SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.134661678A>C | CA458161991 | BPGM | c.171A>C (p.Thr57=) n.6821-543T>G | |
| 7 | g.134661678A>G | CA458161992 | BPGM | c.171A>G (p.Thr57=) n.6821-543T>C | |
| 7 | g.134661678A>T | CA458161993 | BPGM | c.171A>T (p.Thr57=) n.6821-543T>A | |
| 7 | g.134661679T>A | CA369472170 | BPGM | c.172T>A (p.Ser58Thr) n.6821-544A>T | |
| 7 | g.134661679T>C | CA369472171 | BPGM | c.172T>C (p.Ser58Pro) n.6821-544A>G | |
| 7 | g.134661679T>G | CA369472172 | BPGM | c.172T>G (p.Ser58Ala) n.6821-544A>C | |
| 7 | g.134661680C>A | CA369472173 | BPGM | c.173C>A (p.Ser58Tyr) n.6821-545G>T | |
| 7 | g.134661680C>G | CA369472174 | BPGM | c.173C>G (p.Ser58Cys) n.6821-545G>C | |
| 7 | g.134661680C>T | CA369472175 | BPGM | c.173C>T (p.Ser58Phe) n.6821-545G>A | |
| 7 | g.134661681T>A | CA458161994 | BPGM | c.174T>A (p.Ser58=) n.6821-546A>T | |
| 7 | g.134661681T>C | CA458161995 | BPGM | c.174T>C (p.Ser58=) n.6821-546A>G | |
| 7 | g.134661681T>G | CA458161996 | BPGM | c.174T>G (p.Ser58=) n.6821-546A>C | |
| 7 | g.134661682G>A | CA369472176 | BPGM | c.175G>A (p.Val59Ile) n.6821-547C>T | gnomAD v4 |
| 7 | g.134661682G>C | CA369472177 | BPGM | c.175G>C (p.Val59Leu) n.6821-547C>G | |
| 7 | g.134661682G>T | CA369472178 | BPGM | c.175G>T (p.Val59Phe) n.6821-547C>A | |
| 7 | g.134661683T>A | CA369472181 | BPGM | c.176T>A (p.Val59Asp) n.6821-548A>T | |
| 7 | g.134661683T>C | CA369472180 | BPGM | c.176T>C (p.Val59Ala) n.6821-548A>G | |
| 7 | g.134661683T>G | CA369472179 | BPGM | c.176T>G (p.Val59Gly) n.6821-548A>C | |
| 7 | g.134661684C>A | CA458161997 | BPGM | c.177C>A (p.Val59=) n.6821-549G>T | |
| 7 | g.134661684C>G | CA458161998 | BPGM | c.177C>G (p.Val59=) n.6821-549G>C | gnomAD v4 |
| 7 | g.134661684C>T | CA458161999 | BPGM | c.177C>T (p.Val59=) n.6821-549G>A | gnomAD v4 |
| 7 | g.134661685C>A | CA369472182 | BPGM | c.178C>A (p.Leu60Ile) n.6821-550G>T | |
| 7 | g.134661685C= | CA1745206702 | BPGM | c.178C= (p.Leu60=) n.6821-550G= | |
| 7 | g.134661685C>G | CA369472184 | BPGM | c.178C>G (p.Leu60Val) n.6821-550G>C | |
| 7 | g.134661685C>T | CA369472183 | BPGM | c.178C>T (p.Leu60Phe) n.6821-550G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.134661686T>A | CA369472185 | BPGM | c.179T>A (p.Leu60His) n.6821-551A>T | |
| 7 | g.134661686T>C | CA369472187 | BPGM | c.179T>C (p.Leu60Pro) n.6821-551A>G | |
| 7 | g.134661686T>G | CA369472186 | BPGM | c.179T>G (p.Leu60Arg) n.6821-551A>C | |
| 7 | g.134661687T>A | CA458162000 | BPGM | c.180T>A (p.Leu60=) n.6821-552A>T | |
| 7 | g.134661687T>C | CA458162001 | BPGM | c.180T>C (p.Leu60=) n.6821-552A>G | |
| 7 | g.134661687T>G | CA458162002 | BPGM | c.180T>G (p.Leu60=) n.6821-552A>C | |
| 7 | g.134661688A>C | CA369472188 | BPGM | c.181A>C (p.Asn61His) n.6821-553T>G | |
| 7 | g.134661688A>G | CA369472189 | BPGM | c.181A>G (p.Asn61Asp) n.6821-553T>C | |
| 7 | g.134661688A>T | CA369472190 | BPGM | c.181A>T (p.Asn61Tyr) n.6821-553T>A | |
| 7 | g.134661689A= | CA1745206703 | BPGM | c.182A= (p.Asn61=) n.6821-554T= | |
| 7 | g.134661689A>C | CA4494657 | BPGM | c.182A>C (p.Asn61Thr) n.6821-554T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661689A>G | CA4494658 | BPGM | c.182A>G (p.Asn61Ser) n.6821-554T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661689A>T | CA369472191 | BPGM | c.182A>T (p.Asn61Ile) n.6821-554T>A | |
| 7 | g.134661690T>A | CA369472192 | BPGM | c.183T>A (p.Asn61Lys) n.6821-555A>T | |
| 7 | g.134661690T>C | CA458162003 | BPGM | c.183T>C (p.Asn61=) n.6821-555A>G | |
| 7 | g.134661690T>G | CA369472193 | BPGM | c.183T>G (p.Asn61Lys) n.6821-555A>C | |
| 7 | g.134661691C>A | CA458162004 | BPGM | c.184C>A (p.Arg62=) n.6821-556G>T | gnomAD v4 |
| 7 | g.134661691C= | CA1745206704 | BPGM | c.184C= (p.Arg62=) n.6821-556G= | |
