UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.76733367C>A | CA401188317 | METTL23 | c.397C>A (p.Gln133Lys) c.40C>A (p.Gln14Lys) c.196C>A (p.Gln66Lys) c.238+152C>A (n.238+152C>A) n.493C>A c.385C>A (p.Gln129Lys) n.424C>A c.433C>A (p.Gln145Lys) c.364C>A (p.Gln122Lys) c.469C>A (p.Gln157Lys) c.*114C>A (n.*114C>A) | |
| 17 | g.76733367C= | CA2276140502 | METTL23 | c.397C= (p.Gln133=) c.40C= (p.Gln14=) c.196C= (p.Gln66=) c.238+152C= (n.238+152C=) n.493C= c.385C= (p.Gln129=) n.424C= c.433C= (p.Gln145=) c.364C= (p.Gln122=) c.469C= (p.Gln157=) c.*114C= (n.*114C=) | |
| 17 | g.76733367C>G | CA401188318 | METTL23 | c.397C>G (p.Gln133Glu) c.40C>G (p.Gln14Glu) c.196C>G (p.Gln66Glu) c.238+152C>G (n.238+152C>G) n.493C>G c.385C>G (p.Gln129Glu) n.424C>G c.433C>G (p.Gln145Glu) c.364C>G (p.Gln122Glu) c.469C>G (p.Gln157Glu) c.*114C>G (n.*114C>G) | gnomAD v4 COSMIC |
| 17 | g.76733367C>T | CA170579 | METTL23 | c.397C>T (p.Gln133Ter) c.40C>T (p.Gln14Ter) c.196C>T (p.Gln66Ter) c.238+152C>T (n.238+152C>T) n.493C>T c.385C>T (p.Gln129Ter) n.424C>T c.433C>T (p.Gln145Ter) c.364C>T (p.Gln122Ter) c.469C>T (p.Gln157Ter) c.*114C>T (n.*114C>T) | ClinVar dbSNP |
| 17 | g.76733368A= | CA2276140503 | METTL23 | c.398A= (p.Gln133=) c.41A= (p.Gln14=) c.197A= (p.Gln66=) c.238+153A= (n.238+153A=) n.494A= c.386A= (p.Gln129=) n.425A= c.434A= (p.Gln145=) c.365A= (p.Gln122=) c.470A= (p.Gln157=) c.*115A= (n.*115A=) | |
| 17 | g.76733368A>C | CA401188322 | METTL23 | c.398A>C (p.Gln133Pro) c.41A>C (p.Gln14Pro) c.197A>C (p.Gln66Pro) c.238+153A>C (n.238+153A>C) n.494A>C c.386A>C (p.Gln129Pro) n.425A>C c.434A>C (p.Gln145Pro) c.365A>C (p.Gln122Pro) c.470A>C (p.Gln157Pro) c.*115A>C (n.*115A>C) | |
| 17 | g.76733368A>G | CA294231421 | METTL23 | c.398A>G (p.Gln133Arg) c.41A>G (p.Gln14Arg) c.197A>G (p.Gln66Arg) c.238+153A>G (n.238+153A>G) n.494A>G c.386A>G (p.Gln129Arg) n.425A>G c.434A>G (p.Gln145Arg) c.365A>G (p.Gln122Arg) c.470A>G (p.Gln157Arg) c.*115A>G (n.*115A>G) | dbSNP |
| 17 | g.76733368A>T | CA401188324 | METTL23 | c.398A>T (p.Gln133Leu) c.41A>T (p.Gln14Leu) c.197A>T (p.Gln66Leu) c.238+153A>T (n.238+153A>T) n.494A>T c.386A>T (p.Gln129Leu) n.425A>T c.434A>T (p.Gln145Leu) c.365A>T (p.Gln122Leu) c.470A>T (p.Gln157Leu) c.*115A>T (n.*115A>T) | |
| 17 | g.76733368_76733369del | CA2640032964 | METTL23 | c.398_399del (p.Gln133ArgfsTer2) c.41_42del (p.Gln14ArgfsTer2) c.197_198del (p.Gln66ArgfsTer2) c.238+153_238+154del (n.238+153_238+154del) n.494_495del c.386_387del (p.Gln129ArgfsTer2) n.425_426del c.434_435del (p.Gln145ArgfsTer2) c.365_366del (p.Gln122ArgfsTer2) c.470_471del (p.Gln157ArgfsTer2) c.*115_*116del (n.*115_*116del) | gnomAD v4 |
