g.84840425C>T | CA7709130 | ALPK3 | c.1146C>T (p.Gly382=) c.1752C>T (p.Gly584=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840426A>C | CA393374583 | ALPK3 | c.1147A>C (p.Thr383Pro) c.1753A>C (p.Thr585Pro) | |
15 | g.84840426A>G | CA393374586 | ALPK3 | c.1147A>G (p.Thr383Ala) c.1753A>G (p.Thr585Ala) | |
15 | g.84840426A>T | CA393374585 | ALPK3 | c.1147A>T (p.Thr383Ser) c.1753A>T (p.Thr585Ser) | |
15 | g.84840427C>A | CA393374588 | ALPK3 | c.1148C>A (p.Thr383Lys) c.1754C>A (p.Thr585Lys) | |
15 | g.84840427C= | CA2192368334 | ALPK3 | c.1148C= (p.Thr383=) c.1754C= (p.Thr585=) | |
15 | g.84840427C>G | CA393374590 | ALPK3 | c.1148C>G (p.Thr383Arg) c.1754C>G (p.Thr585Arg) | |
15 | g.84840427C>T | CA7709131 | ALPK3 | c.1148C>T (p.Thr383Ile) c.1754C>T (p.Thr585Ile) | dbSNP ExAC gnomAD v2 |
15 | g.84840428A>C | CA492277814 | ALPK3 | c.1149A>C (p.Thr383=) c.1755A>C (p.Thr585=) | |
15 | g.84840428A>G | CA492277816 | ALPK3 | c.1149A>G (p.Thr383=) c.1755A>G (p.Thr585=) | |
15 | g.84840428A>T | CA492277817 | ALPK3 | c.1149A>T (p.Thr383=) c.1755A>T (p.Thr585=) | |
15 | g.84840429G>A | CA393374592 | ALPK3 | c.1150G>A (p.Asp384Asn) c.1756G>A (p.Asp586Asn) | |
15 | g.84840429G>C | CA393374593 | ALPK3 | c.1150G>C (p.Asp384His) c.1756G>C (p.Asp586His) | |
15 | g.84840429G>T | CA393374595 | ALPK3 | c.1150G>T (p.Asp384Tyr) c.1756G>T (p.Asp586Tyr) | |
15 | g.84840430A= | CA2192368335 | ALPK3 | c.1151A= (p.Asp384=) c.1757A= (p.Asp586=) | |
15 | g.84840430A>C | CA393374597 | ALPK3 | c.1151A>C (p.Asp384Ala) c.1757A>C (p.Asp586Ala) | gnomAD v4 |
15 | g.84840430A>G | CA393374598 | ALPK3 | c.1151A>G (p.Asp384Gly) c.1757A>G (p.Asp586Gly) | dbSNP gnomAD v4 |
15 | g.84840430A>T | CA393374600 | ALPK3 | c.1151A>T (p.Asp384Val) c.1757A>T (p.Asp586Val) | |
15 | g.84840431T>A | CA393374602 | ALPK3 | c.1152T>A (p.Asp384Glu) c.1758T>A (p.Asp586Glu) | |
15 | g.84840431T>C | CA273666031 | ALPK3 | c.1152T>C (p.Asp384=) c.1758T>C (p.Asp586=) | dbSNP |
15 | g.84840431T>G | CA393374604 | ALPK3 | c.1152T>G (p.Asp384Glu) c.1758T>G (p.Asp586Glu) | |
15 | g.84840431T= | CA2192368336 | ALPK3 | c.1152T= (p.Asp384=) c.1758T= (p.Asp586=) | |
15 | g.84840432A>C | CA393374608 | ALPK3 | c.1153A>C (p.Ser385Arg) c.1759A>C (p.Ser587Arg) | |
15 | g.84840432A>G | CA393374609 | ALPK3 | c.1153A>G (p.Ser385Gly) c.1759A>G (p.Ser587Gly) | gnomAD v4 |
15 | g.84840432A>T | CA393374606 | ALPK3 | c.1153A>T (p.Ser385Cys) c.1759A>T (p.Ser587Cys) | |
15 | g.84840433G>A | CA393374612 | ALPK3 | c.1154G>A (p.Ser385Asn) c.1760G>A (p.Ser587Asn) | |
15 | g.84840433G>C | CA393374610 | ALPK3 | c.1154G>C (p.Ser385Thr) c.1760G>C (p.Ser587Thr) | |
15 | g.84840433G>T | CA393374614 | ALPK3 | c.1154G>T (p.Ser385Ile) c.1760G>T (p.Ser587Ile) | |
15 | g.84840434T>A | CA393374615 | ALPK3 | c.1155T>A (p.Ser385Arg) c.1761T>A (p.Ser587Arg) | |
15 | g.84840434T>C | CA492277829 | ALPK3 | c.1155T>C (p.Ser385=) c.1761T>C (p.Ser587=) | |
15 | g.84840434T>G | CA393374617 | ALPK3 | c.1155T>G (p.Ser385Arg) c.1761T>G (p.Ser587Arg) | |
15 | g.84840435A= | CA2192368337 | ALPK3 | c.1156A= (p.Thr386=) c.1762A= (p.Thr588=) | |
15 | g.84840435A>C | CA393374619 | ALPK3 | c.1156A>C (p.Thr386Pro) c.1762A>C (p.Thr588Pro) | |
15 | g.84840435A>G | CA7709132 | ALPK3 | c.1156A>G (p.Thr386Ala) c.1762A>G (p.Thr588Ala) | dbSNP ExAC gnomAD v2 |
15 | g.84840435A>T | CA393374620 | ALPK3 | c.1156A>T (p.Thr386Ser) c.1762A>T (p.Thr588Ser) | |
15 | g.84840436C>A | CA393374623 | ALPK3 | c.1157C>A (p.Thr386Asn) c.1763C>A (p.Thr588Asn) | |
15 | g.84840436C>G | CA393374625 | ALPK3 | c.1157C>G (p.Thr386Ser) c.1763C>G (p.Thr588Ser) | |
15 | g.84840436C>T | CA393374627 | ALPK3 | c.1157C>T (p.Thr386Ile) c.1763C>T (p.Thr588Ile) | |
15 | g.84840437del | CA2630109269 | ALPK3 | c.1158del (p.Arg387GlyfsTer29) c.1764del (p.Arg589GlyfsTer29) | gnomAD v4 |
15 | g.84840437C>A | CA492277834 | ALPK3 | c.1158C>A (p.Thr386=) c.1764C>A (p.Thr588=) | |
15 | g.84840437C= | CA2192368338 | ALPK3 | c.1158C= (p.Thr386=) c.1764C= (p.Thr588=) | |
15 | g.84840437C>G | CA492277836 | ALPK3 | c.1158C>G (p.Thr386=) c.1764C>G (p.Thr588=) | |
15 | g.84840437C>T | CA7709133 | ALPK3 | c.1158C>T (p.Thr386=) c.1764C>T (p.Thr588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840438A= | CA2192368339 | ALPK3 | c.1159A= (p.Arg387=) c.1765A= (p.Arg589=) | |
