Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.32656932_32656939delCA2386325161SYNJ1c.2697-36_2697-29del (n.2697-36_2697-29del)
c.2565-36_2565-29del (n.2565-36_2565-29del)
c.2580-36_2580-29del (n.2580-36_2580-29del)
n.367-36_367-29del
c.2682-36_2682-29del (n.2682-36_2682-29del)
 dbSNP gnomAD v4
21g.32656939T>GCA10003629SYNJ1c.2697-37A>C (n.2697-37A>C)
c.2565-37A>C (n.2565-37A>C)
c.2580-37A>C (n.2580-37A>C)
n.367-37A>C
c.2682-37A>C (n.2682-37A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32656939T=CA2386325169SYNJ1c.2697-37A= (n.2697-37A=)
c.2565-37A= (n.2565-37A=)
c.2580-37A= (n.2580-37A=)
n.367-37A=
c.2682-37A= (n.2682-37A=)
21g.32656943dupCA2654268469SYNJ1c.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
21g.32656940T>CCA2386325171SYNJ1c.2697-38A>G (n.2697-38A>G)
c.2565-38A>G (n.2565-38A>G)
c.2580-38A>G (n.2580-38A>G)
n.367-38A>G
c.2682-38A>G (n.2682-38A>G)
 dbSNP gnomAD v4
21g.32656940T=CA2386325170SYNJ1c.2697-38A= (n.2697-38A=)
c.2565-38A= (n.2565-38A=)
c.2580-38A= (n.2580-38A=)
n.367-38A=
c.2682-38A= (n.2682-38A=)
21g.32656948G>ACA2654268470SYNJ1c.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
21g.32656950G>ACA10003631SYNJ1c.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
21g.32656950G=CA2386325173SYNJ1c.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=)
21g.32656950G>TCA10003630SYNJ1c.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
21g.32656950_32656958delinsGTGTATTTCCA2386325172SYNJ1c.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)
21g.32656951T>CCA2577476173SYNJ1c.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)
21g.32656951_32656958delCA10003632SYNJ1c.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
21g.32656952G>ACA10003633SYNJ1c.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
21g.32656952G=CA2386325174SYNJ1c.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=)
21g.32656954A=CA2386325175SYNJ1c.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=)
21g.32656954A>CCA638052301SYNJ1c.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
21g.32656954A>GCA2577476174SYNJ1c.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)
21g.32656955T>ACA638052302SYNJ1c.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
21g.32656955T=CA2386325176SYNJ1c.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=)
21g.32656957T>CCA638052303SYNJ1c.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
21g.32656957T=CA2386325177SYNJ1c.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=)
21g.32656959A=CA2386325178SYNJ1c.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=)
21g.32656959A>TCA1021882346SYNJ1c.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
21g.32656961A=CA2386325179SYNJ1c.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=)
21g.32656961A>TCA1021882350SYNJ1c.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
