Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.32656943dup | CA2654268469 | SYNJ1 | c.2697-37dup (n.2697-37dup) c.2565-37dup (n.2565-37dup) c.2580-37dup (n.2580-37dup) n.367-37dup c.2682-37dup (n.2682-37dup) | gnomAD v4 |
21 | g.32656948G>A | CA2654268470 | SYNJ1 | c.2697-46C>T (n.2697-46C>T) c.2565-46C>T (n.2565-46C>T) c.2580-46C>T (n.2580-46C>T) n.367-46C>T c.2682-46C>T (n.2682-46C>T) | gnomAD v4 |
21 | g.32656950G>A | CA10003631 | SYNJ1 | c.2697-48C>T (n.2697-48C>T) c.2565-48C>T (n.2565-48C>T) c.2580-48C>T (n.2580-48C>T) n.367-48C>T c.2682-48C>T (n.2682-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32656950G= | CA2386325173 | SYNJ1 | c.2697-48C= (n.2697-48C=) c.2565-48C= (n.2565-48C=) c.2580-48C= (n.2580-48C=) n.367-48C= c.2682-48C= (n.2682-48C=) | |
21 | g.32656950G>T | CA10003630 | SYNJ1 | c.2697-48C>A (n.2697-48C>A) c.2565-48C>A (n.2565-48C>A) c.2580-48C>A (n.2580-48C>A) n.367-48C>A c.2682-48C>A (n.2682-48C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32656950_32656958delinsGTGTATTTC | CA2386325172 | SYNJ1 | c.2696+45_2697-48delinsGAAATACAC (n.2696+45_2697-48delinsGAAATACAC) c.2564+45_2565-48delinsGAAATACAC (n.2564+45_2565-48delinsGAAATACAC) c.2579+45_2580-48delinsGAAATACAC (n.2579+45_2580-48delinsGAAATACAC) n.366+45_367-48delinsGAAATACAC c.2681+45_2682-48delinsGAAATACAC (n.2681+45_2682-48delinsGAAATACAC) | |
21 | g.32656951T>C | CA2577476173 | SYNJ1 | c.2697-49A>G (n.2697-49A>G) c.2565-49A>G (n.2565-49A>G) c.2580-49A>G (n.2580-49A>G) n.367-49A>G c.2682-49A>G (n.2682-49A>G) | |
21 | g.32656951_32656958del | CA10003632 | SYNJ1 | c.2696+45_2697-49del (n.2696+45_2697-49del) c.2564+45_2565-49del (n.2564+45_2565-49del) c.2579+45_2580-49del (n.2579+45_2580-49del) n.366+45_367-49del c.2681+45_2682-49del (n.2681+45_2682-49del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32656952G>A | CA10003633 | SYNJ1 | c.2697-50C>T (n.2697-50C>T) c.2565-50C>T (n.2565-50C>T) c.2580-50C>T (n.2580-50C>T) n.367-50C>T c.2682-50C>T (n.2682-50C>T) | dbSNP ExAC gnomAD v2 |
21 | g.32656952G= | CA2386325174 | SYNJ1 | c.2697-50C= (n.2697-50C=) c.2565-50C= (n.2565-50C=) c.2580-50C= (n.2580-50C=) n.367-50C= c.2682-50C= (n.2682-50C=) | |
21 | g.32656954A= | CA2386325175 | SYNJ1 | c.2696+49T= (n.2696+49T=) c.2564+49T= (n.2564+49T=) c.2579+49T= (n.2579+49T=) n.366+49T= c.2681+49T= (n.2681+49T=) | |
21 | g.32656954A>C | CA638052301 | SYNJ1 | c.2696+49T>G (n.2696+49T>G) c.2564+49T>G (n.2564+49T>G) c.2579+49T>G (n.2579+49T>G) n.366+49T>G c.2681+49T>G (n.2681+49T>G) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.32656954A>G | CA2577476174 | SYNJ1 | c.2696+49T>C (n.2696+49T>C) c.2564+49T>C (n.2564+49T>C) c.2579+49T>C (n.2579+49T>C) n.366+49T>C c.2681+49T>C (n.2681+49T>C) | |
21 | g.32656955T>A | CA638052302 | SYNJ1 | c.2696+48A>T (n.2696+48A>T) c.2564+48A>T (n.2564+48A>T) c.2579+48A>T (n.2579+48A>T) n.366+48A>T c.2681+48A>T (n.2681+48A>T) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.32656955T= | CA2386325176 | SYNJ1 | c.2696+48A= (n.2696+48A=) c.2564+48A= (n.2564+48A=) c.2579+48A= (n.2579+48A=) n.366+48A= c.2681+48A= (n.2681+48A=) | |
21 | g.32656957T>C | CA638052303 | SYNJ1 | c.2696+46A>G (n.2696+46A>G) c.2564+46A>G (n.2564+46A>G) c.2579+46A>G (n.2579+46A>G) n.366+46A>G c.2681+46A>G (n.2681+46A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32656957T= | CA2386325177 | SYNJ1 | c.2696+46A= (n.2696+46A=) c.2564+46A= (n.2564+46A=) c.2579+46A= (n.2579+46A=) n.366+46A= c.2681+46A= (n.2681+46A=) | |
21 | g.32656959A= | CA2386325178 | SYNJ1 | c.2696+44T= (n.2696+44T=) c.2564+44T= (n.2564+44T=) c.2579+44T= (n.2579+44T=) n.366+44T= c.2681+44T= (n.2681+44T=) | |
21 | g.32656959A>T | CA1021882346 | SYNJ1 | c.2696+44T>A (n.2696+44T>A) c.2564+44T>A (n.2564+44T>A) c.2579+44T>A (n.2579+44T>A) n.366+44T>A c.2681+44T>A (n.2681+44T>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.32656961A= | CA2386325179 | SYNJ1 | c.2696+42T= (n.2696+42T=) c.2564+42T= (n.2564+42T=) c.2579+42T= (n.2579+42T=) n.366+42T= c.2681+42T= (n.2681+42T=) | |
