| 1 | g.109264390_109264394del | CA1188035049 | CELSR2 | c.5289+25_5289+29del (n.5289+25_5289+29del)
| dbSNP gnomAD v4 |
| 1 | g.109264386_109264396del | CA2646916182 | CELSR2 | c.5289+21_5289+31del (n.5289+21_5289+31del)
| gnomAD v4 |
| 1 | g.109264390_109264391del | CA1005627694 | CELSR2 | c.5289+25_5289+26del (n.5289+25_5289+26del)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264391del | CA2646916241 | CELSR2 | c.5289+26del (n.5289+26del)
| gnomAD v4 |
| 1 | g.109264391T>A | CA1005627696 | CELSR2 | c.5289+26T>A (n.5289+26T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264391T>C | CA1005627697 | CELSR2 | c.5289+26T>C (n.5289+26T>C)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264391T>G | CA2646916238 | CELSR2 | c.5289+26T>G (n.5289+26T>G)
| gnomAD v4 |
| 1 | g.109264391T= | CA1188035053 | CELSR2 | c.5289+26T= (n.5289+26T=)
| |
| 1 | g.109264391_109264396del | CA2646916239 | CELSR2 | c.5289+26_5289+31del (n.5289+26_5289+31del)
| gnomAD v4 |
| 1 | g.109264392C>A | CA1005627700 | CELSR2 | c.5289+27C>A (n.5289+27C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264392C= | CA1143713992 | CELSR2 | c.5289+27C= (n.5289+27C=)
| |
| 1 | g.109264392C>T | CA987489 | CELSR2 | c.5289+27C>T (n.5289+27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264395_109264396insCCCCCCCCCACCCC | CA1005627699 | CELSR2 | c.5289+30_5289+31insCCCCCCCCCACCCC (n.5289+30_5289+31insCCCCCCCCCACCCC)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264393_109264395dup | CA2646916271 | CELSR2 | c.5289+28_5289+30dup (n.5289+28_5289+30dup)
| gnomAD v4 |
| 1 | g.109264392_109264393insAA | CA1005627702 | CELSR2 | c.5289+27_5289+28insAA (n.5289+27_5289+28insAA)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264393C= | CA1143485034 | CELSR2 | c.5289+28C= (n.5289+28C=)
| |
| 1 | g.109264393C>G | CA987490 | CELSR2 | c.5289+28C>G (n.5289+28C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264393C>T | CA1188035054 | CELSR2 | c.5289+28C>T (n.5289+28C>T)
| dbSNP |
| 1 | g.109264394C>A | CA2646916277 | CELSR2 | c.5289+29C>A (n.5289+29C>A)
| gnomAD v4 |
| 1 | g.109264394C= | CA1140615674 | CELSR2 | c.5289+29C= (n.5289+29C=)
| |
| 1 | g.109264394C>G | CA987491 | CELSR2 | c.5289+29C>G (n.5289+29C>G)
| dbSNP ExAC |
| 1 | g.109264394C>T | CA28632682 | CELSR2 | c.5289+29C>T (n.5289+29C>T)
| dbSNP gnomAD v4 |
| 1 | g.109264394_109264395insAC | CA2646916276 | CELSR2 | c.5289+29_5289+30insAC (n.5289+29_5289+30insAC)
| gnomAD v4 |
| 1 | g.109264394_109264395insAA | CA2646916279 | CELSR2 | c.5289+29_5289+30insAA (n.5289+29_5289+30insAA)
| gnomAD v4 |
| 1 | g.109264394_109264395insAACCCCCCCCCCAGCA | CA2646916280 | CELSR2 | c.5289+29_5289+30insAACCCCCCCCCCAGCA (n.5289+29_5289+30insAACCCCCCCCCCAGCA)
| gnomAD v4 |
| 1 | g.109264394_109264395insACCCCCACCCCCAGCA | CA2646916281 | CELSR2 | c.5289+29_5289+30insACCCCCACCCCCAGCA (n.5289+29_5289+30insACCCCCACCCCCAGCA)
| gnomAD v4 |
| 1 | g.109264394_109264395insACCCCCCCCACCAGCA | CA2646916282 | CELSR2 | c.5289+29_5289+30insACCCCCCCCACCAGCA (n.5289+29_5289+30insACCCCCCCCACCAGCA)
| gnomAD v4 |
| 1 | g.109264395C>A | CA2646916283 | CELSR2 | c.5289+30C>A (n.5289+30C>A)
| gnomAD v4 |
| 1 | g.109264395C= | CA1188035056 | CELSR2 | c.5289+30C= (n.5289+30C=)
| |
| 1 | g.109264395C>T | CA525625674 | CELSR2 | c.5289+30C>T (n.5289+30C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264395_109264396delinsCT | CA1188035055 | CELSR2 | c.5289+30_5289+31delinsCT (n.5289+30_5289+31delinsCT)
| |
| 1 | g.109264395_109264396insCCCACCAGCAG | CA2646916301 | CELSR2 | c.5289+30_5289+31insCCCACCAGCAG (n.5289+30_5289+31insCCCACCAGCAG)
| gnomAD v4 |
| 1 | g.109264395_109264396insCCCCCCAGCAG | CA2646916306 | CELSR2 | c.5289+30_5289+31insCCCCCCAGCAG (n.5289+30_5289+31insCCCCCCAGCAG)