21g.32656963A=CA2386325180SYNJ1c.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=)
21g.32656963A>CCA2654268471SYNJ1c.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
21g.32656963A>GCA1021882355SYNJ1c.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
21g.32656965A=CA2386325181SYNJ1c.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=)
21g.32656965A>GCA748730131SYNJ1c.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
21g.32656967T>CCA638052304SYNJ1c.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
21g.32656967T>GCA1021882380SYNJ1c.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
21g.32656967T=CA2386325182SYNJ1c.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=)
21g.32656968T>CCA2386325184SYNJ1c.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
21g.32656968T=CA2386325183SYNJ1c.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=)
21g.32656969_32656971delinsCAACA2386325185SYNJ1c.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)
21g.32656970A=CA2386325186SYNJ1c.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=)
21g.32656970A>CCA319425842SYNJ1c.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
21g.32656971_32656972delCA638052305SYNJ1c.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
21g.32656971A=CA2386325187SYNJ1c.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=)
21g.32656971A>GCA2386325188SYNJ1c.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
21g.32656973C=CA2386325189SYNJ1c.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=)
21g.32656973C>TCA2386325190SYNJ1c.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
21g.32656974A=CA2386325191SYNJ1c.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=)
21g.32656974A>GCA2386325192SYNJ1c.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
21g.32656974A>TCA2654268472SYNJ1c.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
21g.32656977A>GCA2654268473SYNJ1c.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
21g.32656984A=CA2386325193SYNJ1c.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=)
21g.32656984A>GCA2817728791SYNJ1c.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)
21g.32656984A>TCA319425843SYNJ1c.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
21g.32656986A=CA2386325194SYNJ1c.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=)
21g.32656986A>GCA638052306SYNJ1c.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
21g.32656987C=CA2386325195SYNJ1c.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=)
21g.32656987C>TCA748730136SYNJ1c.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
21g.32656987_32656989delinsCTGCA2386325196SYNJ1c.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)
21g.32656988T>ACA2654268474SYNJ1c.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
21g.32656988_32656989delCA2386325197SYNJ1c.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
