Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72243738_72243889del | CA2792651243 | PHOX2A | c.124_217+58del n.85+1699_85+1850del | |
11 | g.72243773_72243801del | CA2614940200 | PHOX2A | c.208_217+19del n.85+1783_85+1811del | gnomAD v4 |
11 | g.72243779_72243859del | CA2614940224 | PHOX2A | c.152_217+15del n.85+1727_85+1807del | gnomAD v4 |
11 | g.72243794A>C | CA381746127 | PHOX2A | c.211T>G (p.Ser71Ala) n.85+1786T>G | |
11 | g.72243794A>G | CA381746115 | PHOX2A | c.211T>C (p.Ser71Pro) n.85+1786T>C | gnomAD v4 |
11 | g.72243794A>T | CA381746124 | PHOX2A | c.211T>A (p.Ser71Thr) n.85+1786T>A | |
11 | g.72243795G>A | CA475598203 | PHOX2A | c.210C>T (p.Tyr70=) n.85+1785C>T | gnomAD v4 |
11 | g.72243795G>C | CA381746131 | PHOX2A | c.210C>G (p.Tyr70Ter) n.85+1785C>G | |
11 | g.72243795G>T | CA381746134 | PHOX2A | c.210C>A (p.Tyr70Ter) n.85+1785C>A | gnomAD v4 |
11 | g.72243796T>A | CA381746138 | PHOX2A | c.209A>T (p.Tyr70Phe) n.85+1784A>T | |
11 | g.72243796T>C | CA381746144 | PHOX2A | c.209A>G (p.Tyr70Cys) n.85+1784A>G | gnomAD v4 |
11 | g.72243796T>G | CA381746145 | PHOX2A | c.209A>C (p.Tyr70Ser) n.85+1784A>C | |
11 | g.72243797A>C | CA381746152 | PHOX2A | c.208T>G (p.Tyr70Asp) n.85+1783T>G | |
11 | g.72243797A>G | CA381746154 | PHOX2A | c.208T>C (p.Tyr70His) n.85+1783T>C | gnomAD v4 |
11 | g.72243797A>T | CA381746155 | PHOX2A | c.208T>A (p.Tyr70Asn) n.85+1783T>A | |
11 | g.72243798G>A | CA475598204 | PHOX2A | c.207C>T (p.Pro69=) n.85+1782C>T | gnomAD v4 |
11 | g.72243798G>C | CA475598205 | PHOX2A | c.207C>G (p.Pro69=) n.85+1782C>G | dbSNP gnomAD v4 |
11 | g.72243798G= | CA1981904765 | PHOX2A | c.207C= (p.Pro69=) n.85+1782C= | |
11 | g.72243798G>T | CA475598206 | PHOX2A | c.207C>A (p.Pro69=) n.85+1782C>A | gnomAD v4 |
11 | g.72243800del | CA2614940393 | PHOX2A | c.207del (p.Tyr70ThrfsTer?) n.85+1782del | gnomAD v4 |
11 | g.72243799G>A | CA381746158 | PHOX2A | c.206C>T (p.Pro69Leu) n.85+1781C>T | gnomAD v4 |
11 | g.72243799G>C | CA381746160 | PHOX2A | c.206C>G (p.Pro69Arg) n.85+1781C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243799G= | CA1981904766 | PHOX2A | c.206C= (p.Pro69=) n.85+1781C= | |
11 | g.72243799G>T | CA381746161 | PHOX2A | c.206C>A (p.Pro69His) n.85+1781C>A | gnomAD v4 |
11 | g.72243800G>A | CA381746165 | PHOX2A | c.205C>T (p.Pro69Ser) n.85+1780C>T | gnomAD v4 |
11 | g.72243800G>C | CA381746163 | PHOX2A | c.205C>G (p.Pro69Ala) n.85+1780C>G | |
11 | g.72243800G>T | CA381746162 | PHOX2A | c.205C>A (p.Pro69Thr) n.85+1780C>A | gnomAD v4 |
11 | g.72243803_72243804dup | CA2614940401 | PHOX2A | c.204_205dup (p.Pro69ArgfsTer?) n.85+1779_85+1780dup | gnomAD v4 |
11 | g.72243801C>A | CA475598207 | PHOX2A | c.204G>T (p.Ala68=) n.85+1779G>T | gnomAD v4 |
11 | g.72243801C= | CA1981904767 | PHOX2A | c.204G= (p.Ala68=) n.85+1779G= | |
11 | g.72243801C>G | CA475598208 | PHOX2A | c.204G>C (p.Ala68=) n.85+1779G>C | |
11 | g.72243801C>T | CA475598209 | PHOX2A | c.204G>A (p.Ala68=) n.85+1779G>A | dbSNP gnomAD v4 |
11 | g.72243802G>A | CA381746174 | PHOX2A | c.203C>T (p.Ala68Val) n.85+1778C>T | gnomAD v4 COSMIC |
11 | g.72243802G>C | CA381746168 | PHOX2A | c.203C>G (p.Ala68Gly) n.85+1778C>G | |
11 | g.72243802G>T | CA381746172 | PHOX2A | c.203C>A (p.Ala68Glu) n.85+1778C>A | gnomAD v4 |
11 | g.72243803C>A | CA381746187 | PHOX2A | c.202G>T (p.Ala68Ser) n.85+1777G>T | gnomAD v4 |
11 | g.72243803C= | CA1981904768 | PHOX2A | c.202G= (p.Ala68=) n.85+1777G= | |
11 | g.72243803C>G | CA6170929 | PHOX2A | c.202G>C (p.Ala68Pro) n.85+1777G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243803C>T | CA381746195 | PHOX2A | c.202G>A (p.Ala68Thr) n.85+1777G>A | gnomAD v4 |
11 | g.72243811_72243921del | CA2614940421 | PHOX2A | c.92_202del (p.Gly31_Pro67del) n.85+1667_85+1777del | gnomAD v4 |
11 | g.72243804G>A | CA475598213 | PHOX2A | c.201C>T (p.Pro67=) n.85+1776C>T | dbSNP gnomAD v4 |
11 | g.72243804G>C | CA224385831 | PHOX2A | c.201C>G (p.Pro67=) n.85+1776C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243804G= | CA1981904769 | PHOX2A | c.201C= (p.Pro67=) n.85+1776C= | |
11 | g.72243804G>T | CA475598214 | PHOX2A | c.201C>A (p.Pro67=) n.85+1776C>A | gnomAD v4 |
11 | g.72243806del | CA2614940425 | PHOX2A | c.201del (p.Ala68ArgfsTer?) n.85+1776del | gnomAD v4 |