| gnomAD v4 |
| 1 | g.109264395_109264396insCCCCCCAGCCG | CA2646916304 | CELSR2 | c.5289+30_5289+31insCCCCCCAGCCG (n.5289+30_5289+31insCCCCCCAGCCG)
| gnomAD v4 |
| 1 | g.109264395_109264396insCCCCACCAGCAG | CA2646916302 | CELSR2 | c.5289+30_5289+31insCCCCACCAGCAG (n.5289+30_5289+31insCCCCACCAGCAG)
| gnomAD v4 |
| 1 | g.109264395_109264396insCCCCCCCAGCAG | CA2646916298 | CELSR2 | c.5289+30_5289+31insCCCCCCCAGCAG (n.5289+30_5289+31insCCCCCCCAGCAG)
| gnomAD v4 |
| 1 | g.109264395_109264396insCCCCCCCCACCAGCAG | CA2646916299 | CELSR2 | c.5289+30_5289+31insCCCCCCCCACCAGCAG (n.5289+30_5289+31insCCCCCCCCACCAGCAG)
| gnomAD v4 |
| 1 | g.109264395_109264396insCCCCCCCCCCCCCCACCAGCAG | CA2646916290 | CELSR2 | c.5289+30_5289+31insCCCCCCCCCCCCCCACCAGCAG (n.5289+30_5289+31insCCCCCCCCCCCCCCACCAGCAG)
| gnomAD v4 |
| 1 | g.109264396del | CA525625676 | CELSR2 | c.5289+31del (n.5289+31del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264396T>A | CA1005627705 | CELSR2 | c.5289+31T>A (n.5289+31T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264396T>C | CA525625675 | CELSR2 | c.5289+31T>C (n.5289+31T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264396T>G | CA2646916296 | CELSR2 | c.5289+31T>G (n.5289+31T>G)
| gnomAD v4 |
| 1 | g.109264396T= | CA1188035057 | CELSR2 | c.5289+31T= (n.5289+31T=)
| |
| 1 | g.109264397C>A | CA2646916314 | CELSR2 | c.5289+32C>A (n.5289+32C>A)
| gnomAD v4 |
| 1 | g.109264397C= | CA1188035058 | CELSR2 | c.5289+32C= (n.5289+32C=)
| |
| 1 | g.109264397C>T | CA525625677 | CELSR2 | c.5289+32C>T (n.5289+32C>T)
| dbSNP gnomAD v2 |
| 1 | g.109264401_109264402insCCCCCCCC | CA1005627710 | CELSR2 | c.5289+36_5289+37insCCCCCCCC (n.5289+36_5289+37insCCCCCCCC)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264399_109264401dup | CA1005627711 | CELSR2 | c.5289+34_5289+36dup (n.5289+34_5289+36dup)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264397_109264401dup | CA1005627708 | CELSR2 | c.5289+32_5289+36dup (n.5289+32_5289+36dup)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264401del | CA2646916313 | CELSR2 | c.5289+36del (n.5289+36del)
| gnomAD v4 |
| 1 | g.109264397_109264398insAA | CA2646916317 | CELSR2 | c.5289+32_5289+33insAA (n.5289+32_5289+33insAA)
| gnomAD v4 |
| 1 | g.109264398C>T | CA2543515061 | CELSR2 | c.5289+33C>T (n.5289+33C>T)
| |
| 1 | g.109264399C= | CA1148468873 | CELSR2 | c.5289+34C= (n.5289+34C=)
| |
| 1 | g.109264399C>T | CA987492 | CELSR2 | c.5289+34C>T (n.5289+34C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264400C>A | CA1188035059 | CELSR2 | c.5289+35C>A (n.5289+35C>A)
| dbSNP gnomAD v4 |
| 1 | g.109264400C= | CA1188035060 | CELSR2 | c.5289+35C= (n.5289+35C=)
| |
| 1 | g.109264401C>A | CA885344420 | CELSR2 | c.5289+36C>A (n.5289+36C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264401C= | CA1188035062 | CELSR2 | c.5289+36C= (n.5289+36C=)
| |
| 1 | g.109264401C>G | CA2574019295 | CELSR2 | c.5289+36C>G (n.5289+36C>G)
| gnomAD v4 |
| 1 | g.109264401C>T | CA1005627714 | CELSR2 | c.5289+36C>T (n.5289+36C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264401_109264402delinsCA | CA1188035061 | CELSR2 | c.5289+36_5289+37delinsCA (n.5289+36_5289+37delinsCA)
| |
| 1 | g.109264402del | CA525625678 | CELSR2 | c.5289+37del (n.5289+37del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264402A= | CA1188035063 | CELSR2 | c.5289+37A= (n.5289+37A=)
| |
| 1 | g.109264402A>C | CA525625679 | CELSR2 | c.5289+37A>C (n.5289+37A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264402A>G | CA987493 | CELSR2 | c.5289+37A>G (n.5289+37A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264402_109264412del | CA1005627716 | CELSR2 | c.5289+37_5290-42del (n.5289+37_5290-42del)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264403C= | CA1140615675 | CELSR2 | c.5289+38C= (n.5289+38C=)