21g.32656989G>CCA2580098559SYNJ1c.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
21g.32656990A=CA2386325198SYNJ1c.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=)
21g.32656990A>CCA657877171SYNJ1c.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
21g.32656990A>TCA2386325199SYNJ1c.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
21g.32656991G>CCA2654268475SYNJ1c.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
21g.32656993C=CA2386325200SYNJ1c.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=)
21g.32656993C>GCA2654268476SYNJ1c.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
21g.32656993C>TCA10003634SYNJ1c.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
21g.32656997T>GCA10003635SYNJ1c.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
21g.32656997T=CA2386325201SYNJ1c.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=)
21g.32656998_32656999dupCA10003636SYNJ1c.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
21g.32657001A>CCA410074122SYNJ1c.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)
21g.32657001A>GCA410074124SYNJ1c.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)
21g.32657001A>TCA410074123SYNJ1c.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)
21g.32657002C>ACA410074125SYNJ1c.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
21g.32657002C>GCA410074126SYNJ1c.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)
21g.32657002C>TCA410074127SYNJ1c.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)
21g.32657003C>ACA410074128SYNJ1c.2696G>T (p.Arg899Met)
c.2564G>T (p.Arg855Met)
c.2579G>T (p.Arg860Met)
n.366G>T
c.2681G>T (p.Arg894Met)
21g.32657003C>GCA410074129SYNJ1c.2696G>C (p.Arg899Thr)
c.2564G>C (p.Arg855Thr)
c.2579G>C (p.Arg860Thr)
n.366G>C
c.2681G>C (p.Arg894Thr)
21g.32657003C>TCA410074130SYNJ1c.2696G>A (p.Arg899Lys)
c.2564G>A (p.Arg855Lys)
c.2579G>A (p.Arg860Lys)
n.366G>A
c.2681G>A (p.Arg894Lys)
21g.32657004T>ACA410074131SYNJ1c.2695A>T (p.Arg899Trp)
c.2563A>T (p.Arg855Trp)
c.2578A>T (p.Arg860Trp)
n.365A>T
c.2680A>T (p.Arg894Trp)
21g.32657004T>CCA410074132SYNJ1c.2695A>G (p.Arg899Gly)
c.2563A>G (p.Arg855Gly)
c.2578A>G (p.Arg860Gly)
n.365A>G
c.2680A>G (p.Arg894Gly)
21g.32657004T>GCA512332194SYNJ1c.2695A>C (p.Arg899=)
c.2563A>C (p.Arg855=)
c.2578A>C (p.Arg860=)
n.365A>C
c.2680A>C (p.Arg894=)
21g.32657005G>ACA512332196SYNJ1c.2694C>T (p.His898=)
c.2562C>T (p.His854=)
c.2577C>T (p.His859=)
n.364C>T
c.2679C>T (p.His893=)
21g.32657005G>CCA410074133SYNJ1c.2694C>G (p.His898Gln)
c.2562C>G (p.His854Gln)
c.2577C>G (p.His859Gln)
n.364C>G
c.2679C>G (p.His893Gln)
21g.32657005G>TCA410074134SYNJ1c.2694C>A (p.His898Gln)
c.2562C>A (p.His854Gln)
c.2577C>A (p.His859Gln)
n.364C>A
c.2679C>A (p.His893Gln)
21g.32657006T>ACA410074135SYNJ1c.2693A>T (p.His898Leu)
c.2561A>T (p.His854Leu)