21 | g.32656961A>T | CA1021882350 | SYNJ1 | c.2696+42T>A (n.2696+42T>A) c.2564+42T>A (n.2564+42T>A) c.2579+42T>A (n.2579+42T>A) n.366+42T>A c.2681+42T>A (n.2681+42T>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.32656963A= | CA2386325180 | SYNJ1 | c.2696+40T= (n.2696+40T=) c.2564+40T= (n.2564+40T=) c.2579+40T= (n.2579+40T=) n.366+40T= c.2681+40T= (n.2681+40T=) | |
21 | g.32656963A>C | CA2654268471 | SYNJ1 | c.2696+40T>G (n.2696+40T>G) c.2564+40T>G (n.2564+40T>G) c.2579+40T>G (n.2579+40T>G) n.366+40T>G c.2681+40T>G (n.2681+40T>G) | gnomAD v4 |
21 | g.32656963A>G | CA1021882355 | SYNJ1 | c.2696+40T>C (n.2696+40T>C) c.2564+40T>C (n.2564+40T>C) c.2579+40T>C (n.2579+40T>C) n.366+40T>C c.2681+40T>C (n.2681+40T>C) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.32656965A= | CA2386325181 | SYNJ1 | c.2696+38T= (n.2696+38T=) c.2564+38T= (n.2564+38T=) c.2579+38T= (n.2579+38T=) n.366+38T= c.2681+38T= (n.2681+38T=) | |
21 | g.32656965A>G | CA748730131 | SYNJ1 | c.2696+38T>C (n.2696+38T>C) c.2564+38T>C (n.2564+38T>C) c.2579+38T>C (n.2579+38T>C) n.366+38T>C c.2681+38T>C (n.2681+38T>C) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.32656967T>C | CA638052304 | SYNJ1 | c.2696+36A>G (n.2696+36A>G) c.2564+36A>G (n.2564+36A>G) c.2579+36A>G (n.2579+36A>G) n.366+36A>G c.2681+36A>G (n.2681+36A>G) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.32656967T>G | CA1021882380 | SYNJ1 | c.2696+36A>C (n.2696+36A>C) c.2564+36A>C (n.2564+36A>C) c.2579+36A>C (n.2579+36A>C) n.366+36A>C c.2681+36A>C (n.2681+36A>C) | gnomAD v3 gnomAD v4 |
21 | g.32656967T= | CA2386325182 | SYNJ1 | c.2696+36A= (n.2696+36A=) c.2564+36A= (n.2564+36A=) c.2579+36A= (n.2579+36A=) n.366+36A= c.2681+36A= (n.2681+36A=) | |
21 | g.32656968T>C | CA2386325184 | SYNJ1 | c.2696+35A>G (n.2696+35A>G) c.2564+35A>G (n.2564+35A>G) c.2579+35A>G (n.2579+35A>G) n.366+35A>G c.2681+35A>G (n.2681+35A>G) | dbSNP gnomAD v4 |
21 | g.32656968T= | CA2386325183 | SYNJ1 | c.2696+35A= (n.2696+35A=) c.2564+35A= (n.2564+35A=) c.2579+35A= (n.2579+35A=) n.366+35A= c.2681+35A= (n.2681+35A=) | |
21 | g.32656969_32656971delinsCAA | CA2386325185 | SYNJ1 | c.2696+32_2696+34delinsTTG (n.2696+32_2696+34delinsTTG) c.2564+32_2564+34delinsTTG (n.2564+32_2564+34delinsTTG) c.2579+32_2579+34delinsTTG (n.2579+32_2579+34delinsTTG) n.366+32_366+34delinsTTG c.2681+32_2681+34delinsTTG (n.2681+32_2681+34delinsTTG) | |
21 | g.32656970A= | CA2386325186 | SYNJ1 | c.2696+33T= (n.2696+33T=) c.2564+33T= (n.2564+33T=) c.2579+33T= (n.2579+33T=) n.366+33T= c.2681+33T= (n.2681+33T=) | |
21 | g.32656970A>C | CA319425842 | SYNJ1 | c.2696+33T>G (n.2696+33T>G) c.2564+33T>G (n.2564+33T>G) c.2579+33T>G (n.2579+33T>G) n.366+33T>G c.2681+33T>G (n.2681+33T>G) | dbSNP gnomAD v4 |
21 | g.32656971_32656972del | CA638052305 | SYNJ1 | c.2696+32_2696+33del (n.2696+32_2696+33del) c.2564+32_2564+33del (n.2564+32_2564+33del) c.2579+32_2579+33del (n.2579+32_2579+33del) n.366+32_366+33del c.2681+32_2681+33del (n.2681+32_2681+33del) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.32656971A= | CA2386325187 | SYNJ1 | c.2696+32T= (n.2696+32T=) c.2564+32T= (n.2564+32T=) c.2579+32T= (n.2579+32T=) n.366+32T= c.2681+32T= (n.2681+32T=) | |
21 | g.32656971A>G | CA2386325188 | SYNJ1 | c.2696+32T>C (n.2696+32T>C) c.2564+32T>C (n.2564+32T>C) c.2579+32T>C (n.2579+32T>C) n.366+32T>C c.2681+32T>C (n.2681+32T>C) | dbSNP |
21 | g.32656973C= | CA2386325189 | SYNJ1 | c.2696+30G= (n.2696+30G=) c.2564+30G= (n.2564+30G=) c.2579+30G= (n.2579+30G=) n.366+30G= c.2681+30G= (n.2681+30G=) | |
21 | g.32656973C>T | CA2386325190 | SYNJ1 | c.2696+30G>A (n.2696+30G>A) c.2564+30G>A (n.2564+30G>A) c.2579+30G>A (n.2579+30G>A) n.366+30G>A c.2681+30G>A (n.2681+30G>A) | dbSNP gnomAD v4 |
21 | g.32656974A= | CA2386325191 | SYNJ1 | c.2696+29T= (n.2696+29T=) c.2564+29T= (n.2564+29T=) c.2579+29T= (n.2579+29T=) n.366+29T= c.2681+29T= (n.2681+29T=) | |
21 | g.32656974A>G | CA2386325192 | SYNJ1 | c.2696+29T>C (n.2696+29T>C) c.2564+29T>C (n.2564+29T>C) c.2579+29T>C (n.2579+29T>C) n.366+29T>C c.2681+29T>C (n.2681+29T>C) | dbSNP gnomAD v4 |
21 | g.32656974A>T | CA2654268472 | SYNJ1 | c.2696+29T>A (n.2696+29T>A) c.2564+29T>A (n.2564+29T>A) c.2579+29T>A (n.2579+29T>A) n.366+29T>A c.2681+29T>A (n.2681+29T>A) | gnomAD v4 |