| 17 | g.76733369A= | CA2276140504 | METTL23 | c.399A= (p.Gln133=) c.42A= (p.Gln14=) c.198A= (p.Gln66=) c.238+154A= (n.238+154A=) n.495A= c.387A= (p.Gln129=) n.426A= c.435A= (p.Gln145=) c.366A= (p.Gln122=) c.471A= (p.Gln157=) c.*116A= (n.*116A=) | |
| 17 | g.76733369A>C | CA401188327 | METTL23 | c.399A>C (p.Gln133His) c.42A>C (p.Gln14His) c.198A>C (p.Gln66His) c.238+154A>C (n.238+154A>C) n.495A>C c.387A>C (p.Gln129His) n.426A>C c.435A>C (p.Gln145His) c.366A>C (p.Gln122His) c.471A>C (p.Gln157His) c.*116A>C (n.*116A>C) | |
| 17 | g.76733369A>G | CA8790164 | METTL23 | c.399A>G (p.Gln133=) c.42A>G (p.Gln14=) c.198A>G (p.Gln66=) c.238+154A>G (n.238+154A>G) n.495A>G c.387A>G (p.Gln129=) n.426A>G c.435A>G (p.Gln145=) c.366A>G (p.Gln122=) c.471A>G (p.Gln157=) c.*116A>G (n.*116A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76733369A>T | CA401188330 | METTL23 | c.399A>T (p.Gln133His) c.42A>T (p.Gln14His) c.198A>T (p.Gln66His) c.238+154A>T (n.238+154A>T) n.495A>T c.387A>T (p.Gln129His) n.426A>T c.435A>T (p.Gln145His) c.366A>T (p.Gln122His) c.471A>T (p.Gln157His) c.*116A>T (n.*116A>T) | |
| 17 | g.76733370G>A | CA401188333 | METTL23 | c.400G>A (p.Val134Ile) c.43G>A (p.Val15Ile) c.199G>A (p.Val67Ile) c.238+155G>A (n.238+155G>A) n.496G>A c.388G>A (p.Val130Ile) n.427G>A c.436G>A (p.Val146Ile) c.367G>A (p.Val123Ile) c.472G>A (p.Val158Ile) c.*117G>A (n.*117G>A) | |
| 17 | g.76733370G>C | CA401188335 | METTL23 | c.400G>C (p.Val134Leu) c.43G>C (p.Val15Leu) c.199G>C (p.Val67Leu) c.238+155G>C (n.238+155G>C) n.496G>C c.388G>C (p.Val130Leu) n.427G>C c.436G>C (p.Val146Leu) c.367G>C (p.Val123Leu) c.472G>C (p.Val158Leu) c.*117G>C (n.*117G>C) | |
| 17 | g.76733370G>T | CA401188336 | METTL23 | c.400G>T (p.Val134Phe) c.43G>T (p.Val15Phe) c.199G>T (p.Val67Phe) c.238+155G>T (n.238+155G>T) n.496G>T c.388G>T (p.Val130Phe) n.427G>T c.436G>T (p.Val146Phe) c.367G>T (p.Val123Phe) c.472G>T (p.Val158Phe) c.*117G>T (n.*117G>T) | |
| 17 | g.76733371T>A | CA401188340 | METTL23 | c.401T>A (p.Val134Asp) c.44T>A (p.Val15Asp) c.200T>A (p.Val67Asp) c.238+156T>A (n.238+156T>A) n.497T>A c.389T>A (p.Val130Asp) n.428T>A c.437T>A (p.Val146Asp) c.368T>A (p.Val123Asp) c.473T>A (p.Val158Asp) c.*118T>A (n.*118T>A) | gnomAD v4 |
| 17 | g.76733371T>C | CA401188341 | METTL23 | c.401T>C (p.Val134Ala) c.44T>C (p.Val15Ala) c.200T>C (p.Val67Ala) c.238+156T>C (n.238+156T>C) n.497T>C c.389T>C (p.Val130Ala) n.428T>C c.437T>C (p.Val146Ala) c.368T>C (p.Val123Ala) c.473T>C (p.Val158Ala) c.*118T>C (n.*118T>C) | |