| 7 | g.134661691C>G | CA369472194 | BPGM | c.184C>G (p.Arg62Gly) n.6821-556G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.134661691C>T | CA369472195 | BPGM | c.184C>T (p.Arg62Trp) n.6821-556G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.134661692G>A | CA4494659 | BPGM | c.185G>A (p.Arg62Gln) n.6821-557C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661692G>C | CA369472196 | BPGM | c.185G>C (p.Arg62Pro) n.6821-557C>G | |
| 7 | g.134661692G= | CA1745206705 | BPGM | c.185G= (p.Arg62=) n.6821-557C= | |
| 7 | g.134661692G>T | CA369472197 | BPGM | c.185G>T (p.Arg62Leu) n.6821-557C>A | |
| 7 | g.134661693G>A | CA4494660 | BPGM | c.186G>A (p.Arg62=) n.6821-558C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661693G>C | CA458162006 | BPGM | c.186G>C (p.Arg62=) n.6821-558C>G | |
| 7 | g.134661693G= | CA1745206706 | BPGM | c.186G= (p.Arg62=) n.6821-558C= | |
| 7 | g.134661693G>T | CA458162005 | BPGM | c.186G>T (p.Arg62=) n.6821-558C>A | |
| 7 | g.134661694T>A | CA369472198 | BPGM | c.187T>A (p.Ser63Thr) n.6821-559A>T | |
| 7 | g.134661694T>C | CA369472199 | BPGM | c.187T>C (p.Ser63Pro) n.6821-559A>G | gnomAD v4 |
| 7 | g.134661694T>G | CA369472200 | BPGM | c.187T>G (p.Ser63Ala) n.6821-559A>C | |
| 7 | g.134661695C>A | CA369472201 | BPGM | c.188C>A (p.Ser63Tyr) n.6821-560G>T | |
| 7 | g.134661695C= | CA1745206707 | BPGM | c.188C= (p.Ser63=) n.6821-560G= | |
| 7 | g.134661695C>G | CA369472202 | BPGM | c.188C>G (p.Ser63Cys) n.6821-560G>C | gnomAD v4 |
| 7 | g.134661695C>T | CA167497227 | BPGM | c.188C>T (p.Ser63Phe) n.6821-560G>A | dbSNP gnomAD v4 COSMIC |
| 7 | g.134661696C>A | CA458162007 | BPGM | c.189C>A (p.Ser63=) n.6821-561G>T | |
| 7 | g.134661696C= | CA1745206708 | BPGM | c.189C= (p.Ser63=) n.6821-561G= | |
| 7 | g.134661696C>G | CA458162009 | BPGM | c.189C>G (p.Ser63=) n.6821-561G>C | |
| 7 | g.134661696C>T | CA458162008 | BPGM | c.189C>T (p.Ser63=) n.6821-561G>A | dbSNP |
| 7 | g.134661697A= | CA1745206709 | BPGM | c.190A= (p.Ile64=) n.6821-562T= | |
| 7 | g.134661697A>C | CA369472203 | BPGM | c.190A>C (p.Ile64Leu) n.6821-562T>G | |
| 7 | g.134661697A>G | CA4494661 | BPGM | c.190A>G (p.Ile64Val) n.6821-562T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.134661697A>T | CA369472204 | BPGM | c.190A>T (p.Ile64Phe) n.6821-562T>A | |
| 7 | g.134661698T>A | CA369472205 | BPGM | c.191T>A (p.Ile64Asn) n.6821-563A>T | |
| 7 | g.134661698T>C | CA369472206 | BPGM | c.191T>C (p.Ile64Thr) n.6821-563A>G | dbSNP |
| 7 | g.134661698T>G | CA369472207 | BPGM | c.191T>G (p.Ile64Ser) n.6821-563A>C | |
| 7 | g.134661699T>A | CA458162010 | BPGM | c.192T>A (p.Ile64=) n.6821-564A>T | |
| 7 | g.134661699T>C | CA458162011 | BPGM | c.192T>C (p.Ile64=) n.6821-564A>G | |
| 7 | g.134661699T>G | CA369472208 | BPGM | c.192T>G (p.Ile64Met) n.6821-564A>C | |
| 7 | g.134661700C>A | CA369472211 | BPGM | c.193C>A (p.His65Asn) n.6821-565G>T | |
| 7 | g.134661700C= | CA1745206710 | BPGM | c.193C= (p.His65=) n.6821-565G= | |
| 7 | g.134661700C>G | CA369472209 | BPGM | c.193C>G (p.His65Asp) n.6821-565G>C | |
| 7 | g.134661700C>T | CA369472210 | BPGM | c.193C>T (p.His65Tyr) n.6821-565G>A | dbSNP |
| 7 | g.134661701A>C | CA369472212 | BPGM | c.194A>C (p.His65Pro) n.6821-566T>G | |
| 7 | g.134661701A>G | CA369472213 | BPGM | c.194A>G (p.His65Arg) n.6821-566T>C | |
| 7 | g.134661701A>T | CA369472214 | BPGM | c.194A>T (p.His65Leu) n.6821-566T>A | |
| 7 | g.134661702C>A | CA369472215 | BPGM | c.195C>A (p.His65Gln) n.6821-567G>T | |
| 7 | g.134661702C= | CA1745206711 | BPGM | c.195C= (p.His65=) n.6821-567G= | |
| 7 | g.134661702C>G | CA369472216 | BPGM | c.195C>G (p.His65Gln) n.6821-567G>C | |
| 7 | g.134661702C>T | CA458162012 | BPGM | c.195C>T (p.His65=) n.6821-567G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.134661703A= | CA1745206712 | BPGM | c.196A= (p.Thr66=) n.6821-568T= | |