21 | g.32656977A>G | CA2654268473 | SYNJ1 | c.2696+26T>C (n.2696+26T>C) c.2564+26T>C (n.2564+26T>C) c.2579+26T>C (n.2579+26T>C) n.366+26T>C c.2681+26T>C (n.2681+26T>C) | gnomAD v4 |
21 | g.32656984A= | CA2386325193 | SYNJ1 | c.2696+19T= (n.2696+19T=) c.2564+19T= (n.2564+19T=) c.2579+19T= (n.2579+19T=) n.366+19T= c.2681+19T= (n.2681+19T=) | |
21 | g.32656984A>G | CA2817728791 | SYNJ1 | c.2696+19T>C (n.2696+19T>C) c.2564+19T>C (n.2564+19T>C) c.2579+19T>C (n.2579+19T>C) n.366+19T>C c.2681+19T>C (n.2681+19T>C) | |
21 | g.32656984A>T | CA319425843 | SYNJ1 | c.2696+19T>A (n.2696+19T>A) c.2564+19T>A (n.2564+19T>A) c.2579+19T>A (n.2579+19T>A) n.366+19T>A c.2681+19T>A (n.2681+19T>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.32656986A= | CA2386325194 | SYNJ1 | c.2696+17T= (n.2696+17T=) c.2564+17T= (n.2564+17T=) c.2579+17T= (n.2579+17T=) n.366+17T= c.2681+17T= (n.2681+17T=) | |
21 | g.32656986A>G | CA638052306 | SYNJ1 | c.2696+17T>C (n.2696+17T>C) c.2564+17T>C (n.2564+17T>C) c.2579+17T>C (n.2579+17T>C) n.366+17T>C c.2681+17T>C (n.2681+17T>C) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.32656987C= | CA2386325195 | SYNJ1 | c.2696+16G= (n.2696+16G=) c.2564+16G= (n.2564+16G=) c.2579+16G= (n.2579+16G=) n.366+16G= c.2681+16G= (n.2681+16G=) | |
21 | g.32656987C>T | CA748730136 | SYNJ1 | c.2696+16G>A (n.2696+16G>A) c.2564+16G>A (n.2564+16G>A) c.2579+16G>A (n.2579+16G>A) n.366+16G>A c.2681+16G>A (n.2681+16G>A) | dbSNP gnomAD v4 |
21 | g.32656987_32656989delinsCTG | CA2386325196 | SYNJ1 | c.2696+14_2696+16delinsCAG (n.2696+14_2696+16delinsCAG) c.2564+14_2564+16delinsCAG (n.2564+14_2564+16delinsCAG) c.2579+14_2579+16delinsCAG (n.2579+14_2579+16delinsCAG) n.366+14_366+16delinsCAG c.2681+14_2681+16delinsCAG (n.2681+14_2681+16delinsCAG) | |
21 | g.32656988T>A | CA2654268474 | SYNJ1 | c.2696+15A>T (n.2696+15A>T) c.2564+15A>T (n.2564+15A>T) c.2579+15A>T (n.2579+15A>T) n.366+15A>T c.2681+15A>T (n.2681+15A>T) | gnomAD v4 |
21 | g.32656988_32656989del | CA2386325197 | SYNJ1 | c.2696+14_2696+15del (n.2696+14_2696+15del) c.2564+14_2564+15del (n.2564+14_2564+15del) c.2579+14_2579+15del (n.2579+14_2579+15del) n.366+14_366+15del c.2681+14_2681+15del (n.2681+14_2681+15del) | ClinVar dbSNP gnomAD v4 |
21 | g.32656989G>C | CA2580098559 | SYNJ1 | c.2696+14C>G (n.2696+14C>G) c.2564+14C>G (n.2564+14C>G) c.2579+14C>G (n.2579+14C>G) n.366+14C>G c.2681+14C>G (n.2681+14C>G) | ClinVar |
21 | g.32656990A= | CA2386325198 | SYNJ1 | c.2696+13T= (n.2696+13T=) c.2564+13T= (n.2564+13T=) c.2579+13T= (n.2579+13T=) n.366+13T= c.2681+13T= (n.2681+13T=) | |
21 | g.32656990A>C | CA657877171 | SYNJ1 | c.2696+13T>G (n.2696+13T>G) c.2564+13T>G (n.2564+13T>G) c.2579+13T>G (n.2579+13T>G) n.366+13T>G c.2681+13T>G (n.2681+13T>G) | COSMIC |
21 | g.32656990A>T | CA2386325199 | SYNJ1 | c.2696+13T>A (n.2696+13T>A) c.2564+13T>A (n.2564+13T>A) c.2579+13T>A (n.2579+13T>A) n.366+13T>A c.2681+13T>A (n.2681+13T>A) | dbSNP gnomAD v4 |
21 | g.32656991G>C | CA2654268475 | SYNJ1 | c.2696+12C>G (n.2696+12C>G) c.2564+12C>G (n.2564+12C>G) c.2579+12C>G (n.2579+12C>G) n.366+12C>G c.2681+12C>G (n.2681+12C>G) | gnomAD v4 |
21 | g.32656993C= | CA2386325200 | SYNJ1 | c.2696+10G= (n.2696+10G=) c.2564+10G= (n.2564+10G=) c.2579+10G= (n.2579+10G=) n.366+10G= c.2681+10G= (n.2681+10G=) | |
21 | g.32656993C>G | CA2654268476 | SYNJ1 | c.2696+10G>C (n.2696+10G>C) c.2564+10G>C (n.2564+10G>C) c.2579+10G>C (n.2579+10G>C) n.366+10G>C c.2681+10G>C (n.2681+10G>C) | gnomAD v4 |
21 | g.32656993C>T | CA10003634 | SYNJ1 | c.2696+10G>A (n.2696+10G>A) c.2564+10G>A (n.2564+10G>A) c.2579+10G>A (n.2579+10G>A) n.366+10G>A c.2681+10G>A (n.2681+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32656997T>G | CA10003635 | SYNJ1 | c.2696+6A>C (n.2696+6A>C) c.2564+6A>C (n.2564+6A>C) c.2579+6A>C (n.2579+6A>C) n.366+6A>C c.2681+6A>C (n.2681+6A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.32656997T= | CA2386325201 | SYNJ1 | c.2696+6A= (n.2696+6A=) c.2564+6A= (n.2564+6A=) c.2579+6A= (n.2579+6A=) n.366+6A= c.2681+6A= (n.2681+6A=) | |