| 17 | g.76733371T>G | CA401188343 | METTL23 | c.401T>G (p.Val134Gly) c.44T>G (p.Val15Gly) c.200T>G (p.Val67Gly) c.238+156T>G (n.238+156T>G) n.497T>G c.389T>G (p.Val130Gly) n.428T>G c.437T>G (p.Val146Gly) c.368T>G (p.Val123Gly) c.473T>G (p.Val158Gly) c.*118T>G (n.*118T>G) | |
| 17 | g.76733372T>A | CA502069118 | METTL23 | c.402T>A (p.Val134=) c.45T>A (p.Val15=) c.201T>A (p.Val67=) c.238+157T>A (n.238+157T>A) n.498T>A c.390T>A (p.Val130=) n.429T>A c.438T>A (p.Val146=) c.369T>A (p.Val123=) c.474T>A (p.Val158=) c.*119T>A (n.*119T>A) | |
| 17 | g.76733372T>C | CA502069119 | METTL23 | c.402T>C (p.Val134=) c.45T>C (p.Val15=) c.201T>C (p.Val67=) c.238+157T>C (n.238+157T>C) n.498T>C c.390T>C (p.Val130=) n.429T>C c.438T>C (p.Val146=) c.369T>C (p.Val123=) c.474T>C (p.Val158=) c.*119T>C (n.*119T>C) | |
| 17 | g.76733372T>G | CA502069120 | METTL23 | c.402T>G (p.Val134=) c.45T>G (p.Val15=) c.201T>G (p.Val67=) c.238+157T>G (n.238+157T>G) n.498T>G c.390T>G (p.Val130=) n.429T>G c.438T>G (p.Val146=) c.369T>G (p.Val123=) c.474T>G (p.Val158=) c.*119T>G (n.*119T>G) | |
| 17 | g.76733373A>C | CA502069121 | METTL23 | c.403A>C (p.Arg135=) c.46A>C (p.Arg16=) c.202A>C (p.Arg68=) c.238+158A>C (n.238+158A>C) n.499A>C c.391A>C (p.Arg131=) n.430A>C c.439A>C (p.Arg147=) c.370A>C (p.Arg124=) c.475A>C (p.Arg159=) c.*120A>C (n.*120A>C) | |
| 17 | g.76733373A>G | CA401188347 | METTL23 | c.403A>G (p.Arg135Gly) c.46A>G (p.Arg16Gly) c.202A>G (p.Arg68Gly) c.238+158A>G (n.238+158A>G) n.499A>G c.391A>G (p.Arg131Gly) n.430A>G c.439A>G (p.Arg147Gly) c.370A>G (p.Arg124Gly) c.475A>G (p.Arg159Gly) c.*120A>G (n.*120A>G) | ClinVar |
| 17 | g.76733373A>T | CA401188345 | METTL23 | c.403A>T (p.Arg135Trp) c.46A>T (p.Arg16Trp) c.202A>T (p.Arg68Trp) c.238+158A>T (n.238+158A>T) n.499A>T c.391A>T (p.Arg131Trp) n.430A>T c.439A>T (p.Arg147Trp) c.370A>T (p.Arg124Trp) c.475A>T (p.Arg159Trp) c.*120A>T (n.*120A>T) | |
| 17 | g.76733376_76733378del | CA2640032985 | METTL23 | c.406_407+1del c.49_50+1del c.406_408del (p.Arg136del) c.205_206+1del c.238+161_238+163del (n.238+161_238+163del) c.205_207del (p.Arg69del) n.502_503+1del c.394_395+1del n.433_434+1del c.442_443+1del c.373_374+1del c.394_396del (p.Arg132del) c.478_479+1del c.*123_*125del (n.*123_*125del) | gnomAD v4 |
| 17 | g.76733374G>A | CA401188350 | METTL23 | c.404G>A (p.Arg135Lys) c.47G>A (p.Arg16Lys) c.203G>A (p.Arg68Lys) c.238+159G>A (n.238+159G>A) n.500G>A c.392G>A (p.Arg131Lys) n.431G>A c.440G>A (p.Arg147Lys) c.371G>A (p.Arg124Lys) c.476G>A (p.Arg159Lys) c.*121G>A (n.*121G>A) | gnomAD v4 |