| 7 | g.134661703A>C | CA369472217 | BPGM | c.196A>C (p.Thr66Pro) n.6821-568T>G | |
| 7 | g.134661703A>G | CA369472218 | BPGM | c.196A>G (p.Thr66Ala) n.6821-568T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.134661703A>T | CA369472219 | BPGM | c.196A>T (p.Thr66Ser) n.6821-568T>A | |
| 7 | g.134661704C>A | CA369472220 | BPGM | c.197C>A (p.Thr66Lys) n.6821-569G>T | |
| 7 | g.134661704C= | CA1745206713 | BPGM | c.197C= (p.Thr66=) n.6821-569G= | |
| 7 | g.134661704C>G | CA369472221 | BPGM | c.197C>G (p.Thr66Arg) n.6821-569G>C | |
| 7 | g.134661704C>T | CA369472222 | BPGM | c.197C>T (p.Thr66Ile) n.6821-569G>A | dbSNP gnomAD v4 |
| 7 | g.134661705A>C | CA458162013 | BPGM | c.198A>C (p.Thr66=) n.6821-570T>G | gnomAD v4 |
| 7 | g.134661705A>G | CA458162014 | BPGM | c.198A>G (p.Thr66=) n.6821-570T>C | |
| 7 | g.134661705A>T | CA458162015 | BPGM | c.198A>T (p.Thr66=) n.6821-570T>A | |
| 7 | g.134661706G>A | CA369472225 | BPGM | c.199G>A (p.Ala67Thr) n.6821-571C>T | |
| 7 | g.134661706G>C | CA369472223 | BPGM | c.199G>C (p.Ala67Pro) n.6821-571C>G | |
| 7 | g.134661706G>T | CA369472224 | BPGM | c.199G>T (p.Ala67Ser) n.6821-571C>A | |
| 7 | g.134661707C>A | CA369472226 | BPGM | c.200C>A (p.Ala67Asp) n.6821-572G>T | |
| 7 | g.134661707C= | CA1745206714 | BPGM | c.200C= (p.Ala67=) n.6821-572G= | |
| 7 | g.134661707C>G | CA4494662 | BPGM | c.200C>G (p.Ala67Gly) n.6821-572G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.134661707C>T | CA369472227 | BPGM | c.200C>T (p.Ala67Val) n.6821-572G>A | |
| 7 | g.134661708C>A | CA458162016 | BPGM | c.201C>A (p.Ala67=) n.6821-573G>T | |
| 7 | g.134661708C>G | CA458162017 | BPGM | c.201C>G (p.Ala67=) n.6821-573G>C | |
| 7 | g.134661708C>T | CA458162018 | BPGM | c.201C>T (p.Ala67=) n.6821-573G>A | gnomAD v4 |
| 7 | g.134661709T>A | CA369472228 | BPGM | c.202T>A (p.Trp68Arg) n.6821-574A>T | |
| 7 | g.134661709T>C | CA369472229 | BPGM | c.202T>C (p.Trp68Arg) n.6821-574A>G | |
| 7 | g.134661709T>G | CA369472230 | BPGM | c.202T>G (p.Trp68Gly) n.6821-574A>C | |
| 7 | g.134661710G>A | CA369472231 | BPGM | c.203G>A (p.Trp68Ter) n.6821-575C>T | |
| 7 | g.134661710G>C | CA369472232 | BPGM | c.203G>C (p.Trp68Ser) n.6821-575C>G | |
| 7 | g.134661710G>T | CA369472233 | BPGM | c.203G>T (p.Trp68Leu) n.6821-575C>A | |
| 7 | g.134661711G>A | CA369472234 | BPGM | c.204G>A (p.Trp68Ter) n.6821-576C>T | |
| 7 | g.134661711G>C | CA369472235 | BPGM | c.204G>C (p.Trp68Cys) n.6821-576C>G | |
| 7 | g.134661711G>T | CA369472236 | BPGM | c.204G>T (p.Trp68Cys) n.6821-576C>A | |
| 7 | g.134661712C>A | CA369472237 | BPGM | c.205C>A (p.Leu69Met) n.6821-577G>T | |
| 7 | g.134661712C= | CA1745206715 | BPGM | c.205C= (p.Leu69=) n.6821-577G= | |
| 7 | g.134661712C>G | CA369472238 | BPGM | c.205C>G (p.Leu69Val) n.6821-577G>C | |
| 7 | g.134661712C>T | CA458162019 | BPGM | c.205C>T (p.Leu69=) n.6821-577G>A | dbSNP |
| 7 | g.134661713T>A | CA369472239 | BPGM | c.206T>A (p.Leu69Gln) n.6821-578A>T | |
| 7 | g.134661713T>C | CA369472241 | BPGM | c.206T>C (p.Leu69Pro) n.6821-578A>G | |
| 7 | g.134661713T>G | CA369472240 | BPGM | c.206T>G (p.Leu69Arg) n.6821-578A>C | |
| 7 | g.134661714G>A | CA458162020 | BPGM | c.207G>A (p.Leu69=) n.6821-579C>T | |
| 7 | g.134661714G>C | CA458162021 | BPGM | c.207G>C (p.Leu69=) n.6821-579C>G | |
| 7 | g.134661714G>T | CA458162022 | BPGM | c.207G>T (p.Leu69=) n.6821-579C>A | |
| 7 | g.134661715A>C | CA369472242 | BPGM | c.208A>C (p.Ile70Leu) n.6821-580T>G | |
| 7 | g.134661715A>G | CA369472243 | BPGM | c.208A>G (p.Ile70Val) n.6821-580T>C | |
| 7 | g.134661715A>T | CA369472244 | BPGM | c.208A>T (p.Ile70Phe) n.6821-580T>A | |
| 7 | g.134661716T>A | CA369472245 | BPGM | c.209T>A (p.Ile70Asn) n.6821-581A>T | |
| 7 | g.134661716T>C | CA369472246 | BPGM | c.209T>C (p.Ile70Thr) n.6821-581A>G | |