11 | g.72243805G>A | CA381746203 | PHOX2A | c.200C>T (p.Pro67Leu) n.85+1775C>T | gnomAD v4 |
11 | g.72243805G>C | CA381746199 | PHOX2A | c.200C>G (p.Pro67Arg) n.85+1775C>G | |
11 | g.72243805G>T | CA381746201 | PHOX2A | c.200C>A (p.Pro67His) n.85+1775C>A | gnomAD v4 |
11 | g.72243806G>A | CA381746207 | PHOX2A | c.199C>T (p.Pro67Ser) n.85+1774C>T | dbSNP gnomAD v4 COSMIC |
11 | g.72243806G>C | CA381746208 | PHOX2A | c.199C>G (p.Pro67Ala) n.85+1774C>G | |
11 | g.72243806G= | CA1981904770 | PHOX2A | c.199C= (p.Pro67=) n.85+1774C= | |
11 | g.72243806G>T | CA381746210 | PHOX2A | c.199C>A (p.Pro67Thr) n.85+1774C>A | gnomAD v4 |
11 | g.72243807C>A | CA381746214 | PHOX2A | c.198G>T (p.Gln66His) n.85+1773G>T | gnomAD v4 |
11 | g.72243807C>G | CA381746217 | PHOX2A | c.198G>C (p.Gln66His) n.85+1773G>C | |
11 | g.72243807C>T | CA475598215 | PHOX2A | c.198G>A (p.Gln66=) n.85+1773G>A | gnomAD v4 |
11 | g.72243808T>A | CA381746220 | PHOX2A | c.197A>T (p.Gln66Leu) n.85+1772A>T | |
11 | g.72243808T>C | CA381746224 | PHOX2A | c.197A>G (p.Gln66Arg) n.85+1772A>G | gnomAD v4 |
11 | g.72243808T>G | CA381746221 | PHOX2A | c.197A>C (p.Gln66Pro) n.85+1772A>C | gnomAD v4 |
11 | g.72243809G>A | CA381746226 | PHOX2A | c.196C>T (p.Gln66Ter) n.85+1771C>T | gnomAD v4 |
11 | g.72243809G>C | CA381746230 | PHOX2A | c.196C>G (p.Gln66Glu) n.85+1771C>G | |
11 | g.72243809G>T | CA381746235 | PHOX2A | c.196C>A (p.Gln66Lys) n.85+1771C>A | gnomAD v4 |
11 | g.72243810del | CA2614940442 | PHOX2A | c.196del (p.Gln66SerfsTer?) n.85+1771del | gnomAD v4 |
11 | g.72243810G>A | CA475598217 | PHOX2A | c.195C>T (p.His65=) n.85+1770C>T | gnomAD v4 |
11 | g.72243810G>C | CA381746236 | PHOX2A | c.195C>G (p.His65Gln) n.85+1770C>G | |
11 | g.72243810G>T | CA381746239 | PHOX2A | c.195C>A (p.His65Gln) n.85+1770C>A | gnomAD v4 |
11 | g.72243811T>A | CA381746240 | PHOX2A | c.194A>T (p.His65Leu) n.85+1769A>T | |
11 | g.72243811T>C | CA381746241 | PHOX2A | c.194A>G (p.His65Arg) n.85+1769A>G | gnomAD v4 |
11 | g.72243811T>G | CA381746242 | PHOX2A | c.194A>C (p.His65Pro) n.85+1769A>C | |
11 | g.72243812G>A | CA381746243 | PHOX2A | c.193C>T (p.His65Tyr) n.85+1768C>T | gnomAD v4 |
11 | g.72243812G>C | CA381746244 | PHOX2A | c.193C>G (p.His65Asp) n.85+1768C>G | |
11 | g.72243812G= | CA1981904771 | PHOX2A | c.193C= (p.His65=) n.85+1768C= | |
11 | g.72243812G>T | CA381746246 | PHOX2A | c.193C>A (p.His65Asn) n.85+1768C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243813G>A | CA6170930 | PHOX2A | c.192C>T (p.Asp64=) n.85+1767C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243813G>C | CA381746266 | PHOX2A | c.192C>G (p.Asp64Glu) n.85+1767C>G | gnomAD v4 |
11 | g.72243813G= | CA1981904772 | PHOX2A | c.192C= (p.Asp64=) n.85+1767C= | |
11 | g.72243813G>T | CA381746251 | PHOX2A | c.192C>A (p.Asp64Glu) n.85+1767C>A | gnomAD v4 |
11 | g.72243814T>A | CA381746270 | PHOX2A | c.191A>T (p.Asp64Val) n.85+1766A>T | |
11 | g.72243814T>C | CA381746280 | PHOX2A | c.191A>G (p.Asp64Gly) n.85+1766A>G | gnomAD v4 |
11 | g.72243814T>G | CA381746274 | PHOX2A | c.191A>C (p.Asp64Ala) n.85+1766A>C | |
11 | g.72243815C>A | CA381746283 | PHOX2A | c.190G>T (p.Asp64Tyr) n.85+1765G>T | gnomAD v4 |
11 | g.72243815C>G | CA381746293 | PHOX2A | c.190G>C (p.Asp64His) n.85+1765G>C | |
11 | g.72243815C>T | CA381746300 | PHOX2A | c.190G>A (p.Asp64Asn) n.85+1765G>A | gnomAD v4 |
11 | g.72243816G>A | CA475598219 | PHOX2A | c.189C>T (p.Arg63=) n.85+1764C>T | gnomAD v4 COSMIC |
11 | g.72243816G>C | CA475598223 | PHOX2A | c.189C>G (p.Arg63=) n.85+1764C>G | gnomAD v4 |
11 | g.72243816G>T | CA475598221 | PHOX2A | c.189C>A (p.Arg63=) n.85+1764C>A | gnomAD v4 |
11 | g.72243817C>A | CA381746306 | PHOX2A | c.188G>T (p.Arg63Leu) n.85+1763G>T | gnomAD v4 |
11 | g.72243817C= | CA1981904773 | PHOX2A | c.188G= (p.Arg63=) n.85+1763G= | |
11 | g.72243817C>G | CA381746308 | PHOX2A | c.188G>C (p.Arg63Pro) n.85+1763G>C | |
11 | g.72243817C>T | CA381746311 | PHOX2A | c.188G>A (p.Arg63His) n.85+1763G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243818G>A | CA381746342 | PHOX2A | c.187C>T (p.Arg63Cys) n.85+1762C>T | gnomAD v4 |
11 | g.72243818G>C | CA381746322 | PHOX2A | c.187C>G (p.Arg63Gly) n.85+1762C>G | gnomAD v4 |
11 | g.72243818G= | CA1981904774 | PHOX2A | c.187C= (p.Arg63=) n.85+1762C= | |