15 | g.84840438A>C | CA492277837 | ALPK3 | c.1159A>C (p.Arg387=) c.1765A>C (p.Arg589=) | |
15 | g.84840438A>G | CA393374630 | ALPK3 | c.1159A>G (p.Arg387Gly) c.1765A>G (p.Arg589Gly) | dbSNP gnomAD v4 |
15 | g.84840438A>T | CA393374631 | ALPK3 | c.1159A>T (p.Arg387Trp) c.1765A>T (p.Arg589Trp) | |
15 | g.84840439G>A | CA393374633 | ALPK3 | c.1160G>A (p.Arg387Lys) c.1766G>A (p.Arg589Lys) | gnomAD v4 |
15 | g.84840439G>C | CA393374635 | ALPK3 | c.1160G>C (p.Arg387Thr) c.1766G>C (p.Arg589Thr) | |
15 | g.84840439G>T | CA393374636 | ALPK3 | c.1160G>T (p.Arg387Met) c.1766G>T (p.Arg589Met) | |
15 | g.84840440G>A | CA492277843 | ALPK3 | c.1161G>A (p.Arg387=) c.1767G>A (p.Arg589=) | |
15 | g.84840440G>C | CA393374639 | ALPK3 | c.1161G>C (p.Arg387Ser) c.1767G>C (p.Arg589Ser) | |
15 | g.84840440G>T | CA393374640 | ALPK3 | c.1161G>T (p.Arg387Ser) c.1767G>T (p.Arg589Ser) | |
15 | g.84840441A= | CA2192368340 | ALPK3 | c.1162A= (p.Lys388=) c.1768A= (p.Lys590=) | |
15 | g.84840441A>C | CA393374644 | ALPK3 | c.1162A>C (p.Lys388Gln) c.1768A>C (p.Lys590Gln) | dbSNP gnomAD v4 |
15 | g.84840441A>G | CA393374643 | ALPK3 | c.1162A>G (p.Lys388Glu) c.1768A>G (p.Lys590Glu) | |
15 | g.84840441A>T | CA393374642 | ALPK3 | c.1162A>T (p.Lys388Ter) c.1768A>T (p.Lys590Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840442A= | CA2192368341 | ALPK3 | c.1163A= (p.Lys388=) c.1769A= (p.Lys590=) | |
15 | g.84840442A>C | CA393374645 | ALPK3 | c.1163A>C (p.Lys388Thr) c.1769A>C (p.Lys590Thr) | |
15 | g.84840442A>G | CA393374646 | ALPK3 | c.1163A>G (p.Lys388Arg) c.1769A>G (p.Lys590Arg) | |
15 | g.84840442A>T | CA393374647 | ALPK3 | c.1163A>T (p.Lys388Met) c.1769A>T (p.Lys590Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840443G>A | CA492277848 | ALPK3 | c.1164G>A (p.Lys388=) c.1770G>A (p.Lys590=) | |
15 | g.84840443G>C | CA393374648 | ALPK3 | c.1164G>C (p.Lys388Asn) c.1770G>C (p.Lys590Asn) | |
15 | g.84840443G>T | CA393374650 | ALPK3 | c.1164G>T (p.Lys388Asn) c.1770G>T (p.Lys590Asn) | |
15 | g.84840444C>A | CA393374652 | ALPK3 | c.1165C>A (p.Pro389Thr) c.1771C>A (p.Pro591Thr) | |
15 | g.84840444C>G | CA393374660 | ALPK3 | c.1165C>G (p.Pro389Ala) c.1771C>G (p.Pro591Ala) | gnomAD v4 |
15 | g.84840444C>T | CA393374661 | ALPK3 | c.1165C>T (p.Pro389Ser) c.1771C>T (p.Pro591Ser) | |
15 | g.84840445C>A | CA393374663 | ALPK3 | c.1166C>A (p.Pro389Gln) c.1772C>A (p.Pro591Gln) | |
15 | g.84840445C>G | CA393374665 | ALPK3 | c.1166C>G (p.Pro389Arg) c.1772C>G (p.Pro591Arg) | |
15 | g.84840445C>T | CA393374667 | ALPK3 | c.1166C>T (p.Pro389Leu) c.1772C>T (p.Pro591Leu) | |
15 | g.84840446A>C | CA492277860 | ALPK3 | c.1167A>C (p.Pro389=) c.1773A>C (p.Pro591=) | |
15 | g.84840446A>G | CA492277858 | ALPK3 | c.1167A>G (p.Pro389=) c.1773A>G (p.Pro591=) | |
15 | g.84840446A>T | CA492277857 | ALPK3 | c.1167A>T (p.Pro389=) c.1773A>T (p.Pro591=) | |
15 | g.84840447G>A | CA7709134 | ALPK3 | c.1168G>A (p.Ala390Thr) c.1774G>A (p.Ala592Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840447G>C | CA393374670 | ALPK3 | c.1168G>C (p.Ala390Pro) c.1774G>C (p.Ala592Pro) | |
15 | g.84840447G= | CA2192368342 | ALPK3 | c.1168G= (p.Ala390=) c.1774G= (p.Ala592=) | |
15 | g.84840447G>T | CA393374669 | ALPK3 | c.1168G>T (p.Ala390Ser) c.1774G>T (p.Ala592Ser) | |
15 | g.84840447_84840448delinsGC | CA2192368343 | ALPK3 | c.1168_1169delinsGC (p.Ala390=) c.1774_1775delinsGC (p.Ala592=) | |
15 | g.84840448C>A | CA393374672 | ALPK3 | c.1169C>A (p.Ala390Asp) c.1775C>A (p.Ala592Asp) | |
15 | g.84840448C= | CA2192368344 | ALPK3 | c.1169C= (p.Ala390=) c.1775C= (p.Ala592=) | |
15 | g.84840448C>G | CA393374674 | ALPK3 | c.1169C>G (p.Ala390Gly) c.1775C>G (p.Ala592Gly) | dbSNP |
15 | g.84840448C>T | CA393374676 | ALPK3 | c.1169C>T (p.Ala390Val) c.1775C>T (p.Ala592Val) | gnomAD v4 |
15 | g.84840449del | CA919606912 | ALPK3 | c.1170del (p.Ser391LeufsTer25) c.1776del (p.Ser593LeufsTer25) | dbSNP |
15 | g.84840449C>A | CA492277864 | ALPK3 | c.1170C>A (p.Ala390=) c.1776C>A (p.Ala592=) | COSMIC COSMIC |
15 | g.84840449C>G | CA492277865 | ALPK3 | c.1170C>G (p.Ala390=) c.1776C>G (p.Ala592=) | |
