Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47441660_47441665dup | CA2574817142 | RAPSN | c.860_865dup (p.Ala288_Leu289insGlnAla) c.789+160_789+165dup (n.789+160_789+165dup) c.701_706dup (p.Ala235_Leu236insGlnAla) n.69_74dup | |
11 | g.47441661C>A | CA380329202 | RAPSN | c.862G>T (p.Ala288Ser) c.789+162G>T (n.789+162G>T) c.703G>T (p.Ala235Ser) n.71G>T | |
11 | g.47441661C>G | CA380329203 | RAPSN | c.862G>C (p.Ala288Pro) c.789+162G>C (n.789+162G>C) c.703G>C (p.Ala235Pro) n.71G>C | |
11 | g.47441661C>T | CA380329204 | RAPSN | c.862G>A (p.Ala288Thr) c.789+162G>A (n.789+162G>A) c.703G>A (p.Ala235Thr) n.71G>A | |
11 | g.47441662C>A | CA380329205 | RAPSN | c.861G>T (p.Gln287His) c.789+161G>T (n.789+161G>T) c.702G>T (p.Gln234His) n.70G>T | |
11 | g.47441662C= | CA1969387576 | RAPSN | c.861G= (p.Gln287=) c.789+161G= (n.789+161G=) c.702G= (p.Gln234=) n.70G= | |
11 | g.47441662C>G | CA380329208 | RAPSN | c.861G>C (p.Gln287His) c.789+161G>C (n.789+161G>C) c.702G>C (p.Gln234His) n.70G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441662C>T | CA474218132 | RAPSN | c.861G>A (p.Gln287=) c.789+161G>A (n.789+161G>A) c.702G>A (p.Gln234=) n.70G>A | |
11 | g.47441663T>A | CA380329217 | RAPSN | c.860A>T (p.Gln287Leu) c.789+160A>T (n.789+160A>T) c.701A>T (p.Gln234Leu) n.69A>T | gnomAD v4 |
11 | g.47441663T>C | CA380329212 | RAPSN | c.860A>G (p.Gln287Arg) c.789+160A>G (n.789+160A>G) c.701A>G (p.Gln234Arg) n.69A>G | gnomAD v4 |
11 | g.47441663T>G | CA380329210 | RAPSN | c.860A>C (p.Gln287Pro) c.789+160A>C (n.789+160A>C) c.701A>C (p.Gln234Pro) n.69A>C | |
11 | g.47441664G>A | CA380329220 | RAPSN | c.859C>T (p.Gln287Ter) c.789+159C>T (n.789+159C>T) c.700C>T (p.Gln234Ter) n.68C>T | gnomAD v4 |
11 | g.47441664G>C | CA380329221 | RAPSN | c.859C>G (p.Gln287Glu) c.789+159C>G (n.789+159C>G) c.700C>G (p.Gln234Glu) n.68C>G | |
11 | g.47441664G>T | CA380329222 | RAPSN | c.859C>A (p.Gln287Lys) c.789+159C>A (n.789+159C>A) c.700C>A (p.Gln234Lys) n.68C>A | gnomAD v4 |
11 | g.47441665C>A | CA474218136 | RAPSN | c.858G>T (p.Val286=) c.789+158G>T (n.789+158G>T) c.699G>T (p.Val233=) n.67G>T | |
11 | g.47441665C= | CA1969387577 | RAPSN | c.858G= (p.Val286=) c.789+158G= (n.789+158G=) c.699G= (p.Val233=) n.67G= | |
11 | g.47441665C>G | CA474218138 | RAPSN | c.858G>C (p.Val286=) c.789+158G>C (n.789+158G>C) c.699G>C (p.Val233=) n.67G>C | |
11 | g.47441665C>T | CA221716232 | RAPSN | c.858G>A (p.Val286=) c.789+158G>A (n.789+158G>A) c.699G>A (p.Val233=) n.67G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441666A= | CA1969387578 | RAPSN | c.857T= (p.Val286=) c.789+157T= (n.789+157T=) c.698T= (p.Val233=) n.66T= | |
11 | g.47441666A>C | CA380329225 | RAPSN | c.857T>G (p.Val286Gly) c.789+157T>G (n.789+157T>G) c.698T>G (p.Val233Gly) n.66T>G | dbSNP |
11 | g.47441666A>G | CA380329226 | RAPSN | c.857T>C (p.Val286Ala) c.789+157T>C (n.789+157T>C) c.698T>C (p.Val233Ala) n.66T>C | |
11 | g.47441666A>T | CA380329227 | RAPSN | c.857T>A (p.Val286Glu) c.789+157T>A (n.789+157T>A) c.698T>A (p.Val233Glu) n.66T>A | |
11 | g.47441667C>A | CA380329231 | RAPSN | c.856G>T (p.Val286Leu) c.789+156G>T (n.789+156G>T) c.697G>T (p.Val233Leu) n.65G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441667C= | CA1969387579 | RAPSN | c.856G= (p.Val286=) c.789+156G= (n.789+156G=) c.697G= (p.Val233=) n.65G= | |
11 | g.47441667C>G | CA380329237 | RAPSN | c.856G>C (p.Val286Leu) c.789+156G>C (n.789+156G>C) c.697G>C (p.Val233Leu) n.65G>C | gnomAD v4 |
11 | g.47441667C>T | CA380329234 | RAPSN | c.856G>A (p.Val286Met) c.789+156G>A (n.789+156G>A) c.697G>A (p.Val233Met) n.65G>A | gnomAD v4 |
11 | g.47441668C>A | CA380329238 | RAPSN | c.855G>T (p.Gln285His) c.789+155G>T (n.789+155G>T) c.696G>T (p.Gln232His) n.64G>T | |
11 | g.47441668C= | CA1630848699 | RAPSN | c.855G= (p.Gln285=) c.789+155G= (n.789+155G=) c.696G= (p.Gln232=) n.64G= | |
11 | g.47441668C>G | CA380329241 | RAPSN | c.855G>C (p.Gln285His) c.789+155G>C (n.789+155G>C) c.696G>C (p.Gln232His) n.64G>C | |
11 | g.47441668C>T | CA154878 | RAPSN | c.855G>A (p.Gln285=) c.789+155G>A (n.789+155G>A) c.696G>A (p.Gln232=) n.64G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441668_47441670delinsCTG | CA1969387580 | RAPSN | c.853_855delinsCAG (p.Gln285=) c.789+153_789+155delinsCAG (n.789+153_789+155delinsCAG) c.694_696delinsCAG (p.Gln232=) n.62_64delinsCAG | |
11 | g.47441668_47441670delinsTTA | CA10603216 | RAPSN | c.853_855delinsTAA (p.Gln285Ter) c.789+153_789+155delinsTAA (n.789+153_789+155delinsTAA) c.694_696delinsTAA (p.Gln232Ter) n.62_64delinsTAA | ClinVar dbSNP |
11 | g.47441669T>A | CA380329257 | RAPSN | c.854A>T (p.Gln285Leu) c.789+154A>T (n.789+154A>T) c.695A>T (p.Gln232Leu) n.63A>T | |
11 | g.47441669T>C | CA380329263 | RAPSN | c.854A>G (p.Gln285Arg) c.789+154A>G (n.789+154A>G) c.695A>G (p.Gln232Arg) n.63A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441669T>G | CA380329267 | RAPSN | c.854A>C (p.Gln285Pro) c.789+154A>C (n.789+154A>C) c.695A>C (p.Gln232Pro) n.63A>C | |
11 | g.47441669T= | CA1969387581 | RAPSN | c.854A= (p.Gln285=) c.789+154A= (n.789+154A=) c.695A= (p.Gln232=) n.63A= | |
11 | g.47441670G>A | CA380329271 | RAPSN | c.853C>T (p.Gln285Ter) c.789+153C>T (n.789+153C>T) c.694C>T (p.Gln232Ter) n.62C>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441670G>C | CA380329272 | RAPSN | c.853C>G (p.Gln285Glu) c.789+153C>G (n.789+153C>G) c.694C>G (p.Gln232Glu) n.62C>G | |
11 | g.47441670G= | CA1969387582 | RAPSN | c.853C= (p.Gln285=) c.789+153C= (n.789+153C=) c.694C= (p.Gln232=) n.62C= | |
11 | g.47441670G>T | CA380329274 | RAPSN | c.853C>A (p.Gln285Lys) c.789+153C>A (n.789+153C>A) c.694C>A (p.Gln232Lys) n.62C>A | gnomAD v4 |