11 | g.72243818G>T | CA381746325 | PHOX2A | c.187C>A (p.Arg63Ser) n.85+1762C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243819T>A | CA224385832 | PHOX2A | c.186A>T (p.Leu62=) n.85+1761A>T | dbSNP |
11 | g.72243819T>C | CA224385834 | PHOX2A | c.186A>G (p.Leu62=) n.85+1761A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72243819T>G | CA475598226 | PHOX2A | c.186A>C (p.Leu62=) n.85+1761A>C | |
11 | g.72243819T= | CA1981904775 | PHOX2A | c.186A= (p.Leu62=) n.85+1761A= | |
11 | g.72243820A>C | CA381746346 | PHOX2A | c.185T>G (p.Leu62Arg) n.85+1760T>G | |
11 | g.72243820A>G | CA381746352 | PHOX2A | c.185T>C (p.Leu62Pro) n.85+1760T>C | gnomAD v4 |
11 | g.72243820A>T | CA381746358 | PHOX2A | c.185T>A (p.Leu62Gln) n.85+1760T>A | |
11 | g.72243821G>A | CA475598227 | PHOX2A | c.184C>T (p.Leu62=) n.85+1759C>T | gnomAD v4 |
11 | g.72243821G>C | CA224385838 | PHOX2A | c.184C>G (p.Leu62Val) n.85+1759C>G | dbSNP |
11 | g.72243821G= | CA1981904776 | PHOX2A | c.184C= (p.Leu62=) n.85+1759C= | |
11 | g.72243821G>T | CA381746367 | PHOX2A | c.184C>A (p.Leu62Ile) n.85+1759C>A | gnomAD v4 |
11 | g.72243823del | CA2614940493 | PHOX2A | c.184del (p.Leu62TyrfsTer?) n.85+1759del | gnomAD v4 |
11 | g.72243822G>A | CA475598228 | PHOX2A | c.183C>T (p.Ala61=) n.85+1758C>T | gnomAD v4 |
11 | g.72243822G>C | CA475598230 | PHOX2A | c.183C>G (p.Ala61=) n.85+1758C>G | |
11 | g.72243822G>T | CA475598232 | PHOX2A | c.183C>A (p.Ala61=) n.85+1758C>A | gnomAD v4 |
11 | g.72243823G>A | CA381746392 | PHOX2A | c.182C>T (p.Ala61Val) n.85+1757C>T | gnomAD v4 |
11 | g.72243823G>C | CA381746372 | PHOX2A | c.182C>G (p.Ala61Gly) n.85+1757C>G | |
11 | g.72243823G>T | CA381746389 | PHOX2A | c.182C>A (p.Ala61Asp) n.85+1757C>A | gnomAD v4 |
11 | g.72243824C>A | CA224385844 | PHOX2A | c.181G>T (p.Ala61Ser) n.85+1756G>T | dbSNP gnomAD v4 |
11 | g.72243824C= | CA1981904777 | PHOX2A | c.181G= (p.Ala61=) n.85+1756G= | |
11 | g.72243824C>G | CA381746398 | PHOX2A | c.181G>C (p.Ala61Pro) n.85+1756G>C | gnomAD v4 |
11 | g.72243824C>T | CA381746400 | PHOX2A | c.181G>A (p.Ala61Thr) n.85+1756G>A | gnomAD v4 |
11 | g.72243825G>A | CA475598236 | PHOX2A | c.180C>T (p.Gly60=) n.85+1755C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243825G>C | CA475598234 | PHOX2A | c.180C>G (p.Gly60=) n.85+1755C>G | |
11 | g.72243825G= | CA1981904778 | PHOX2A | c.180C= (p.Gly60=) n.85+1755C= | |
11 | g.72243825G>T | CA475598235 | PHOX2A | c.180C>A (p.Gly60=) n.85+1755C>A | dbSNP gnomAD v4 |
11 | g.72243826C>A | CA381746406 | PHOX2A | c.179G>T (p.Gly60Val) n.85+1754G>T | gnomAD v4 |
11 | g.72243826C= | CA1981904779 | PHOX2A | c.179G= (p.Gly60=) n.85+1754G= | |
11 | g.72243826C>G | CA381746410 | PHOX2A | c.179G>C (p.Gly60Ala) n.85+1754G>C | |
11 | g.72243826C>T | CA381746418 | PHOX2A | c.179G>A (p.Gly60Asp) n.85+1754G>A | dbSNP gnomAD v4 |
11 | g.72243827C>A | CA381746425 | PHOX2A | c.178G>T (p.Gly60Cys) n.85+1753G>T | gnomAD v4 |
11 | g.72243827C>G | CA381746428 | PHOX2A | c.178G>C (p.Gly60Arg) n.85+1753G>C | |
11 | g.72243827C>T | CA381746432 | PHOX2A | c.178G>A (p.Gly60Ser) n.85+1753G>A | gnomAD v4 |
11 | g.72243828A= | CA1981904780 | PHOX2A | c.177T= (p.Leu59=) n.85+1752T= | |
11 | g.72243828A>C | CA475598238 | PHOX2A | c.177T>G (p.Leu59=) n.85+1752T>G | dbSNP gnomAD v4 |
11 | g.72243828A>G | CA475598240 | PHOX2A | c.177T>C (p.Leu59=) n.85+1752T>C | gnomAD v4 |
11 | g.72243828A>T | CA475598242 | PHOX2A | c.177T>A (p.Leu59=) n.85+1752T>A | |
11 | g.72243829A>C | CA381746434 | PHOX2A | c.176T>G (p.Leu59Arg) n.85+1751T>G | |
11 | g.72243829A>G | CA381746436 | PHOX2A | c.176T>C (p.Leu59Pro) n.85+1751T>C | gnomAD v4 |
11 | g.72243829A>T | CA381746439 | PHOX2A | c.176T>A (p.Leu59His) n.85+1751T>A | |
11 | g.72243830G>A | CA381746450 | PHOX2A | c.175C>T (p.Leu59Phe) n.85+1750C>T | |
11 | g.72243830G>C | CA381746460 | PHOX2A | c.175C>G (p.Leu59Val) n.85+1750C>G | |
11 | g.72243830G>T | CA381746454 | PHOX2A | c.175C>A (p.Leu59Ile) n.85+1750C>A | gnomAD v4 |
11 | g.72243830_72243831insCTG | CA2614940528 | PHOX2A | c.175_176insAGC (p.Ala58_Leu59insGln) n.85+1750_85+1751insAGC | gnomAD v4 |
11 | g.72243831T>A | CA475598245 | PHOX2A | c.174A>T (p.Ala58=) n.85+1749A>T | dbSNP |
11 | g.72243831T>C | CA475598244 | PHOX2A | c.174A>G (p.Ala58=) n.85+1749A>G | gnomAD v4 |