15 | g.84840449C>T | CA492277866 | ALPK3 | c.1170C>T (p.Ala390=) c.1776C>T (p.Ala592=) | |
15 | g.84840450T>A | CA393374677 | ALPK3 | c.1171T>A (p.Ser391Thr) c.1777T>A (p.Ser593Thr) | |
15 | g.84840450T>C | CA393374682 | ALPK3 | c.1171T>C (p.Ser391Pro) c.1777T>C (p.Ser593Pro) | |
15 | g.84840450T>G | CA393374683 | ALPK3 | c.1171T>G (p.Ser391Ala) c.1777T>G (p.Ser593Ala) | |
15 | g.84840450_84840453delinsTCTG | CA2192368345 | ALPK3 | c.1171_1174delinsTCTG (p.Ser391=) c.1777_1780delinsTCTG (p.Ser593=) | |
15 | g.84840451C>A | CA393374684 | ALPK3 | c.1172C>A (p.Ser391Tyr) c.1778C>A (p.Ser593Tyr) | |
15 | g.84840451C= | CA2192368347 | ALPK3 | c.1172C= (p.Ser391=) c.1778C= (p.Ser593=) | |
15 | g.84840451C>G | CA393374685 | ALPK3 | c.1172C>G (p.Ser391Cys) c.1778C>G (p.Ser593Cys) | gnomAD v3 gnomAD v4 |
15 | g.84840451C>T | CA7709135 | ALPK3 | c.1172C>T (p.Ser391Phe) c.1778C>T (p.Ser593Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840454_84840456del | CA2192368346 | ALPK3 | c.1175_1177del (p.Ala392del) c.1781_1783del (p.Ala594del) | dbSNP |
15 | g.84840452T>A | CA492277870 | ALPK3 | c.1173T>A (p.Ser391=) c.1779T>A (p.Ser593=) | |
15 | g.84840452T>C | CA492277871 | ALPK3 | c.1173T>C (p.Ser391=) c.1779T>C (p.Ser593=) | gnomAD v4 |
15 | g.84840452T>G | CA492277874 | ALPK3 | c.1173T>G (p.Ser391=) c.1779T>G (p.Ser593=) | |
15 | g.84840453G>A | CA393374686 | ALPK3 | c.1174G>A (p.Ala392Thr) c.1780G>A (p.Ala594Thr) | |
15 | g.84840453G>C | CA393374687 | ALPK3 | c.1174G>C (p.Ala392Pro) c.1780G>C (p.Ala594Pro) | |
15 | g.84840453G>T | CA393374688 | ALPK3 | c.1174G>T (p.Ala392Ser) c.1780G>T (p.Ala594Ser) | |
15 | g.84840454C>A | CA393374690 | ALPK3 | c.1175C>A (p.Ala392Asp) c.1781C>A (p.Ala594Asp) | |
15 | g.84840454C= | CA2192368348 | ALPK3 | c.1175C= (p.Ala392=) c.1781C= (p.Ala594=) | |
15 | g.84840454C>G | CA393374689 | ALPK3 | c.1175C>G (p.Ala392Gly) c.1781C>G (p.Ala594Gly) | |
15 | g.84840454C>T | CA7709136 | ALPK3 | c.1175C>T (p.Ala392Val) c.1781C>T (p.Ala594Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840455T>A | CA492277879 | ALPK3 | c.1176T>A (p.Ala392=) c.1782T>A (p.Ala594=) | |
15 | g.84840455T>C | CA492277880 | ALPK3 | c.1176T>C (p.Ala392=) c.1782T>C (p.Ala594=) | |
15 | g.84840455T>G | CA492277881 | ALPK3 | c.1176T>G (p.Ala392=) c.1782T>G (p.Ala594=) | |
15 | g.84840455dup | CA2575820490 | ALPK3 | c.1176dup (p.Val393CysfsTer?) c.1782dup (p.Val595CysfsTer?) | |
15 | g.84840456G>A | CA393374691 | ALPK3 | c.1177G>A (p.Val393Met) c.1783G>A (p.Val595Met) | |
15 | g.84840456G>C | CA393374692 | ALPK3 | c.1177G>C (p.Val393Leu) c.1783G>C (p.Val595Leu) | ClinVar |
15 | g.84840456G>T | CA393374693 | ALPK3 | c.1177G>T (p.Val393Leu) c.1783G>T (p.Val595Leu) | |
15 | g.84840457T>A | CA393374694 | ALPK3 | c.1178T>A (p.Val393Glu) c.1784T>A (p.Val595Glu) | |
15 | g.84840457T>C | CA393374695 | ALPK3 | c.1178T>C (p.Val393Ala) c.1784T>C (p.Val595Ala) | |
15 | g.84840457T>G | CA393374696 | ALPK3 | c.1178T>G (p.Val393Gly) c.1784T>G (p.Val595Gly) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840457T= | CA2192368349 | ALPK3 | c.1178T= (p.Val393=) c.1784T= (p.Val595=) | |
15 | g.84840458G>A | CA492277247 | ALPK3 | c.1179G>A (p.Val393=) c.1785G>A (p.Val595=) | |
15 | g.84840458G>C | CA492277248 | ALPK3 | c.1179G>C (p.Val393=) c.1785G>C (p.Val595=) | |
15 | g.84840458G>T | CA492277249 | ALPK3 | c.1179G>T (p.Val393=) c.1785G>T (p.Val595=) | |
15 | g.84840459G>A | CA393374697 | ALPK3 | c.1180G>A (p.Gly394Ser) c.1786G>A (p.Gly596Ser) | gnomAD v4 |
15 | g.84840459G>C | CA393374698 | ALPK3 | c.1180G>C (p.Gly394Arg) c.1786G>C (p.Gly596Arg) | |
15 | g.84840459G>T | CA393374699 | ALPK3 | c.1180G>T (p.Gly394Cys) c.1786G>T (p.Gly596Cys) | |
15 | g.84840460G>A | CA393374700 | ALPK3 | c.1181G>A (p.Gly394Asp) c.1787G>A (p.Gly596Asp) | dbSNP gnomAD v2 |
15 | g.84840460G>C | CA393374701 | ALPK3 | c.1181G>C (p.Gly394Ala) c.1787G>C (p.Gly596Ala) | |
15 | g.84840460G= | CA2192368350 | ALPK3 | c.1181G= (p.Gly394=) c.1787G= (p.Gly596=) | |
15 | g.84840460G>T | CA393374702 | ALPK3 | c.1181G>T (p.Gly394Val) c.1787G>T (p.Gly596Val) | |
15 | g.84840461C>A | CA492277252 | ALPK3 | c.1182C>A (p.Gly394=) c.1788C>A (p.Gly596=) | |