| |
| 1 | g.109264403C>G | CA2646916328 | CELSR2 | c.5289+38C>G (n.5289+38C>G)
| gnomAD v4 |
| 1 | g.109264403C>T | CA28632689 | CELSR2 | c.5289+38C>T (n.5289+38C>T)
| dbSNP gnomAD v4 |
| 1 | g.109264404C>A | CA2646916330 | CELSR2 | c.5289+39C>A (n.5289+39C>A)
| gnomAD v4 |
| 1 | g.109264404C= | CA1140616605 | CELSR2 | c.5289+39C= (n.5289+39C=)
| |
| 1 | g.109264404C>G | CA2646916331 | CELSR2 | c.5289+39C>G (n.5289+39C>G)
| gnomAD v4 |
| 1 | g.109264404C>T | CA28632694 | CELSR2 | c.5289+39C>T (n.5289+39C>T)
| dbSNP gnomAD v4 |
| 1 | g.109264404_109264412delinsCACCTGCAG | CA1188035064 | CELSR2 | c.5289+39_5290-42delinsCACCTGCAG (n.5289+39_5290-42delinsCACCTGCAG)
| |
| 1 | g.109264405A= | CA1188035065 | CELSR2 | c.5289+40A= (n.5289+40A=)
| |
| 1 | g.109264405A>C | CA525625681 | CELSR2 | c.5289+40A>C (n.5289+40A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264405A>G | CA2646916333 | CELSR2 | c.5289+40A>G (n.5289+40A>G)
| gnomAD v4 |
| 1 | g.109264405_109264409del | CA2529341509 | CELSR2 | c.5289+40_5290-45del (n.5289+40_5290-45del)
| |
| 1 | g.109264405_109264412del | CA525625680 | CELSR2 | c.5289+40_5290-42del (n.5289+40_5290-42del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264406C= | CA1188035066 | CELSR2 | c.5289+41C= (n.5289+41C=)
| |
| 1 | g.109264406C>T | CA987494 | CELSR2 | c.5289+41C>T (n.5289+41C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264406_109264408del | CA2646916335 | CELSR2 | c.5289+41_5289+43del (n.5289+41_5289+43del)
| gnomAD v4 |
| 1 | g.109264407C= | CA1148278257 | CELSR2 | c.5289+42C= (n.5289+42C=)
| |
| 1 | g.109264407C>T | CA987495 | CELSR2 | c.5289+42C>T (n.5289+42C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264407_109264409delinsCTG | CA1188035067 | CELSR2 | c.5289+42_5290-45delinsCTG (n.5289+42_5290-45delinsCTG)
| |
| 1 | g.109264408T>A | CA1005627721 | CELSR2 | c.5289+43T>A (n.5289+43T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264408T>C | CA1005627719 | CELSR2 | c.5289+43T>C (n.5289+43T>C)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264408_109264409del | CA525625682 | CELSR2 | c.5289+43_5290-45del (n.5289+43_5290-45del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264408_109264412del | CA1005627724 | CELSR2 | c.5289+43_5290-42del (n.5289+43_5290-42del)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264409G>A | CA1188035069 | CELSR2 | c.5290-45G>A (n.5290-45G>A)
| dbSNP gnomAD v4 |
| 1 | g.109264409G>C | CA2744995078 | CELSR2 | c.5290-45G>C (n.5290-45G>C)
| |
| 1 | g.109264409G= | CA1188035068 | CELSR2 | c.5290-45G= (n.5290-45G=)
| |
| 1 | g.109264410C>T | CA2646916346 | CELSR2 | c.5290-44C>T (n.5290-44C>T)
| gnomAD v4 |
| 1 | g.109264410_109264412delinsCAG | CA1188035070 | CELSR2 | c.5290-44_5290-42delinsCAG (n.5290-44_5290-42delinsCAG)
| |
| 1 | g.109264411A>C | CA2646916348 | CELSR2 | c.5290-43A>C (n.5290-43A>C)
| gnomAD v4 |
| 1 | g.109264411_109264412del | CA525625683 | CELSR2 | c.5290-43_5290-42del (n.5290-43_5290-42del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264412G>C | CA2646916350 | CELSR2 | c.5290-42G>C (n.5290-42G>C)
| gnomAD v4 |
| 1 | g.109264413C>A | CA2646916351 | CELSR2 | c.5290-41C>A (n.5290-41C>A)
| gnomAD v4 |
| 1 | g.109264414C>A | CA2646916355 | CELSR2 | c.5290-40C>A (n.5290-40C>A)
| gnomAD v4 |
| 1 | g.109264414C= | CA1188035071 | CELSR2 | c.5290-40C= (n.5290-40C=)
| |
| 1 | g.109264414C>G | CA2646916353 | CELSR2 | c.5290-40C>G (n.5290-40C>G)
| gnomAD v4 |