11 | g.47441671C>A | CA474218142 | RAPSN | c.852G>T (p.Gly284=) c.789+152G>T (n.789+152G>T) c.693G>T (p.Gly231=) n.61G>T | |
11 | g.47441671C>G | CA474218143 | RAPSN | c.852G>C (p.Gly284=) c.789+152G>C (n.789+152G>C) c.693G>C (p.Gly231=) n.61G>C | |
11 | g.47441671C>T | CA474218144 | RAPSN | c.852G>A (p.Gly284=) c.789+152G>A (n.789+152G>A) c.693G>A (p.Gly231=) n.61G>A | gnomAD v4 |
11 | g.47441674del | CA2613411535 | RAPSN | c.852del (p.Gln285ArgfsTer?) c.789+152del (n.789+152del) c.693del (p.Gln232ArgfsTer?) n.61del c.852del (p.Gln285ArgfsTer21) | gnomAD v4 |
11 | g.47441672C>A | CA380329278 | RAPSN | c.851G>T (p.Gly284Val) c.789+151G>T (n.789+151G>T) c.692G>T (p.Gly231Val) n.60G>T | |
11 | g.47441672C>G | CA380329290 | RAPSN | c.851G>C (p.Gly284Ala) c.789+151G>C (n.789+151G>C) c.692G>C (p.Gly231Ala) n.60G>C | |
11 | g.47441672C>T | CA380329281 | RAPSN | c.851G>A (p.Gly284Glu) c.789+151G>A (n.789+151G>A) c.692G>A (p.Gly231Glu) n.60G>A | |
11 | g.47441673C>A | CA380329293 | RAPSN | c.850G>T (p.Gly284Trp) c.789+150G>T (n.789+150G>T) c.691G>T (p.Gly231Trp) n.59G>T | |
11 | g.47441673C= | CA1969387583 | RAPSN | c.850G= (p.Gly284=) c.789+150G= (n.789+150G=) c.691G= (p.Gly231=) n.59G= | |
11 | g.47441673C>G | CA380329294 | RAPSN | c.850G>C (p.Gly284Arg) c.789+150G>C (n.789+150G>C) c.691G>C (p.Gly231Arg) n.59G>C | |
11 | g.47441673C>T | CA380329296 | RAPSN | c.850G>A (p.Gly284Arg) c.789+150G>A (n.789+150G>A) c.691G>A (p.Gly231Arg) n.59G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441674C>A | CA474218145 | RAPSN | c.849G>T (p.Leu283=) c.789+149G>T (n.789+149G>T) c.690G>T (p.Leu230=) n.58G>T | |
11 | g.47441674C= | CA1969387584 | RAPSN | c.849G= (p.Leu283=) c.789+149G= (n.789+149G=) c.690G= (p.Leu230=) n.58G= | |
11 | g.47441674C>G | CA474218146 | RAPSN | c.849G>C (p.Leu283=) c.789+149G>C (n.789+149G>C) c.690G>C (p.Leu230=) n.58G>C | |
11 | g.47441674C>T | CA474218148 | RAPSN | c.849G>A (p.Leu283=) c.789+149G>A (n.789+149G>A) c.690G>A (p.Leu230=) n.58G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441675A= | CA1969387585 | RAPSN | c.848T= (p.Leu283=) c.789+148T= (n.789+148T=) c.689T= (p.Leu230=) n.57T= | |
11 | g.47441675A>C | CA380329298 | RAPSN | c.848T>G (p.Leu283Arg) c.789+148T>G (n.789+148T>G) c.689T>G (p.Leu230Arg) n.57T>G | |
11 | g.47441675A>G | CA119255 | RAPSN | c.848T>C (p.Leu283Pro) c.789+148T>C (n.789+148T>C) c.689T>C (p.Leu230Pro) n.57T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441675A>T | CA380329330 | RAPSN | c.848T>A (p.Leu283Gln) c.789+148T>A (n.789+148T>A) c.689T>A (p.Leu230Gln) n.57T>A | |
11 | g.47441676G>A | CA474218149 | RAPSN | c.847C>T (p.Leu283=) c.789+147C>T (n.789+147C>T) c.688C>T (p.Leu230=) n.56C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441676G>C | CA5976603 | RAPSN | c.847C>G (p.Leu283Val) c.789+147C>G (n.789+147C>G) c.688C>G (p.Leu230Val) n.56C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441676G= | CA1969387586 | RAPSN | c.847C= (p.Leu283=) c.789+147C= (n.789+147C=) c.688C= (p.Leu230=) n.56C= | |
11 | g.47441676G>T | CA380329336 | RAPSN | c.847C>A (p.Leu283Met) c.789+147C>A (n.789+147C>A) c.688C>A (p.Leu230Met) n.56C>A | gnomAD v4 |
11 | g.47441677G>A | CA474218150 | RAPSN | c.846C>T (p.Arg282=) c.789+146C>T (n.789+146C>T) c.687C>T (p.Arg229=) n.55C>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441677G>C | CA474218151 | RAPSN | c.846C>G (p.Arg282=) c.789+146C>G (n.789+146C>G) c.687C>G (p.Arg229=) n.55C>G | |
11 | g.47441677G= | CA1969387587 | RAPSN | c.846C= (p.Arg282=) c.789+146C= (n.789+146C=) c.687C= (p.Arg229=) n.55C= | |
11 | g.47441677G>T | CA474218152 | RAPSN | c.846C>A (p.Arg282=) c.789+146C>A (n.789+146C>A) c.687C>A (p.Arg229=) n.55C>A | gnomAD v4 |
11 | g.47441678C>A | CA380329342 | RAPSN | c.845G>T (p.Arg282Leu) c.789+145G>T (n.789+145G>T) c.686G>T (p.Arg229Leu) n.54G>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441678C= | CA1969387588 | RAPSN | c.845G= (p.Arg282=) c.789+145G= (n.789+145G=) c.686G= (p.Arg229=) n.54G= | |
11 | g.47441678C>G | CA380329346 | RAPSN | c.845G>C (p.Arg282Pro) c.789+145G>C (n.789+145G>C) c.686G>C (p.Arg229Pro) n.54G>C | |
11 | g.47441678C>T | CA5976604 | RAPSN | c.845G>A (p.Arg282His) c.789+145G>A (n.789+145G>A) c.686G>A (p.Arg229His) n.54G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441679G>A | CA5976605 | RAPSN | c.844C>T (p.Arg282Cys) c.789+144C>T (n.789+144C>T) c.685C>T (p.Arg229Cys) n.53C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47441679G>C | CA380329356 | RAPSN | c.844C>G (p.Arg282Gly) c.789+144C>G (n.789+144C>G) c.685C>G (p.Arg229Gly) n.53C>G | |
11 | g.47441679G= | CA1969387589 | RAPSN | c.844C= (p.Arg282=) c.789+144C= (n.789+144C=) c.685C= (p.Arg229=) n.53C= | |
11 | g.47441679G>T | CA380329365 | RAPSN | c.844C>A (p.Arg282Ser) c.789+144C>A (n.789+144C>A) c.685C>A (p.Arg229Ser) n.53C>A | gnomAD v4 |
11 | g.47441680G>A | CA474218154 | RAPSN | c.843C>T (p.Asn281=) c.789+143C>T (n.789+143C>T) c.684C>T (p.Asn228=) n.52C>T | |
11 | g.47441680G>C | CA380329370 | RAPSN | c.843C>G (p.Asn281Lys) c.789+143C>G (n.789+143C>G) c.684C>G (p.Asn228Lys) n.52C>G | |
11 | g.47441680G>T | CA380329368 | RAPSN | c.843C>A (p.Asn281Lys) c.789+143C>A (n.789+143C>A) c.684C>A (p.Asn228Lys) n.52C>A | gnomAD v4 |
11 | g.47441681T>A | CA380329374 | RAPSN | c.842A>T (p.Asn281Ile) c.789+142A>T (n.789+142A>T) c.683A>T (p.Asn228Ile) n.51A>T | |
11 | g.47441681T>C | CA380329376 | RAPSN | c.842A>G (p.Asn281Ser) c.789+142A>G (n.789+142A>G) c.683A>G (p.Asn228Ser) n.51A>G | gnomAD v4 |