| 7 | g.134661716T>G | CA369472247 | BPGM | c.209T>G (p.Ile70Ser) n.6821-581A>C | |
| 7 | g.134661717C>A | CA458162023 | BPGM | c.210C>A (p.Ile70=) n.6821-582G>T | |
| 7 | g.134661717C>G | CA369472248 | BPGM | c.210C>G (p.Ile70Met) n.6821-582G>C | |
| 7 | g.134661717C>T | CA458162024 | BPGM | c.210C>T (p.Ile70=) n.6821-582G>A | gnomAD v4 |
| 7 | g.134661718C>A | CA369472249 | BPGM | c.211C>A (p.Leu71Met) n.6821-583G>T | |
| 7 | g.134661718C>G | CA369472250 | BPGM | c.211C>G (p.Leu71Val) n.6821-583G>C | gnomAD v4 |
| 7 | g.134661718C>T | CA458162025 | BPGM | c.211C>T (p.Leu71=) n.6821-583G>A | |
| 7 | g.134661719T>A | CA369472251 | BPGM | c.212T>A (p.Leu71Gln) n.6821-584A>T | |
| 7 | g.134661719T>C | CA369472252 | BPGM | c.212T>C (p.Leu71Pro) n.6821-584A>G | gnomAD v4 |
| 7 | g.134661719T>G | CA369472253 | BPGM | c.212T>G (p.Leu71Arg) n.6821-584A>C | |
| 7 | g.134661720G>A | CA458162026 | BPGM | c.213G>A (p.Leu71=) n.6821-585C>T | gnomAD v4 |
| 7 | g.134661720G>C | CA458162027 | BPGM | c.213G>C (p.Leu71=) n.6821-585C>G | |
| 7 | g.134661720G>T | CA458162028 | BPGM | c.213G>T (p.Leu71=) n.6821-585C>A | |
| 7 | g.134661721G>A | CA369472256 | BPGM | c.214G>A (p.Glu72Lys) n.6821-586C>T | |
| 7 | g.134661721G>C | CA369472254 | BPGM | c.214G>C (p.Glu72Gln) n.6821-586C>G | |
| 7 | g.134661721G>T | CA369472255 | BPGM | c.214G>T (p.Glu72Ter) n.6821-586C>A | |
| 7 | g.134661722A>C | CA369472257 | BPGM | c.215A>C (p.Glu72Ala) n.6821-587T>G | |
| 7 | g.134661722A>G | CA369472258 | BPGM | c.215A>G (p.Glu72Gly) n.6821-587T>C | |
| 7 | g.134661722A>T | CA369472259 | BPGM | c.215A>T (p.Glu72Val) n.6821-587T>A | |
| 7 | g.134661723A>C | CA369472260 | BPGM | c.216A>C (p.Glu72Asp) n.6821-588T>G | |
| 7 | g.134661723A>G | CA458162029 | BPGM | c.216A>G (p.Glu72=) n.6821-588T>C | |
| 7 | g.134661723A>T | CA369472261 | BPGM | c.216A>T (p.Glu72Asp) n.6821-588T>A | |
| 7 | g.134661724G>A | CA369472262 | BPGM | c.217G>A (p.Glu73Lys) n.6821-589C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661724G>C | CA369472263 | BPGM | c.217G>C (p.Glu73Gln) n.6821-589C>G | |
| 7 | g.134661724G= | CA1745206716 | BPGM | c.217G= (p.Glu73=) n.6821-589C= | |
| 7 | g.134661724G>T | CA369472264 | BPGM | c.217G>T (p.Glu73Ter) n.6821-589C>A | |
| 7 | g.134661725A>C | CA369472265 | BPGM | c.218A>C (p.Glu73Ala) n.6821-590T>G | |
| 7 | g.134661725A>G | CA369472266 | BPGM | c.218A>G (p.Glu73Gly) n.6821-590T>C | gnomAD v4 |
| 7 | g.134661725A>T | CA369472267 | BPGM | c.218A>T (p.Glu73Val) n.6821-590T>A | |
| 7 | g.134661726G>A | CA458162030 | BPGM | c.219G>A (p.Glu73=) n.6821-591C>T | |
| 7 | g.134661726G>C | CA369472269 | BPGM | c.219G>C (p.Glu73Asp) n.6821-591C>G | |
| 7 | g.134661726G>T | CA369472268 | BPGM | c.219G>T (p.Glu73Asp) n.6821-591C>A | COSMIC |
| 7 | g.134661727C>A | CA369472270 | BPGM | c.220C>A (p.Leu74Ile) n.6821-592G>T | |
| 7 | g.134661727C>G | CA369472271 | BPGM | c.220C>G (p.Leu74Val) n.6821-592G>C | |
| 7 | g.134661727C>T | CA458162031 | BPGM | c.220C>T (p.Leu74=) n.6821-592G>A | |
| 7 | g.134661728T>A | CA369472272 | BPGM | c.221T>A (p.Leu74Gln) n.6821-593A>T | |
| 7 | g.134661728T>C | CA369472273 | BPGM | c.221T>C (p.Leu74Pro) n.6821-593A>G | |
| 7 | g.134661728T>G | CA369472274 | BPGM | c.221T>G (p.Leu74Arg) n.6821-593A>C | |
| 7 | g.134661728_134661733delinsTAGGCC | CA1745206717 | BPGM | c.221_226delinsTAGGCC (p.Leu74=) n.6821-598_6821-593delinsGGCCTA | |
| 7 | g.134661729A>C | CA458162032 | BPGM | c.222A>C (p.Leu74=) n.6821-594T>G | |
| 7 | g.134661729A>G | CA458162033 | BPGM | c.222A>G (p.Leu74=) n.6821-594T>C | |
| 7 | g.134661729A>T | CA458162034 | BPGM | c.222A>T (p.Leu74=) n.6821-594T>A | |
| 7 | g.134661732_134661736del | CA578155376 | BPGM | c.225_229del (p.Gln76MetfsTer12) c.225_229del (p.Gln76MetfsTer?) n.6821-598_6821-594del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.134661730G>A | CA369472277 | BPGM | c.223G>A (p.Gly75Ser) n.6821-595C>T | |