15 | g.84840461C>G | CA492277251 | ALPK3 | c.1182C>G (p.Gly394=) c.1788C>G (p.Gly596=) | |
15 | g.84840461C>T | CA492277250 | ALPK3 | c.1182C>T (p.Gly394=) c.1788C>T (p.Gly596=) | |
15 | g.84840462A= | CA2192368351 | ALPK3 | c.1183A= (p.Thr395=) c.1789A= (p.Thr597=) | |
15 | g.84840462A>C | CA393374704 | ALPK3 | c.1183A>C (p.Thr395Pro) c.1789A>C (p.Thr597Pro) | |
15 | g.84840462A>G | CA393374705 | ALPK3 | c.1183A>G (p.Thr395Ala) c.1789A>G (p.Thr597Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840462A>T | CA393374703 | ALPK3 | c.1183A>T (p.Thr395Ser) c.1789A>T (p.Thr597Ser) | |
15 | g.84840463C>A | CA393374708 | ALPK3 | c.1184C>A (p.Thr395Asn) c.1790C>A (p.Thr597Asn) | |
15 | g.84840463C>G | CA393374706 | ALPK3 | c.1184C>G (p.Thr395Ser) c.1790C>G (p.Thr597Ser) | |
15 | g.84840463C>T | CA393374707 | ALPK3 | c.1184C>T (p.Thr395Ile) c.1790C>T (p.Thr597Ile) | |
15 | g.84840464T>A | CA492277253 | ALPK3 | c.1185T>A (p.Thr395=) c.1791T>A (p.Thr597=) | |
15 | g.84840464T>C | CA492277254 | ALPK3 | c.1185T>C (p.Thr395=) c.1791T>C (p.Thr597=) | |
15 | g.84840464T>G | CA492277255 | ALPK3 | c.1185T>G (p.Thr395=) c.1791T>G (p.Thr597=) | |
15 | g.84840465C>A | CA393374709 | ALPK3 | c.1186C>A (p.Pro396Thr) c.1792C>A (p.Pro598Thr) | gnomAD v4 |
15 | g.84840465C>G | CA393374710 | ALPK3 | c.1186C>G (p.Pro396Ala) c.1792C>G (p.Pro598Ala) | ClinVar gnomAD v4 |
15 | g.84840465C>T | CA393374711 | ALPK3 | c.1186C>T (p.Pro396Ser) c.1792C>T (p.Pro598Ser) | ClinVar |
15 | g.84840466C>A | CA393374712 | ALPK3 | c.1187C>A (p.Pro396Gln) c.1793C>A (p.Pro598Gln) | |
15 | g.84840466C>G | CA393374713 | ALPK3 | c.1187C>G (p.Pro396Arg) c.1793C>G (p.Pro598Arg) | |
15 | g.84840466C>T | CA393374714 | ALPK3 | c.1187C>T (p.Pro396Leu) c.1793C>T (p.Pro598Leu) | |
15 | g.84840467A>C | CA492277258 | ALPK3 | c.1188A>C (p.Pro396=) c.1794A>C (p.Pro598=) | |
15 | g.84840467A>G | CA492277257 | ALPK3 | c.1188A>G (p.Pro396=) c.1794A>G (p.Pro598=) | gnomAD v4 |
15 | g.84840467A>T | CA492277256 | ALPK3 | c.1188A>T (p.Pro396=) c.1794A>T (p.Pro598=) | |
15 | g.84840468G>A | CA393374715 | ALPK3 | c.1189G>A (p.Asp397Asn) c.1795G>A (p.Asp599Asn) | |
15 | g.84840468G>C | CA7709137 | ALPK3 | c.1189G>C (p.Asp397His) c.1795G>C (p.Asp599His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840468G= | CA2192368352 | ALPK3 | c.1189G= (p.Asp397=) c.1795G= (p.Asp599=) | |
15 | g.84840468G>T | CA393374716 | ALPK3 | c.1189G>T (p.Asp397Tyr) c.1795G>T (p.Asp599Tyr) | |
15 | g.84840469A>C | CA393374725 | ALPK3 | c.1190A>C (p.Asp397Ala) c.1796A>C (p.Asp599Ala) | |
15 | g.84840469A>G | CA393374723 | ALPK3 | c.1190A>G (p.Asp397Gly) c.1796A>G (p.Asp599Gly) | |
15 | g.84840469A>T | CA393374717 | ALPK3 | c.1190A>T (p.Asp397Val) c.1796A>T (p.Asp599Val) | |
15 | g.84840470C>A | CA393374727 | ALPK3 | c.1191C>A (p.Asp397Glu) c.1797C>A (p.Asp599Glu) | |
15 | g.84840470C>G | CA393374729 | ALPK3 | c.1191C>G (p.Asp397Glu) c.1797C>G (p.Asp599Glu) | |
15 | g.84840470C>T | CA492277259 | ALPK3 | c.1191C>T (p.Asp397=) c.1797C>T (p.Asp599=) | |
15 | g.84840471A>C | CA393374731 | ALPK3 | c.1192A>C (p.Lys398Gln) c.1798A>C (p.Lys600Gln) | |
15 | g.84840471A>G | CA393374732 | ALPK3 | c.1192A>G (p.Lys398Glu) c.1798A>G (p.Lys600Glu) | ClinVar |
15 | g.84840471A>T | CA393374734 | ALPK3 | c.1192A>T (p.Lys398Ter) c.1798A>T (p.Lys600Ter) | |
15 | g.84840472A>C | CA393374736 | ALPK3 | c.1193A>C (p.Lys398Thr) c.1799A>C (p.Lys600Thr) | |
15 | g.84840472A>G | CA393374741 | ALPK3 | c.1193A>G (p.Lys398Arg) c.1799A>G (p.Lys600Arg) | |
15 | g.84840472A>T | CA393374743 | ALPK3 | c.1193A>T (p.Lys398Met) c.1799A>T (p.Lys600Met) | |
15 | g.84840473G>A | CA492277260 | ALPK3 | c.1194G>A (p.Lys398=) c.1800G>A (p.Lys600=) | |
15 | g.84840473G>C | CA393374745 | ALPK3 | c.1194G>C (p.Lys398Asn) c.1800G>C (p.Lys600Asn) | |
15 | g.84840473G>T | CA393374747 | ALPK3 | c.1194G>T (p.Lys398Asn) c.1800G>T (p.Lys600Asn) | |
15 | g.84840474G>A | CA393374749 | ALPK3 | c.1195G>A (p.Ala399Thr) c.1801G>A (p.Ala601Thr) | gnomAD v4 |
15 | g.84840474G>C | CA393374751 | ALPK3 | c.1195G>C (p.Ala399Pro) c.1801G>C (p.Ala601Pro) | |
15 | g.84840474G>T | CA393374753 | ALPK3 | c.1195G>T (p.Ala399Ser) c.1801G>T (p.Ala601Ser) | |