c.2576A>T (p.His859Leu)
n.363A>T
c.2678A>T (p.His893Leu)
21g.32657006T>CCA410074136SYNJ1c.2693A>G (p.His898Arg)
c.2561A>G (p.His854Arg)
c.2576A>G (p.His859Arg)
n.363A>G
c.2678A>G (p.His893Arg)
21g.32657006T>GCA410074137SYNJ1c.2693A>C (p.His898Pro)
c.2561A>C (p.His854Pro)
c.2576A>C (p.His859Pro)
n.363A>C
c.2678A>C (p.His893Pro)
21g.32657007G>ACA410074138SYNJ1c.2692C>T (p.His898Tyr)
c.2560C>T (p.His854Tyr)
c.2575C>T (p.His859Tyr)
n.362C>T
c.2677C>T (p.His893Tyr)
21g.32657007G>CCA410074140SYNJ1c.2692C>G (p.His898Asp)
c.2560C>G (p.His854Asp)
c.2575C>G (p.His859Asp)
n.362C>G
c.2677C>G (p.His893Asp)
21g.32657007G>TCA410074139SYNJ1c.2692C>A (p.His898Asn)
c.2560C>A (p.His854Asn)
c.2575C>A (p.His859Asn)
n.362C>A
c.2677C>A (p.His893Asn)
21g.32657008G>ACA512332200SYNJ1c.2691C>T (p.Asp897=)
c.2559C>T (p.Asp853=)
c.2574C>T (p.Asp858=)
n.361C>T
c.2676C>T (p.Asp892=)
21g.32657008G>CCA410074141SYNJ1c.2691C>G (p.Asp897Glu)
c.2559C>G (p.Asp853Glu)
c.2574C>G (p.Asp858Glu)
n.361C>G
c.2676C>G (p.Asp892Glu)
21g.32657008G>TCA410074142SYNJ1c.2691C>A (p.Asp897Glu)
c.2559C>A (p.Asp853Glu)
c.2574C>A (p.Asp858Glu)
n.361C>A
c.2676C>A (p.Asp892Glu)
21g.32657009T>ACA410074143SYNJ1c.2690A>T (p.Asp897Val)
c.2558A>T (p.Asp853Val)
c.2573A>T (p.Asp858Val)
n.360A>T
c.2675A>T (p.Asp892Val)
21g.32657009T>CCA410074144SYNJ1c.2690A>G (p.Asp897Gly)
c.2558A>G (p.Asp853Gly)
c.2573A>G (p.Asp858Gly)
n.360A>G
c.2675A>G (p.Asp892Gly)
21g.32657009T>GCA410074145SYNJ1c.2690A>C (p.Asp897Ala)
c.2558A>C (p.Asp853Ala)
c.2573A>C (p.Asp858Ala)
n.360A>C
c.2675A>C (p.Asp892Ala)
21g.32657010C>ACA410074146SYNJ1c.2689G>T (p.Asp897Tyr)
c.2557G>T (p.Asp853Tyr)
c.2572G>T (p.Asp858Tyr)
n.359G>T
c.2674G>T (p.Asp892Tyr)
 gnomAD v4
21g.32657010C>GCA410074147SYNJ1c.2689G>C (p.Asp897His)
c.2557G>C (p.Asp853His)
c.2572G>C (p.Asp858His)
n.359G>C
c.2674G>C (p.Asp892His)
21g.32657010C>TCA410074148SYNJ1c.2689G>A (p.Asp897Asn)
c.2557G>A (p.Asp853Asn)
c.2572G>A (p.Asp858Asn)
n.359G>A
c.2674G>A (p.Asp892Asn)
 COSMIC COSMIC
21g.32657011A>CCA512332203SYNJ1c.2688T>G (p.Ser896=)
c.2556T>G (p.Ser852=)
c.2571T>G (p.Ser857=)
n.358T>G
c.2673T>G (p.Ser891=)
21g.32657011A>GCA512332205SYNJ1c.2688T>C (p.Ser896=)
c.2556T>C (p.Ser852=)
c.2571T>C (p.Ser857=)
n.358T>C
c.2673T>C (p.Ser891=)
 gnomAD v4
21g.32657011A>TCA512332204SYNJ1c.2688T>A (p.Ser896=)
c.2556T>A (p.Ser852=)
c.2571T>A (p.Ser857=)
n.358T>A
c.2673T>A (p.Ser891=)
21g.32657012G>ACA410074149SYNJ1c.2687C>T (p.Ser896Phe)
c.2555C>T (p.Ser852Phe)
c.2570C>T (p.Ser857Phe)
n.357C>T
c.2672C>T (p.Ser891Phe)
21g.32657012G>CCA410074150SYNJ1c.2687C>G (p.Ser896Cys)
c.2555C>G (p.Ser852Cys)
c.2570C>G (p.Ser857Cys)
n.357C>G
c.2672C>G (p.Ser891Cys)
21g.32657012G>TCA410074151SYNJ1c.2687C>A (p.Ser896Tyr)
c.2555C>A (p.Ser852Tyr)
c.2570C>A (p.Ser857Tyr)
n.357C>A
c.2672C>A (p.Ser891Tyr)
21g.32657013A>CCA410074153SYNJ1c.2686T>G (p.Ser896Ala)