| 1 | g.109264414C>T | CA987497 | CELSR2 | c.5290-40C>T (n.5290-40C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264414_109264417delinsCCCG | CA1188035072 | CELSR2 | c.5290-40_5290-37delinsCCCG (n.5290-40_5290-37delinsCCCG)
| |
| 1 | g.109264416_109264418del | CA987496 | CELSR2 | c.5290-38_5290-36del (n.5290-38_5290-36del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264416C= | CA1188035073 | CELSR2 | c.5290-38C= (n.5290-38C=)
| |
| 1 | g.109264416C>G | CA2646916357 | CELSR2 | c.5290-38C>G (n.5290-38C>G)
| gnomAD v4 |
| 1 | g.109264416C>T | CA987498 | CELSR2 | c.5290-38C>T (n.5290-38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264417G>A | CA987499 | CELSR2 | c.5290-37G>A (n.5290-37G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264417G>C | CA1005627727 | CELSR2 | c.5290-37G>C (n.5290-37G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264417G= | CA1149061763 | CELSR2 | c.5290-37G= (n.5290-37G=)
| |
| 1 | g.109264417G>T | CA2744995079 | CELSR2 | c.5290-37G>T (n.5290-37G>T)
| |
| 1 | g.109264418C>T | CA2646916360 | CELSR2 | c.5290-36C>T (n.5290-36C>T)
| gnomAD v4 |
| 1 | g.109264419T>A | CA2646916361 | CELSR2 | c.5290-35T>A (n.5290-35T>A)
| gnomAD v4 |
| 1 | g.109264419T>C | CA1005627729 | CELSR2 | c.5290-35T>C (n.5290-35T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264419T= | CA1188035074 | CELSR2 | c.5290-35T= (n.5290-35T=)
| |
| 1 | g.109264420C>A | CA987500 | CELSR2 | c.5290-34C>A (n.5290-34C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264420C= | CA1143419807 | CELSR2 | c.5290-34C= (n.5290-34C=)
| |
| 1 | g.109264420C>G | CA2646916364 | CELSR2 | c.5290-34C>G (n.5290-34C>G)
| gnomAD v4 |
| 1 | g.109264421C= | CA1188035075 | CELSR2 | c.5290-33C= (n.5290-33C=)
| |
| 1 | g.109264421C>T | CA987501 | CELSR2 | c.5290-33C>T (n.5290-33C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264422A= | CA1188035076 | CELSR2 | c.5290-32A= (n.5290-32A=)
| |
| 1 | g.109264422A>C | CA1005627731 | CELSR2 | c.5290-32A>C (n.5290-32A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264422A>T | CA2574019305 | CELSR2 | c.5290-32A>T (n.5290-32A>T)
| |
| 1 | g.109264423C>T | CA2646916371 | CELSR2 | c.5290-31C>T (n.5290-31C>T)
| gnomAD v4 |
| 1 | g.109264424T>A | CA2603162927 | CELSR2 | c.5290-30T>A (n.5290-30T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264426A= | CA1188035077 | CELSR2 | c.5290-28A= (n.5290-28A=)
| |
| 1 | g.109264426A>G | CA28632722 | CELSR2 | c.5290-28A>G (n.5290-28A>G)
| dbSNP |
| 1 | g.109264427G>C | CA2574019310 | CELSR2 | c.5290-27G>C (n.5290-27G>C)
| |
| 1 | g.109264427G>T | CA2574019312 | CELSR2 | c.5290-27G>T (n.5290-27G>T)
| |
| 1 | g.109264428G= | CA1188035078 | CELSR2 | c.5290-26G= (n.5290-26G=)
| |
| 1 | g.109264428G>T | CA525625684 | CELSR2 | c.5290-26G>T (n.5290-26G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264429G>A | CA525625685 | CELSR2 | c.5290-25G>A (n.5290-25G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264429G= | CA1188035079 | CELSR2 | c.5290-25G= (n.5290-25G=)
| |
| 1 | g.109264430C>A | CA885344430 | CELSR2 | c.5290-24C>A (n.5290-24C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264430C= | CA1188035080 | CELSR2 | c.5290-24C= (n.5290-24C=)
| |
| 1 | g.109264430C>T | CA2646916378 | CELSR2 | c.5290-24C>T (n.5290-24C>T)
| gnomAD v4 |
| 1 | g.109264432A= | CA1143458579 | CELSR2 | c.5290-22A= (n.5290-22A=)
| |
| 1 | g.109264432A>G | CA987502 | CELSR2 | c.5290-22A>G (n.5290-22A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264434A= | CA1188035081 | CELSR2 | c.5290-20A= (n.5290-20A=)
| |
| 1 | g.109264434A>G | CA987504 | CELSR2 | c.5290-20A>G (n.5290-20A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264434_109264435delinsAC | CA1188035082 | CELSR2 | c.5290-20_5290-19delinsAC (n.5290-20_5290-19delinsAC)
| |