11 | g.47441681T>G | CA380329383 | RAPSN | c.842A>C (p.Asn281Thr) c.789+142A>C (n.789+142A>C) c.683A>C (p.Asn228Thr) n.51A>C | dbSNP |
11 | g.47441682T>A | CA380329402 | RAPSN | c.841A>T (p.Asn281Tyr) c.789+141A>T (n.789+141A>T) c.682A>T (p.Asn228Tyr) n.50A>T | |
11 | g.47441682T>C | CA380329407 | RAPSN | c.841A>G (p.Asn281Asp) c.789+141A>G (n.789+141A>G) c.682A>G (p.Asn228Asp) n.50A>G | |
11 | g.47441682T>G | CA380329423 | RAPSN | c.841A>C (p.Asn281His) c.789+141A>C (n.789+141A>C) c.682A>C (p.Asn228His) n.50A>C | gnomAD v4 |
11 | g.47441683T>A | CA474218158 | RAPSN | c.840A>T (p.Gly280=) c.789+140A>T (n.789+140A>T) c.681A>T (p.Gly227=) n.49A>T | |
11 | g.47441683T>C | CA474218160 | RAPSN | c.840A>G (p.Gly280=) c.789+140A>G (n.789+140A>G) c.681A>G (p.Gly227=) n.49A>G | gnomAD v4 |
11 | g.47441683T>G | CA474218159 | RAPSN | c.840A>C (p.Gly280=) c.789+140A>C (n.789+140A>C) c.681A>C (p.Gly227=) n.49A>C | |
11 | g.47441684C>A | CA380329453 | RAPSN | c.839G>T (p.Gly280Val) c.789+139G>T (n.789+139G>T) c.680G>T (p.Gly227Val) n.48G>T | gnomAD v4 |
11 | g.47441684C>G | CA380329433 | RAPSN | c.839G>C (p.Gly280Ala) c.789+139G>C (n.789+139G>C) c.680G>C (p.Gly227Ala) n.48G>C | |
11 | g.47441684C>T | CA380329449 | RAPSN | c.839G>A (p.Gly280Glu) c.789+139G>A (n.789+139G>A) c.680G>A (p.Gly227Glu) n.48G>A | COSMIC |
11 | g.47441685C>A | CA380329470 | RAPSN | c.838G>T (p.Gly280Ter) c.789+138G>T (n.789+138G>T) c.679G>T (p.Gly227Ter) n.47G>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441685C= | CA1969387590 | RAPSN | c.838G= (p.Gly280=) c.789+138G= (n.789+138G=) c.679G= (p.Gly227=) n.47G= | |
11 | g.47441685C>G | CA380329477 | RAPSN | c.838G>C (p.Gly280Arg) c.789+138G>C (n.789+138G>C) c.679G>C (p.Gly227Arg) n.47G>C | |
11 | g.47441685C>T | CA380329479 | RAPSN | c.838G>A (p.Gly280Arg) c.789+138G>A (n.789+138G>A) c.679G>A (p.Gly227Arg) n.47G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441686G>A | CA5976606 | RAPSN | c.837C>T (p.Ile279=) c.789+137C>T (n.789+137C>T) c.678C>T (p.Ile226=) n.46C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441686G>C | CA5976607 | RAPSN | c.837C>G (p.Ile279Met) c.789+137C>G (n.789+137C>G) c.678C>G (p.Ile226Met) n.46C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441686G= | CA1969387591 | RAPSN | c.837C= (p.Ile279=) c.789+137C= (n.789+137C=) c.678C= (p.Ile226=) n.46C= | |
11 | g.47441686G>T | CA474218162 | RAPSN | c.837C>A (p.Ile279=) c.789+137C>A (n.789+137C>A) c.678C>A (p.Ile226=) n.46C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441687A>C | CA380329504 | RAPSN | c.836T>G (p.Ile279Ser) c.789+136T>G (n.789+136T>G) c.677T>G (p.Ile226Ser) n.45T>G | |
11 | g.47441687A>G | CA380329492 | RAPSN | c.836T>C (p.Ile279Thr) c.789+136T>C (n.789+136T>C) c.677T>C (p.Ile226Thr) n.45T>C | |
11 | g.47441687A>T | CA380329501 | RAPSN | c.836T>A (p.Ile279Asn) c.789+136T>A (n.789+136T>A) c.677T>A (p.Ile226Asn) n.45T>A | |
11 | g.47441688T>A | CA380329507 | RAPSN | c.835A>T (p.Ile279Phe) c.789+135A>T (n.789+135A>T) c.676A>T (p.Ile226Phe) n.44A>T | |
11 | g.47441688T>C | CA380329539 | RAPSN | c.835A>G (p.Ile279Val) c.789+135A>G (n.789+135A>G) c.676A>G (p.Ile226Val) n.44A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441688T>G | CA380329540 | RAPSN | c.835A>C (p.Ile279Leu) c.789+135A>C (n.789+135A>C) c.676A>C (p.Ile226Leu) n.44A>C | |
11 | g.47441688T= | CA1969387592 | RAPSN | c.835A= (p.Ile279=) c.789+135A= (n.789+135A=) c.676A= (p.Ile226=) n.44A= | |
11 | g.47441689C>A | CA380329541 | RAPSN | c.834G>T (p.Glu278Asp) c.789+134G>T (n.789+134G>T) c.675G>T (p.Glu225Asp) n.43G>T | |
11 | g.47441689C>G | CA380329542 | RAPSN | c.834G>C (p.Glu278Asp) c.789+134G>C (n.789+134G>C) c.675G>C (p.Glu225Asp) n.43G>C | |
11 | g.47441689C>T | CA474218166 | RAPSN | c.834G>A (p.Glu278=) c.789+134G>A (n.789+134G>A) c.675G>A (p.Glu225=) n.43G>A | ClinVar |
11 | g.47441690T>A | CA380329545 | RAPSN | c.833A>T (p.Glu278Val) c.789+133A>T (n.789+133A>T) c.674A>T (p.Glu225Val) n.42A>T | |
11 | g.47441690T>C | CA380329549 | RAPSN | c.833A>G (p.Glu278Gly) c.789+133A>G (n.789+133A>G) c.674A>G (p.Glu225Gly) n.42A>G | |
11 | g.47441690T>G | CA380329552 | RAPSN | c.833A>C (p.Glu278Ala) c.789+133A>C (n.789+133A>C) c.674A>C (p.Glu225Ala) n.42A>C | |
11 | g.47441691C>A | CA380329555 | RAPSN | c.832G>T (p.Glu278Ter) c.789+132G>T (n.789+132G>T) c.673G>T (p.Glu225Ter) n.41G>T | gnomAD v4 |
11 | g.47441691C= | CA1969387593 | RAPSN | c.832G= (p.Glu278=) c.789+132G= (n.789+132G=) c.673G= (p.Glu225=) n.41G= | |
11 | g.47441691C>G | CA380329558 | RAPSN | c.832G>C (p.Glu278Gln) c.789+132G>C (n.789+132G>C) c.673G>C (p.Glu225Gln) n.41G>C | |
11 | g.47441691C>T | CA380329559 | RAPSN | c.832G>A (p.Glu278Lys) c.789+132G>A (n.789+132G>A) c.673G>A (p.Glu225Lys) n.41G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.47441692G>A | CA5976608 | RAPSN | c.831C>T (p.Thr277=) c.789+131C>T (n.789+131C>T) c.672C>T (p.Thr224=) n.40C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441692G>C | CA474218170 | RAPSN | c.831C>G (p.Thr277=) c.789+131C>G (n.789+131C>G) c.672C>G (p.Thr224=) n.40C>G | gnomAD v4 |
11 | g.47441692G= | CA1969387594 | RAPSN | c.831C= (p.Thr277=) c.789+131C= (n.789+131C=) c.672C= (p.Thr224=) n.40C= | |
11 | g.47441692G>T | CA474218171 | RAPSN | c.831C>A (p.Thr277=) c.789+131C>A (n.789+131C>A) c.672C>A (p.Thr224=) n.40C>A | ClinVar dbSNP gnomAD v4 |
11 | g.47441693G>A | CA380329566 | RAPSN | c.830C>T (p.Thr277Ile) c.789+130C>T (n.789+130C>T) c.671C>T (p.Thr224Ile) n.39C>T | |
11 | g.47441693G>C | CA380329564 | RAPSN | c.830C>G (p.Thr277Ser) c.789+130C>G (n.789+130C>G) c.671C>G (p.Thr224Ser) n.39C>G | |