21 | g.32656998_32656999dup | CA10003636 | SYNJ1 | c.2696+4_2696+5dup (n.2696+4_2696+5dup) c.2564+4_2564+5dup (n.2564+4_2564+5dup) c.2579+4_2579+5dup (n.2579+4_2579+5dup) n.366+4_366+5dup c.2681+4_2681+5dup (n.2681+4_2681+5dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.32657001A>C | CA410074122 | SYNJ1 | c.2696+2T>G (n.2696+2T>G) c.2564+2T>G (n.2564+2T>G) c.2579+2T>G (n.2579+2T>G) n.366+2T>G c.2681+2T>G (n.2681+2T>G) | |
21 | g.32657001A>G | CA410074124 | SYNJ1 | c.2696+2T>C (n.2696+2T>C) c.2564+2T>C (n.2564+2T>C) c.2579+2T>C (n.2579+2T>C) n.366+2T>C c.2681+2T>C (n.2681+2T>C) | |
21 | g.32657001A>T | CA410074123 | SYNJ1 | c.2696+2T>A (n.2696+2T>A) c.2564+2T>A (n.2564+2T>A) c.2579+2T>A (n.2579+2T>A) n.366+2T>A c.2681+2T>A (n.2681+2T>A) | |
21 | g.32657002C>A | CA410074125 | SYNJ1 | c.2696+1G>T (n.2696+1G>T) c.2564+1G>T (n.2564+1G>T) c.2579+1G>T (n.2579+1G>T) n.366+1G>T c.2681+1G>T (n.2681+1G>T) | COSMIC |
21 | g.32657002C>G | CA410074126 | SYNJ1 | c.2696+1G>C (n.2696+1G>C) c.2564+1G>C (n.2564+1G>C) c.2579+1G>C (n.2579+1G>C) n.366+1G>C c.2681+1G>C (n.2681+1G>C) | |
21 | g.32657002C>T | CA410074127 | SYNJ1 | c.2696+1G>A (n.2696+1G>A) c.2564+1G>A (n.2564+1G>A) c.2579+1G>A (n.2579+1G>A) n.366+1G>A c.2681+1G>A (n.2681+1G>A) | |
21 | g.32657003C>A | CA410074128 | SYNJ1 | c.2696G>T (p.Arg899Met) c.2564G>T (p.Arg855Met) c.2579G>T (p.Arg860Met) n.366G>T c.2681G>T (p.Arg894Met) | |
21 | g.32657003C>G | CA410074129 | SYNJ1 | c.2696G>C (p.Arg899Thr) c.2564G>C (p.Arg855Thr) c.2579G>C (p.Arg860Thr) n.366G>C c.2681G>C (p.Arg894Thr) | |
21 | g.32657003C>T | CA410074130 | SYNJ1 | c.2696G>A (p.Arg899Lys) c.2564G>A (p.Arg855Lys) c.2579G>A (p.Arg860Lys) n.366G>A c.2681G>A (p.Arg894Lys) | |
21 | g.32657004T>A | CA410074131 | SYNJ1 | c.2695A>T (p.Arg899Trp) c.2563A>T (p.Arg855Trp) c.2578A>T (p.Arg860Trp) n.365A>T c.2680A>T (p.Arg894Trp) | |
21 | g.32657004T>C | CA410074132 | SYNJ1 | c.2695A>G (p.Arg899Gly) c.2563A>G (p.Arg855Gly) c.2578A>G (p.Arg860Gly) n.365A>G c.2680A>G (p.Arg894Gly) | |
21 | g.32657004T>G | CA512332194 | SYNJ1 | c.2695A>C (p.Arg899=) c.2563A>C (p.Arg855=) c.2578A>C (p.Arg860=) n.365A>C c.2680A>C (p.Arg894=) | |
21 | g.32657005G>A | CA512332196 | SYNJ1 | c.2694C>T (p.His898=) c.2562C>T (p.His854=) c.2577C>T (p.His859=) n.364C>T c.2679C>T (p.His893=) | |
21 | g.32657005G>C | CA410074133 | SYNJ1 | c.2694C>G (p.His898Gln) c.2562C>G (p.His854Gln) c.2577C>G (p.His859Gln) n.364C>G c.2679C>G (p.His893Gln) | |
21 | g.32657005G>T | CA410074134 | SYNJ1 | c.2694C>A (p.His898Gln) c.2562C>A (p.His854Gln) c.2577C>A (p.His859Gln) n.364C>A c.2679C>A (p.His893Gln) | |
21 | g.32657006T>A | CA410074135 | SYNJ1 | c.2693A>T (p.His898Leu) c.2561A>T (p.His854Leu) c.2576A>T (p.His859Leu) n.363A>T c.2678A>T (p.His893Leu) | |
21 | g.32657006T>C | CA410074136 | SYNJ1 | c.2693A>G (p.His898Arg) c.2561A>G (p.His854Arg) c.2576A>G (p.His859Arg) n.363A>G c.2678A>G (p.His893Arg) | |
21 | g.32657006T>G | CA410074137 | SYNJ1 | c.2693A>C (p.His898Pro) c.2561A>C (p.His854Pro) c.2576A>C (p.His859Pro) n.363A>C c.2678A>C (p.His893Pro) | |
21 | g.32657007G>A | CA410074138 | SYNJ1 | c.2692C>T (p.His898Tyr) c.2560C>T (p.His854Tyr) c.2575C>T (p.His859Tyr) n.362C>T c.2677C>T (p.His893Tyr) | |
21 | g.32657007G>C | CA410074140 | SYNJ1 | c.2692C>G (p.His898Asp) c.2560C>G (p.His854Asp) c.2575C>G (p.His859Asp) n.362C>G c.2677C>G (p.His893Asp) | |
21 | g.32657007G>T | CA410074139 | SYNJ1 | c.2692C>A (p.His898Asn) c.2560C>A (p.His854Asn) c.2575C>A (p.His859Asn) n.362C>A c.2677C>A (p.His893Asn) | |
21 | g.32657008G>A | CA512332200 | SYNJ1 | c.2691C>T (p.Asp897=) c.2559C>T (p.Asp853=) c.2574C>T (p.Asp858=) n.361C>T c.2676C>T (p.Asp892=) | |
21 | g.32657008G>C | CA410074141 | SYNJ1 | c.2691C>G (p.Asp897Glu) c.2559C>G (p.Asp853Glu) c.2574C>G (p.Asp858Glu) n.361C>G c.2676C>G (p.Asp892Glu) | |
21 | g.32657008G>T | CA410074142 | SYNJ1 | c.2691C>A (p.Asp897Glu) c.2559C>A (p.Asp853Glu) c.2574C>A (p.Asp858Glu) n.361C>A c.2676C>A (p.Asp892Glu) | |
21 | g.32657009T>A | CA410074143 | SYNJ1 | c.2690A>T (p.Asp897Val) c.2558A>T (p.Asp853Val) c.2573A>T (p.Asp858Val) n.360A>T c.2675A>T (p.Asp892Val) | |
21 | g.32657009T>C | CA410074144 | SYNJ1 | c.2690A>G (p.Asp897Gly) c.2558A>G (p.Asp853Gly) c.2573A>G (p.Asp858Gly) n.360A>G c.2675A>G (p.Asp892Gly) | |