| 1 | g.109264435del | CA987503 | CELSR2 | c.5290-19del (n.5290-19del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264435C= | CA1148565919 | CELSR2 | c.5290-19C= (n.5290-19C=)
| |
| 1 | g.109264435C>G | CA525625686 | CELSR2 | c.5290-19C>G (n.5290-19C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264436T>A | CA1188035084 | CELSR2 | c.5290-18T>A (n.5290-18T>A)
| dbSNP |
| 1 | g.109264436T= | CA1188035083 | CELSR2 | c.5290-18T= (n.5290-18T=)
| |
| 1 | g.109264437G>A | CA987505 | CELSR2 | c.5290-17G>A (n.5290-17G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264437G= | CA1188035085 | CELSR2 | c.5290-17G= (n.5290-17G=)
| |
| 1 | g.109264438C>A | CA987506 | CELSR2 | c.5290-16C>A (n.5290-16C>A)
| dbSNP ExAC gnomAD v2 |
| 1 | g.109264438C= | CA1188035086 | CELSR2 | c.5290-16C= (n.5290-16C=)
| |
| 1 | g.109264438C>T | CA2646916384 | CELSR2 | c.5290-16C>T (n.5290-16C>T)
| gnomAD v4 |
| 1 | g.109264440_109264442dup | CA2646916383 | CELSR2 | c.5290-14_5290-12dup (n.5290-14_5290-12dup)
| gnomAD v4 |
| 1 | g.109264439T>C | CA2646916385 | CELSR2 | c.5290-15T>C (n.5290-15T>C)
| gnomAD v4 |
| 1 | g.109264440C>G | CA2646916386 | CELSR2 | c.5290-14C>G (n.5290-14C>G)
| gnomAD v4 |
| 1 | g.109264440C>T | CA2646916387 | CELSR2 | c.5290-14C>T (n.5290-14C>T)
| gnomAD v4 |
| 1 | g.109264441C= | CA1188035087 | CELSR2 | c.5290-13C= (n.5290-13C=)
| |
| 1 | g.109264441C>T | CA987507 | CELSR2 | c.5290-13C>T (n.5290-13C>T)
| dbSNP ExAC gnomAD v2 |
| 1 | g.109264442T>A | CA2696676964 | CELSR2 | c.5290-12T>A (n.5290-12T>A)
| dbSNP |
| 1 | g.109264443G>C | CA2513108235 | CELSR2 | c.5290-11G>C (n.5290-11G>C)
| gnomAD v4 |
| 1 | g.109264446C= | CA1188035088 | CELSR2 | c.5290-8C= (n.5290-8C=)
| |
| 1 | g.109264446C>T | CA987508 | CELSR2 | c.5290-8C>T (n.5290-8C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264448T>A | CA2696676969 | CELSR2 | c.5290-6T>A (n.5290-6T>A)
| dbSNP |
| 1 | g.109264449_109264456del | CA2646916389 | CELSR2 | c.5290-5_5292del
| gnomAD v4 |
| 1 | g.109264449C= | CA1143663655 | CELSR2 | c.5290-5C= (n.5290-5C=)
| |
| 1 | g.109264449C>G | CA987510 | CELSR2 | c.5290-5C>G (n.5290-5C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264449C>T | CA987509 | CELSR2 | c.5290-5C>T (n.5290-5C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264452A= | CA1188035089 | CELSR2 | c.5290-2A= (n.5290-2A=)
| |
| 1 | g.109264452A>C | CA341501931 | CELSR2 | c.5290-2A>C (n.5290-2A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264452A>G | CA341501930 | CELSR2 | c.5290-2A>G (n.5290-2A>G)
| |
| 1 | g.109264452A>T | CA341501929 | CELSR2 | c.5290-2A>T (n.5290-2A>T)
| |
| 1 | g.109264453G>A | CA341501932 | CELSR2 | c.5290-1G>A (n.5290-1G>A)
| |
| 1 | g.109264453G>C | CA341501933 | CELSR2 | c.5290-1G>C (n.5290-1G>C)
| |
| 1 | g.109264453G>T | CA341501934 | CELSR2 | c.5290-1G>T (n.5290-1G>T)
| |
| 1 | g.109264455del | CA2646916395 | CELSR2 | c.5291del
| gnomAD v4 |
| 1 | g.109264454G>A | CA341501935 | CELSR2 | c.5290G>A (p.Gly1764Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264454G>C | CA341501936 | CELSR2 | c.5290G>C (p.Gly1764Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264454G= | CA1188035090 | CELSR2 | c.5290G= (p.Gly1764=)
| |
| 1 | g.109264454G>T | CA341501937 | CELSR2 | c.5290G>T (p.Gly1764Cys)
| |
| 1 | g.109264455G>A | CA28632789 | CELSR2 | c.5291G>A (p.Gly1764Asp)
| dbSNP gnomAD v4 |
| 1 | g.109264455G>C | CA341501938 | CELSR2 | c.5291G>C (p.Gly1764Ala)
| |
| 1 | g.109264455G= | CA1188035091 | CELSR2 | c.5291G= (p.Gly1764=)
| |
| 1 | g.109264455G>T | CA341501939 | CELSR2 | c.5291G>T (p.Gly1764Val)
| |
| 1 | g.109264456T>A | CA419678313 | CELSR2 | c.5292T>A (p.Gly1764=)
| dbSNP |
| 1 | g.109264456T>C | CA419678319 | CELSR2 | c.5292T>C (p.Gly1764=)