11 | g.47441693G>T | CA380329562 | RAPSN | c.830C>A (p.Thr277Asn) c.789+130C>A (n.789+130C>A) c.671C>A (p.Thr224Asn) n.39C>A | gnomAD v4 |
11 | g.47441694T>A | CA380329574 | RAPSN | c.829A>T (p.Thr277Ser) c.789+129A>T (n.789+129A>T) c.670A>T (p.Thr224Ser) n.38A>T | |
11 | g.47441694T>C | CA351331 | RAPSN | c.829A>G (p.Thr277Ala) c.789+129A>G (n.789+129A>G) c.670A>G (p.Thr224Ala) n.38A>G | dbSNP |
11 | g.47441694T>G | CA380329582 | RAPSN | c.829A>C (p.Thr277Pro) c.789+129A>C (n.789+129A>C) c.670A>C (p.Thr224Pro) n.38A>C | |
11 | g.47441694T= | CA1969387595 | RAPSN | c.829A= (p.Thr277=) c.789+129A= (n.789+129A=) c.670A= (p.Thr224=) n.38A= | |
11 | g.47441695C>A | CA380329584 | RAPSN | c.828G>T (p.Met276Ile) c.789+128G>T (n.789+128G>T) c.669G>T (p.Met223Ile) n.37G>T | gnomAD v4 |
11 | g.47441695C>G | CA380329585 | RAPSN | c.828G>C (p.Met276Ile) c.789+128G>C (n.789+128G>C) c.669G>C (p.Met223Ile) n.37G>C | |
11 | g.47441695C>T | CA380329587 | RAPSN | c.828G>A (p.Met276Ile) c.789+128G>A (n.789+128G>A) c.669G>A (p.Met223Ile) n.37G>A | |
11 | g.47441696A>C | CA380329591 | RAPSN | c.827T>G (p.Met276Arg) c.789+127T>G (n.789+127T>G) c.668T>G (p.Met223Arg) n.36T>G | |
11 | g.47441696A>G | CA380329593 | RAPSN | c.827T>C (p.Met276Thr) c.789+127T>C (n.789+127T>C) c.668T>C (p.Met223Thr) n.36T>C | gnomAD v4 |
11 | g.47441696A>T | CA380329602 | RAPSN | c.827T>A (p.Met276Lys) c.789+127T>A (n.789+127T>A) c.668T>A (p.Met223Lys) n.36T>A | |
11 | g.47441697T>A | CA380329605 | RAPSN | c.826A>T (p.Met276Leu) c.789+126A>T (n.789+126A>T) c.667A>T (p.Met223Leu) n.35A>T | gnomAD v4 |
11 | g.47441697T>C | CA380329607 | RAPSN | c.826A>G (p.Met276Val) c.789+126A>G (n.789+126A>G) c.667A>G (p.Met223Val) n.35A>G | ClinVar gnomAD v4 |
11 | g.47441697T>G | CA380329610 | RAPSN | c.826A>C (p.Met276Leu) c.789+126A>C (n.789+126A>C) c.667A>C (p.Met223Leu) n.35A>C | |
11 | g.47441698G>A | CA474218177 | RAPSN | c.825C>T (p.Ile275=) c.789+125C>T (n.789+125C>T) c.666C>T (p.Ile222=) n.34C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441698G>C | CA380329612 | RAPSN | c.825C>G (p.Ile275Met) c.789+125C>G (n.789+125C>G) c.666C>G (p.Ile222Met) n.34C>G | |
11 | g.47441698G= | CA1969387596 | RAPSN | c.825C= (p.Ile275=) c.789+125C= (n.789+125C=) c.666C= (p.Ile222=) n.34C= | |
11 | g.47441698G>T | CA474218178 | RAPSN | c.825C>A (p.Ile275=) c.789+125C>A (n.789+125C>A) c.666C>A (p.Ile222=) n.34C>A | gnomAD v4 |
11 | g.47441699A= | CA1969387597 | RAPSN | c.824T= (p.Ile275=) c.789+124T= (n.789+124T=) c.665T= (p.Ile222=) n.33T= | |
11 | g.47441699A>C | CA5976609 | RAPSN | c.824T>G (p.Ile275Ser) c.789+124T>G (n.789+124T>G) c.665T>G (p.Ile222Ser) n.33T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441699A>G | CA221716338 | RAPSN | c.824T>C (p.Ile275Thr) c.789+124T>C (n.789+124T>C) c.665T>C (p.Ile222Thr) n.33T>C | dbSNP |
11 | g.47441699A>T | CA380329616 | RAPSN | c.824T>A (p.Ile275Asn) c.789+124T>A (n.789+124T>A) c.665T>A (p.Ile222Asn) n.33T>A | |
11 | g.47441700T>A | CA380329635 | RAPSN | c.823A>T (p.Ile275Phe) c.789+123A>T (n.789+123A>T) c.664A>T (p.Ile222Phe) n.32A>T | |
11 | g.47441700T>C | CA380329643 | RAPSN | c.823A>G (p.Ile275Val) c.789+123A>G (n.789+123A>G) c.664A>G (p.Ile222Val) n.32A>G | |
11 | g.47441700T>G | CA380329639 | RAPSN | c.823A>C (p.Ile275Leu) c.789+123A>C (n.789+123A>C) c.664A>C (p.Ile222Leu) n.32A>C | |
11 | g.47441701G>A | CA474218179 | RAPSN | c.822C>T (p.Ser274=) c.789+122C>T (n.789+122C>T) c.663C>T (p.Ser221=) n.31C>T | ClinVar gnomAD v4 |
11 | g.47441701G>C | CA380329646 | RAPSN | c.822C>G (p.Ser274Arg) c.789+122C>G (n.789+122C>G) c.663C>G (p.Ser221Arg) n.31C>G | |
11 | g.47441701G= | CA1969387598 | RAPSN | c.822C= (p.Ser274=) c.789+122C= (n.789+122C=) c.663C= (p.Ser221=) n.31C= | |
11 | g.47441701G>T | CA5976610 | RAPSN | c.822C>A (p.Ser274Arg) c.789+122C>A (n.789+122C>A) c.663C>A (p.Ser221Arg) n.31C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441702C>A | CA380329649 | RAPSN | c.821G>T (p.Ser274Ile) c.789+121G>T (n.789+121G>T) c.662G>T (p.Ser221Ile) n.30G>T | |
11 | g.47441702C= | CA1969387599 | RAPSN | c.821G= (p.Ser274=) c.789+121G= (n.789+121G=) c.662G= (p.Ser221=) n.30G= | |
11 | g.47441702C>G | CA380329652 | RAPSN | c.821G>C (p.Ser274Thr) c.789+121G>C (n.789+121G>C) c.662G>C (p.Ser221Thr) n.30G>C | |
11 | g.47441702C>T | CA5976611 | RAPSN | c.821G>A (p.Ser274Asn) c.789+121G>A (n.789+121G>A) c.662G>A (p.Ser221Asn) n.30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441703T>A | CA380329658 | RAPSN | c.820A>T (p.Ser274Cys) c.789+120A>T (n.789+120A>T) c.661A>T (p.Ser221Cys) n.29A>T | |
11 | g.47441703T>C | CA380329659 | RAPSN | c.820A>G (p.Ser274Gly) c.789+120A>G (n.789+120A>G) c.661A>G (p.Ser221Gly) n.29A>G | |
11 | g.47441703T>G | CA221716343 | RAPSN | c.820A>C (p.Ser274Arg) c.789+120A>C (n.789+120A>C) c.661A>C (p.Ser221Arg) n.29A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441703T= | CA1969387600 | RAPSN | c.820A= (p.Ser274=) c.789+120A= (n.789+120A=) c.661A= (p.Ser221=) n.29A= | |
11 | g.47441704C>A | CA380329662 | RAPSN | c.819G>T (p.Met273Ile) c.789+119G>T (n.789+119G>T) c.660G>T (p.Met220Ile) n.28G>T | |
11 | g.47441704C= | CA1969387601 | RAPSN | c.819G= (p.Met273=) c.789+119G= (n.789+119G=) c.660G= (p.Met220=) n.28G= | |
11 | g.47441704C>G | CA380329666 | RAPSN | c.819G>C (p.Met273Ile) c.789+119G>C (n.789+119G>C) c.660G>C (p.Met220Ile) n.28G>C | |
11 | g.47441704C>T | CA5976612 | RAPSN | c.819G>A (p.Met273Ile) c.789+119G>A (n.789+119G>A) c.660G>A (p.Met220Ile) n.28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441705A= | CA1969387602 | RAPSN | c.818T= (p.Met273=) c.789+118T= (n.789+118T=) c.659T= (p.Met220=) n.27T= | |