| 17 | g.76733374G>C | CA401188352 | METTL23 | c.404G>C (p.Arg135Thr) c.47G>C (p.Arg16Thr) c.203G>C (p.Arg68Thr) c.238+159G>C (n.238+159G>C) n.500G>C c.392G>C (p.Arg131Thr) n.431G>C c.440G>C (p.Arg147Thr) c.371G>C (p.Arg124Thr) c.476G>C (p.Arg159Thr) c.*121G>C (n.*121G>C) | gnomAD v4 |
| 17 | g.76733374G>T | CA401188354 | METTL23 | c.404G>T (p.Arg135Met) c.47G>T (p.Arg16Met) c.203G>T (p.Arg68Met) c.238+159G>T (n.238+159G>T) n.500G>T c.392G>T (p.Arg131Met) n.431G>T c.440G>T (p.Arg147Met) c.371G>T (p.Arg124Met) c.476G>T (p.Arg159Met) c.*121G>T (n.*121G>T) | |
| 17 | g.76733375G>A | CA502069122 | METTL23 | c.405G>A (p.Arg135=) c.48G>A (p.Arg16=) c.204G>A (p.Arg68=) c.238+160G>A (n.238+160G>A) n.501G>A c.393G>A (p.Arg131=) n.432G>A c.441G>A (p.Arg147=) c.372G>A (p.Arg124=) c.477G>A (p.Arg159=) c.*122G>A (n.*122G>A) | gnomAD v4 |
| 17 | g.76733375G>C | CA401188356 | METTL23 | c.405G>C (p.Arg135Ser) c.48G>C (p.Arg16Ser) c.204G>C (p.Arg68Ser) c.238+160G>C (n.238+160G>C) n.501G>C c.393G>C (p.Arg131Ser) n.432G>C c.441G>C (p.Arg147Ser) c.372G>C (p.Arg124Ser) c.477G>C (p.Arg159Ser) c.*122G>C (n.*122G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76733375G= | CA2276140505 | METTL23 | c.405G= (p.Arg135=) c.48G= (p.Arg16=) c.204G= (p.Arg68=) c.238+160G= (n.238+160G=) n.501G= c.393G= (p.Arg131=) n.432G= c.441G= (p.Arg147=) c.372G= (p.Arg124=) c.477G= (p.Arg159=) c.*122G= (n.*122G=) | |
| 17 | g.76733375G>T | CA401188358 | METTL23 | c.405G>T (p.Arg135Ser) c.48G>T (p.Arg16Ser) c.204G>T (p.Arg68Ser) c.238+160G>T (n.238+160G>T) n.501G>T c.393G>T (p.Arg131Ser) n.432G>T c.441G>T (p.Arg147Ser) c.372G>T (p.Arg124Ser) c.477G>T (p.Arg159Ser) c.*122G>T (n.*122G>T) | |
| 17 | g.76733376A= | CA2276140506 | METTL23 | c.406A= (p.Ser136=) c.49A= (p.Ser17=) c.406A= (p.Arg136=) c.205A= (p.Ser69=) c.238+161A= (n.238+161A=) c.205A= (p.Arg69=) n.502A= c.394A= (p.Ser132=) n.433A= c.442A= (p.Ser148=) c.373A= (p.Ser125=) c.394A= (p.Arg132=) c.478A= (p.Ser160=) c.*123A= (n.*123A=) | |
| 17 | g.76733376A>C | CA401188362 | METTL23 | c.406A>C (p.Ser136Arg) c.49A>C (p.Ser17Arg) c.406A>C (p.Arg136=) c.205A>C (p.Ser69Arg) c.238+161A>C (n.238+161A>C) c.205A>C (p.Arg69=) n.502A>C c.394A>C (p.Ser132Arg) n.433A>C c.442A>C (p.Ser148Arg) c.373A>C (p.Ser125Arg) c.394A>C (p.Arg132=) c.478A>C (p.Ser160Arg) c.*123A>C (n.*123A>C) | |