11 | g.72243831T>G | CA6170931 | PHOX2A | c.174A>C (p.Ala58=) n.85+1749A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243831T= | CA1981904781 | PHOX2A | c.174A= (p.Ala58=) n.85+1749A= | |
11 | g.72243832G>A | CA381746468 | PHOX2A | c.173C>T (p.Ala58Val) n.85+1748C>T | gnomAD v4 |
11 | g.72243832G>C | CA381746471 | PHOX2A | c.173C>G (p.Ala58Gly) n.85+1748C>G | |
11 | g.72243832G>T | CA381746475 | PHOX2A | c.173C>A (p.Ala58Glu) n.85+1748C>A | gnomAD v4 |
11 | g.72243833_72243837del | CA2614940530 | PHOX2A | c.169_173del (p.Cys57ThrfsTer?) n.85+1744_85+1748del | gnomAD v4 |
11 | g.72243833C>A | CA6170932 | PHOX2A | c.172G>T (p.Ala58Ser) n.85+1747G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243833C= | CA1981904782 | PHOX2A | c.172G= (p.Ala58=) n.85+1747G= | |
11 | g.72243833C>G | CA381746479 | PHOX2A | c.172G>C (p.Ala58Pro) n.85+1747G>C | |
11 | g.72243833C>T | CA381746481 | PHOX2A | c.172G>A (p.Ala58Thr) n.85+1747G>A | gnomAD v4 |
11 | g.72243834G>A | CA475598246 | PHOX2A | c.171C>T (p.Cys57=) n.85+1746C>T | dbSNP gnomAD v4 |
11 | g.72243834G>C | CA381746495 | PHOX2A | c.171C>G (p.Cys57Trp) n.85+1746C>G | |
11 | g.72243834G= | CA1981904783 | PHOX2A | c.171C= (p.Cys57=) n.85+1746C= | |
11 | g.72243834G>T | CA381746496 | PHOX2A | c.171C>A (p.Cys57Ter) n.85+1746C>A | gnomAD v4 |
11 | g.72243835C>A | CA381746497 | PHOX2A | c.170G>T (p.Cys57Phe) n.85+1745G>T | gnomAD v4 |
11 | g.72243835C>G | CA381746498 | PHOX2A | c.170G>C (p.Cys57Ser) n.85+1745G>C | gnomAD v4 |
11 | g.72243835C>T | CA381746503 | PHOX2A | c.170G>A (p.Cys57Tyr) n.85+1745G>A | gnomAD v4 |
11 | g.72243836A>C | CA381746513 | PHOX2A | c.169T>G (p.Cys57Gly) n.85+1744T>G | gnomAD v4 |
11 | g.72243836A>G | CA381746508 | PHOX2A | c.169T>C (p.Cys57Arg) n.85+1744T>C | gnomAD v4 |
11 | g.72243836A>T | CA381746511 | PHOX2A | c.169T>A (p.Cys57Ser) n.85+1744T>A | |
11 | g.72243837G>A | CA475598249 | PHOX2A | c.168C>T (p.Asn56=) n.85+1743C>T | gnomAD v4 |
11 | g.72243837G>C | CA381746515 | PHOX2A | c.168C>G (p.Asn56Lys) n.85+1743C>G | COSMIC |
11 | g.72243837G>T | CA381746526 | PHOX2A | c.168C>A (p.Asn56Lys) n.85+1743C>A | gnomAD v4 |
11 | g.72243838T>A | CA381746529 | PHOX2A | c.167A>T (p.Asn56Ile) n.85+1742A>T | |
11 | g.72243838T>C | CA381746538 | PHOX2A | c.167A>G (p.Asn56Ser) n.85+1742A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243838T>G | CA381746539 | PHOX2A | c.167A>C (p.Asn56Thr) n.85+1742A>C | gnomAD v4 |
11 | g.72243838T= | CA1981904784 | PHOX2A | c.167A= (p.Asn56=) n.85+1742A= | |
11 | g.72243839T>A | CA381746540 | PHOX2A | c.166A>T (p.Asn56Tyr) n.85+1741A>T | |
11 | g.72243839T>C | CA381746541 | PHOX2A | c.166A>G (p.Asn56Asp) n.85+1741A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243839T>G | CA381746542 | PHOX2A | c.166A>C (p.Asn56His) n.85+1741A>C | gnomAD v4 |
11 | g.72243839T= | CA1981904785 | PHOX2A | c.166A= (p.Asn56=) n.85+1741A= | |
11 | g.72243840G>A | CA475598253 | PHOX2A | c.165C>T (p.Ser55=) n.85+1740C>T | gnomAD v4 |
11 | g.72243840G>C | CA475598254 | PHOX2A | c.165C>G (p.Ser55=) n.85+1740C>G | gnomAD v4 |
11 | g.72243840G>T | CA475598255 | PHOX2A | c.165C>A (p.Ser55=) n.85+1740C>A | gnomAD v4 |
11 | g.72243841G>A | CA381746543 | PHOX2A | c.164C>T (p.Ser55Phe) n.85+1739C>T | |
11 | g.72243841G>C | CA381746544 | PHOX2A | c.164C>G (p.Ser55Cys) n.85+1739C>G | |
11 | g.72243841G>T | CA381746545 | PHOX2A | c.164C>A (p.Ser55Tyr) n.85+1739C>A | gnomAD v4 |
11 | g.72243842A>C | CA381746554 | PHOX2A | c.163T>G (p.Ser55Ala) n.85+1738T>G | |
11 | g.72243842A>G | CA381746552 | PHOX2A | c.163T>C (p.Ser55Pro) n.85+1738T>C | gnomAD v4 |
11 | g.72243842A>T | CA381746547 | PHOX2A | c.163T>A (p.Ser55Thr) n.85+1738T>A | gnomAD v4 |
11 | g.72243843G>A | CA475598257 | PHOX2A | c.162C>T (p.Ser54=) n.85+1737C>T | gnomAD v4 |
11 | g.72243843G>C | CA475598258 | PHOX2A | c.162C>G (p.Ser54=) n.85+1737C>G | |
11 | g.72243843G>T | CA475598259 | PHOX2A | c.162C>A (p.Ser54=) n.85+1737C>A | gnomAD v4 |
11 | g.72243844G>A | CA381746557 | PHOX2A | c.161C>T (p.Ser54Phe) n.85+1736C>T | gnomAD v4 |
11 | g.72243844G>C | CA381746564 | PHOX2A | c.161C>G (p.Ser54Cys) n.85+1736C>G | |
11 | g.72243844G>T | CA381746560 | PHOX2A | c.161C>A (p.Ser54Tyr) n.85+1736C>A | gnomAD v4 |
11 | g.72243845A>C | CA381746566 | PHOX2A | c.160T>G (p.Ser54Ala) n.85+1735T>G | |
11 | g.72243845A>G | CA381746569 | PHOX2A | c.160T>C (p.Ser54Pro) n.85+1735T>C | gnomAD v4 |