11 | g.47441705A>C | CA221716353 | RAPSN | c.818T>G (p.Met273Arg) c.789+118T>G (n.789+118T>G) c.659T>G (p.Met220Arg) n.27T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441705A>G | CA380329687 | RAPSN | c.818T>C (p.Met273Thr) c.789+118T>C (n.789+118T>C) c.659T>C (p.Met220Thr) n.27T>C | dbSNP gnomAD v4 |
11 | g.47441705A>T | CA380329685 | RAPSN | c.818T>A (p.Met273Lys) c.789+118T>A (n.789+118T>A) c.659T>A (p.Met220Lys) n.27T>A | |
11 | g.47441706T>A | CA380329699 | RAPSN | c.817A>T (p.Met273Leu) c.789+117A>T (n.789+117A>T) c.658A>T (p.Met220Leu) n.26A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441706T>C | CA380329701 | RAPSN | c.817A>G (p.Met273Val) c.789+117A>G (n.789+117A>G) c.658A>G (p.Met220Val) n.26A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441706T>G | CA380329703 | RAPSN | c.817A>C (p.Met273Leu) c.789+117A>C (n.789+117A>C) c.658A>C (p.Met220Leu) n.26A>C | ClinVar gnomAD v4 |
11 | g.47441706T= | CA1969387603 | RAPSN | c.817A= (p.Met273=) c.789+117A= (n.789+117A=) c.658A= (p.Met220=) n.26A= | |
11 | g.47441707G>A | CA5976613 | RAPSN | c.816C>T (p.Ala272=) c.789+116C>T (n.789+116C>T) c.657C>T (p.Ala219=) n.25C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441707G>C | CA474218182 | RAPSN | c.816C>G (p.Ala272=) c.789+116C>G (n.789+116C>G) c.657C>G (p.Ala219=) n.25C>G | |
11 | g.47441707G= | CA1969387604 | RAPSN | c.816C= (p.Ala272=) c.789+116C= (n.789+116C=) c.657C= (p.Ala219=) n.25C= | |
11 | g.47441707G>T | CA474218183 | RAPSN | c.816C>A (p.Ala272=) c.789+116C>A (n.789+116C>A) c.657C>A (p.Ala219=) n.25C>A | |
11 | g.47441708G>A | CA5976614 | RAPSN | c.815C>T (p.Ala272Val) c.789+115C>T (n.789+115C>T) c.656C>T (p.Ala219Val) n.24C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441708G>C | CA380329710 | RAPSN | c.815C>G (p.Ala272Gly) c.789+115C>G (n.789+115C>G) c.656C>G (p.Ala219Gly) n.24C>G | |
11 | g.47441708G= | CA1969387605 | RAPSN | c.815C= (p.Ala272=) c.789+115C= (n.789+115C=) c.656C= (p.Ala219=) n.24C= | |
11 | g.47441708G>T | CA380329713 | RAPSN | c.815C>A (p.Ala272Asp) c.789+115C>A (n.789+115C>A) c.656C>A (p.Ala219Asp) n.24C>A | gnomAD v4 |
11 | g.47441709C>A | CA5976616 | RAPSN | c.814G>T (p.Ala272Ser) c.789+114G>T (n.789+114G>T) c.655G>T (p.Ala219Ser) n.23G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441709C= | CA1969387606 | RAPSN | c.814G= (p.Ala272=) c.789+114G= (n.789+114G=) c.655G= (p.Ala219=) n.23G= | |
11 | g.47441709C>G | CA380329720 | RAPSN | c.814G>C (p.Ala272Pro) c.789+114G>C (n.789+114G>C) c.655G>C (p.Ala219Pro) n.23G>C | |
11 | g.47441709C>T | CA5976615 | RAPSN | c.814G>A (p.Ala272Thr) c.789+114G>A (n.789+114G>A) c.655G>A (p.Ala219Thr) n.23G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441710G>A | CA5976617 | RAPSN | c.813C>T (p.Ser271=) c.789+113C>T (n.789+113C>T) c.654C>T (p.Ser218=) n.22C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441710G>C | CA474218184 | RAPSN | c.813C>G (p.Ser271=) c.789+113C>G (n.789+113C>G) c.654C>G (p.Ser218=) n.22C>G | |
11 | g.47441710G= | CA1969387607 | RAPSN | c.813C= (p.Ser271=) c.789+113C= (n.789+113C=) c.654C= (p.Ser218=) n.22C= | |
11 | g.47441710G>T | CA474218185 | RAPSN | c.813C>A (p.Ser271=) c.789+113C>A (n.789+113C>A) c.654C>A (p.Ser218=) n.22C>A | |
11 | g.47441711G>A | CA380329728 | RAPSN | c.812C>T (p.Ser271Phe) c.789+112C>T (n.789+112C>T) c.653C>T (p.Ser218Phe) n.21C>T | |
11 | g.47441711G>C | CA380329725 | RAPSN | c.812C>G (p.Ser271Cys) c.789+112C>G (n.789+112C>G) c.653C>G (p.Ser218Cys) n.21C>G | |
11 | g.47441711G>T | CA380329722 | RAPSN | c.812C>A (p.Ser271Tyr) c.789+112C>A (n.789+112C>A) c.653C>A (p.Ser218Tyr) n.21C>A | |
11 | g.47441712A>C | CA380329732 | RAPSN | c.811T>G (p.Ser271Ala) c.789+111T>G (n.789+111T>G) c.652T>G (p.Ser218Ala) n.20T>G | |
11 | g.47441712A>G | CA380329733 | RAPSN | c.811T>C (p.Ser271Pro) c.789+111T>C (n.789+111T>C) c.652T>C (p.Ser218Pro) n.20T>C | |
11 | g.47441712A>T | CA380329734 | RAPSN | c.811T>A (p.Ser271Thr) c.789+111T>A (n.789+111T>A) c.652T>A (p.Ser218Thr) n.20T>A | |
11 | g.47441713G>A | CA474218187 | RAPSN | c.810C>T (p.Asp270=) c.789+110C>T (n.789+110C>T) c.651C>T (p.Asp217=) n.19C>T | |
11 | g.47441713G>C | CA380329738 | RAPSN | c.810C>G (p.Asp270Glu) c.789+110C>G (n.789+110C>G) c.651C>G (p.Asp217Glu) n.19C>G | |
11 | g.47441713G>T | CA380329740 | RAPSN | c.810C>A (p.Asp270Glu) c.789+110C>A (n.789+110C>A) c.651C>A (p.Asp217Glu) n.19C>A | gnomAD v4 |
11 | g.47441714T>A | CA380329742 | RAPSN | c.809A>T (p.Asp270Val) c.789+109A>T (n.789+109A>T) c.650A>T (p.Asp217Val) n.18A>T | |
11 | g.47441714T>C | CA380329744 | RAPSN | c.809A>G (p.Asp270Gly) c.789+109A>G (n.789+109A>G) c.650A>G (p.Asp217Gly) n.18A>G | |
11 | g.47441714T>G | CA380329745 | RAPSN | c.809A>C (p.Asp270Ala) c.789+109A>C (n.789+109A>C) c.650A>C (p.Asp217Ala) n.18A>C | |
11 | g.47441715C>A | CA380329746 | RAPSN | c.808G>T (p.Asp270Tyr) c.789+108G>T (n.789+108G>T) c.649G>T (p.Asp217Tyr) n.17G>T | gnomAD v4 |
11 | g.47441715C= | CA1969387608 | RAPSN | c.808G= (p.Asp270=) c.789+108G= (n.789+108G=) c.649G= (p.Asp217=) n.17G= | |
11 | g.47441715C>G | CA380329747 | RAPSN | c.808G>C (p.Asp270His) c.789+108G>C (n.789+108G>C) c.649G>C (p.Asp217His) n.17G>C | |
11 | g.47441715C>T | CA5976618 | RAPSN | c.808G>A (p.Asp270Asn) c.789+108G>A (n.789+108G>A) c.649G>A (p.Asp217Asn) n.17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441716G>A | CA5976619 | RAPSN | c.807C>T (p.Tyr269=) c.789+107C>T (n.789+107C>T) c.648C>T (p.Tyr216=) n.16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.47441716G>C | CA380329750 | RAPSN | c.807C>G (p.Tyr269Ter) c.789+107C>G (n.789+107C>G) c.648C>G (p.Tyr216Ter) n.16C>G | |