21 | g.32657009T>G | CA410074145 | SYNJ1 | c.2690A>C (p.Asp897Ala) c.2558A>C (p.Asp853Ala) c.2573A>C (p.Asp858Ala) n.360A>C c.2675A>C (p.Asp892Ala) | |
21 | g.32657010C>A | CA410074146 | SYNJ1 | c.2689G>T (p.Asp897Tyr) c.2557G>T (p.Asp853Tyr) c.2572G>T (p.Asp858Tyr) n.359G>T c.2674G>T (p.Asp892Tyr) | gnomAD v4 |
21 | g.32657010C>G | CA410074147 | SYNJ1 | c.2689G>C (p.Asp897His) c.2557G>C (p.Asp853His) c.2572G>C (p.Asp858His) n.359G>C c.2674G>C (p.Asp892His) | |
21 | g.32657010C>T | CA410074148 | SYNJ1 | c.2689G>A (p.Asp897Asn) c.2557G>A (p.Asp853Asn) c.2572G>A (p.Asp858Asn) n.359G>A c.2674G>A (p.Asp892Asn) | COSMIC COSMIC |
21 | g.32657011A>C | CA512332203 | SYNJ1 | c.2688T>G (p.Ser896=) c.2556T>G (p.Ser852=) c.2571T>G (p.Ser857=) n.358T>G c.2673T>G (p.Ser891=) | |
21 | g.32657011A>G | CA512332205 | SYNJ1 | c.2688T>C (p.Ser896=) c.2556T>C (p.Ser852=) c.2571T>C (p.Ser857=) n.358T>C c.2673T>C (p.Ser891=) | gnomAD v4 |
21 | g.32657011A>T | CA512332204 | SYNJ1 | c.2688T>A (p.Ser896=) c.2556T>A (p.Ser852=) c.2571T>A (p.Ser857=) n.358T>A c.2673T>A (p.Ser891=) | |
21 | g.32657012G>A | CA410074149 | SYNJ1 | c.2687C>T (p.Ser896Phe) c.2555C>T (p.Ser852Phe) c.2570C>T (p.Ser857Phe) n.357C>T c.2672C>T (p.Ser891Phe) | |
21 | g.32657012G>C | CA410074150 | SYNJ1 | c.2687C>G (p.Ser896Cys) c.2555C>G (p.Ser852Cys) c.2570C>G (p.Ser857Cys) n.357C>G c.2672C>G (p.Ser891Cys) | |
21 | g.32657012G>T | CA410074151 | SYNJ1 | c.2687C>A (p.Ser896Tyr) c.2555C>A (p.Ser852Tyr) c.2570C>A (p.Ser857Tyr) n.357C>A c.2672C>A (p.Ser891Tyr) | |
21 | g.32657013A>C | CA410074153 | SYNJ1 | c.2686T>G (p.Ser896Ala) c.2554T>G (p.Ser852Ala) c.2569T>G (p.Ser857Ala) n.356T>G c.2671T>G (p.Ser891Ala) | |
21 | g.32657013A>G | CA410074154 | SYNJ1 | c.2686T>C (p.Ser896Pro) c.2554T>C (p.Ser852Pro) c.2569T>C (p.Ser857Pro) n.356T>C c.2671T>C (p.Ser891Pro) | |
21 | g.32657013A>T | CA410074152 | SYNJ1 | c.2686T>A (p.Ser896Thr) c.2554T>A (p.Ser852Thr) c.2569T>A (p.Ser857Thr) n.356T>A c.2671T>A (p.Ser891Thr) | |
21 | g.32657014A>C | CA512332207 | SYNJ1 | c.2685T>G (p.Thr895=) c.2553T>G (p.Thr851=) c.2568T>G (p.Thr856=) n.355T>G c.2670T>G (p.Thr890=) | gnomAD v4 |
21 | g.32657014A>G | CA512332209 | SYNJ1 | c.2685T>C (p.Thr895=) c.2553T>C (p.Thr851=) c.2568T>C (p.Thr856=) n.355T>C c.2670T>C (p.Thr890=) | |
21 | g.32657014A>T | CA512332208 | SYNJ1 | c.2685T>A (p.Thr895=) c.2553T>A (p.Thr851=) c.2568T>A (p.Thr856=) n.355T>A c.2670T>A (p.Thr890=) | |
21 | g.32657015G>A | CA410074155 | SYNJ1 | c.2684C>T (p.Thr895Ile) c.2552C>T (p.Thr851Ile) c.2567C>T (p.Thr856Ile) n.354C>T c.2669C>T (p.Thr890Ile) | |
21 | g.32657015G>C | CA410074156 | SYNJ1 | c.2684C>G (p.Thr895Ser) c.2552C>G (p.Thr851Ser) c.2567C>G (p.Thr856Ser) n.354C>G c.2669C>G (p.Thr890Ser) | gnomAD v4 |
21 | g.32657015G= | CA2386325202 | SYNJ1 | c.2684C= (p.Thr895=) c.2552C= (p.Thr851=) c.2567C= (p.Thr856=) n.354C= c.2669C= (p.Thr890=) | |
21 | g.32657015G>T | CA410074157 | SYNJ1 | c.2684C>A (p.Thr895Asn) c.2552C>A (p.Thr851Asn) c.2567C>A (p.Thr856Asn) n.354C>A c.2669C>A (p.Thr890Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32657016T>A | CA410074158 | SYNJ1 | c.2683A>T (p.Thr895Ser) c.2551A>T (p.Thr851Ser) c.2566A>T (p.Thr856Ser) n.353A>T c.2668A>T (p.Thr890Ser) | |
21 | g.32657016T>C | CA410074159 | SYNJ1 | c.2683A>G (p.Thr895Ala) c.2551A>G (p.Thr851Ala) c.2566A>G (p.Thr856Ala) n.353A>G c.2668A>G (p.Thr890Ala) | |
21 | g.32657016T>G | CA410074160 | SYNJ1 | c.2683A>C (p.Thr895Pro) c.2551A>C (p.Thr851Pro) c.2566A>C (p.Thr856Pro) n.353A>C c.2668A>C (p.Thr890Pro) | gnomAD v4 |
21 | g.32657017C>A | CA410074163 | SYNJ1 | c.2682G>T (p.Lys894Asn) c.2550G>T (p.Lys850Asn) c.2565G>T (p.Lys855Asn) n.352G>T c.2667G>T (p.Lys889Asn) | |
21 | g.32657017C>G | CA410074161 | SYNJ1 | c.2682G>C (p.Lys894Asn) c.2550G>C (p.Lys850Asn) c.2565G>C (p.Lys855Asn) n.352G>C c.2667G>C (p.Lys889Asn) | |
21 | g.32657017C>T | CA512332210 | SYNJ1 | c.2682G>A (p.Lys894=) c.2550G>A (p.Lys850=) c.2565G>A (p.Lys855=) n.352G>A c.2667G>A (p.Lys889=) | |
21 | g.32657018T>A | CA410074167 | SYNJ1 | c.2681A>T (p.Lys894Met) c.2549A>T (p.Lys850Met) c.2564A>T (p.Lys855Met) n.351A>T c.2666A>T (p.Lys889Met) | |