15 | g.84840475C>A | CA393374756 | ALPK3 | c.1196C>A (p.Ala399Asp) c.1802C>A (p.Ala601Asp) | |
15 | g.84840475C>G | CA393374759 | ALPK3 | c.1196C>G (p.Ala399Gly) c.1802C>G (p.Ala601Gly) | |
15 | g.84840475C>T | CA393374755 | ALPK3 | c.1196C>T (p.Ala399Val) c.1802C>T (p.Ala601Val) | |
15 | g.84840476C>A | CA492277261 | ALPK3 | c.1197C>A (p.Ala399=) c.1803C>A (p.Ala601=) | |
15 | g.84840476C>G | CA492277262 | ALPK3 | c.1197C>G (p.Ala399=) c.1803C>G (p.Ala601=) | |
15 | g.84840476C>T | CA492277263 | ALPK3 | c.1197C>T (p.Ala399=) c.1803C>T (p.Ala601=) | |
15 | g.84840477C>A | CA393374760 | ALPK3 | c.1198C>A (p.Gln400Lys) c.1804C>A (p.Gln602Lys) | |
15 | g.84840477C>G | CA393374761 | ALPK3 | c.1198C>G (p.Gln400Glu) c.1804C>G (p.Gln602Glu) | |
15 | g.84840477C>T | CA393374763 | ALPK3 | c.1198C>T (p.Gln400Ter) c.1804C>T (p.Gln602Ter) | |
15 | g.84840478A= | CA2192368353 | ALPK3 | c.1199A= (p.Gln400=) c.1805A= (p.Gln602=) | |
15 | g.84840478A>C | CA393374765 | ALPK3 | c.1199A>C (p.Gln400Pro) c.1805A>C (p.Gln602Pro) | |
15 | g.84840478A>G | CA7709138 | ALPK3 | c.1199A>G (p.Gln400Arg) c.1805A>G (p.Gln602Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840478A>T | CA393374767 | ALPK3 | c.1199A>T (p.Gln400Leu) c.1805A>T (p.Gln602Leu) | |
15 | g.84840479G>A | CA492277264 | ALPK3 | c.1200G>A (p.Gln400=) c.1806G>A (p.Gln602=) | |
15 | g.84840479G>C | CA393374768 | ALPK3 | c.1200G>C (p.Gln400His) c.1806G>C (p.Gln602His) | gnomAD v4 |
15 | g.84840479G>T | CA393374770 | ALPK3 | c.1200G>T (p.Gln400His) c.1806G>T (p.Gln602His) | |
15 | g.84840480A= | CA2192368354 | ALPK3 | c.1201A= (p.Lys401=) c.1807A= (p.Lys603=) | |
15 | g.84840480A>C | CA393374772 | ALPK3 | c.1201A>C (p.Lys401Gln) c.1807A>C (p.Lys603Gln) | |
15 | g.84840480A>G | CA393374774 | ALPK3 | c.1201A>G (p.Lys401Glu) c.1807A>G (p.Lys603Glu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840480A>T | CA393374775 | ALPK3 | c.1201A>T (p.Lys401Ter) c.1807A>T (p.Lys603Ter) | |
15 | g.84840481A>C | CA393374776 | ALPK3 | c.1202A>C (p.Lys401Thr) c.1808A>C (p.Lys603Thr) | |
15 | g.84840481A>G | CA393374778 | ALPK3 | c.1202A>G (p.Lys401Arg) c.1808A>G (p.Lys603Arg) | |
15 | g.84840481A>T | CA393374780 | ALPK3 | c.1202A>T (p.Lys401Met) c.1808A>T (p.Lys603Met) | |
15 | g.84840482G>A | CA492277265 | ALPK3 | c.1203G>A (p.Lys401=) c.1809G>A (p.Lys603=) | |
15 | g.84840482G>C | CA393374786 | ALPK3 | c.1203G>C (p.Lys401Asn) c.1809G>C (p.Lys603Asn) | |
15 | g.84840482G>T | CA393374787 | ALPK3 | c.1203G>T (p.Lys401Asn) c.1809G>T (p.Lys603Asn) | |
15 | g.84840483del | CA2575820491 | ALPK3 | c.1204del (p.Ala402ProfsTer14) c.1810del (p.Ala604ProfsTer14) | ClinVar gnomAD v4 |
15 | g.84840483G>A | CA393374789 | ALPK3 | c.1204G>A (p.Ala402Thr) c.1810G>A (p.Ala604Thr) | |
15 | g.84840483G>C | CA393374790 | ALPK3 | c.1204G>C (p.Ala402Pro) c.1810G>C (p.Ala604Pro) | gnomAD v4 |
15 | g.84840483G>T | CA393374792 | ALPK3 | c.1204G>T (p.Ala402Ser) c.1810G>T (p.Ala604Ser) | ClinVar COSMIC COSMIC |
15 | g.84840484C>A | CA393374794 | ALPK3 | c.1205C>A (p.Ala402Asp) c.1811C>A (p.Ala604Asp) | |
15 | g.84840484C= | CA2192368355 | ALPK3 | c.1205C= (p.Ala402=) c.1811C= (p.Ala604=) | |
15 | g.84840484C>G | CA393374796 | ALPK3 | c.1205C>G (p.Ala402Gly) c.1811C>G (p.Ala604Gly) | |
15 | g.84840484C>T | CA393374797 | ALPK3 | c.1205C>T (p.Ala402Val) c.1811C>T (p.Ala604Val) | |
15 | g.84840487dup | CA2630109270 | ALPK3 | c.1208dup (p.Gly404TrpfsTer?) c.1814dup (p.Gly606TrpfsTer?) | gnomAD v4 |
15 | g.84840485C>A | CA492277266 | ALPK3 | c.1206C>A (p.Ala402=) c.1812C>A (p.Ala604=) | |
15 | g.84840485C= | CA2192368357 | ALPK3 | c.1206C= (p.Ala402=) c.1812C= (p.Ala604=) | |
15 | g.84840485C>G | CA7709139 | ALPK3 | c.1206C>G (p.Ala402=) c.1812C>G (p.Ala604=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840485C>T | CA492277267 | ALPK3 | c.1206C>T (p.Ala402=) c.1812C>T (p.Ala604=) | COSMIC COSMIC |
15 | g.84840488_84840493dup | CA2192368356 | ALPK3 | c.1209_1214dup (p.Pro405_Gly406insGlyPro) c.1815_1820dup (p.Pro607_Gly608insGlyPro) | dbSNP gnomAD v4 |
15 | g.84840486C>A | CA393374801 | ALPK3 | c.1207C>A (p.Pro403Thr) c.1813C>A (p.Pro605Thr) | |
15 | g.84840486C= | CA2192368358 | ALPK3 | c.1207C= (p.Pro403=) c.1813C= (p.Pro605=) | |