11 | g.47441716G= | CA1969387609 | RAPSN | c.807C= (p.Tyr269=) c.789+107C= (n.789+107C=) c.648C= (p.Tyr216=) n.16C= | |
11 | g.47441716G>T | CA119253 | RAPSN | c.807C>A (p.Tyr269Ter) c.789+107C>A (n.789+107C>A) c.648C>A (p.Tyr216Ter) n.16C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441717T>A | CA380329752 | RAPSN | c.806A>T (p.Tyr269Phe) c.789+106A>T (n.789+106A>T) c.647A>T (p.Tyr216Phe) n.15A>T | gnomAD v4 |
11 | g.47441717T>C | CA380329753 | RAPSN | c.806A>G (p.Tyr269Cys) c.789+106A>G (n.789+106A>G) c.647A>G (p.Tyr216Cys) n.15A>G | |
11 | g.47441717T>G | CA380329756 | RAPSN | c.806A>C (p.Tyr269Ser) c.789+106A>C (n.789+106A>C) c.647A>C (p.Tyr216Ser) n.15A>C | |
11 | g.47441718A>C | CA380329764 | RAPSN | c.805T>G (p.Tyr269Asp) c.789+105T>G (n.789+105T>G) c.646T>G (p.Tyr216Asp) n.14T>G | |
11 | g.47441718A>G | CA380329767 | RAPSN | c.805T>C (p.Tyr269His) c.789+105T>C (n.789+105T>C) c.646T>C (p.Tyr216His) n.14T>C | |
11 | g.47441718A>T | CA380329768 | RAPSN | c.805T>A (p.Tyr269Asn) c.789+105T>A (n.789+105T>A) c.646T>A (p.Tyr216Asn) n.14T>A | |
11 | g.47441719C>A | CA380329769 | RAPSN | c.804G>T (p.Arg268Ser) c.789+104G>T (n.789+104G>T) c.645G>T (p.Arg215Ser) n.13G>T | |
11 | g.47441719C>G | CA380329770 | RAPSN | c.804G>C (p.Arg268Ser) c.789+104G>C (n.789+104G>C) c.645G>C (p.Arg215Ser) n.13G>C | |
11 | g.47441719C>T | CA474218191 | RAPSN | c.804G>A (p.Arg268=) c.789+104G>A (n.789+104G>A) c.645G>A (p.Arg215=) n.13G>A | |
11 | g.47441720C>A | CA380329772 | RAPSN | c.803G>T (p.Arg268Met) c.789+103G>T (n.789+103G>T) c.644G>T (p.Arg215Met) n.12G>T | ClinVar |
11 | g.47441720C= | CA1969387610 | RAPSN | c.803G= (p.Arg268=) c.789+103G= (n.789+103G=) c.644G= (p.Arg215=) n.12G= | |
11 | g.47441720C>G | CA380329774 | RAPSN | c.803G>C (p.Arg268Thr) c.789+103G>C (n.789+103G>C) c.644G>C (p.Arg215Thr) n.12G>C | |
11 | g.47441720C>T | CA380329776 | RAPSN | c.803G>A (p.Arg268Lys) c.789+103G>A (n.789+103G>A) c.644G>A (p.Arg215Lys) n.12G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441721T>A | CA380329779 | RAPSN | c.802A>T (p.Arg268Trp) c.789+102A>T (n.789+102A>T) c.643A>T (p.Arg215Trp) n.11A>T | |
11 | g.47441721T>C | CA380329783 | RAPSN | c.802A>G (p.Arg268Gly) c.789+102A>G (n.789+102A>G) c.643A>G (p.Arg215Gly) n.11A>G | |
11 | g.47441721T>G | CA474218195 | RAPSN | c.802A>C (p.Arg268=) c.789+102A>C (n.789+102A>C) c.643A>C (p.Arg215=) n.11A>C | |
11 | g.47441722G>A | CA474218196 | RAPSN | c.801C>T (p.Pro267=) c.789+101C>T (n.789+101C>T) c.642C>T (p.Pro214=) n.10C>T | |
11 | g.47441722G>C | CA474218197 | RAPSN | c.801C>G (p.Pro267=) c.789+101C>G (n.789+101C>G) c.642C>G (p.Pro214=) n.10C>G | |
11 | g.47441722G>T | CA474218198 | RAPSN | c.801C>A (p.Pro267=) c.789+101C>A (n.789+101C>A) c.642C>A (p.Pro214=) n.10C>A | gnomAD v4 |
11 | g.47441724_47441725dup | CA2613411825 | RAPSN | c.800_801dup (p.Arg268ProfsTer7) c.789+100_789+101dup (n.789+100_789+101dup) c.641_642dup (p.Arg215ProfsTer7) n.9_10dup | gnomAD v4 |
11 | g.47441725del | CA2613411828 | RAPSN | c.801del (p.Arg268GlyfsTer6) c.789+101del (n.789+101del) c.642del (p.Arg215GlyfsTer6) n.10del | gnomAD v4 |
11 | g.47441723G>A | CA380329787 | RAPSN | c.800C>T (p.Pro267Leu) c.789+100C>T (n.789+100C>T) c.641C>T (p.Pro214Leu) n.9C>T | |
11 | g.47441723G>C | CA380329790 | RAPSN | c.800C>G (p.Pro267Arg) c.789+100C>G (n.789+100C>G) c.641C>G (p.Pro214Arg) n.9C>G | |
11 | g.47441723G>T | CA380329785 | RAPSN | c.800C>A (p.Pro267His) c.789+100C>A (n.789+100C>A) c.641C>A (p.Pro214His) n.9C>A | gnomAD v4 |
11 | g.47441724G>A | CA380329800 | RAPSN | c.799C>T (p.Pro267Ser) c.789+99C>T (n.789+99C>T) c.640C>T (p.Pro214Ser) n.8C>T | ClinVar |
11 | g.47441724G>C | CA380329793 | RAPSN | c.799C>G (p.Pro267Ala) c.789+99C>G (n.789+99C>G) c.640C>G (p.Pro214Ala) n.8C>G | |
11 | g.47441724G>T | CA380329796 | RAPSN | c.799C>A (p.Pro267Thr) c.789+99C>A (n.789+99C>A) c.640C>A (p.Pro214Thr) n.8C>A | gnomAD v4 |
11 | g.47441725G>A | CA474218200 | RAPSN | c.798C>T (p.Phe266=) c.789+98C>T (n.789+98C>T) c.639C>T (p.Phe213=) n.7C>T | ClinVar dbSNP gnomAD v2 |
11 | g.47441725G>C | CA380329802 | RAPSN | c.798C>G (p.Phe266Leu) c.789+98C>G (n.789+98C>G) c.639C>G (p.Phe213Leu) n.7C>G | |
11 | g.47441725G= | CA1969387611 | RAPSN | c.798C= (p.Phe266=) c.789+98C= (n.789+98C=) c.639C= (p.Phe213=) n.7C= | |
11 | g.47441725G>T | CA380329804 | RAPSN | c.798C>A (p.Phe266Leu) c.789+98C>A (n.789+98C>A) c.639C>A (p.Phe213Leu) n.7C>A | gnomAD v4 |
11 | g.47441726A>C | CA380329806 | RAPSN | c.797T>G (p.Phe266Cys) c.789+97T>G (n.789+97T>G) c.638T>G (p.Phe213Cys) n.6T>G | |
11 | g.47441726A>G | CA380329808 | RAPSN | c.797T>C (p.Phe266Ser) c.789+97T>C (n.789+97T>C) c.638T>C (p.Phe213Ser) n.6T>C | gnomAD v4 COSMIC |
11 | g.47441726A>T | CA380329812 | RAPSN | c.797T>A (p.Phe266Tyr) c.789+97T>A (n.789+97T>A) c.638T>A (p.Phe213Tyr) n.6T>A | |
11 | g.47441727del | CA2613411846 | RAPSN | c.797del (p.Phe266SerfsTer8) c.789+97del (n.789+97del) c.638del (p.Phe213SerfsTer8) n.6del | gnomAD v4 |
11 | g.47441727A>C | CA380329815 | RAPSN | c.796T>G (p.Phe266Val) c.789+96T>G (n.789+96T>G) c.637T>G (p.Phe213Val) n.5T>G | gnomAD v4 |
11 | g.47441727A>G | CA380329816 | RAPSN | c.796T>C (p.Phe266Leu) c.789+96T>C (n.789+96T>C) c.637T>C (p.Phe213Leu) n.5T>C | |
11 | g.47441727A>T | CA380329818 | RAPSN | c.796T>A (p.Phe266Ile) c.789+96T>A (n.789+96T>A) c.637T>A (p.Phe213Ile) n.5T>A | |