| 7 | g.134661730G>C | CA369472276 | BPGM | c.223G>C (p.Gly75Arg) n.6821-595C>G | |
| 7 | g.134661730G= | CA1745206718 | BPGM | c.223G= (p.Gly75=) n.6821-595C= | |
| 7 | g.134661730G>T | CA369472275 | BPGM | c.223G>T (p.Gly75Cys) n.6821-595C>A | dbSNP |
| 7 | g.134661731G>A | CA369472278 | BPGM | c.224G>A (p.Gly75Asp) n.6821-596C>T | |
| 7 | g.134661731G>C | CA369472279 | BPGM | c.224G>C (p.Gly75Ala) n.6821-596C>G | |
| 7 | g.134661731G>T | CA369472280 | BPGM | c.224G>T (p.Gly75Val) n.6821-596C>A | |
| 7 | g.134661732C>A | CA458162036 | BPGM | c.225C>A (p.Gly75=) n.6821-597G>T | |
| 7 | g.134661732C>G | CA458162037 | BPGM | c.225C>G (p.Gly75=) n.6821-597G>C | |
| 7 | g.134661732C>T | CA458162035 | BPGM | c.225C>T (p.Gly75=) n.6821-597G>A | |
| 7 | g.134661733C>A | CA369472281 | BPGM | c.226C>A (p.Gln76Lys) n.6821-598G>T | |
| 7 | g.134661733C= | CA1745206719 | BPGM | c.226C= (p.Gln76=) n.6821-598G= | |
| 7 | g.134661733C>G | CA4494663 | BPGM | c.226C>G (p.Gln76Glu) n.6821-598G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.134661733C>T | CA369472282 | BPGM | c.226C>T (p.Gln76Ter) n.6821-598G>A | COSMIC |
| 7 | g.134661734A>C | CA369472283 | BPGM | c.227A>C (p.Gln76Pro) n.6821-599T>G | |
| 7 | g.134661734A>G | CA369472285 | BPGM | c.227A>G (p.Gln76Arg) n.6821-599T>C | |
| 7 | g.134661734A>T | CA369472284 | BPGM | c.227A>T (p.Gln76Leu) n.6821-599T>A | |
| 7 | g.134661735G>A | CA458162038 | BPGM | c.228G>A (p.Gln76=) n.6821-600C>T | |
| 7 | g.134661735G>C | CA369472286 | BPGM | c.228G>C (p.Gln76His) n.6821-600C>G | |
| 7 | g.134661735G>T | CA369472287 | BPGM | c.228G>T (p.Gln76His) n.6821-600C>A | |
| 7 | g.134661736G>A | CA369472288 | BPGM | c.229G>A (p.Glu77Lys) n.6821-601C>T | |
| 7 | g.134661736G>C | CA369472289 | BPGM | c.229G>C (p.Glu77Gln) n.6821-601C>G | |
| 7 | g.134661736G>T | CA369472290 | BPGM | c.229G>T (p.Glu77Ter) n.6821-601C>A | |
| 7 | g.134661737A>C | CA369472291 | BPGM | c.230A>C (p.Glu77Ala) n.6821-602T>G | |
| 7 | g.134661737A>G | CA369472292 | BPGM | c.230A>G (p.Glu77Gly) n.6821-602T>C | |
| 7 | g.134661737A>T | CA369472293 | BPGM | c.230A>T (p.Glu77Val) n.6821-602T>A | |
| 7 | g.134661738A= | CA1745206720 | BPGM | c.231A= (p.Glu77=) n.6821-603T= | |
| 7 | g.134661738A>C | CA369472294 | BPGM | c.231A>C (p.Glu77Asp) n.6821-603T>G | |
| 7 | g.134661738A>G | CA4494664 | BPGM | c.231A>G (p.Glu77=) n.6821-603T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661738A>T | CA369472295 | BPGM | c.231A>T (p.Glu77Asp) n.6821-603T>A | |
| 7 | g.134661739del | CA2778013810 | BPGM | c.232del (p.Trp78GlyfsTer10) c.232del (p.Trp78=) n.6821-604del | |
| 7 | g.134661739T>A | CA369472298 | BPGM | c.232T>A (p.Trp78Arg) n.6821-604A>T | |
| 7 | g.134661739T>C | CA369472297 | BPGM | c.232T>C (p.Trp78Arg) n.6821-604A>G | gnomAD v4 |
| 7 | g.134661739T>G | CA369472296 | BPGM | c.232T>G (p.Trp78Gly) n.6821-604A>C | |
| 7 | g.134661740G>A | CA4494665 | BPGM | c.233G>A (p.Trp78Ter) n.6821-605C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.134661740G>C | CA369472300 | BPGM | c.233G>C (p.Trp78Ser) n.6821-605C>G | |
| 7 | g.134661740G= | CA1745206721 | BPGM | c.233G= (p.Trp78=) n.6821-605C= | |
| 7 | g.134661740G>T | CA369472299 | BPGM | c.233G>T (p.Trp78Leu) n.6821-605C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.134661741G>A | CA369472301 | BPGM | c.234G>A (p.Trp78Ter) n.6821-606C>T | |
| 7 | g.134661741G>C | CA369472303 | BPGM | c.234G>C (p.Trp78Cys) n.6821-606C>G | |
| 7 | g.134661741G>T | CA369472302 | BPGM | c.234G>T (p.Trp78Cys) n.6821-606C>A | |
| 7 | g.134661742G>A | CA369472304 | BPGM | c.235G>A (p.Val79Met) n.6821-607C>T | |
| 7 | g.134661742G>C | CA369472305 | BPGM | c.235G>C (p.Val79Leu) n.6821-607C>G | |