11 | g.72243845A>T | CA381746571 | PHOX2A | c.160T>A (p.Ser54Thr) n.85+1735T>A | |
11 | g.72243846G>A | CA475598265 | PHOX2A | c.159C>T (p.Gly53=) n.85+1734C>T | gnomAD v4 |
11 | g.72243846G>C | CA475598263 | PHOX2A | c.159C>G (p.Gly53=) n.85+1734C>G | |
11 | g.72243846G>T | CA475598264 | PHOX2A | c.159C>A (p.Gly53=) n.85+1734C>A | gnomAD v4 |
11 | g.72243847C>A | CA381746573 | PHOX2A | c.158G>T (p.Gly53Val) n.85+1733G>T | gnomAD v4 |
11 | g.72243847C>G | CA381746575 | PHOX2A | c.158G>C (p.Gly53Ala) n.85+1733G>C | |
11 | g.72243847C>T | CA381746577 | PHOX2A | c.158G>A (p.Gly53Asp) n.85+1733G>A | gnomAD v3 gnomAD v4 |
11 | g.72243848C>A | CA381746581 | PHOX2A | c.157G>T (p.Gly53Cys) n.85+1732G>T | gnomAD v4 |
11 | g.72243848C= | CA1981904786 | PHOX2A | c.157G= (p.Gly53=) n.85+1732G= | |
11 | g.72243848C>G | CA381746583 | PHOX2A | c.157G>C (p.Gly53Arg) n.85+1732G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243848C>T | CA381746585 | PHOX2A | c.157G>A (p.Gly53Ser) n.85+1732G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243849G>A | CA6170933 | PHOX2A | c.156C>T (p.Leu52=) n.85+1731C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243849G>C | CA475598267 | PHOX2A | c.156C>G (p.Leu52=) n.85+1731C>G | |
11 | g.72243849G= | CA1981904787 | PHOX2A | c.156C= (p.Leu52=) n.85+1731C= | |
11 | g.72243849G>T | CA475598268 | PHOX2A | c.156C>A (p.Leu52=) n.85+1731C>A | gnomAD v4 |
11 | g.72243850del | CA2614940577 | PHOX2A | c.155del (p.Leu52ProfsTer?) n.85+1730del | gnomAD v4 |
11 | g.72243850A>C | CA381746600 | PHOX2A | c.155T>G (p.Leu52Arg) n.85+1730T>G | |
11 | g.72243850A>G | CA381746595 | PHOX2A | c.155T>C (p.Leu52Pro) n.85+1730T>C | gnomAD v4 |
11 | g.72243850A>T | CA381746593 | PHOX2A | c.155T>A (p.Leu52His) n.85+1730T>A | gnomAD v4 |
11 | g.72243851G>A | CA381746603 | PHOX2A | c.154C>T (p.Leu52Phe) n.85+1729C>T | gnomAD v4 |
11 | g.72243851G>C | CA381746604 | PHOX2A | c.154C>G (p.Leu52Val) n.85+1729C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243851G= | CA1981904788 | PHOX2A | c.154C= (p.Leu52=) n.85+1729C= | |
11 | g.72243851G>T | CA381746607 | PHOX2A | c.154C>A (p.Leu52Ile) n.85+1729C>A | gnomAD v4 |
11 | g.72243852del | CA2614940604 | PHOX2A | c.153del (p.Leu52SerfsTer?) n.85+1728del | gnomAD v4 |
11 | g.72243852C>A | CA475598269 | PHOX2A | c.153G>T (p.Ala51=) n.85+1728G>T | gnomAD v4 |
11 | g.72243852C>G | CA475598270 | PHOX2A | c.153G>C (p.Ala51=) n.85+1728G>C | |
11 | g.72243852C>T | CA475598271 | PHOX2A | c.153G>A (p.Ala51=) n.85+1728G>A | gnomAD v4 |
11 | g.72243853G>A | CA381746610 | PHOX2A | c.152C>T (p.Ala51Val) n.85+1727C>T | gnomAD v4 |
11 | g.72243853G>C | CA381746612 | PHOX2A | c.152C>G (p.Ala51Gly) n.85+1727C>G | |
11 | g.72243853G>T | CA381746615 | PHOX2A | c.152C>A (p.Ala51Glu) n.85+1727C>A | gnomAD v4 |
11 | g.72243854C>A | CA381746617 | PHOX2A | c.151G>T (p.Ala51Ser) n.85+1726G>T | gnomAD v3 gnomAD v4 |
11 | g.72243854C>G | CA381746621 | PHOX2A | c.151G>C (p.Ala51Pro) n.85+1726G>C | gnomAD v4 |
11 | g.72243854C>T | CA381746624 | PHOX2A | c.151G>A (p.Ala51Thr) n.85+1726G>A | gnomAD v4 |
11 | g.72243855G>A | CA475598273 | PHOX2A | c.150C>T (p.Pro50=) n.85+1725C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243855G>C | CA475598274 | PHOX2A | c.150C>G (p.Pro50=) n.85+1725C>G | dbSNP gnomAD v4 |
11 | g.72243855G= | CA1981904789 | PHOX2A | c.150C= (p.Pro50=) n.85+1725C= | |
11 | g.72243855G>T | CA475598275 | PHOX2A | c.150C>A (p.Pro50=) n.85+1725C>A | gnomAD v4 |
11 | g.72243858del | CA2614940615 | PHOX2A | c.150del (p.Ala51ArgfsTer?) n.85+1725del | gnomAD v4 |
11 | g.72243856G>A | CA381746640 | PHOX2A | c.149C>T (p.Pro50Leu) n.85+1724C>T | gnomAD v4 |
11 | g.72243856G>C | CA381746642 | PHOX2A | c.149C>G (p.Pro50Arg) n.85+1724C>G | gnomAD v4 |
11 | g.72243856G>T | CA381746644 | PHOX2A | c.149C>A (p.Pro50His) n.85+1724C>A | gnomAD v4 |
11 | g.72243857G>A | CA381746656 | PHOX2A | c.148C>T (p.Pro50Ser) n.85+1723C>T | gnomAD v4 |
11 | g.72243857G>C | CA381746657 | PHOX2A | c.148C>G (p.Pro50Ala) n.85+1723C>G | dbSNP |
11 | g.72243857G= | CA1981904790 | PHOX2A | c.148C= (p.Pro50=) n.85+1723C= | |
11 | g.72243857G>T | CA381746654 | PHOX2A | c.148C>A (p.Pro50Thr) n.85+1723C>A | gnomAD v4 |