11 | g.47441728G>A | CA474218202 | RAPSN | c.795C>T (p.Ala265=) c.789+95C>T (n.789+95C>T) c.636C>T (p.Ala212=) n.4C>T | |
11 | g.47441728G>C | CA474218203 | RAPSN | c.795C>G (p.Ala265=) c.789+95C>G (n.789+95C>G) c.636C>G (p.Ala212=) n.4C>G | dbSNP gnomAD v2 |
11 | g.47441728G= | CA1969387612 | RAPSN | c.795C= (p.Ala265=) c.789+95C= (n.789+95C=) c.636C= (p.Ala212=) n.4C= | |
11 | g.47441728G>T | CA474218204 | RAPSN | c.795C>A (p.Ala265=) c.789+95C>A (n.789+95C>A) c.636C>A (p.Ala212=) n.4C>A | gnomAD v4 |
11 | g.47441729dup | CA2695213977 | RAPSN | c.795dup (p.Phe266LeufsTer?) c.789+95dup (n.789+95dup) c.636dup (p.Phe213LeufsTer?) n.4dup | |
11 | g.47441729G>A | CA380329822 | RAPSN | c.794C>T (p.Ala265Val) c.789+94C>T (n.789+94C>T) c.635C>T (p.Ala212Val) n.3C>T | ClinVar dbSNP gnomAD v4 |
11 | g.47441729G>C | CA380329823 | RAPSN | c.794C>G (p.Ala265Gly) c.789+94C>G (n.789+94C>G) c.635C>G (p.Ala212Gly) n.3C>G | |
11 | g.47441729G= | CA1969387613 | RAPSN | c.794C= (p.Ala265=) c.789+94C= (n.789+94C=) c.635C= (p.Ala212=) n.3C= | |
11 | g.47441729G>T | CA221716423 | RAPSN | c.794C>A (p.Ala265Asp) c.789+94C>A (n.789+94C>A) c.635C>A (p.Ala212Asp) n.3C>A | dbSNP gnomAD v4 COSMIC |
11 | g.47441730C>A | CA380329824 | RAPSN | c.793G>T (p.Ala265Ser) c.789+93G>T (n.789+93G>T) c.634G>T (p.Ala212Ser) n.2G>T | gnomAD v4 |
11 | g.47441730C= | CA1969387614 | RAPSN | c.793G= (p.Ala265=) c.789+93G= (n.789+93G=) c.634G= (p.Ala212=) n.2G= | |
11 | g.47441730C>G | CA380329825 | RAPSN | c.793G>C (p.Ala265Pro) c.789+93G>C (n.789+93G>C) c.634G>C (p.Ala212Pro) n.2G>C | |
11 | g.47441730C>T | CA5976620 | RAPSN | c.793G>A (p.Ala265Thr) c.789+93G>A (n.789+93G>A) c.634G>A (p.Ala212Thr) n.2G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441731T>A | CA474218207 | RAPSN | c.792A>T (p.Thr264=) c.789+92A>T (n.789+92A>T) c.633A>T (p.Thr211=) n.1A>T | |
11 | g.47441731T>C | CA474218205 | RAPSN | c.792A>G (p.Thr264=) c.789+92A>G (n.789+92A>G) c.633A>G (p.Thr211=) n.1A>G | |
11 | g.47441731T>G | CA474218206 | RAPSN | c.792A>C (p.Thr264=) c.789+92A>C (n.789+92A>C) c.633A>C (p.Thr211=) n.1A>C | |
11 | g.47441732G>A | CA5976621 | RAPSN | c.791C>T (p.Thr264Ile) c.789+91C>T (n.789+91C>T) c.632C>T (p.Thr211Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441732G>C | CA380329827 | RAPSN | c.791C>G (p.Thr264Arg) c.789+91C>G (n.789+91C>G) c.632C>G (p.Thr211Arg) | |
11 | g.47441732G= | CA1969387615 | RAPSN | c.791C= (p.Thr264=) c.789+91C= (n.789+91C=) c.632C= (p.Thr211=) | |
11 | g.47441732G>T | CA380329828 | RAPSN | c.791C>A (p.Thr264Lys) c.789+91C>A (n.789+91C>A) c.632C>A (p.Thr211Lys) | gnomAD v4 |
11 | g.47441733T>A | CA380329832 | RAPSN | c.790A>T (p.Thr264Ser) c.789+90A>T (n.789+90A>T) c.631A>T (p.Thr211Ser) | |
11 | g.47441733T>C | CA380329834 | RAPSN | c.790A>G (p.Thr264Ala) c.789+90A>G (n.789+90A>G) c.631A>G (p.Thr211Ala) | gnomAD v4 |
11 | g.47441733T>G | CA380329836 | RAPSN | c.790A>C (p.Thr264Pro) c.789+90A>C (n.789+90A>C) c.631A>C (p.Thr211Pro) | |
11 | g.47441734C>A | CA380329838 | RAPSN | c.790-1G>T (n.790-1G>T) c.789+89G>T (n.789+89G>T) c.631-1G>T (n.631-1G>T) | |
11 | g.47441734C>G | CA380329844 | RAPSN | c.790-1G>C (n.790-1G>C) c.789+89G>C (n.789+89G>C) c.631-1G>C (n.631-1G>C) | |
11 | g.47441734C>T | CA380329841 | RAPSN | c.790-1G>A (n.790-1G>A) c.789+89G>A (n.789+89G>A) c.631-1G>A (n.631-1G>A) | |
11 | g.47441735T>A | CA380329849 | RAPSN | c.790-2A>T (n.790-2A>T) c.789+88A>T (n.789+88A>T) c.631-2A>T (n.631-2A>T) | |
11 | g.47441735T>C | CA380329852 | RAPSN | c.790-2A>G (n.790-2A>G) c.789+88A>G (n.789+88A>G) c.631-2A>G (n.631-2A>G) | gnomAD v4 |
11 | g.47441735T>G | CA380329854 | RAPSN | c.790-2A>C (n.790-2A>C) c.789+88A>C (n.789+88A>C) c.631-2A>C (n.631-2A>C) | |
11 | g.47441736G>A | CA2613411936 | RAPSN | c.790-3C>T (n.790-3C>T) c.789+87C>T (n.789+87C>T) c.631-3C>T (n.631-3C>T) | gnomAD v4 |
11 | g.47441736G= | CA1969387616 | RAPSN | c.790-3C= (n.790-3C=) c.789+87C= (n.789+87C=) c.631-3C= (n.631-3C=) | |
11 | g.47441736G>T | CA645579422 | RAPSN | c.790-3C>A (n.790-3C>A) c.789+87C>A (n.789+87C>A) c.631-3C>A (n.631-3C>A) | dbSNP gnomAD v4 COSMIC |
11 | g.47441737C>A | CA2613411940 | RAPSN | c.790-4G>T (n.790-4G>T) c.789+86G>T (n.789+86G>T) c.631-4G>T (n.631-4G>T) | gnomAD v4 |
11 | g.47441737C= | CA1969387617 | RAPSN | c.790-4G= (n.790-4G=) c.789+86G= (n.789+86G=) c.631-4G= (n.631-4G=) | |
11 | g.47441737C>G | CA599374775 | RAPSN | c.790-4G>C (n.790-4G>C) c.789+86G>C (n.789+86G>C) c.631-4G>C (n.631-4G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441737C>T | CA599374776 | RAPSN | c.790-4G>A (n.790-4G>A) c.789+86G>A (n.789+86G>A) c.631-4G>A (n.631-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441738A= | CA1969387618 | RAPSN | c.790-5T= (n.790-5T=) c.789+85T= (n.789+85T=) c.631-5T= (n.631-5T=) | |
11 | g.47441738A>G | CA5976622 | RAPSN | c.790-5T>C (n.790-5T>C) c.789+85T>C (n.789+85T>C) c.631-5T>C (n.631-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441739G>A | CA2499221051 | RAPSN | c.790-6C>T (n.790-6C>T) c.789+84C>T (n.789+84C>T) c.631-6C>T (n.631-6C>T) | ClinVar dbSNP |
11 | g.47441739G>C | CA1969387620 | RAPSN | c.790-6C>G (n.790-6C>G) c.789+84C>G (n.789+84C>G) c.631-6C>G (n.631-6C>G) | dbSNP gnomAD v4 |
11 | g.47441739G= | CA1969387619 | RAPSN | c.790-6C= (n.790-6C=) c.789+84C= (n.789+84C=) c.631-6C= (n.631-6C=) | |
11 | g.47441739G>T | CA2613411974 | RAPSN | c.790-6C>A (n.790-6C>A) c.789+84C>A (n.789+84C>A) c.631-6C>A (n.631-6C>A) | gnomAD v4 |
11 | g.47441741G>A | CA2613411981 | RAPSN | c.790-8C>T (n.790-8C>T) c.789+82C>T (n.789+82C>T) c.631-8C>T (n.631-8C>T) | gnomAD v4 |