c.2554T>G (p.Ser852Ala)
c.2569T>G (p.Ser857Ala)
n.356T>G
c.2671T>G (p.Ser891Ala)
21g.32657013A>GCA410074154SYNJ1c.2686T>C (p.Ser896Pro)
c.2554T>C (p.Ser852Pro)
c.2569T>C (p.Ser857Pro)
n.356T>C
c.2671T>C (p.Ser891Pro)
21g.32657013A>TCA410074152SYNJ1c.2686T>A (p.Ser896Thr)
c.2554T>A (p.Ser852Thr)
c.2569T>A (p.Ser857Thr)
n.356T>A
c.2671T>A (p.Ser891Thr)
21g.32657014A>CCA512332207SYNJ1c.2685T>G (p.Thr895=)
c.2553T>G (p.Thr851=)
c.2568T>G (p.Thr856=)
n.355T>G
c.2670T>G (p.Thr890=)
 gnomAD v4
21g.32657014A>GCA512332209SYNJ1c.2685T>C (p.Thr895=)
c.2553T>C (p.Thr851=)
c.2568T>C (p.Thr856=)
n.355T>C
c.2670T>C (p.Thr890=)
21g.32657014A>TCA512332208SYNJ1c.2685T>A (p.Thr895=)
c.2553T>A (p.Thr851=)
c.2568T>A (p.Thr856=)
n.355T>A
c.2670T>A (p.Thr890=)
21g.32657015G>ACA410074155SYNJ1c.2684C>T (p.Thr895Ile)
c.2552C>T (p.Thr851Ile)
c.2567C>T (p.Thr856Ile)
n.354C>T
c.2669C>T (p.Thr890Ile)
21g.32657015G>CCA410074156SYNJ1c.2684C>G (p.Thr895Ser)
c.2552C>G (p.Thr851Ser)
c.2567C>G (p.Thr856Ser)
n.354C>G
c.2669C>G (p.Thr890Ser)
 gnomAD v4
21g.32657015G=CA2386325202SYNJ1c.2684C= (p.Thr895=)
c.2552C= (p.Thr851=)
c.2567C= (p.Thr856=)
n.354C=
c.2669C= (p.Thr890=)
21g.32657015G>TCA410074157SYNJ1c.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
21g.32657016T>ACA410074158SYNJ1c.2683A>T (p.Thr895Ser)
c.2551A>T (p.Thr851Ser)
c.2566A>T (p.Thr856Ser)
n.353A>T
c.2668A>T (p.Thr890Ser)
21g.32657016T>CCA410074159SYNJ1c.2683A>G (p.Thr895Ala)
c.2551A>G (p.Thr851Ala)
c.2566A>G (p.Thr856Ala)
n.353A>G
c.2668A>G (p.Thr890Ala)
21g.32657016T>GCA410074160SYNJ1c.2683A>C (p.Thr895Pro)
c.2551A>C (p.Thr851Pro)
c.2566A>C (p.Thr856Pro)
n.353A>C
c.2668A>C (p.Thr890Pro)
 gnomAD v4
21g.32657017C>ACA410074163SYNJ1c.2682G>T (p.Lys894Asn)
c.2550G>T (p.Lys850Asn)
c.2565G>T (p.Lys855Asn)
n.352G>T
c.2667G>T (p.Lys889Asn)
21g.32657017C>GCA410074161SYNJ1c.2682G>C (p.Lys894Asn)
c.2550G>C (p.Lys850Asn)
c.2565G>C (p.Lys855Asn)
n.352G>C
c.2667G>C (p.Lys889Asn)
21g.32657017C>TCA512332210SYNJ1c.2682G>A (p.Lys894=)
c.2550G>A (p.Lys850=)
c.2565G>A (p.Lys855=)
n.352G>A
c.2667G>A (p.Lys889=)
21g.32657018T>ACA410074167SYNJ1c.2681A>T (p.Lys894Met)
c.2549A>T (p.Lys850Met)
c.2564A>T (p.Lys855Met)
n.351A>T
c.2666A>T (p.Lys889Met)
21g.32657018T>CCA410074170SYNJ1c.2681A>G (p.Lys894Arg)
c.2549A>G (p.Lys850Arg)
c.2564A>G (p.Lys855Arg)
n.351A>G
c.2666A>G (p.Lys889Arg)
21g.32657018T>GCA410074172SYNJ1c.2681A>C (p.Lys894Thr)
c.2549A>C (p.Lys850Thr)
c.2564A>C (p.Lys855Thr)
n.351A>C
c.2666A>C (p.Lys889Thr)
21g.32657019T>ACA410074175SYNJ1c.2680A>T (p.Lys894Ter)
c.2548A>T (p.Lys850Ter)
c.2563A>T (p.Lys855Ter)
n.350A>T
c.2665A>T (p.Lys889Ter)
21g.32657019T>CCA410074184SYNJ1c.2680A>G (p.Lys894Glu)
c.2548A>G (p.Lys850Glu)
c.2563A>G (p.Lys855Glu)
n.350A>G
c.2665A>G (p.Lys889Glu)
21g.32657019T>GCA410074187SYNJ1c.2680A>C (p.Lys894Gln)
c.2548A>C (p.Lys850Gln)
c.2563A>C (p.Lys855Gln)