11 | g.72243857_72243858insTCGGGTGACCTAT | CA2792651247 | PHOX2A | c.147_148insATAGGTCACCCGA (p.Pro50IlefsTer?) n.85+1722_85+1723insATAGGTCACCCGA | |
11 | g.72243858G>A | CA475598276 | PHOX2A | c.147C>T (p.Cys49=) n.85+1722C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243858G>C | CA381746660 | PHOX2A | c.147C>G (p.Cys49Trp) n.85+1722C>G | gnomAD v4 |
11 | g.72243858G= | CA1981904791 | PHOX2A | c.147C= (p.Cys49=) n.85+1722C= | |
11 | g.72243858G>T | CA381746666 | PHOX2A | c.147C>A (p.Cys49Ter) n.85+1722C>A | gnomAD v4 |
11 | g.72243859C>A | CA381746669 | PHOX2A | c.146G>T (p.Cys49Phe) n.85+1721G>T | gnomAD v4 |
11 | g.72243859C>G | CA381746672 | PHOX2A | c.146G>C (p.Cys49Ser) n.85+1721G>C | |
11 | g.72243859C>T | CA381746676 | PHOX2A | c.146G>A (p.Cys49Tyr) n.85+1721G>A | gnomAD v4 |
11 | g.72243860A>C | CA381746686 | PHOX2A | c.145T>G (p.Cys49Gly) n.85+1720T>G | |
11 | g.72243860A>G | CA381746684 | PHOX2A | c.145T>C (p.Cys49Arg) n.85+1720T>C | gnomAD v4 |
11 | g.72243860A>T | CA381746681 | PHOX2A | c.145T>A (p.Cys49Ser) n.85+1720T>A | gnomAD v4 |
11 | g.72243861G>A | CA475598277 | PHOX2A | c.144C>T (p.Pro48=) n.85+1719C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72243861G>C | CA475598278 | PHOX2A | c.144C>G (p.Pro48=) n.85+1719C>G | |
11 | g.72243861G= | CA1981904792 | PHOX2A | c.144C= (p.Pro48=) n.85+1719C= | |
11 | g.72243861G>T | CA475598279 | PHOX2A | c.144C>A (p.Pro48=) n.85+1719C>A | gnomAD v4 |
11 | g.72243862G>A | CA224385854 | PHOX2A | c.143C>T (p.Pro48Leu) n.85+1718C>T | dbSNP gnomAD v4 |
11 | g.72243862G>C | CA381746709 | PHOX2A | c.143C>G (p.Pro48Arg) n.85+1718C>G | gnomAD v4 |
11 | g.72243862G= | CA1981904793 | PHOX2A | c.143C= (p.Pro48=) n.85+1718C= | |
11 | g.72243862G>T | CA381746712 | PHOX2A | c.143C>A (p.Pro48His) n.85+1718C>A | gnomAD v4 |
11 | g.72243863G>A | CA381746714 | PHOX2A | c.142C>T (p.Pro48Ser) n.85+1717C>T | dbSNP gnomAD v4 |
11 | g.72243863G>C | CA381746717 | PHOX2A | c.142C>G (p.Pro48Ala) n.85+1717C>G | |
11 | g.72243863G= | CA1981904794 | PHOX2A | c.142C= (p.Pro48=) n.85+1717C= | |
11 | g.72243863G>T | CA381746720 | PHOX2A | c.142C>A (p.Pro48Thr) n.85+1717C>A | gnomAD v4 |
11 | g.72243864C>A | CA475598280 | PHOX2A | c.141G>T (p.Pro47=) n.85+1716G>T | dbSNP gnomAD v4 |
11 | g.72243864C>G | CA475598281 | PHOX2A | c.141G>C (p.Pro47=) n.85+1716G>C | |
11 | g.72243864C>T | CA475598282 | PHOX2A | c.141G>A (p.Pro47=) n.85+1716G>A | gnomAD v4 |
11 | g.72243865G>A | CA381746728 | PHOX2A | c.140C>T (p.Pro47Leu) n.85+1715C>T | gnomAD v4 |
11 | g.72243865G>C | CA381746732 | PHOX2A | c.140C>G (p.Pro47Arg) n.85+1715C>G | |
11 | g.72243865G>T | CA381746731 | PHOX2A | c.140C>A (p.Pro47Gln) n.85+1715C>A | gnomAD v4 |
11 | g.72243866G>A | CA381746735 | PHOX2A | c.139C>T (p.Pro47Ser) n.85+1714C>T | gnomAD v4 |
11 | g.72243866G>C | CA381746737 | PHOX2A | c.139C>G (p.Pro47Ala) n.85+1714C>G | gnomAD v4 |
11 | g.72243866G>T | CA381746739 | PHOX2A | c.139C>A (p.Pro47Thr) n.85+1714C>A | gnomAD v4 |
11 | g.72243867C>A | CA475598285 | PHOX2A | c.138G>T (p.Gly46=) n.85+1713G>T | gnomAD v4 |
11 | g.72243867C>G | CA475598284 | PHOX2A | c.138G>C (p.Gly46=) n.85+1713G>C | |
11 | g.72243867C>T | CA475598283 | PHOX2A | c.138G>A (p.Gly46=) n.85+1713G>A | dbSNP gnomAD v4 |
11 | g.72243869del | CA2614940681 | PHOX2A | c.138del (p.Pro47ArgfsTer?) n.85+1713del | gnomAD v4 |
11 | g.72243868C>A | CA381746741 | PHOX2A | c.137G>T (p.Gly46Val) n.85+1712G>T | gnomAD v4 |
11 | g.72243868C>G | CA381746744 | PHOX2A | c.137G>C (p.Gly46Ala) n.85+1712G>C | |
11 | g.72243868C>T | CA381746752 | PHOX2A | c.137G>A (p.Gly46Glu) n.85+1712G>A | |
11 | g.72243869C>A | CA381746755 | PHOX2A | c.136G>T (p.Gly46Trp) n.85+1711G>T | gnomAD v4 |
11 | g.72243869C= | CA1981904795 | PHOX2A | c.136G= (p.Gly46=) n.85+1711G= | |
11 | g.72243869C>G | CA381746757 | PHOX2A | c.136G>C (p.Gly46Arg) n.85+1711G>C | |
11 | g.72243869C>T | CA381746762 | PHOX2A | c.136G>A (p.Gly46Arg) n.85+1711G>A | dbSNP gnomAD v4 |
11 | g.72243870del | CA2614940684 | PHOX2A | c.135del (p.Pro47ArgfsTer?) n.85+1710del | gnomAD v4 |
11 | g.72243870T>A | CA475598286 | PHOX2A | c.135A>T (p.Ala45=) n.85+1710A>T | gnomAD v4 |
11 | g.72243870T>C | CA475598287 | PHOX2A | c.135A>G (p.Ala45=) n.85+1710A>G | dbSNP gnomAD v4 |
11 | g.72243870T>G | CA475598288 | PHOX2A | c.135A>C (p.Ala45=) n.85+1710A>C | gnomAD v4 |