| 17 | g.76733376A>G | CA249295 | METTL23 | c.406A>G (p.Ser136Gly) c.49A>G (p.Ser17Gly) c.406A>G (p.Arg136Gly) c.205A>G (p.Ser69Gly) c.238+161A>G (n.238+161A>G) c.205A>G (p.Arg69Gly) n.502A>G c.394A>G (p.Ser132Gly) n.433A>G c.442A>G (p.Ser148Gly) c.373A>G (p.Ser125Gly) c.394A>G (p.Arg132Gly) c.478A>G (p.Ser160Gly) c.*123A>G (n.*123A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76733376A>T | CA401188360 | METTL23 | c.406A>T (p.Ser136Cys) c.49A>T (p.Ser17Cys) c.406A>T (p.Arg136Trp) c.205A>T (p.Ser69Cys) c.238+161A>T (n.238+161A>T) c.205A>T (p.Arg69Trp) n.502A>T c.394A>T (p.Ser132Cys) n.433A>T c.442A>T (p.Ser148Cys) c.373A>T (p.Ser125Cys) c.394A>T (p.Arg132Trp) c.478A>T (p.Ser160Cys) c.*123A>T (n.*123A>T) | |
| 17 | g.76733376_76733377delinsAG | CA2276140507 | METTL23 | c.406_407delinsAG (p.Ser136=) c.49_50delinsAG (p.Ser17=) c.406_407delinsAG (p.Arg136=) c.205_206delinsAG (p.Ser69=) c.238+161_238+162delinsAG (n.238+161_238+162delinsAG) c.205_206delinsAG (p.Arg69=) n.502_503delinsAG c.394_395delinsAG (p.Ser132=) n.433_434delinsAG c.442_443delinsAG (p.Ser148=) c.373_374delinsAG (p.Ser125=) c.394_395delinsAG (p.Arg132=) c.478_479delinsAG (p.Ser160=) c.*123_*124delinsAG (n.*123_*124delinsAG) | |
| 17 | g.76733377G>A | CA401188364 | METTL23 | c.407G>A (p.Ser136Asn) c.50G>A (p.Ser17Asn) c.407G>A (p.Arg136Lys) c.206G>A (p.Ser69Asn) c.238+162G>A (n.238+162G>A) c.206G>A (p.Arg69Lys) n.503G>A c.395G>A (p.Ser132Asn) n.434G>A c.443G>A (p.Ser148Asn) c.374G>A (p.Ser125Asn) c.395G>A (p.Arg132Lys) c.479G>A (p.Ser160Asn) c.*124G>A (n.*124G>A) | gnomAD v4 |
| 17 | g.76733377G>C | CA401188366 | METTL23 | c.407G>C (p.Ser136Thr) c.50G>C (p.Ser17Thr) c.407G>C (p.Arg136Thr) c.206G>C (p.Ser69Thr) c.238+162G>C (n.238+162G>C) c.206G>C (p.Arg69Thr) n.503G>C c.395G>C (p.Ser132Thr) n.434G>C c.443G>C (p.Ser148Thr) c.374G>C (p.Ser125Thr) c.395G>C (p.Arg132Thr) c.479G>C (p.Ser160Thr) c.*124G>C (n.*124G>C) | |
| 17 | g.76733377G>T | CA401188368 | METTL23 | c.407G>T (p.Ser136Ile) c.50G>T (p.Ser17Ile) c.407G>T (p.Arg136Met) c.206G>T (p.Ser69Ile) c.238+162G>T (n.238+162G>T) c.206G>T (p.Arg69Met) n.503G>T c.395G>T (p.Ser132Ile) n.434G>T c.443G>T (p.Ser148Ile) c.374G>T (p.Ser125Ile) c.395G>T (p.Arg132Met) c.479G>T (p.Ser160Ile) c.*124G>T (n.*124G>T) | |
| 17 | g.76733378del | CA627600281 | METTL23 | c.407+1del c.50+1del c.408del (p.Arg136SerfsTer?) c.206+1del c.238+163del (n.238+163del) c.207del (p.Arg69SerfsTer?) n.503+1del c.408del (p.Arg136SerfsTer5) c.207del (p.Arg69SerfsTer5) c.395+1del n.434+1del c.443+1del c.374+1del c.396del (p.Arg132SerfsTer5) c.479+1del c.*125del (n.*125del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76733378G>A | CA401188370 | METTL23 | c.407+1G>A (n.407+1G>A) c.50+1G>A (n.50+1G>A) c.408G>A (p.Arg136=) c.206+1G>A (n.206+1G>A) c.238+163G>A (n.238+163G>A) c.207G>A (p.Arg69=) n.503+1G>A c.395+1G>A (n.395+1G>A) n.434+1G>A c.443+1G>A (n.443+1G>A) c.374+1G>A (n.374+1G>A) c.396G>A (p.Arg132=) c.479+1G>A (n.479+1G>A) c.*125G>A (n.*125G>A) | |