| 7 | g.134661742G>T | CA369472306 | BPGM | c.235G>T (p.Val79Leu) n.6821-607C>A | |
| 7 | g.134661743T>A | CA369472307 | BPGM | c.236T>A (p.Val79Glu) n.6821-608A>T | |
| 7 | g.134661743T>C | CA369472308 | BPGM | c.236T>C (p.Val79Ala) n.6821-608A>G | dbSNP |
| 7 | g.134661743T>G | CA369472309 | BPGM | c.236T>G (p.Val79Gly) n.6821-608A>C | |
| 7 | g.134661743T= | CA1745206722 | BPGM | c.236T= (p.Val79=) n.6821-608A= | |
| 7 | g.134661744G>A | CA458162039 | BPGM | c.237G>A (p.Val79=) n.6821-609C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.134661744G>C | CA458162040 | BPGM | c.237G>C (p.Val79=) n.6821-609C>G | |
| 7 | g.134661744G= | CA1745206723 | BPGM | c.237G= (p.Val79=) n.6821-609C= | |
| 7 | g.134661744G>T | CA458162041 | BPGM | c.237G>T (p.Val79=) n.6821-609C>A | |
| 7 | g.134661745C>A | CA369472312 | BPGM | c.238C>A (p.Pro80Thr) n.6821-610G>T | |
| 7 | g.134661745C>G | CA369472311 | BPGM | c.238C>G (p.Pro80Ala) n.6821-610G>C | |
| 7 | g.134661745C>T | CA369472310 | BPGM | c.238C>T (p.Pro80Ser) n.6821-610G>A | |
| 7 | g.134661746C>A | CA369472313 | BPGM | c.239C>A (p.Pro80His) n.6821-611G>T | COSMIC |
| 7 | g.134661746C= | CA1745206724 | BPGM | c.239C= (p.Pro80=) n.6821-611G= | |
| 7 | g.134661746C>G | CA369472314 | BPGM | c.239C>G (p.Pro80Arg) n.6821-611G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.134661746C>T | CA369472315 | BPGM | c.239C>T (p.Pro80Leu) n.6821-611G>A | |
| 7 | g.134661747T>A | CA458162042 | BPGM | c.240T>A (p.Pro80=) n.6821-612A>T | |
| 7 | g.134661747T>C | CA458162043 | BPGM | c.240T>C (p.Pro80=) n.6821-612A>G | gnomAD v4 |
| 7 | g.134661747T>G | CA458162044 | BPGM | c.240T>G (p.Pro80=) n.6821-612A>C | |
| 7 | g.134661748G>A | CA4494666 | BPGM | c.241G>A (p.Val81Met) n.6821-613C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.134661748G>C | CA369472316 | BPGM | c.241G>C (p.Val81Leu) n.6821-613C>G | |
| 7 | g.134661748G= | CA1745206725 | BPGM | c.241G= (p.Val81=) n.6821-613C= | |
| 7 | g.134661748G>T | CA369472317 | BPGM | c.241G>T (p.Val81Leu) n.6821-613C>A | |
| 7 | g.134661749T>A | CA369472318 | BPGM | c.242T>A (p.Val81Glu) n.6821-614A>T | |
| 7 | g.134661749T>C | CA369472320 | BPGM | c.242T>C (p.Val81Ala) n.6821-614A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.134661749T>G | CA369472319 | BPGM | c.242T>G (p.Val81Gly) n.6821-614A>C | |
| 7 | g.134661749T= | CA1745206726 | BPGM | c.242T= (p.Val81=) n.6821-614A= | |
| 7 | g.134661750G>A | CA167497228 | BPGM | c.243G>A (p.Val81=) n.6821-615C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.134661750G>C | CA458162045 | BPGM | c.243G>C (p.Val81=) n.6821-615C>G | |
| 7 | g.134661750G= | CA1745206727 | BPGM | c.243G= (p.Val81=) n.6821-615C= | |
| 7 | g.134661750G>T | CA458162046 | BPGM | c.243G>T (p.Val81=) n.6821-615C>A | |
| 7 | g.134661751G>A | CA369472321 | BPGM | c.244G>A (p.Glu82Lys) n.6821-616C>T | |
| 7 | g.134661751G>C | CA369472322 | BPGM | c.244G>C (p.Glu82Gln) n.6821-616C>G | |
| 7 | g.134661751G>T | CA369472323 | BPGM | c.244G>T (p.Glu82Ter) n.6821-616C>A | |
| 7 | g.134661752A>C | CA369472324 | BPGM | c.245A>C (p.Glu82Ala) n.6821-617T>G | |
| 7 | g.134661752A>G | CA369472325 | BPGM | c.245A>G (p.Glu82Gly) n.6821-617T>C | |
| 7 | g.134661752A>T | CA369472326 | BPGM | c.245A>T (p.Glu82Val) n.6821-617T>A | |
| 7 | g.134661753A>C | CA369472327 | BPGM | c.246A>C (p.Glu82Asp) n.6821-618T>G | |
| 7 | g.134661753A>G | CA458162047 | BPGM | c.246A>G (p.Glu82=) n.6821-618T>C | |
| 7 | g.134661753A>T | CA369472328 | BPGM | c.246A>T (p.Glu82Asp) n.6821-618T>A | |
| 7 | g.134661754A>C | CA369472329 | BPGM | c.247A>C (p.Ser83Arg) n.6821-619T>G | |
| 7 | g.134661754A>G | CA369472330 | BPGM | c.247A>G (p.Ser83Gly) n.6821-619T>C | gnomAD v4 |
| 7 | g.134661754A>T | CA369472331 | BPGM | c.247A>T (p.Ser83Cys) n.6821-619T>A | ClinVar |