| |
| 1 | g.109264456T>G | CA419678315 | CELSR2 | c.5292T>G (p.Gly1764=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264456T= | CA1188035092 | CELSR2 | c.5292T= (p.Gly1764=)
| |
| 1 | g.109264457G>A | CA341501940 | CELSR2 | c.5293G>A (p.Val1765Met)
| |
| 1 | g.109264457G>C | CA341501941 | CELSR2 | c.5293G>C (p.Val1765Leu)
| |
| 1 | g.109264457G>T | CA341501942 | CELSR2 | c.5293G>T (p.Val1765Leu)
| |
| 1 | g.109264458T>A | CA341501944 | CELSR2 | c.5294T>A (p.Val1765Glu)
| |
| 1 | g.109264458T>C | CA341501945 | CELSR2 | c.5294T>C (p.Val1765Ala)
| |
| 1 | g.109264458T>G | CA341501943 | CELSR2 | c.5294T>G (p.Val1765Gly)
| gnomAD v4 |
| 1 | g.109264458_109264459insA | CA2744995086 | CELSR2 | c.5294_5295insA (p.Arg1766AlafsTer10)
| |
| 1 | g.109264459G>A | CA987511 | CELSR2 | c.5295G>A (p.Val1765=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264459G>C | CA419678327 | CELSR2 | c.5295G>C (p.Val1765=)
| |
| 1 | g.109264459G= | CA1188035093 | CELSR2 | c.5295G= (p.Val1765=)
| |
| 1 | g.109264459G>T | CA419678326 | CELSR2 | c.5295G>T (p.Val1765=)
| gnomAD v4 |
| 1 | g.109264459_109264460insATCT | CA2744995087 | CELSR2 | c.5295_5296insATCT (p.Arg1766IlefsTer11)
| |
| 1 | g.109264460C>A | CA419678328 | CELSR2 | c.5296C>A (p.Arg1766=)
| |
| 1 | g.109264460C= | CA1188035094 | CELSR2 | c.5296C= (p.Arg1766=)
| |
| 1 | g.109264460C>G | CA341501946 | CELSR2 | c.5296C>G (p.Arg1766Gly)
| |
| 1 | g.109264460C>T | CA987512 | CELSR2 | c.5296C>T (p.Arg1766Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264461G>A | CA987513 | CELSR2 | c.5297G>A (p.Arg1766Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264461G>C | CA341501947 | CELSR2 | c.5297G>C (p.Arg1766Pro)
| |
| 1 | g.109264461G= | CA1188035095 | CELSR2 | c.5297G= (p.Arg1766=)
| |
| 1 | g.109264461G>T | CA341501948 | CELSR2 | c.5297G>T (p.Arg1766Leu)
| gnomAD v4 |
| 1 | g.109264462G>A | CA419678339 | CELSR2 | c.5298G>A (p.Arg1766=)
| |
| 1 | g.109264462G>C | CA419678342 | CELSR2 | c.5298G>C (p.Arg1766=)
| |
| 1 | g.109264462G= | CA1188035096 | CELSR2 | c.5298G= (p.Arg1766=)
| |
| 1 | g.109264462G>T | CA419678341 | CELSR2 | c.5298G>T (p.Arg1766=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264462_109264463insTG | CA2744995090 | CELSR2 | c.5298_5299insTG (p.Val1767TrpfsTer2)
| |
| 1 | g.109264463G>A | CA341501949 | CELSR2 | c.5299G>A (p.Val1767Met)
| |
| 1 | g.109264463G>C | CA341501950 | CELSR2 | c.5299G>C (p.Val1767Leu)
| |
| 1 | g.109264463G= | CA1188035097 | CELSR2 | c.5299G= (p.Val1767=)
| |
| 1 | g.109264463G>T | CA987514 | CELSR2 | c.5299G>T (p.Val1767Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264464T>A | CA341501951 | CELSR2 | c.5300T>A (p.Val1767Glu)
| |
| 1 | g.109264464T>C | CA341501952 | CELSR2 | c.5300T>C (p.Val1767Ala)
| |
| 1 | g.109264464T>G | CA341501953 | CELSR2 | c.5300T>G (p.Val1767Gly)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264465G>A | CA987515 | CELSR2 | c.5301G>A (p.Val1767=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264465G>C | CA419678350 | CELSR2 | c.5301G>C (p.Val1767=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264465G= | CA1188035098 | CELSR2 | c.5301G= (p.Val1767=)
| |
| 1 | g.109264465G>T | CA419678352 | CELSR2 | c.5301G>T (p.Val1767=)
| |
| 1 | g.109264466A>C | CA341501954 | CELSR2 | c.5302A>C (p.Ser1768Arg)
| |
| 1 | g.109264466A>G | CA341501956 | CELSR2 | c.5302A>G (p.Ser1768Gly)
| |
| 1 | g.109264466A>T | CA341501955 | CELSR2 | c.5302A>T (p.Ser1768Cys)
| |
| 1 | g.109264467G>A | CA341501957 | CELSR2 | c.5303G>A (p.Ser1768Asn)
| |
| 1 | g.109264467G>C | CA341501958 | CELSR2 | c.5303G>C (p.Ser1768Thr)
| |
| 1 | g.109264467G= | CA1188035099 | CELSR2 | c.5303G= (p.Ser1768=)