15 | g.84840486C>G | CA7709141 | ALPK3 | c.1207C>G (p.Pro403Ala) c.1813C>G (p.Pro605Ala) | dbSNP ExAC |
15 | g.84840486C>T | CA7709140 | ALPK3 | c.1207C>T (p.Pro403Ser) c.1813C>T (p.Pro605Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840487C>A | CA393374804 | ALPK3 | c.1208C>A (p.Pro403His) c.1814C>A (p.Pro605His) | |
15 | g.84840487C>G | CA393374806 | ALPK3 | c.1208C>G (p.Pro403Arg) c.1814C>G (p.Pro605Arg) | |
15 | g.84840487C>T | CA393374810 | ALPK3 | c.1208C>T (p.Pro403Leu) c.1814C>T (p.Pro605Leu) | |
15 | g.84840488T>A | CA492277268 | ALPK3 | c.1209T>A (p.Pro403=) c.1815T>A (p.Pro605=) | |
15 | g.84840488T>C | CA492277269 | ALPK3 | c.1209T>C (p.Pro403=) c.1815T>C (p.Pro605=) | |
15 | g.84840488T>G | CA492277270 | ALPK3 | c.1209T>G (p.Pro403=) c.1815T>G (p.Pro605=) | |
15 | g.84840488T= | CA2192368359 | ALPK3 | c.1209T= (p.Pro403=) c.1815T= (p.Pro605=) | |
15 | g.84840489G>A | CA393374813 | ALPK3 | c.1210G>A (p.Gly404Ser) c.1816G>A (p.Gly606Ser) | |
15 | g.84840489G>C | CA393374815 | ALPK3 | c.1210G>C (p.Gly404Arg) c.1816G>C (p.Gly606Arg) | |
15 | g.84840489G>T | CA393374812 | ALPK3 | c.1210G>T (p.Gly404Cys) c.1816G>T (p.Gly606Cys) | |
15 | g.84840499_84840504dup | CA7709142 | ALPK3 | c.1220_1225dup (p.Gly408_Gln409insProGly) c.1826_1831dup (p.Gly610_Gln611insProGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840499_84840504del | CA2630109271 | ALPK3 | c.1220_1225del (p.Pro407_Gly408del) c.1826_1831del (p.Pro609_Gly610del) | gnomAD v4 |
15 | g.84840490G>A | CA393374821 | ALPK3 | c.1211G>A (p.Gly404Asp) c.1817G>A (p.Gly606Asp) | |
15 | g.84840490G>C | CA393374818 | ALPK3 | c.1211G>C (p.Gly404Ala) c.1817G>C (p.Gly606Ala) | gnomAD v4 |
15 | g.84840490G>T | CA393374820 | ALPK3 | c.1211G>T (p.Gly404Val) c.1817G>T (p.Gly606Val) | |
15 | g.84840491C>A | CA492277273 | ALPK3 | c.1212C>A (p.Gly404=) c.1818C>A (p.Gly606=) | |
15 | g.84840491C>G | CA492277272 | ALPK3 | c.1212C>G (p.Gly404=) c.1818C>G (p.Gly606=) | |
15 | g.84840491C>T | CA492277271 | ALPK3 | c.1212C>T (p.Gly404=) c.1818C>T (p.Gly606=) | gnomAD v4 |
15 | g.84840492C>A | CA393374823 | ALPK3 | c.1213C>A (p.Pro405Thr) c.1819C>A (p.Pro607Thr) | |
15 | g.84840492C>G | CA393374825 | ALPK3 | c.1213C>G (p.Pro405Ala) c.1819C>G (p.Pro607Ala) | |
15 | g.84840492C>T | CA393374829 | ALPK3 | c.1213C>T (p.Pro405Ser) c.1819C>T (p.Pro607Ser) | |
15 | g.84840493C>A | CA393374831 | ALPK3 | c.1214C>A (p.Pro405Gln) c.1820C>A (p.Pro607Gln) | gnomAD v4 |
15 | g.84840493C= | CA2192368360 | ALPK3 | c.1214C= (p.Pro405=) c.1820C= (p.Pro607=) | |
15 | g.84840493C>G | CA393374833 | ALPK3 | c.1214C>G (p.Pro405Arg) c.1820C>G (p.Pro607Arg) | gnomAD v4 |
15 | g.84840493C>T | CA7709143 | ALPK3 | c.1214C>T (p.Pro405Leu) c.1820C>T (p.Pro607Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840494A>C | CA492277274 | ALPK3 | c.1215A>C (p.Pro405=) c.1821A>C (p.Pro607=) | gnomAD v4 |
15 | g.84840494A>G | CA492277275 | ALPK3 | c.1215A>G (p.Pro405=) c.1821A>G (p.Pro607=) | |
15 | g.84840494A>T | CA492277276 | ALPK3 | c.1215A>T (p.Pro405=) c.1821A>T (p.Pro607=) | |
15 | g.84840495G>A | CA393374842 | ALPK3 | c.1216G>A (p.Gly406Ser) c.1822G>A (p.Gly608Ser) | gnomAD v4 |
15 | g.84840495G>C | CA393374845 | ALPK3 | c.1216G>C (p.Gly406Arg) c.1822G>C (p.Gly608Arg) | |
15 | g.84840495G>T | CA393374847 | ALPK3 | c.1216G>T (p.Gly406Cys) c.1822G>T (p.Gly608Cys) | |
15 | g.84840496G>A | CA393374853 | ALPK3 | c.1217G>A (p.Gly406Asp) c.1823G>A (p.Gly608Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840496G>C | CA393374850 | ALPK3 | c.1217G>C (p.Gly406Ala) c.1823G>C (p.Gly608Ala) | |
15 | g.84840496G= | CA2192368361 | ALPK3 | c.1217G= (p.Gly406=) c.1823G= (p.Gly608=) | |
15 | g.84840496G>T | CA393374848 | ALPK3 | c.1217G>T (p.Gly406Val) c.1823G>T (p.Gly608Val) | |
15 | g.84840497C>A | CA492277277 | ALPK3 | c.1218C>A (p.Gly406=) c.1824C>A (p.Gly608=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840497C= | CA2192368362 | ALPK3 | c.1218C= (p.Gly406=) c.1824C= (p.Gly608=) | |
15 | g.84840497C>G | CA492277278 | ALPK3 | c.1218C>G (p.Gly406=) c.1824C>G (p.Gly608=) | gnomAD v4 |