11 | g.72243870T= | CA1981904796 | PHOX2A | c.135A= (p.Ala45=) n.85+1710A= | |
11 | g.72243871G>A | CA381746767 | PHOX2A | c.134C>T (p.Ala45Val) n.85+1709C>T | gnomAD v4 |
11 | g.72243871G>C | CA381746770 | PHOX2A | c.134C>G (p.Ala45Gly) n.85+1709C>G | |
11 | g.72243871G>T | CA381746774 | PHOX2A | c.134C>A (p.Ala45Glu) n.85+1709C>A | gnomAD v4 |
11 | g.72243872C>A | CA381746777 | PHOX2A | c.133G>T (p.Ala45Ser) n.85+1708G>T | gnomAD v4 |
11 | g.72243872C>G | CA381746783 | PHOX2A | c.133G>C (p.Ala45Pro) n.85+1708G>C | gnomAD v4 |
11 | g.72243872C>T | CA381746780 | PHOX2A | c.133G>A (p.Ala45Thr) n.85+1708G>A | gnomAD v4 |
11 | g.72243872_72243873dup | CA2574913680 | PHOX2A | c.132_133dup (p.Ala45GlyfsTer?) n.85+1707_85+1708dup | |
11 | g.72243873C>A | CA475598289 | PHOX2A | c.132G>T (p.Ala44=) n.85+1707G>T | gnomAD v4 |
11 | g.72243873C= | CA1981904797 | PHOX2A | c.132G= (p.Ala44=) n.85+1707G= | |
11 | g.72243873C>G | CA475598291 | PHOX2A | c.132G>C (p.Ala44=) n.85+1707G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243873C>T | CA475598290 | PHOX2A | c.132G>A (p.Ala44=) n.85+1707G>A | dbSNP gnomAD v4 |
11 | g.72243874G>A | CA381746785 | PHOX2A | c.131C>T (p.Ala44Val) n.85+1706C>T | gnomAD v4 |
11 | g.72243874G>C | CA381746791 | PHOX2A | c.131C>G (p.Ala44Gly) n.85+1706C>G | |
11 | g.72243874G= | CA1981904798 | PHOX2A | c.131C= (p.Ala44=) n.85+1706C= | |
11 | g.72243874G>T | CA381746788 | PHOX2A | c.131C>A (p.Ala44Glu) n.85+1706C>A | dbSNP gnomAD v4 |
11 | g.72243875del | CA2614940692 | PHOX2A | c.130del (p.Ala44ArgfsTer?) n.85+1705del | gnomAD v4 |
11 | g.72243875C>A | CA381746798 | PHOX2A | c.130G>T (p.Ala44Ser) n.85+1705G>T | gnomAD v4 |
11 | g.72243875C>G | CA381746801 | PHOX2A | c.130G>C (p.Ala44Pro) n.85+1705G>C | gnomAD v4 |
11 | g.72243875C>T | CA381746799 | PHOX2A | c.130G>A (p.Ala44Thr) n.85+1705G>A | gnomAD v4 |
11 | g.72243876G>A | CA475598292 | PHOX2A | c.129C>T (p.Pro43=) n.85+1704C>T | gnomAD v4 |
11 | g.72243876G>C | CA475598293 | PHOX2A | c.129C>G (p.Pro43=) n.85+1704C>G | |
11 | g.72243876G>T | CA475598294 | PHOX2A | c.129C>A (p.Pro43=) n.85+1704C>A | gnomAD v4 |
11 | g.72243879dup | CA2614940694 | PHOX2A | c.129dup (p.Ala44ArgfsTer?) n.85+1704dup | gnomAD v4 |
11 | g.72243879del | CA2614940695 | PHOX2A | c.129del (p.Ala44ArgfsTer?) n.85+1704del | gnomAD v4 |
11 | g.72243877G>A | CA381746805 | PHOX2A | c.128C>T (p.Pro43Leu) n.85+1703C>T | gnomAD v4 |
11 | g.72243877G>C | CA381746813 | PHOX2A | c.128C>G (p.Pro43Arg) n.85+1703C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243877G= | CA1981904799 | PHOX2A | c.128C= (p.Pro43=) n.85+1703C= | |
11 | g.72243877G>T | CA381746809 | PHOX2A | c.128C>A (p.Pro43His) n.85+1703C>A | gnomAD v4 |
11 | g.72243878G>A | CA381746815 | PHOX2A | c.127C>T (p.Pro43Ser) n.85+1702C>T | gnomAD v4 |
11 | g.72243878G>C | CA381746817 | PHOX2A | c.127C>G (p.Pro43Ala) n.85+1702C>G | |
11 | g.72243878G>T | CA381746823 | PHOX2A | c.127C>A (p.Pro43Thr) n.85+1702C>A | gnomAD v4 |
11 | g.72243879G>A | CA475598295 | PHOX2A | c.126C>T (p.Phe42=) n.85+1701C>T | gnomAD v4 COSMIC |
11 | g.72243879G>C | CA381746828 | PHOX2A | c.126C>G (p.Phe42Leu) n.85+1701C>G | |
11 | g.72243879G>T | CA381746830 | PHOX2A | c.126C>A (p.Phe42Leu) n.85+1701C>A | gnomAD v4 |
11 | g.72243880A>C | CA381746835 | PHOX2A | c.125T>G (p.Phe42Cys) n.85+1700T>G | |
11 | g.72243880A>G | CA381746838 | PHOX2A | c.125T>C (p.Phe42Ser) n.85+1700T>C | gnomAD v4 |
11 | g.72243880A>T | CA381746841 | PHOX2A | c.125T>A (p.Phe42Tyr) n.85+1700T>A | |
11 | g.72243882del | CA2614940700 | PHOX2A | c.125del (p.Phe42SerfsTer?) n.85+1700del | gnomAD v4 |
11 | g.72243881A= | CA1981904800 | PHOX2A | c.124T= (p.Phe42=) n.85+1699T= | |
11 | g.72243881A>C | CA6170934 | PHOX2A | c.124T>G (p.Phe42Val) n.85+1699T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243881A>G | CA381746846 | PHOX2A | c.124T>C (p.Phe42Leu) n.85+1699T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243881A>T | CA381746849 | PHOX2A | c.124T>A (p.Phe42Ile) n.85+1699T>A | |
11 | g.72243882A= | CA1981904801 | PHOX2A | c.123T= (p.Ala41=) n.85+1698T= | |
11 | g.72243882A>C | CA475598296 | PHOX2A | c.123T>G (p.Ala41=) n.85+1698T>G | gnomAD v4 |