21 | g.32657018T>C | CA410074170 | SYNJ1 | c.2681A>G (p.Lys894Arg) c.2549A>G (p.Lys850Arg) c.2564A>G (p.Lys855Arg) n.351A>G c.2666A>G (p.Lys889Arg) | |
21 | g.32657018T>G | CA410074172 | SYNJ1 | c.2681A>C (p.Lys894Thr) c.2549A>C (p.Lys850Thr) c.2564A>C (p.Lys855Thr) n.351A>C c.2666A>C (p.Lys889Thr) | |
21 | g.32657019T>A | CA410074175 | SYNJ1 | c.2680A>T (p.Lys894Ter) c.2548A>T (p.Lys850Ter) c.2563A>T (p.Lys855Ter) n.350A>T c.2665A>T (p.Lys889Ter) | |
21 | g.32657019T>C | CA410074184 | SYNJ1 | c.2680A>G (p.Lys894Glu) c.2548A>G (p.Lys850Glu) c.2563A>G (p.Lys855Glu) n.350A>G c.2665A>G (p.Lys889Glu) | |
21 | g.32657019T>G | CA410074187 | SYNJ1 | c.2680A>C (p.Lys894Gln) c.2548A>C (p.Lys850Gln) c.2563A>C (p.Lys855Gln) n.350A>C c.2665A>C (p.Lys889Gln) | |
21 | g.32657020C>A | CA512332213 | SYNJ1 | c.2679G>T (p.Leu893=) c.2547G>T (p.Leu849=) c.2562G>T (p.Leu854=) n.349G>T c.2664G>T (p.Leu888=) | |
21 | g.32657020C>G | CA512332211 | SYNJ1 | c.2679G>C (p.Leu893=) c.2547G>C (p.Leu849=) c.2562G>C (p.Leu854=) n.349G>C c.2664G>C (p.Leu888=) | |
21 | g.32657020C>T | CA512332212 | SYNJ1 | c.2679G>A (p.Leu893=) c.2547G>A (p.Leu849=) c.2562G>A (p.Leu854=) n.349G>A c.2664G>A (p.Leu888=) | |
21 | g.32657021A>C | CA410074194 | SYNJ1 | c.2678T>G (p.Leu893Arg) c.2546T>G (p.Leu849Arg) c.2561T>G (p.Leu854Arg) n.348T>G c.2663T>G (p.Leu888Arg) | |
21 | g.32657021A>G | CA410074191 | SYNJ1 | c.2678T>C (p.Leu893Pro) c.2546T>C (p.Leu849Pro) c.2561T>C (p.Leu854Pro) n.348T>C c.2663T>C (p.Leu888Pro) | |
21 | g.32657021A>T | CA410074193 | SYNJ1 | c.2678T>A (p.Leu893Gln) c.2546T>A (p.Leu849Gln) c.2561T>A (p.Leu854Gln) n.348T>A c.2663T>A (p.Leu888Gln) | |
21 | g.32657022G>A | CA512332214 | SYNJ1 | c.2677C>T (p.Leu893=) c.2545C>T (p.Leu849=) c.2560C>T (p.Leu854=) n.347C>T c.2662C>T (p.Leu888=) | |
21 | g.32657022G>C | CA410074197 | SYNJ1 | c.2677C>G (p.Leu893Val) c.2545C>G (p.Leu849Val) c.2560C>G (p.Leu854Val) n.347C>G c.2662C>G (p.Leu888Val) | |
21 | g.32657022G>T | CA410074199 | SYNJ1 | c.2677C>A (p.Leu893Met) c.2545C>A (p.Leu849Met) c.2560C>A (p.Leu854Met) n.347C>A c.2662C>A (p.Leu888Met) | |
21 | g.32657023C>A | CA410074200 | SYNJ1 | c.2676G>T (p.Glu892Asp) c.2544G>T (p.Glu848Asp) c.2559G>T (p.Glu853Asp) n.346G>T c.2661G>T (p.Glu887Asp) | |
21 | g.32657023C>G | CA410074202 | SYNJ1 | c.2676G>C (p.Glu892Asp) c.2544G>C (p.Glu848Asp) c.2559G>C (p.Glu853Asp) n.346G>C c.2661G>C (p.Glu887Asp) | |
21 | g.32657023C>T | CA512332215 | SYNJ1 | c.2676G>A (p.Glu892=) c.2544G>A (p.Glu848=) c.2559G>A (p.Glu853=) n.346G>A c.2661G>A (p.Glu887=) | |
21 | g.32657024T>A | CA410074206 | SYNJ1 | c.2675A>T (p.Glu892Val) c.2543A>T (p.Glu848Val) c.2558A>T (p.Glu853Val) n.345A>T c.2660A>T (p.Glu887Val) | |
21 | g.32657024T>C | CA410074208 | SYNJ1 | c.2675A>G (p.Glu892Gly) c.2543A>G (p.Glu848Gly) c.2558A>G (p.Glu853Gly) n.345A>G c.2660A>G (p.Glu887Gly) | |
21 | g.32657024T>G | CA410074210 | SYNJ1 | c.2675A>C (p.Glu892Ala) c.2543A>C (p.Glu848Ala) c.2558A>C (p.Glu853Ala) n.345A>C c.2660A>C (p.Glu887Ala) | |
21 | g.32657025C>A | CA410074213 | SYNJ1 | c.2674G>T (p.Glu892Ter) c.2542G>T (p.Glu848Ter) c.2557G>T (p.Glu853Ter) n.344G>T c.2659G>T (p.Glu887Ter) | |
21 | g.32657025C>G | CA410074215 | SYNJ1 | c.2674G>C (p.Glu892Gln) c.2542G>C (p.Glu848Gln) c.2557G>C (p.Glu853Gln) n.344G>C c.2659G>C (p.Glu887Gln) | |
21 | g.32657025C>T | CA410074218 | SYNJ1 | c.2674G>A (p.Glu892Lys) c.2542G>A (p.Glu848Lys) c.2557G>A (p.Glu853Lys) n.344G>A c.2659G>A (p.Glu887Lys) | |
21 | g.32657026A>C | CA512332221 | SYNJ1 | c.2673T>G (p.Ala891=) c.2541T>G (p.Ala847=) c.2556T>G (p.Ala852=) n.343T>G c.2658T>G (p.Ala886=) | |
21 | g.32657026A>G | CA512332219 | SYNJ1 | c.2673T>C (p.Ala891=) c.2541T>C (p.Ala847=) c.2556T>C (p.Ala852=) n.343T>C c.2658T>C (p.Ala886=) | |
21 | g.32657026A>T | CA512332220 | SYNJ1 | c.2673T>A (p.Ala891=) c.2541T>A (p.Ala847=) c.2556T>A (p.Ala852=) n.343T>A c.2658T>A (p.Ala886=) | |
21 | g.32657027G>A | CA410074221 | SYNJ1 | c.2672C>T (p.Ala891Val) c.2540C>T (p.Ala847Val) c.2555C>T (p.Ala852Val) n.342C>T c.2657C>T (p.Ala886Val) | |