15 | g.84840497C>T | CA7709144 | ALPK3 | c.1218C>T (p.Gly406=) c.1824C>T (p.Gly608=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840498C>A | CA393374857 | ALPK3 | c.1219C>A (p.Pro407Thr) c.1825C>A (p.Pro609Thr) | |
15 | g.84840498C= | CA2192368363 | ALPK3 | c.1219C= (p.Pro407=) c.1825C= (p.Pro609=) | |
15 | g.84840498C>G | CA393374860 | ALPK3 | c.1219C>G (p.Pro407Ala) c.1825C>G (p.Pro609Ala) | |
15 | g.84840498C>T | CA393374863 | ALPK3 | c.1219C>T (p.Pro407Ser) c.1825C>T (p.Pro609Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840499C>A | CA393374865 | ALPK3 | c.1220C>A (p.Pro407Gln) c.1826C>A (p.Pro609Gln) | |
15 | g.84840499C>G | CA393374873 | ALPK3 | c.1220C>G (p.Pro407Arg) c.1826C>G (p.Pro609Arg) | |
15 | g.84840499C>T | CA393374874 | ALPK3 | c.1220C>T (p.Pro407Leu) c.1826C>T (p.Pro609Leu) | |
15 | g.84840500A>C | CA492277279 | ALPK3 | c.1221A>C (p.Pro407=) c.1827A>C (p.Pro609=) | |
15 | g.84840500A>G | CA492277280 | ALPK3 | c.1221A>G (p.Pro407=) c.1827A>G (p.Pro609=) | gnomAD v4 |
15 | g.84840500A>T | CA492277281 | ALPK3 | c.1221A>T (p.Pro407=) c.1827A>T (p.Pro609=) | |
15 | g.84840501G>A | CA393374876 | ALPK3 | c.1222G>A (p.Gly408Ser) c.1828G>A (p.Gly610Ser) | gnomAD v4 |
15 | g.84840501G>C | CA393374877 | ALPK3 | c.1222G>C (p.Gly408Arg) c.1828G>C (p.Gly610Arg) | gnomAD v4 |
15 | g.84840501G>T | CA393374878 | ALPK3 | c.1222G>T (p.Gly408Cys) c.1828G>T (p.Gly610Cys) | |
15 | g.84840502G>A | CA393374881 | ALPK3 | c.1223G>A (p.Gly408Asp) c.1829G>A (p.Gly610Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840502G>C | CA393374884 | ALPK3 | c.1223G>C (p.Gly408Ala) c.1829G>C (p.Gly610Ala) | gnomAD v4 |
15 | g.84840502G= | CA2192368364 | ALPK3 | c.1223G= (p.Gly408=) c.1829G= (p.Gly610=) | |
15 | g.84840502G>T | CA393374885 | ALPK3 | c.1223G>T (p.Gly408Val) c.1829G>T (p.Gly610Val) | |
15 | g.84840503C>A | CA492277282 | ALPK3 | c.1224C>A (p.Gly408=) c.1830C>A (p.Gly610=) | |
15 | g.84840503C= | CA2192368365 | ALPK3 | c.1224C= (p.Gly408=) c.1830C= (p.Gly610=) | |
15 | g.84840503C>G | CA492277283 | ALPK3 | c.1224C>G (p.Gly408=) c.1830C>G (p.Gly610=) | |
15 | g.84840503C>T | CA492277284 | ALPK3 | c.1224C>T (p.Gly408=) c.1830C>T (p.Gly610=) | ClinVar dbSNP |
15 | g.84840504C>A | CA393374893 | ALPK3 | c.1225C>A (p.Gln409Lys) c.1831C>A (p.Gln611Lys) | |
15 | g.84840504C>G | CA393374892 | ALPK3 | c.1225C>G (p.Gln409Glu) c.1831C>G (p.Gln611Glu) | |
15 | g.84840504C>T | CA393374889 | ALPK3 | c.1225C>T (p.Gln409Ter) c.1831C>T (p.Gln611Ter) | |
15 | g.84840505A= | CA2192368366 | ALPK3 | c.1226A= (p.Gln409=) c.1832A= (p.Gln611=) | |
15 | g.84840505A>C | CA393374897 | ALPK3 | c.1226A>C (p.Gln409Pro) c.1832A>C (p.Gln611Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840505A>G | CA7709145 | ALPK3 | c.1226A>G (p.Gln409Arg) c.1832A>G (p.Gln611Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840505A>T | CA273666053 | ALPK3 | c.1226A>T (p.Gln409Leu) c.1832A>T (p.Gln611Leu) | ClinVar dbSNP gnomAD v4 |
15 | g.84840506G>A | CA492277285 | ALPK3 | c.1227G>A (p.Gln409=) c.1833G>A (p.Gln611=) | gnomAD v4 COSMIC COSMIC |
15 | g.84840506G>C | CA393374902 | ALPK3 | c.1227G>C (p.Gln409His) c.1833G>C (p.Gln611His) | |
15 | g.84840506G>T | CA393374904 | ALPK3 | c.1227G>T (p.Gln409His) c.1833G>T (p.Gln611His) | |
15 | g.84840507G>A | CA393374907 | ALPK3 | c.1228G>A (p.Glu410Lys) c.1834G>A (p.Glu612Lys) | |
15 | g.84840507G>C | CA393374909 | ALPK3 | c.1228G>C (p.Glu410Gln) c.1834G>C (p.Glu612Gln) | |
15 | g.84840507G>T | CA393374911 | ALPK3 | c.1228G>T (p.Glu410Ter) c.1834G>T (p.Glu612Ter) | |
15 | g.84840511_84840527del | CA2739269633 | ALPK3 | c.1232_1248del (p.Val411GlyfsTer?) c.1838_1854del (p.Val613GlyfsTer?) | ClinVar |
15 | g.84840508A>C | CA393374914 | ALPK3 | c.1229A>C (p.Glu410Ala) c.1835A>C (p.Glu612Ala) | |
15 | g.84840508A>G | CA393374920 | ALPK3 | c.1229A>G (p.Glu410Gly) c.1835A>G (p.Glu612Gly) | |
15 | g.84840508A>T | CA393374922 | ALPK3 | c.1229A>T (p.Glu410Val) c.1835A>T (p.Glu612Val) | |
15 | g.84840509A>C | CA393374925 | ALPK3 | c.1230A>C (p.Glu410Asp) c.1836A>C (p.Glu612Asp) | |
15 | g.84840509A>G | CA492277289 | ALPK3 | c.1230A>G (p.Glu410=) c.1836A>G (p.Glu612=) | gnomAD v4 |
15 | g.84840509A>T | CA393374928 | ALPK3 | c.1230A>T (p.Glu410Asp) c.1836A>T (p.Glu612Asp) | gnomAD v4 |