| |
| 1 | g.109264467G>T | CA341501959 | CELSR2 | c.5303G>T (p.Ser1768Ile)
| dbSNP |
| 1 | g.109264468C>A | CA341501960 | CELSR2 | c.5304C>A (p.Ser1768Arg)
| |
| 1 | g.109264468C= | CA1188035100 | CELSR2 | c.5304C= (p.Ser1768=)
| |
| 1 | g.109264468C>G | CA341501961 | CELSR2 | c.5304C>G (p.Ser1768Arg)
| |
| 1 | g.109264468C>T | CA987516 | CELSR2 | c.5304C>T (p.Ser1768=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264469G>A | CA987517 | CELSR2 | c.5305G>A (p.Asp1769Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264469G>C | CA341501962 | CELSR2 | c.5305G>C (p.Asp1769His)
| |
| 1 | g.109264469G= | CA1143892874 | CELSR2 | c.5305G= (p.Asp1769=)
| |
| 1 | g.109264469G>T | CA341501963 | CELSR2 | c.5305G>T (p.Asp1769Tyr)
| ClinVar dbSNP |
| 1 | g.109264470A>C | CA341501964 | CELSR2 | c.5306A>C (p.Asp1769Ala)
| |
| 1 | g.109264470A>G | CA341501965 | CELSR2 | c.5306A>G (p.Asp1769Gly)
| gnomAD v4 |
| 1 | g.109264470A>T | CA341501966 | CELSR2 | c.5306A>T (p.Asp1769Val)
| |
| 1 | g.109264471T>A | CA341501968 | CELSR2 | c.5307T>A (p.Asp1769Glu)
| |
| 1 | g.109264471T>C | CA419678367 | CELSR2 | c.5307T>C (p.Asp1769=)
| |
| 1 | g.109264471T>G | CA341501967 | CELSR2 | c.5307T>G (p.Asp1769Glu)
| |
| 1 | g.109264472A= | CA1188035101 | CELSR2 | c.5308A= (p.Thr1770=)
| |
| 1 | g.109264472A>C | CA341501969 | CELSR2 | c.5308A>C (p.Thr1770Pro)
| |
| 1 | g.109264472A>G | CA341501971 | CELSR2 | c.5308A>G (p.Thr1770Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264472A>T | CA341501970 | CELSR2 | c.5308A>T (p.Thr1770Ser)
| |
| 1 | g.109264473C>A | CA341501972 | CELSR2 | c.5309C>A (p.Thr1770Lys)
| |
| 1 | g.109264473C= | CA1188035102 | CELSR2 | c.5309C= (p.Thr1770=)
| |
| 1 | g.109264473C>G | CA341501973 | CELSR2 | c.5309C>G (p.Thr1770Arg)
| gnomAD v4 |
| 1 | g.109264473C>T | CA987518 | CELSR2 | c.5309C>T (p.Thr1770Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264474G>A | CA987519 | CELSR2 | c.5310G>A (p.Thr1770=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264474G>C | CA419678376 | CELSR2 | c.5310G>C (p.Thr1770=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264474G= | CA1142293832 | CELSR2 | c.5310G= (p.Thr1770=)
| |
| 1 | g.109264474G>T | CA419678378 | CELSR2 | c.5310G>T (p.Thr1770=)
| |
| 1 | g.109264475C>A | CA341501974 | CELSR2 | c.5311C>A (p.Pro1771Thr)
| dbSNP gnomAD v4 |
| 1 | g.109264475C= | CA1188035103 | CELSR2 | c.5311C= (p.Pro1771=)
| |
| 1 | g.109264475C>G | CA341501975 | CELSR2 | c.5311C>G (p.Pro1771Ala)
| gnomAD v4 |
| 1 | g.109264475C>T | CA341501976 | CELSR2 | c.5311C>T (p.Pro1771Ser)
| |
| 1 | g.109264476C>A | CA341501977 | CELSR2 | c.5312C>A (p.Pro1771Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264476C= | CA1188035104 | CELSR2 | c.5312C= (p.Pro1771=)
| |
| 1 | g.109264476C>G | CA341501978 | CELSR2 | c.5312C>G (p.Pro1771Arg)
| |
| 1 | g.109264476C>T | CA987520 | CELSR2 | c.5312C>T (p.Pro1771Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264477G>A | CA987521 | CELSR2 | c.5313G>A (p.Pro1771=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264477G>C | CA419678392 | CELSR2 | c.5313G>C (p.Pro1771=)
| dbSNP gnomAD v4 |
| 1 | g.109264477G= | CA1140102179 | CELSR2 | c.5313G= (p.Pro1771=)
| |
| 1 | g.109264477G>T | CA419678391 | CELSR2 | c.5313G>T (p.Pro1771=)
| |
| 1 | g.109264478G>A | CA341501981 | CELSR2 | c.5314G>A (p.Glu1772Lys)
| dbSNP gnomAD v4 |
| 1 | g.109264478G>C | CA341501979 | CELSR2 | c.5314G>C (p.Glu1772Gln)
| |
| 1 | g.109264478G= | CA1188035105 | CELSR2 | c.5314G= (p.Glu1772=)
| |
| 1 | g.109264478G>T | CA341501980 | CELSR2 | c.5314G>T (p.Glu1772Ter)
| |
| 1 | g.109264479A>C | CA341501982 | CELSR2 | c.5315A>C (p.Glu1772Ala)
| |