| 7 | g.134661755G>A | CA369472332 | BPGM | c.248G>A (p.Ser83Asn) n.6821-620C>T | |
| 7 | g.134661755G>C | CA369472334 | BPGM | c.248G>C (p.Ser83Thr) n.6821-620C>G | dbSNP gnomAD v4 |
| 7 | g.134661755G= | CA1745206728 | BPGM | c.248G= (p.Ser83=) n.6821-620C= | |
| 7 | g.134661755G>T | CA369472333 | BPGM | c.248G>T (p.Ser83Ile) n.6821-620C>A | gnomAD v4 |
| 7 | g.134661756C>A | CA369472335 | BPGM | c.249C>A (p.Ser83Arg) n.6821-621G>T | |
| 7 | g.134661756C>G | CA369472336 | BPGM | c.249C>G (p.Ser83Arg) n.6821-621G>C | |
| 7 | g.134661756C>T | CA458162049 | BPGM | c.249C>T (p.Ser83=) n.6821-621G>A | |
| 7 | g.134661757T>A | CA369472337 | BPGM | c.250T>A (p.Ser84Thr) n.6821-622A>T | |
| 7 | g.134661757T>C | CA369472338 | BPGM | c.250T>C (p.Ser84Pro) n.6821-622A>G | |
| 7 | g.134661757T>G | CA369472339 | BPGM | c.250T>G (p.Ser84Ala) n.6821-622A>C | |
| 7 | g.134661758C>A | CA369472342 | BPGM | c.251C>A (p.Ser84Tyr) n.6821-623G>T | |
| 7 | g.134661758C>G | CA369472341 | BPGM | c.251C>G (p.Ser84Cys) n.6821-623G>C | |
| 7 | g.134661758C>T | CA369472340 | BPGM | c.251C>T (p.Ser84Phe) n.6821-623G>A | |
| 7 | g.134661759C>A | CA458162053 | BPGM | c.252C>A (p.Ser84=) n.6821-624G>T | |
| 7 | g.134661759C= | CA1745206729 | BPGM | c.252C= (p.Ser84=) n.6821-624G= | |
| 7 | g.134661759C>G | CA458162054 | BPGM | c.252C>G (p.Ser84=) n.6821-624G>C | gnomAD v4 |
| 7 | g.134661759C>T | CA458162055 | BPGM | c.252C>T (p.Ser84=) n.6821-624G>A | dbSNP gnomAD v4 |
| 7 | g.134661760T>A | CA369472343 | BPGM | c.253T>A (p.Trp85Arg) n.6821-625A>T | |
| 7 | g.134661760T>C | CA369472344 | BPGM | c.253T>C (p.Trp85Arg) n.6821-625A>G | |
| 7 | g.134661760T>G | CA369472345 | BPGM | c.253T>G (p.Trp85Gly) n.6821-625A>C | |
| 7 | g.134661761G>A | CA369472346 | BPGM | c.254G>A (p.Trp85Ter) n.6821-626C>T | |
| 7 | g.134661761G>C | CA369472347 | BPGM | c.254G>C (p.Trp85Ser) n.6821-626C>G | |
| 7 | g.134661761G>T | CA369472348 | BPGM | c.254G>T (p.Trp85Leu) n.6821-626C>A | |
| 7 | g.134661762G>A | CA369472349 | BPGM | c.255G>A (p.Trp85Ter) n.6821-627C>T | gnomAD v4 |
| 7 | g.134661762G>C | CA369472351 | BPGM | c.255G>C (p.Trp85Cys) n.6821-627C>G | |
| 7 | g.134661762G>T | CA369472350 | BPGM | c.255G>T (p.Trp85Cys) n.6821-627C>A | |
| 7 | g.134661763C>A | CA369472352 | BPGM | c.256C>A (p.Arg86Ser) n.6821-628G>T | |
| 7 | g.134661763C= | CA1745206730 | BPGM | c.256C= (p.Arg86=) n.6821-628G= | |
| 7 | g.134661763C>G | CA369472353 | BPGM | c.256C>G (p.Arg86Gly) n.6821-628G>C | |
| 7 | g.134661763C>T | CA4494667 | BPGM | c.256C>T (p.Arg86Cys) n.6821-628G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661764G>A | CA4494668 | BPGM | c.257G>A (p.Arg86His) n.6821-629C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661764G>C | CA369472354 | BPGM | c.257G>C (p.Arg86Pro) n.6821-629C>G | gnomAD v4 |
| 7 | g.134661764G= | CA1745206731 | BPGM | c.257G= (p.Arg86=) n.6821-629C= | |
| 7 | g.134661764G>T | CA369472355 | BPGM | c.257G>T (p.Arg86Leu) n.6821-629C>A | gnomAD v4 |
| 7 | g.134661765T>A | CA458162064 | BPGM | c.258T>A (p.Arg86=) n.6821-630A>T | |
| 7 | g.134661765T>C | CA458162063 | BPGM | c.258T>C (p.Arg86=) n.6821-630A>G | |
| 7 | g.134661765T>G | CA4494670 | BPGM | c.258T>G (p.Arg86=) n.6821-630A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.134661765T= | CA1745206732 | BPGM | c.258T= (p.Arg86=) n.6821-630A= | |
| 7 | g.134661765dup | CA4494669 | BPGM | c.258dup (p.Leu87SerfsTer3) n.6821-630dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661766C>A | CA369472356 | BPGM | c.259C>A (p.Leu87Ile) n.6821-631G>T | |
| 7 | g.134661766C= | CA1745206733 | BPGM | c.259C= (p.Leu87=) n.6821-631G= | |
| 7 | g.134661766C>G | CA369472357 | BPGM | c.259C>G (p.Leu87Val) n.6821-631G>C | |