21 | g.32657027G>C | CA410074223 | SYNJ1 | c.2672C>G (p.Ala891Gly) c.2540C>G (p.Ala847Gly) c.2555C>G (p.Ala852Gly) n.342C>G c.2657C>G (p.Ala886Gly) | |
21 | g.32657027G>T | CA410074224 | SYNJ1 | c.2672C>A (p.Ala891Asp) c.2540C>A (p.Ala847Asp) c.2555C>A (p.Ala852Asp) n.342C>A c.2657C>A (p.Ala886Asp) | |
21 | g.32657028C>A | CA410074227 | SYNJ1 | c.2671G>T (p.Ala891Ser) c.2539G>T (p.Ala847Ser) c.2554G>T (p.Ala852Ser) n.341G>T c.2656G>T (p.Ala886Ser) | |
21 | g.32657028C>G | CA410074231 | SYNJ1 | c.2671G>C (p.Ala891Pro) c.2539G>C (p.Ala847Pro) c.2554G>C (p.Ala852Pro) n.341G>C c.2656G>C (p.Ala886Pro) | |
21 | g.32657028C>T | CA410074229 | SYNJ1 | c.2671G>A (p.Ala891Thr) c.2539G>A (p.Ala847Thr) c.2554G>A (p.Ala852Thr) n.341G>A c.2656G>A (p.Ala886Thr) | ClinVar |
21 | g.32657029T>A | CA410074233 | SYNJ1 | c.2670A>T (p.Arg890Ser) c.2538A>T (p.Arg846Ser) c.2553A>T (p.Arg851Ser) n.340A>T c.2655A>T (p.Arg885Ser) | |
21 | g.32657029T>C | CA512332223 | SYNJ1 | c.2670A>G (p.Arg890=) c.2538A>G (p.Arg846=) c.2553A>G (p.Arg851=) n.340A>G c.2655A>G (p.Arg885=) | |
21 | g.32657029T>G | CA410074234 | SYNJ1 | c.2670A>C (p.Arg890Ser) c.2538A>C (p.Arg846Ser) c.2553A>C (p.Arg851Ser) n.340A>C c.2655A>C (p.Arg885Ser) | |
21 | g.32657030C>A | CA410074237 | SYNJ1 | c.2669G>T (p.Arg890Ile) c.2537G>T (p.Arg846Ile) c.2552G>T (p.Arg851Ile) n.339G>T c.2654G>T (p.Arg885Ile) | |
21 | g.32657030C>G | CA410074239 | SYNJ1 | c.2669G>C (p.Arg890Thr) c.2537G>C (p.Arg846Thr) c.2552G>C (p.Arg851Thr) n.339G>C c.2654G>C (p.Arg885Thr) | |
21 | g.32657030C>T | CA410074241 | SYNJ1 | c.2669G>A (p.Arg890Lys) c.2537G>A (p.Arg846Lys) c.2552G>A (p.Arg851Lys) n.339G>A c.2654G>A (p.Arg885Lys) | |
21 | g.32657031T>A | CA410074243 | SYNJ1 | c.2668A>T (p.Arg890Ter) c.2536A>T (p.Arg846Ter) c.2551A>T (p.Arg851Ter) n.338A>T c.2653A>T (p.Arg885Ter) | |
21 | g.32657031T>C | CA410074246 | SYNJ1 | c.2668A>G (p.Arg890Gly) c.2536A>G (p.Arg846Gly) c.2551A>G (p.Arg851Gly) n.338A>G c.2653A>G (p.Arg885Gly) | |
21 | g.32657031T>G | CA512332224 | SYNJ1 | c.2668A>C (p.Arg890=) c.2536A>C (p.Arg846=) c.2551A>C (p.Arg851=) n.338A>C c.2653A>C (p.Arg885=) | |
21 | g.32657032T>A | CA512332225 | SYNJ1 | c.2667A>T (p.Gly889=) c.2535A>T (p.Gly845=) c.2550A>T (p.Gly850=) n.337A>T c.2652A>T (p.Gly884=) | |
21 | g.32657032T>C | CA512332226 | SYNJ1 | c.2667A>G (p.Gly889=) c.2535A>G (p.Gly845=) c.2550A>G (p.Gly850=) n.337A>G c.2652A>G (p.Gly884=) | |
21 | g.32657032T>G | CA512332227 | SYNJ1 | c.2667A>C (p.Gly889=) c.2535A>C (p.Gly845=) c.2550A>C (p.Gly850=) n.337A>C c.2652A>C (p.Gly884=) | |
21 | g.32657033C>A | CA410074248 | SYNJ1 | c.2666G>T (p.Gly889Val) c.2534G>T (p.Gly845Val) c.2549G>T (p.Gly850Val) n.336G>T c.2651G>T (p.Gly884Val) | |
21 | g.32657033C>G | CA410074249 | SYNJ1 | c.2666G>C (p.Gly889Ala) c.2534G>C (p.Gly845Ala) c.2549G>C (p.Gly850Ala) n.336G>C c.2651G>C (p.Gly884Ala) | |
21 | g.32657033C>T | CA410074251 | SYNJ1 | c.2666G>A (p.Gly889Glu) c.2534G>A (p.Gly845Glu) c.2549G>A (p.Gly850Glu) n.336G>A c.2651G>A (p.Gly884Glu) | |
21 | g.32657034C>A | CA410074254 | SYNJ1 | c.2665G>T (p.Gly889Ter) c.2533G>T (p.Gly845Ter) c.2548G>T (p.Gly850Ter) n.335G>T c.2650G>T (p.Gly884Ter) | |
21 | g.32657034C>G | CA410074256 | SYNJ1 | c.2665G>C (p.Gly889Arg) c.2533G>C (p.Gly845Arg) c.2548G>C (p.Gly850Arg) n.335G>C c.2650G>C (p.Gly884Arg) | |
21 | g.32657034C>T | CA410074258 | SYNJ1 | c.2665G>A (p.Gly889Arg) c.2533G>A (p.Gly845Arg) c.2548G>A (p.Gly850Arg) n.335G>A c.2650G>A (p.Gly884Arg) | |
21 | g.32657035A= | CA2386325203 | SYNJ1 | c.2664T= (p.Tyr888=) c.2532T= (p.Tyr844=) c.2547T= (p.Tyr849=) n.334T= c.2649T= (p.Tyr883=) | |
21 | g.32657035A>C | CA410074265 | SYNJ1 | c.2664T>G (p.Tyr888Ter) c.2532T>G (p.Tyr844Ter) c.2547T>G (p.Tyr849Ter) n.334T>G c.2649T>G (p.Tyr883Ter) | |
21 | g.32657035A>G | CA319425845 | SYNJ1 | c.2664T>C (p.Tyr888=) c.2532T>C (p.Tyr844=) c.2547T>C (p.Tyr849=) n.334T>C c.2649T>C (p.Tyr883=) | ClinVar dbSNP gnomAD v4 |
21 | g.32657035A>T | CA410074262 | SYNJ1 | c.2664T>A (p.Tyr888Ter) c.2532T>A (p.Tyr844Ter) c.2547T>A (p.Tyr849Ter) n.334T>A c.2649T>A (p.Tyr883Ter) | |