| 1 | g.109264479A>G | CA341501983 | CELSR2 | c.5315A>G (p.Glu1772Gly)
| |
| 1 | g.109264479A>T | CA341501984 | CELSR2 | c.5315A>T (p.Glu1772Val)
| COSMIC |
| 1 | g.109264480G>A | CA419678404 | CELSR2 | c.5316G>A (p.Glu1772=)
| |
| 1 | g.109264480G>C | CA341501985 | CELSR2 | c.5316G>C (p.Glu1772Asp)
| gnomAD v4 |
| 1 | g.109264480G>T | CA341501986 | CELSR2 | c.5316G>T (p.Glu1772Asp)
| |
| 1 | g.109264480_109264485del | CA2744995104 | CELSR2 | c.5316_5321del (p.Glu1772_Val1774delinsAsp)
| |
| 1 | g.109264481G>A | CA341501987 | CELSR2 | c.5317G>A (p.Gly1773Arg)
| dbSNP gnomAD v4 |
| 1 | g.109264481G>C | CA341501988 | CELSR2 | c.5317G>C (p.Gly1773Arg)
| |
| 1 | g.109264481G= | CA1188035106 | CELSR2 | c.5317G= (p.Gly1773=)
| |
| 1 | g.109264481G>T | CA341501989 | CELSR2 | c.5317G>T (p.Gly1773Trp)
| |
| 1 | g.109264482G>A | CA341501990 | CELSR2 | c.5318G>A (p.Gly1773Glu)
| |
| 1 | g.109264482G>C | CA987522 | CELSR2 | c.5318G>C (p.Gly1773Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264482G= | CA1144516544 | CELSR2 | c.5318G= (p.Gly1773=)
| |
| 1 | g.109264482G>T | CA341501991 | CELSR2 | c.5318G>T (p.Gly1773Val)
| |
| 1 | g.109264483G>A | CA419678425 | CELSR2 | c.5319G>A (p.Gly1773=)
| gnomAD v4 |
| 1 | g.109264483G>C | CA419678426 | CELSR2 | c.5319G>C (p.Gly1773=)
| |
| 1 | g.109264483G= | CA1188035107 | CELSR2 | c.5319G= (p.Gly1773=)
| |
| 1 | g.109264483G>T | CA419678427 | CELSR2 | c.5319G>T (p.Gly1773=)
| dbSNP gnomAD v2 |
| 1 | g.109264484G>A | CA341501993 | CELSR2 | c.5320G>A (p.Val1774Ile)
| gnomAD v4 |
| 1 | g.109264484G>C | CA341501994 | CELSR2 | c.5320G>C (p.Val1774Leu)
| |
| 1 | g.109264484G= | CA1188035108 | CELSR2 | c.5320G= (p.Val1774=)
| |
| 1 | g.109264484G>T | CA341501992 | CELSR2 | c.5320G>T (p.Val1774Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264485T>A | CA341501995 | CELSR2 | c.5321T>A (p.Val1774Asp)
| |
| 1 | g.109264485T>C | CA341501996 | CELSR2 | c.5321T>C (p.Val1774Ala)
| |
| 1 | g.109264485T>G | CA341501997 | CELSR2 | c.5321T>G (p.Val1774Gly)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264486T>A | CA419678430 | CELSR2 | c.5322T>A (p.Val1774=)
| gnomAD v4 |
| 1 | g.109264486T>C | CA419678434 | CELSR2 | c.5322T>C (p.Val1774=)
| |
| 1 | g.109264486T>G | CA419678435 | CELSR2 | c.5322T>G (p.Val1774=)
| |
| 1 | g.109264486_109264487insCATTAAA | CA2744995105 | CELSR2 | c.5322_5323insCATTAAA (p.Asn1775HisfsTer2)
| |
| 1 | g.109264487A= | CA1188035109 | CELSR2 | c.5323A= (p.Asn1775=)
| |
| 1 | g.109264487A>C | CA341501998 | CELSR2 | c.5323A>C (p.Asn1775His)
| |
| 1 | g.109264487A>G | CA987523 | CELSR2 | c.5323A>G (p.Asn1775Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264487A>T | CA341501999 | CELSR2 | c.5323A>T (p.Asn1775Tyr)
| |
| 1 | g.109264488A= | CA1188035110 | CELSR2 | c.5324A= (p.Asn1775=)
| |
| 1 | g.109264488A>C | CA341502002 | CELSR2 | c.5324A>C (p.Asn1775Thr)
| dbSNP |
| 1 | g.109264488A>G | CA341502000 | CELSR2 | c.5324A>G (p.Asn1775Ser)
| gnomAD v4 |
| 1 | g.109264488A>T | CA341502001 | CELSR2 | c.5324A>T (p.Asn1775Ile)
| |
| 1 | g.109264489C>A | CA341502003 | CELSR2 | c.5325C>A (p.Asn1775Lys)
| |
| 1 | g.109264489C>G | CA341502004 | CELSR2 | c.5325C>G (p.Asn1775Lys)
| |
| 1 | g.109264489C>T | CA419678452 | CELSR2 | c.5325C>T (p.Asn1775=)
| gnomAD v4 |
| 1 | g.109264490A>C | CA341502005 | CELSR2 | c.5326A>C (p.Ser1776Arg)
| |
| 1 | g.109264490A>G | CA341502006 | CELSR2 | c.5326A>G (p.Ser1776Gly)
| gnomAD v4 |
| 1 | g.109264490A>T | CA341502007 | CELSR2 | c.5326A>T (p.Ser1776Cys)
| |
| 1 | g.109264491G>A | CA341502008 | CELSR2 | c.5327G>A (p.Ser1776Asn)
| |
| 1 | g.109264491G>C | CA341502010 | CELSR2 | c.5327G>C (p.Ser1776Thr)
| |
| 1 | g.109264491G>T | CA341502009 | CELSR2 | c.5327G>T (p.Ser1776Ile)
| |