| 7 | g.134661766C>T | CA167497229 | BPGM | c.259C>T (p.Leu87=) n.6821-631G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661767T>A | CA369472358 | BPGM | c.260T>A (p.Leu87Gln) n.6821-632A>T | |
| 7 | g.134661767T>C | CA369472360 | BPGM | c.260T>C (p.Leu87Pro) n.6821-632A>G | gnomAD v4 |
| 7 | g.134661767T>G | CA369472359 | BPGM | c.260T>G (p.Leu87Arg) n.6821-632A>C | |
| 7 | g.134661768A>C | CA458162071 | BPGM | c.261A>C (p.Leu87=) n.6821-633T>G | |
| 7 | g.134661768A>G | CA458162069 | BPGM | c.261A>G (p.Leu87=) n.6821-633T>C | |
| 7 | g.134661768A>T | CA458162070 | BPGM | c.261A>T (p.Leu87=) n.6821-633T>A | |
| 7 | g.134661769A>C | CA369472361 | BPGM | c.262A>C (p.Asn88His) n.6821-634T>G | |
| 7 | g.134661769A>G | CA369472363 | BPGM | c.262A>G (p.Asn88Asp) n.6821-634T>C | |
| 7 | g.134661769A>T | CA369472362 | BPGM | c.262A>T (p.Asn88Tyr) n.6821-634T>A | |
| 7 | g.134661770A= | CA1745206734 | BPGM | c.263A= (p.Asn88=) n.6821-635T= | |
| 7 | g.134661770A>C | CA369472364 | BPGM | c.263A>C (p.Asn88Thr) n.6821-635T>G | dbSNP |
| 7 | g.134661770A>G | CA369472365 | BPGM | c.263A>G (p.Asn88Ser) n.6821-635T>C | gnomAD v4 |
| 7 | g.134661770A>T | CA369472366 | BPGM | c.263A>T (p.Asn88Ile) n.6821-635T>A | |
| 7 | g.134661771T>A | CA369472367 | BPGM | c.264T>A (p.Asn88Lys) n.6821-636A>T | |
| 7 | g.134661771T>C | CA458162081 | BPGM | c.264T>C (p.Asn88=) n.6821-636A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.134661771T>G | CA369472368 | BPGM | c.264T>G (p.Asn88Lys) n.6821-636A>C | gnomAD v4 |
| 7 | g.134661771T= | CA1745206735 | BPGM | c.264T= (p.Asn88=) n.6821-636A= | |
| 7 | g.134661772G>A | CA369472369 | BPGM | c.265G>A (p.Glu89Lys) n.6821-637C>T | |
| 7 | g.134661772G>C | CA369472370 | BPGM | c.265G>C (p.Glu89Gln) n.6821-637C>G | |
| 7 | g.134661772G>T | CA369472371 | BPGM | c.265G>T (p.Glu89Ter) n.6821-637C>A | |
| 7 | g.134661773A>C | CA369472372 | BPGM | c.266A>C (p.Glu89Ala) n.6821-638T>G | |
| 7 | g.134661773A>G | CA369472373 | BPGM | c.266A>G (p.Glu89Gly) n.6821-638T>C | |
| 7 | g.134661773A>T | CA369472374 | BPGM | c.266A>T (p.Glu89Val) n.6821-638T>A | |
| 7 | g.134661774G>A | CA458162082 | BPGM | c.267G>A (p.Glu89=) n.6821-639C>T | |
| 7 | g.134661774G>C | CA369472376 | BPGM | c.267G>C (p.Glu89Asp) n.6821-639C>G | |
| 7 | g.134661774G= | CA1745206736 | BPGM | c.267G= (p.Glu89=) n.6821-639C= | |
| 7 | g.134661774G>T | CA369472375 | BPGM | c.267G>T (p.Glu89Asp) n.6821-639C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.134661775C>A | CA369472377 | BPGM | c.268C>A (p.Arg90Ser) n.6821-640G>T | |
| 7 | g.134661775C= | CA1745206737 | BPGM | c.268C= (p.Arg90=) n.6821-640G= | |
| 7 | g.134661775C>G | CA369472378 | BPGM | c.268C>G (p.Arg90Gly) n.6821-640G>C | |
| 7 | g.134661775C>T | CA212935 | BPGM | c.268C>T (p.Arg90Cys) n.6821-640G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.134661776G>A | CA369472379 | BPGM | c.269G>A (p.Arg90His) n.6821-641C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.134661776G>C | CA369472380 | BPGM | c.269G>C (p.Arg90Pro) n.6821-641C>G | |
| 7 | g.134661776G= | CA1745206738 | BPGM | c.269G= (p.Arg90=) n.6821-641C= | |
| 7 | g.134661776G>T | CA4494671 | BPGM | c.269G>T (p.Arg90Leu) n.6821-641C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.134661777T>A | CA458162090 | BPGM | c.270T>A (p.Arg90=) n.6821-642A>T | |
| 7 | g.134661777T>C | CA458162091 | BPGM | c.270T>C (p.Arg90=) n.6821-642A>G | |
| 7 | g.134661777T>G | CA458162093 | BPGM | c.270T>G (p.Arg90=) n.6821-642A>C | |
| 7 | g.134661778C>A | CA369472381 | BPGM | c.271C>A (p.His91Asn) n.6821-643G>T | |
| 7 | g.134661778C>G | CA369472382 | BPGM | c.271C>G (p.His91Asp) n.6821-643G>C | |
| 7 | g.134661778C>T | CA369472383 | BPGM | c.271C>T (p.His91Tyr) n.6821-643G>A | |
| 7 | g.134661778_134661779delinsCA | CA1745206739 | BPGM | c.271_272delinsCA (p.His91=) n.6821-644_6821-643delinsTG |