n.350A>C
c.2665A>C (p.Lys889Gln)
21g.32657020C>ACA512332213SYNJ1c.2679G>T (p.Leu893=)
c.2547G>T (p.Leu849=)
c.2562G>T (p.Leu854=)
n.349G>T
c.2664G>T (p.Leu888=)
21g.32657020C>GCA512332211SYNJ1c.2679G>C (p.Leu893=)
c.2547G>C (p.Leu849=)
c.2562G>C (p.Leu854=)
n.349G>C
c.2664G>C (p.Leu888=)
21g.32657020C>TCA512332212SYNJ1c.2679G>A (p.Leu893=)
c.2547G>A (p.Leu849=)
c.2562G>A (p.Leu854=)
n.349G>A
c.2664G>A (p.Leu888=)
21g.32657021A>CCA410074194SYNJ1c.2678T>G (p.Leu893Arg)
c.2546T>G (p.Leu849Arg)
c.2561T>G (p.Leu854Arg)
n.348T>G
c.2663T>G (p.Leu888Arg)
21g.32657021A>GCA410074191SYNJ1c.2678T>C (p.Leu893Pro)
c.2546T>C (p.Leu849Pro)
c.2561T>C (p.Leu854Pro)
n.348T>C
c.2663T>C (p.Leu888Pro)
21g.32657021A>TCA410074193SYNJ1c.2678T>A (p.Leu893Gln)
c.2546T>A (p.Leu849Gln)
c.2561T>A (p.Leu854Gln)
n.348T>A
c.2663T>A (p.Leu888Gln)
21g.32657022G>ACA512332214SYNJ1c.2677C>T (p.Leu893=)
c.2545C>T (p.Leu849=)
c.2560C>T (p.Leu854=)
n.347C>T
c.2662C>T (p.Leu888=)
21g.32657022G>CCA410074197SYNJ1c.2677C>G (p.Leu893Val)
c.2545C>G (p.Leu849Val)
c.2560C>G (p.Leu854Val)
n.347C>G
c.2662C>G (p.Leu888Val)
21g.32657022G>TCA410074199SYNJ1c.2677C>A (p.Leu893Met)
c.2545C>A (p.Leu849Met)
c.2560C>A (p.Leu854Met)
n.347C>A
c.2662C>A (p.Leu888Met)
21g.32657023C>ACA410074200SYNJ1c.2676G>T (p.Glu892Asp)
c.2544G>T (p.Glu848Asp)
c.2559G>T (p.Glu853Asp)
n.346G>T
c.2661G>T (p.Glu887Asp)
21g.32657023C>GCA410074202SYNJ1c.2676G>C (p.Glu892Asp)
c.2544G>C (p.Glu848Asp)
c.2559G>C (p.Glu853Asp)
n.346G>C
c.2661G>C (p.Glu887Asp)
21g.32657023C>TCA512332215SYNJ1c.2676G>A (p.Glu892=)
c.2544G>A (p.Glu848=)
c.2559G>A (p.Glu853=)
n.346G>A
c.2661G>A (p.Glu887=)
21g.32657024T>ACA410074206SYNJ1c.2675A>T (p.Glu892Val)
c.2543A>T (p.Glu848Val)
c.2558A>T (p.Glu853Val)
n.345A>T
c.2660A>T (p.Glu887Val)
21g.32657024T>CCA410074208SYNJ1c.2675A>G (p.Glu892Gly)
c.2543A>G (p.Glu848Gly)
c.2558A>G (p.Glu853Gly)
n.345A>G
c.2660A>G (p.Glu887Gly)
21g.32657024T>GCA410074210SYNJ1c.2675A>C (p.Glu892Ala)
c.2543A>C (p.Glu848Ala)
c.2558A>C (p.Glu853Ala)
n.345A>C
c.2660A>C (p.Glu887Ala)
21g.32657025C>ACA410074213SYNJ1c.2674G>T (p.Glu892Ter)
c.2542G>T (p.Glu848Ter)
c.2557G>T (p.Glu853Ter)
n.344G>T
c.2659G>T (p.Glu887Ter)
21g.32657025C>GCA410074215SYNJ1c.2674G>C (p.Glu892Gln)
c.2542G>C (p.Glu848Gln)
c.2557G>C (p.Glu853Gln)
n.344G>C
c.2659G>C (p.Glu887Gln)
21g.32657025C>TCA410074218SYNJ1c.2674G>A (p.Glu892Lys)
c.2542G>A (p.Glu848Lys)
c.2557G>A (p.Glu853Lys)
n.344G>A
c.2659G>A (p.Glu887Lys)
21g.32657026A>CCA512332221SYNJ1c.2673T>G (p.Ala891=)
c.2541T>G (p.Ala847=)
c.2556T>G (p.Ala852=)
n.343T>G
c.2658T>G (p.Ala886=)
21g.32657026A>GCA512332219SYNJ1c.2673T>C (p.Ala891=)
c.2541T>C (p.Ala847=)
c.2556T>C (p.Ala852=)
n.343T>C
c.2658T>C (p.Ala886=)
21g.32657026A>TCA512332220SYNJ1c.2673T>A (p.Ala891=)
c.2541T>A (p.Ala847=)
c.2556T>A (p.Ala852=)
n.343T>A
c.2658T>A (p.Ala886=)