| 17 | g.76733378G>C | CA16607844 | METTL23 | c.407+1G>C (n.407+1G>C) c.50+1G>C (n.50+1G>C) c.408G>C (p.Arg136Ser) c.206+1G>C (n.206+1G>C) c.238+163G>C (n.238+163G>C) c.207G>C (p.Arg69Ser) n.503+1G>C c.395+1G>C (n.395+1G>C) n.434+1G>C c.443+1G>C (n.443+1G>C) c.374+1G>C (n.374+1G>C) c.396G>C (p.Arg132Ser) c.479+1G>C (n.479+1G>C) c.*125G>C (n.*125G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76733378G= | CA2276140508 | METTL23 | c.407+1G= (n.407+1G=) c.50+1G= (n.50+1G=) c.408G= (p.Arg136=) c.206+1G= (n.206+1G=) c.238+163G= (n.238+163G=) c.207G= (p.Arg69=) n.503+1G= c.395+1G= (n.395+1G=) n.434+1G= c.443+1G= (n.443+1G=) c.374+1G= (n.374+1G=) c.396G= (p.Arg132=) c.479+1G= (n.479+1G=) c.*125G= (n.*125G=) | |
| 17 | g.76733378G>T | CA401188373 | METTL23 | c.407+1G>T (n.407+1G>T) c.50+1G>T (n.50+1G>T) c.408G>T (p.Arg136Ser) c.206+1G>T (n.206+1G>T) c.238+163G>T (n.238+163G>T) c.207G>T (p.Arg69Ser) n.503+1G>T c.395+1G>T (n.395+1G>T) n.434+1G>T c.443+1G>T (n.443+1G>T) c.374+1G>T (n.374+1G>T) c.396G>T (p.Arg132Ser) c.479+1G>T (n.479+1G>T) c.*125G>T (n.*125G>T) | |
| 17 | g.76733379C>A | CA401188376 | METTL23 | c.407+2C>A (n.407+2C>A) c.50+2C>A (n.50+2C>A) c.409C>A (p.Gln137Lys) c.206+2C>A (n.206+2C>A) c.238+164C>A (n.238+164C>A) c.208C>A (p.Gln70Lys) n.503+2C>A c.395+2C>A (n.395+2C>A) n.434+2C>A c.443+2C>A (n.443+2C>A) c.374+2C>A (n.374+2C>A) c.397C>A (p.Gln133Lys) c.479+2C>A (n.479+2C>A) c.*126C>A (n.*126C>A) | gnomAD v4 |
| 17 | g.76733379C= | CA2276140509 | METTL23 | c.407+2C= (n.407+2C=) c.50+2C= (n.50+2C=) c.409C= (p.Gln137=) c.206+2C= (n.206+2C=) c.238+164C= (n.238+164C=) c.208C= (p.Gln70=) n.503+2C= c.395+2C= (n.395+2C=) n.434+2C= c.443+2C= (n.443+2C=) c.374+2C= (n.374+2C=) c.397C= (p.Gln133=) c.479+2C= (n.479+2C=) c.*126C= (n.*126C=) | |
| 17 | g.76733379C>G | CA401188380 | METTL23 | c.407+2C>G (n.407+2C>G) c.50+2C>G (n.50+2C>G) c.409C>G (p.Gln137Glu) c.206+2C>G (n.206+2C>G) c.238+164C>G (n.238+164C>G) c.208C>G (p.Gln70Glu) n.503+2C>G c.395+2C>G (n.395+2C>G) n.434+2C>G c.443+2C>G (n.443+2C>G) c.374+2C>G (n.374+2C>G) c.397C>G (p.Gln133Glu) c.479+2C>G (n.479+2C>G) c.*126C>G (n.*126C>G) | |
| 17 | g.76733379C>T | CA401188377 | METTL23 | c.407+2C>T (n.407+2C>T) c.50+2C>T (n.50+2C>T) c.409C>T (p.Gln137Ter) c.206+2C>T (n.206+2C>T) c.238+164C>T (n.238+164C>T) c.208C>T (p.Gln70Ter) n.503+2C>T c.395+2C>T (n.395+2C>T) n.434+2C>T c.443+2C>T (n.443+2C>T) c.374+2C>T (n.374+2C>T) c.397C>T (p.Gln133Ter) c.479+2C>T (n.479+2C>T) c.*126C>T (n.*126C>T) | dbSNP gnomAD v4 |