15 | g.84840510G>A | CA393374932 | ALPK3 | c.1231G>A (p.Val411Met) c.1837G>A (p.Val613Met) | |
15 | g.84840510G>C | CA393374934 | ALPK3 | c.1231G>C (p.Val411Leu) c.1837G>C (p.Val613Leu) | |
15 | g.84840510G>T | CA393374930 | ALPK3 | c.1231G>T (p.Val411Leu) c.1837G>T (p.Val613Leu) | |
15 | g.84840511T>A | CA393374936 | ALPK3 | c.1232T>A (p.Val411Glu) c.1838T>A (p.Val613Glu) | |
15 | g.84840511T>C | CA393374938 | ALPK3 | c.1232T>C (p.Val411Ala) c.1838T>C (p.Val613Ala) | gnomAD v4 |
15 | g.84840511T>G | CA393374939 | ALPK3 | c.1232T>G (p.Val411Gly) c.1838T>G (p.Val613Gly) | |
15 | g.84840512G>A | CA492277290 | ALPK3 | c.1233G>A (p.Val411=) c.1839G>A (p.Val613=) | ClinVar |
15 | g.84840512G>C | CA492277293 | ALPK3 | c.1233G>C (p.Val411=) c.1839G>C (p.Val613=) | |
15 | g.84840512G>T | CA492277292 | ALPK3 | c.1233G>T (p.Val411=) c.1839G>T (p.Val613=) | |
15 | g.84840513T>A | CA393374941 | ALPK3 | c.1234T>A (p.Tyr412Asn) c.1840T>A (p.Tyr614Asn) | |
15 | g.84840513T>C | CA393374942 | ALPK3 | c.1234T>C (p.Tyr412His) c.1840T>C (p.Tyr614His) | |
15 | g.84840513T>G | CA393374945 | ALPK3 | c.1234T>G (p.Tyr412Asp) c.1840T>G (p.Tyr614Asp) | |
15 | g.84840514A>C | CA393374947 | ALPK3 | c.1235A>C (p.Tyr412Ser) c.1841A>C (p.Tyr614Ser) | |
15 | g.84840514A>G | CA393374956 | ALPK3 | c.1235A>G (p.Tyr412Cys) c.1841A>G (p.Tyr614Cys) | |
15 | g.84840514A>T | CA393374949 | ALPK3 | c.1235A>T (p.Tyr412Phe) c.1841A>T (p.Tyr614Phe) | |
15 | g.84840515T>A | CA393374959 | ALPK3 | c.1236T>A (p.Tyr412Ter) c.1842T>A (p.Tyr614Ter) | |
15 | g.84840515T>C | CA492277295 | ALPK3 | c.1236T>C (p.Tyr412=) c.1842T>C (p.Tyr614=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840515T>G | CA393374961 | ALPK3 | c.1236T>G (p.Tyr412Ter) c.1842T>G (p.Tyr614Ter) | |
15 | g.84840515T= | CA2192368367 | ALPK3 | c.1236T= (p.Tyr412=) c.1842T= (p.Tyr614=) | |
15 | g.84840516T>A | CA393374965 | ALPK3 | c.1237T>A (p.Phe413Ile) c.1843T>A (p.Phe615Ile) | |
15 | g.84840516T>C | CA393374967 | ALPK3 | c.1237T>C (p.Phe413Leu) c.1843T>C (p.Phe615Leu) | |
15 | g.84840516T>G | CA393374971 | ALPK3 | c.1237T>G (p.Phe413Val) c.1843T>G (p.Phe615Val) | ClinVar dbSNP |
15 | g.84840516T= | CA2192368368 | ALPK3 | c.1237T= (p.Phe413=) c.1843T= (p.Phe615=) | |
15 | g.84840517T>A | CA393374977 | ALPK3 | c.1238T>A (p.Phe413Tyr) c.1844T>A (p.Phe615Tyr) | |
15 | g.84840517T>C | CA393374978 | ALPK3 | c.1238T>C (p.Phe413Ser) c.1844T>C (p.Phe615Ser) | |
15 | g.84840517T>G | CA393374974 | ALPK3 | c.1238T>G (p.Phe413Cys) c.1844T>G (p.Phe615Cys) | |
15 | g.84840518C>A | CA7709146 | ALPK3 | c.1239C>A (p.Phe413Leu) c.1845C>A (p.Phe615Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840518C= | CA2192368369 | ALPK3 | c.1239C= (p.Phe413=) c.1845C= (p.Phe615=) | |
15 | g.84840518C>G | CA393374979 | ALPK3 | c.1239C>G (p.Phe413Leu) c.1845C>G (p.Phe615Leu) | |
15 | g.84840518C>T | CA492277297 | ALPK3 | c.1239C>T (p.Phe413=) c.1845C>T (p.Phe615=) | gnomAD v4 |
15 | g.84840519T>A | CA393374981 | ALPK3 | c.1240T>A (p.Ser414Thr) c.1846T>A (p.Ser616Thr) | |
15 | g.84840519T>C | CA393374982 | ALPK3 | c.1240T>C (p.Ser414Pro) c.1846T>C (p.Ser616Pro) | gnomAD v4 |
15 | g.84840519T>G | CA393374983 | ALPK3 | c.1240T>G (p.Ser414Ala) c.1846T>G (p.Ser616Ala) | |
15 | g.84840520C>A | CA393374986 | ALPK3 | c.1241C>A (p.Ser414Tyr) c.1847C>A (p.Ser616Tyr) | |
15 | g.84840520C= | CA2192368370 | ALPK3 | c.1241C= (p.Ser414=) c.1847C= (p.Ser616=) | |
15 | g.84840520C>G | CA7709147 | ALPK3 | c.1241C>G (p.Ser414Cys) c.1847C>G (p.Ser616Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840520C>T | CA7709148 | ALPK3 | c.1241C>T (p.Ser414Phe) c.1847C>T (p.Ser616Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840521C>A | CA492277299 | ALPK3 | c.1242C>A (p.Ser414=) c.1848C>A (p.Ser616=) | |
15 | g.84840521C= | CA2192368372 | ALPK3 | c.1242C= (p.Ser414=) c.1848C= (p.Ser616=) | |
15 | g.84840521C>G | CA492277300 | ALPK3 | c.1242C>G (p.Ser414=) c.1848C>G (p.Ser616=) | |
15 | g.84840521C>T | CA273666086 | ALPK3 | c.1242C>T (p.Ser414=) c.1848C>T (p.Ser616=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840521_84840522delinsCT | CA2192368371 | ALPK3 | c.1242_1243delinsCT (p.Ser414=) c.1848_1849delinsCT (p.Ser616=) |