21g.32657027G>ACA410074221SYNJ1c.2672C>T (p.Ala891Val)
c.2540C>T (p.Ala847Val)
c.2555C>T (p.Ala852Val)
n.342C>T
c.2657C>T (p.Ala886Val)
21g.32657027G>CCA410074223SYNJ1c.2672C>G (p.Ala891Gly)
c.2540C>G (p.Ala847Gly)
c.2555C>G (p.Ala852Gly)
n.342C>G
c.2657C>G (p.Ala886Gly)
21g.32657027G>TCA410074224SYNJ1c.2672C>A (p.Ala891Asp)
c.2540C>A (p.Ala847Asp)
c.2555C>A (p.Ala852Asp)
n.342C>A
c.2657C>A (p.Ala886Asp)
21g.32657028C>ACA410074227SYNJ1c.2671G>T (p.Ala891Ser)
c.2539G>T (p.Ala847Ser)
c.2554G>T (p.Ala852Ser)
n.341G>T
c.2656G>T (p.Ala886Ser)
21g.32657028C>GCA410074231SYNJ1c.2671G>C (p.Ala891Pro)
c.2539G>C (p.Ala847Pro)
c.2554G>C (p.Ala852Pro)
n.341G>C
c.2656G>C (p.Ala886Pro)
21g.32657028C>TCA410074229SYNJ1c.2671G>A (p.Ala891Thr)
c.2539G>A (p.Ala847Thr)
c.2554G>A (p.Ala852Thr)
n.341G>A
c.2656G>A (p.Ala886Thr)
 ClinVar
21g.32657029T>ACA410074233SYNJ1c.2670A>T (p.Arg890Ser)
c.2538A>T (p.Arg846Ser)
c.2553A>T (p.Arg851Ser)
n.340A>T
c.2655A>T (p.Arg885Ser)
21g.32657029T>CCA512332223SYNJ1c.2670A>G (p.Arg890=)
c.2538A>G (p.Arg846=)
c.2553A>G (p.Arg851=)
n.340A>G
c.2655A>G (p.Arg885=)
21g.32657029T>GCA410074234SYNJ1c.2670A>C (p.Arg890Ser)
c.2538A>C (p.Arg846Ser)
c.2553A>C (p.Arg851Ser)
n.340A>C
c.2655A>C (p.Arg885Ser)
21g.32657030C>ACA410074237SYNJ1c.2669G>T (p.Arg890Ile)
c.2537G>T (p.Arg846Ile)
c.2552G>T (p.Arg851Ile)
n.339G>T
c.2654G>T (p.Arg885Ile)
21g.32657030C>GCA410074239SYNJ1c.2669G>C (p.Arg890Thr)
c.2537G>C (p.Arg846Thr)
c.2552G>C (p.Arg851Thr)
n.339G>C
c.2654G>C (p.Arg885Thr)
21g.32657030C>TCA410074241SYNJ1c.2669G>A (p.Arg890Lys)
c.2537G>A (p.Arg846Lys)
c.2552G>A (p.Arg851Lys)
n.339G>A
c.2654G>A (p.Arg885Lys)
21g.32657031T>ACA410074243SYNJ1c.2668A>T (p.Arg890Ter)
c.2536A>T (p.Arg846Ter)
c.2551A>T (p.Arg851Ter)
n.338A>T
c.2653A>T (p.Arg885Ter)
21g.32657031T>CCA410074246SYNJ1c.2668A>G (p.Arg890Gly)
c.2536A>G (p.Arg846Gly)
c.2551A>G (p.Arg851Gly)
n.338A>G
c.2653A>G (p.Arg885Gly)
21g.32657031T>GCA512332224SYNJ1c.2668A>C (p.Arg890=)
c.2536A>C (p.Arg846=)
c.2551A>C (p.Arg851=)
n.338A>C
c.2653A>C (p.Arg885=)
21g.32657032T>ACA512332225SYNJ1c.2667A>T (p.Gly889=)
c.2535A>T (p.Gly845=)
c.2550A>T (p.Gly850=)
n.337A>T
c.2652A>T (p.Gly884=)
21g.32657032T>CCA512332226SYNJ1c.2667A>G (p.Gly889=)
c.2535A>G (p.Gly845=)
c.2550A>G (p.Gly850=)
n.337A>G
c.2652A>G (p.Gly884=)
21g.32657032T>GCA512332227SYNJ1c.2667A>C (p.Gly889=)
c.2535A>C (p.Gly845=)
c.2550A>C (p.Gly850=)
n.337A>C
c.2652A>C (p.Gly884=)
21g.32657033C>ACA410074248SYNJ1c.2666G>T (p.Gly889Val)
c.2534G>T (p.Gly845Val)
c.2549G>T (p.Gly850Val)
n.336G>T
c.2651G>T (p.Gly884Val)
21g.32657033C>GCA410074249SYNJ1c.2666G>C (p.Gly889Ala)
c.2534G>C (p.Gly845Ala)
c.2549G>C (p.Gly850Ala)
n.336G>C
c.2651G>C (p.Gly884Ala)
21g.32657033C>TCA410074251SYNJ1c.2666G>A (p.Gly889Glu)
c.2534G>A (p.Gly845Glu)
c.2549G>A (p.Gly850Glu)
n.336G>A
c.2651G>A (p.Gly884Glu)