21 | g.32657036T>A | CA410074268 | SYNJ1 | c.2663A>T (p.Tyr888Phe) c.2531A>T (p.Tyr844Phe) c.2546A>T (p.Tyr849Phe) n.333A>T c.2648A>T (p.Tyr883Phe) | |
21 | g.32657036T>C | CA16609236 | SYNJ1 | c.2663A>G (p.Tyr888Cys) c.2531A>G (p.Tyr844Cys) c.2546A>G (p.Tyr849Cys) n.333A>G c.2648A>G (p.Tyr883Cys) | ClinVar dbSNP gnomAD v4 |
21 | g.32657036T>G | CA410074270 | SYNJ1 | c.2663A>C (p.Tyr888Ser) c.2531A>C (p.Tyr844Ser) c.2546A>C (p.Tyr849Ser) n.333A>C c.2648A>C (p.Tyr883Ser) | |
21 | g.32657036T= | CA2386325204 | SYNJ1 | c.2663A= (p.Tyr888=) c.2531A= (p.Tyr844=) c.2546A= (p.Tyr849=) n.333A= c.2648A= (p.Tyr883=) | |
21 | g.32657037A= | CA2386325205 | SYNJ1 | c.2662T= (p.Tyr888=) c.2530T= (p.Tyr844=) c.2545T= (p.Tyr849=) n.332T= c.2647T= (p.Tyr883=) | |
21 | g.32657037A>C | CA410074275 | SYNJ1 | c.2662T>G (p.Tyr888Asp) c.2530T>G (p.Tyr844Asp) c.2545T>G (p.Tyr849Asp) n.332T>G c.2647T>G (p.Tyr883Asp) | |
21 | g.32657037A>G | CA319425847 | SYNJ1 | c.2662T>C (p.Tyr888His) c.2530T>C (p.Tyr844His) c.2545T>C (p.Tyr849His) n.332T>C c.2647T>C (p.Tyr883His) | dbSNP gnomAD v4 |
21 | g.32657037A>T | CA410074279 | SYNJ1 | c.2662T>A (p.Tyr888Asn) c.2530T>A (p.Tyr844Asn) c.2545T>A (p.Tyr849Asn) n.332T>A c.2647T>A (p.Tyr883Asn) | |
21 | g.32657038G>A | CA10003637 | SYNJ1 | c.2661C>T (p.His887=) c.2529C>T (p.His843=) c.2544C>T (p.His848=) n.331C>T c.2646C>T (p.His882=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32657038G>C | CA410074283 | SYNJ1 | c.2661C>G (p.His887Gln) c.2529C>G (p.His843Gln) c.2544C>G (p.His848Gln) n.331C>G c.2646C>G (p.His882Gln) | |
21 | g.32657038G= | CA2386325206 | SYNJ1 | c.2661C= (p.His887=) c.2529C= (p.His843=) c.2544C= (p.His848=) n.331C= c.2646C= (p.His882=) | |
21 | g.32657038G>T | CA410074284 | SYNJ1 | c.2661C>A (p.His887Gln) c.2529C>A (p.His843Gln) c.2544C>A (p.His848Gln) n.331C>A c.2646C>A (p.His882Gln) | |
21 | g.32657039T>A | CA410074288 | SYNJ1 | c.2660A>T (p.His887Leu) c.2528A>T (p.His843Leu) c.2543A>T (p.His848Leu) n.330A>T c.2645A>T (p.His882Leu) | |
21 | g.32657039T>C | CA410074290 | SYNJ1 | c.2660A>G (p.His887Arg) c.2528A>G (p.His843Arg) c.2543A>G (p.His848Arg) n.330A>G c.2645A>G (p.His882Arg) | gnomAD v4 |
21 | g.32657039T>G | CA10003638 | SYNJ1 | c.2660A>C (p.His887Pro) c.2528A>C (p.His843Pro) c.2543A>C (p.His848Pro) n.330A>C c.2645A>C (p.His882Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.32657039T= | CA2386325207 | SYNJ1 | c.2660A= (p.His887=) c.2528A= (p.His843=) c.2543A= (p.His848=) n.330A= c.2645A= (p.His882=) | |
21 | g.32657040G>A | CA10003639 | SYNJ1 | c.2659C>T (p.His887Tyr) c.2527C>T (p.His843Tyr) c.2542C>T (p.His848Tyr) n.329C>T c.2644C>T (p.His882Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32657040G>C | CA410074297 | SYNJ1 | c.2659C>G (p.His887Asp) c.2527C>G (p.His843Asp) c.2542C>G (p.His848Asp) n.329C>G c.2644C>G (p.His882Asp) | |
21 | g.32657040G= | CA2386325208 | SYNJ1 | c.2659C= (p.His887=) c.2527C= (p.His843=) c.2542C= (p.His848=) n.329C= c.2644C= (p.His882=) | |
21 | g.32657040G>T | CA410074294 | SYNJ1 | c.2659C>A (p.His887Asn) c.2527C>A (p.His843Asn) c.2542C>A (p.His848Asn) n.329C>A c.2644C>A (p.His882Asn) | |
21 | g.32657040_32657041delinsAA | CA915952592 | SYNJ1 | c.2658_2659delinsTT (p.His887Tyr) c.2526_2527delinsTT (p.His843Tyr) c.2541_2542delinsTT (p.His848Tyr) n.328_329delinsTT c.2643_2644delinsTT (p.His882Tyr) | ClinVar dbSNP |
21 | g.32657040_32657041delinsGC | CA2386325209 | SYNJ1 | c.2658_2659delinsGC (p.Leu886=) c.2526_2527delinsGC (p.Leu842=) c.2541_2542delinsGC (p.Leu847=) n.328_329delinsGC c.2643_2644delinsGC (p.Leu881=) | |
21 | g.32657041C>A | CA10003640 | SYNJ1 | c.2658G>T (p.Leu886=) c.2526G>T (p.Leu842=) c.2541G>T (p.Leu847=) n.328G>T c.2643G>T (p.Leu881=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.32657041C= | CA2386325210 | SYNJ1 | c.2658G= (p.Leu886=) c.2526G= (p.Leu842=) c.2541G= (p.Leu847=) n.328G= c.2643G= (p.Leu881=) | |
21 | g.32657041C>G | CA512332231 | SYNJ1 | c.2658G>C (p.Leu886=) c.2526G>C (p.Leu842=) c.2541G>C (p.Leu847=) n.328G>C c.2643G>C (p.Leu881=) | |
21 | g.32657041C>T | CA512332230 | SYNJ1 | c.2658G>A (p.Leu886=) c.2526G>A (p.Leu842=) c.2541G>A (p.Leu847=) n.328G>A c.2643G>A (p.Leu881=) |