11 | g.47441742C>G | CA2580084183 | RAPSN | c.790-9G>C (n.790-9G>C) c.789+81G>C (n.789+81G>C) c.631-9G>C (n.631-9G>C) | ClinVar |
11 | g.47441743C>A | CA2530752540 | RAPSN | c.790-10G>T (n.790-10G>T) c.789+80G>T (n.789+80G>T) c.631-10G>T (n.631-10G>T) | |
11 | g.47441744A>G | CA2557922638 | RAPSN | c.790-11T>C (n.790-11T>C) c.789+79T>C (n.789+79T>C) c.631-11T>C (n.631-11T>C) | gnomAD v4 |
11 | g.47441745G>C | CA2740093736 | RAPSN | c.790-12C>G (n.790-12C>G) c.789+78C>G (n.789+78C>G) c.631-12C>G (n.631-12C>G) | ClinVar |
11 | g.47441745G>T | CA2613411992 | RAPSN | c.790-12C>A (n.790-12C>A) c.789+78C>A (n.789+78C>A) c.631-12C>A (n.631-12C>A) | gnomAD v4 |
11 | g.47441746G>A | CA5976623 | RAPSN | c.790-13C>T (n.790-13C>T) c.789+77C>T (n.789+77C>T) c.631-13C>T (n.631-13C>T) | ClinVar dbSNP ExAC gnomAD v4 |
11 | g.47441746G= | CA1969387621 | RAPSN | c.790-13C= (n.790-13C=) c.789+77C= (n.789+77C=) c.631-13C= (n.631-13C=) | |
11 | g.47441746G>T | CA221716428 | RAPSN | c.790-13C>A (n.790-13C>A) c.789+77C>A (n.789+77C>A) c.631-13C>A (n.631-13C>A) | dbSNP gnomAD v4 |
11 | g.47441747dup | CA2563254536 | RAPSN | c.790-14dup (n.790-14dup) c.789+76dup (n.789+76dup) c.631-14dup (n.631-14dup) | |
11 | g.47441748G>A | CA1969387622 | RAPSN | c.790-15C>T (n.790-15C>T) c.789+75C>T (n.789+75C>T) c.631-15C>T (n.631-15C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47441748G>C | CA5976624 | RAPSN | c.790-15C>G (n.790-15C>G) c.789+75C>G (n.789+75C>G) c.631-15C>G (n.631-15C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441748G= | CA1969387623 | RAPSN | c.790-15C= (n.790-15C=) c.789+75C= (n.789+75C=) c.631-15C= (n.631-15C=) | |
11 | g.47441748G>T | CA599374777 | RAPSN | c.790-15C>A (n.790-15C>A) c.789+75C>A (n.789+75C>A) c.631-15C>A (n.631-15C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441752del | CA2613412012 | RAPSN | c.790-15del (n.790-15del) c.789+75del (n.789+75del) c.631-15del (n.631-15del) | gnomAD v4 |
11 | g.47441749G>T | CA2613412043 | RAPSN | c.790-16C>A (n.790-16C>A) c.789+74C>A (n.789+74C>A) c.631-16C>A (n.631-16C>A) | gnomAD v4 |
11 | g.47441750G>A | CA2740093737 | RAPSN | c.790-17C>T (n.790-17C>T) c.789+73C>T (n.789+73C>T) c.631-17C>T (n.631-17C>T) | ClinVar |
11 | g.47441750G>C | CA599374778 | RAPSN | c.790-17C>G (n.790-17C>G) c.789+73C>G (n.789+73C>G) c.631-17C>G (n.631-17C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441750G= | CA1969387624 | RAPSN | c.790-17C= (n.790-17C=) c.789+73C= (n.789+73C=) c.631-17C= (n.631-17C=) | |
11 | g.47441750G>T | CA2613412049 | RAPSN | c.790-17C>A (n.790-17C>A) c.789+73C>A (n.789+73C>A) c.631-17C>A (n.631-17C>A) | gnomAD v4 |
11 | g.47441751G>T | CA2613412054 | RAPSN | c.790-18C>A (n.790-18C>A) c.789+72C>A (n.789+72C>A) c.631-18C>A (n.631-18C>A) | gnomAD v4 |
11 | g.47441752G>A | CA2613412060 | RAPSN | c.790-19C>T (n.790-19C>T) c.789+71C>T (n.789+71C>T) c.631-19C>T (n.631-19C>T) | gnomAD v4 |
11 | g.47441752G= | CA1969387625 | RAPSN | c.790-19C= (n.790-19C=) c.789+71C= (n.789+71C=) c.631-19C= (n.631-19C=) | |
11 | g.47441752G>T | CA5976625 | RAPSN | c.790-19C>A (n.790-19C>A) c.789+71C>A (n.789+71C>A) c.631-19C>A (n.631-19C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441753A>G | CA2613412067 | RAPSN | c.790-20T>C (n.790-20T>C) c.789+70T>C (n.789+70T>C) c.631-20T>C (n.631-20T>C) | gnomAD v4 |
11 | g.47441753A>T | CA2517028081 | RAPSN | c.790-20T>A (n.790-20T>A) c.789+70T>A (n.789+70T>A) c.631-20T>A (n.631-20T>A) | |
11 | g.47441754T>C | CA937663682 | RAPSN | c.790-21A>G (n.790-21A>G) c.789+69A>G (n.789+69A>G) c.631-21A>G (n.631-21A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441754T= | CA1969387626 | RAPSN | c.790-21A= (n.790-21A=) c.789+69A= (n.789+69A=) c.631-21A= (n.631-21A=) | |
11 | g.47441755G>T | CA2613412072 | RAPSN | c.790-22C>A (n.790-22C>A) c.789+68C>A (n.789+68C>A) c.631-22C>A (n.631-22C>A) | gnomAD v4 |
11 | g.47441756G>A | CA2574817143 | RAPSN | c.790-23C>T (n.790-23C>T) c.789+67C>T (n.789+67C>T) c.631-23C>T (n.631-23C>T) | gnomAD v4 |
11 | g.47441756G>C | CA599374779 | RAPSN | c.790-23C>G (n.790-23C>G) c.789+67C>G (n.789+67C>G) c.631-23C>G (n.631-23C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441756G= | CA1969387627 | RAPSN | c.790-23C= (n.790-23C=) c.789+67C= (n.789+67C=) c.631-23C= (n.631-23C=) | |
11 | g.47441756G>T | CA2613412074 | RAPSN | c.790-23C>A (n.790-23C>A) c.789+67C>A (n.789+67C>A) c.631-23C>A (n.631-23C>A) | gnomAD v4 |
11 | g.47441757A>C | CA2791336097 | RAPSN | c.790-24T>G (n.790-24T>G) c.789+66T>G (n.789+66T>G) c.631-24T>G (n.631-24T>G) | |
11 | g.47441757A>G | CA2538212489 | RAPSN | c.790-24T>C (n.790-24T>C) c.789+66T>C (n.789+66T>C) c.631-24T>C (n.631-24T>C) | |
11 | g.47441758A>C | CA2613412076 | RAPSN | c.790-25T>G (n.790-25T>G) c.789+65T>G (n.789+65T>G) c.631-25T>G (n.631-25T>G) | gnomAD v4 |
11 | g.47441760C>A | CA2613412077 | RAPSN | c.790-27G>T (n.790-27G>T) c.789+63G>T (n.789+63G>T) c.631-27G>T (n.631-27G>T) | gnomAD v4 |
11 | g.47441760C= | CA1969387628 | RAPSN | c.790-27G= (n.790-27G=) c.789+63G= (n.789+63G=) c.631-27G= (n.631-27G=) | |
11 | g.47441760C>T | CA599374780 | RAPSN | c.790-27G>A (n.790-27G>A) c.789+63G>A (n.789+63G>A) c.631-27G>A (n.631-27G>A) | dbSNP gnomAD v2 |
11 | g.47441761A= | CA1969387629 | RAPSN | c.790-28T= (n.790-28T=) c.789+62T= (n.789+62T=) c.631-28T= (n.631-28T=) | |
11 | g.47441761A>C | CA937663686 | RAPSN | c.790-28T>G (n.790-28T>G) c.789+62T>G (n.789+62T>G) c.631-28T>G (n.631-28T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441761A>G | CA2613412079 | RAPSN | c.790-28T>C (n.790-28T>C) c.789+62T>C (n.789+62T>C) c.631-28T>C (n.631-28T>C) | gnomAD v4 |