21g.32657034C>ACA410074254SYNJ1c.2665G>T (p.Gly889Ter)
c.2533G>T (p.Gly845Ter)
c.2548G>T (p.Gly850Ter)
n.335G>T
c.2650G>T (p.Gly884Ter)
21g.32657034C>GCA410074256SYNJ1c.2665G>C (p.Gly889Arg)
c.2533G>C (p.Gly845Arg)
c.2548G>C (p.Gly850Arg)
n.335G>C
c.2650G>C (p.Gly884Arg)
21g.32657034C>TCA410074258SYNJ1c.2665G>A (p.Gly889Arg)
c.2533G>A (p.Gly845Arg)
c.2548G>A (p.Gly850Arg)
n.335G>A
c.2650G>A (p.Gly884Arg)
21g.32657035A=CA2386325203SYNJ1c.2664T= (p.Tyr888=)
c.2532T= (p.Tyr844=)
c.2547T= (p.Tyr849=)
n.334T=
c.2649T= (p.Tyr883=)
21g.32657035A>CCA410074265SYNJ1c.2664T>G (p.Tyr888Ter)
c.2532T>G (p.Tyr844Ter)
c.2547T>G (p.Tyr849Ter)
n.334T>G
c.2649T>G (p.Tyr883Ter)
21g.32657035A>GCA319425845SYNJ1c.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
21g.32657035A>TCA410074262SYNJ1c.2664T>A (p.Tyr888Ter)
c.2532T>A (p.Tyr844Ter)
c.2547T>A (p.Tyr849Ter)
n.334T>A
c.2649T>A (p.Tyr883Ter)
21g.32657036T>ACA410074268SYNJ1c.2663A>T (p.Tyr888Phe)
c.2531A>T (p.Tyr844Phe)
c.2546A>T (p.Tyr849Phe)
n.333A>T
c.2648A>T (p.Tyr883Phe)
21g.32657036T>CCA16609236SYNJ1c.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
21g.32657036T>GCA410074270SYNJ1c.2663A>C (p.Tyr888Ser)
c.2531A>C (p.Tyr844Ser)
c.2546A>C (p.Tyr849Ser)
n.333A>C
c.2648A>C (p.Tyr883Ser)
21g.32657036T=CA2386325204SYNJ1c.2663A= (p.Tyr888=)
c.2531A= (p.Tyr844=)
c.2546A= (p.Tyr849=)
n.333A=
c.2648A= (p.Tyr883=)
21g.32657037A=CA2386325205SYNJ1c.2662T= (p.Tyr888=)
c.2530T= (p.Tyr844=)
c.2545T= (p.Tyr849=)
n.332T=
c.2647T= (p.Tyr883=)
21g.32657037A>CCA410074275SYNJ1c.2662T>G (p.Tyr888Asp)
c.2530T>G (p.Tyr844Asp)
c.2545T>G (p.Tyr849Asp)
n.332T>G
c.2647T>G (p.Tyr883Asp)
21g.32657037A>GCA319425847SYNJ1c.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
21g.32657037A>TCA410074279SYNJ1c.2662T>A (p.Tyr888Asn)
c.2530T>A (p.Tyr844Asn)
c.2545T>A (p.Tyr849Asn)
n.332T>A
c.2647T>A (p.Tyr883Asn)
21g.32657038G>ACA10003637SYNJ1c.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
21g.32657038G>CCA410074283SYNJ1c.2661C>G (p.His887Gln)
c.2529C>G (p.His843Gln)
c.2544C>G (p.His848Gln)
n.331C>G
c.2646C>G (p.His882Gln)
21g.32657038G=CA2386325206SYNJ1c.2661C= (p.His887=)
c.2529C= (p.His843=)
c.2544C= (p.His848=)
n.331C=
c.2646C= (p.His882=)
21g.32657038G>TCA410074284SYNJ1c.2661C>A (p.His887Gln)
c.2529C>A (p.His843Gln)
c.2544C>A (p.His848Gln)
n.331C>A
c.2646C>A (p.His882Gln)
21g.32657039T>ACA410074288SYNJ1c.2660A>T (p.His887Leu)
c.2528A>T (p.His843Leu)
c.2543A>T (p.His848Leu)
n.330A>T
c.2645A>T (p.His882Leu)
21g.32657039T>CCA410074290SYNJ1c.2660A>G (p.His887Arg)
c.2528A>G (p.His843Arg)
c.2543A>G (p.His848Arg)
n.330A>G
c.2645A>G (p.His882Arg)
 gnomAD v4
21g.32657039T>GCA10003638SYNJ1c.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
21g.32657039T=CA2386325207SYNJ1c.2660A= (p.His887=)
c.2528A= (p.His843=)
c.2543A= (p.His848=)
n.330A=
c.2645A= (p.His882=)

Number of alleles fetched