11 | g.72243882A>G | CA224385863 | PHOX2A | c.123T>C (p.Ala41=) n.85+1698T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243882A>T | CA475598297 | PHOX2A | c.123T>A (p.Ala41=) n.85+1698T>A | gnomAD v4 |
11 | g.72243883G>A | CA381746861 | PHOX2A | c.122C>T (p.Ala41Val) n.85+1697C>T | gnomAD v4 |
11 | g.72243883G>C | CA381746855 | PHOX2A | c.122C>G (p.Ala41Gly) n.85+1697C>G | gnomAD v4 |
11 | g.72243883G>T | CA381746858 | PHOX2A | c.122C>A (p.Ala41Asp) n.85+1697C>A | gnomAD v4 |
11 | g.72243884C>A | CA381746864 | PHOX2A | c.121G>T (p.Ala41Ser) n.85+1696G>T | gnomAD v4 |
11 | g.72243884C>G | CA381746867 | PHOX2A | c.121G>C (p.Ala41Pro) n.85+1696G>C | gnomAD v4 |
11 | g.72243884C>T | CA381746869 | PHOX2A | c.121G>A (p.Ala41Thr) n.85+1696G>A | gnomAD v4 |
11 | g.72243885G>A | CA475598298 | PHOX2A | c.120C>T (p.Pro40=) n.85+1695C>T | gnomAD v4 |
11 | g.72243885G>C | CA475598299 | PHOX2A | c.120C>G (p.Pro40=) n.85+1695C>G | gnomAD v4 |
11 | g.72243885G>T | CA475598300 | PHOX2A | c.120C>A (p.Pro40=) n.85+1695C>A | gnomAD v4 |
11 | g.72243886G>A | CA381746872 | PHOX2A | c.119C>T (p.Pro40Leu) n.85+1694C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243886G>C | CA381746885 | PHOX2A | c.119C>G (p.Pro40Arg) n.85+1694C>G | |
11 | g.72243886G= | CA1981904802 | PHOX2A | c.119C= (p.Pro40=) n.85+1694C= | |
11 | g.72243886G>T | CA381746890 | PHOX2A | c.119C>A (p.Pro40His) n.85+1694C>A | gnomAD v4 |
11 | g.72243887G>A | CA6170935 | PHOX2A | c.118C>T (p.Pro40Ser) n.85+1693C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243887G>C | CA381746897 | PHOX2A | c.118C>G (p.Pro40Ala) n.85+1693C>G | dbSNP gnomAD v4 |
11 | g.72243887G= | CA1981904803 | PHOX2A | c.118C= (p.Pro40=) n.85+1693C= | |
11 | g.72243887G>T | CA381746898 | PHOX2A | c.118C>A (p.Pro40Thr) n.85+1693C>A | gnomAD v4 |
11 | g.72243888C>A | CA475598303 | PHOX2A | c.117G>T (p.Arg39=) n.85+1692G>T | gnomAD v4 |
11 | g.72243888C>G | CA475598301 | PHOX2A | c.117G>C (p.Arg39=) n.85+1692G>C | |
11 | g.72243888C>T | CA475598302 | PHOX2A | c.117G>A (p.Arg39=) n.85+1692G>A | gnomAD v4 |
11 | g.72243889C>A | CA381746901 | PHOX2A | c.116G>T (p.Arg39Leu) n.85+1691G>T | gnomAD v4 |
11 | g.72243889C= | CA1981904804 | PHOX2A | c.116G= (p.Arg39=) n.85+1691G= | |
11 | g.72243889C>G | CA381746900 | PHOX2A | c.116G>C (p.Arg39Pro) n.85+1691G>C | |
11 | g.72243889C>T | CA381746899 | PHOX2A | c.116G>A (p.Arg39Gln) n.85+1691G>A | dbSNP gnomAD v4 |
11 | g.72243890G>A | CA381746903 | PHOX2A | c.115C>T (p.Arg39Trp) n.85+1690C>T | gnomAD v4 |
11 | g.72243890G>C | CA381746905 | PHOX2A | c.115C>G (p.Arg39Gly) n.85+1690C>G | |
11 | g.72243890G= | CA1981904805 | PHOX2A | c.115C= (p.Arg39=) n.85+1690C= | |
11 | g.72243890G>T | CA475598304 | PHOX2A | c.115C>A (p.Arg39=) n.85+1690C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243891C>A | CA475598305 | PHOX2A | c.114G>T (p.Leu38=) n.85+1689G>T | gnomAD v4 |
11 | g.72243891C>G | CA475598306 | PHOX2A | c.114G>C (p.Leu38=) n.85+1689G>C | |
11 | g.72243891C>T | CA475598307 | PHOX2A | c.114G>A (p.Leu38=) n.85+1689G>A | gnomAD v4 |
11 | g.72243892A>C | CA381746909 | PHOX2A | c.113T>G (p.Leu38Arg) n.85+1688T>G | |
11 | g.72243892A>G | CA381746911 | PHOX2A | c.113T>C (p.Leu38Pro) n.85+1688T>C | gnomAD v4 |
11 | g.72243892A>T | CA381746915 | PHOX2A | c.113T>A (p.Leu38Gln) n.85+1688T>A | gnomAD v4 |
11 | g.72243892_72243893insT | CA2614940738 | PHOX2A | c.112_113insA (p.Leu38HisfsTer?) n.85+1687_85+1688insA | gnomAD v4 |
11 | g.72243893G>A | CA475598308 | PHOX2A | c.112C>T (p.Leu38=) n.85+1687C>T | dbSNP gnomAD v4 |
11 | g.72243893G>C | CA381746916 | PHOX2A | c.112C>G (p.Leu38Val) n.85+1687C>G | |
11 | g.72243893G= | CA1981904806 | PHOX2A | c.112C= (p.Leu38=) n.85+1687C= | |
11 | g.72243893G>T | CA381746917 | PHOX2A | c.112C>A (p.Leu38Met) n.85+1687C>A | dbSNP gnomAD v4 |
11 | g.72243897dup | CA2614940739 | PHOX2A | c.112dup (p.Leu38ProfsTer?) n.85+1687dup | gnomAD v4 |
11 | g.72243897del | CA2614940734 | PHOX2A | c.112del (p.Leu38CysfsTer?) n.85+1687del | gnomAD v4 |
11 | g.72243894G>A | CA475598309 | PHOX2A | c.111C>T (p.Pro37=) n.85+1686C>T | gnomAD v4 |
11 | g.72243894G>C | CA475598310 | PHOX2A | c.111C>G (p.Pro37=) n.85+1686C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243894G= | CA1981904807 | PHOX2A | c.111C= (p.Pro37=) n.85+1686C= | |
11 | g.72243894G>T | CA475598311 | PHOX2A | c.111C>A (p.Pro37=) n.85+1686C>A | gnomAD v4 |