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 |
|---|---|---|---|---|---|
| 8 | g.142917754A= | CA1825517365 | CYP11B2 | c.87T= (p.Ala29=) | |
| 8 | g.142917754A>C | CA463506397 | CYP11B2 | c.87T>G (p.Ala29=) | |
| 8 | g.142917754A>G | CA463506399 | CYP11B2 | c.87T>C (p.Ala29=) | dbSNP gnomAD v2 |
| 8 | g.142917754A>T | CA463506398 | CYP11B2 | c.87T>A (p.Ala29=) | |
| 8 | g.142917755G>A | CA372394022 | CYP11B2 | c.86C>T (p.Ala29Val) | |
| 8 | g.142917755G>C | CA372394024 | CYP11B2 | c.86C>G (p.Ala29Gly) | |
| 8 | g.142917755G>T | CA372394027 | CYP11B2 | c.86C>A (p.Ala29Asp) | |
| 8 | g.142917756C>A | CA372394030 | CYP11B2 | c.85G>T (p.Ala29Ser) | |
| 8 | g.142917756C= | CA1825517366 | CYP11B2 | c.85G= (p.Ala29=) | |
| 8 | g.142917756C>G | CA372394031 | CYP11B2 | c.85G>C (p.Ala29Pro) | |
| 8 | g.142917756C>T | CA4906378 | CYP11B2 | c.85G>A (p.Ala29Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142917757G>A | CA4906379 | CYP11B2 | c.84C>T (p.Ala28=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142917757G>C | CA463506400 | CYP11B2 | c.84C>G (p.Ala28=) | |
| 8 | g.142917757G= | CA1825517367 | CYP11B2 | c.84C= (p.Ala28=) | |
| 8 | g.142917757G>T | CA463506401 | CYP11B2 | c.84C>A (p.Ala28=) | |
| 8 | g.142917758G>A | CA4906380 | CYP11B2 | c.83C>T (p.Ala28Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142917758G>C | CA372394034 | CYP11B2 | c.83C>G (p.Ala28Gly) | |
| 8 | g.142917758G= | CA1825517368 | CYP11B2 | c.83C= (p.Ala28=) | |
| 8 | g.142917758G>T | CA372394035 | CYP11B2 | c.83C>A (p.Ala28Asp) | |
| 8 | g.142917759C>A | CA372394043 | CYP11B2 | c.82G>T (p.Ala28Ser) | |
| 8 | g.142917759C= | CA1825517369 | CYP11B2 | c.82G= (p.Ala28=) | |
| 8 | g.142917759C>G | CA372394041 | CYP11B2 | c.82G>C (p.Ala28Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142917759C>T | CA372394038 | CYP11B2 | c.82G>A (p.Ala28Thr) | dbSNP gnomAD v4 |
| 8 | g.142917760T>A | CA372394046 | CYP11B2 | c.81A>T (p.Arg27Ser) | |
| 8 | g.142917760T>C | CA463506402 | CYP11B2 | c.81A>G (p.Arg27=) | |
| 8 | g.142917760T>G | CA372394048 | CYP11B2 | c.81A>C (p.Arg27Ser) | |
| 8 | g.142917761C>A | CA372394054 | CYP11B2 | c.80G>T (p.Arg27Ile) | |
| 8 | g.142917761C>G | CA372394057 | CYP11B2 | c.80G>C (p.Arg27Thr) | |
| 8 | g.142917761C>T | CA372394056 | CYP11B2 | c.80G>A (p.Arg27Lys) | |
| 8 | g.142917762T>A | CA372394060 | CYP11B2 | c.79A>T (p.Arg27Ter) | ClinVar |
| 8 | g.142917762T>C | CA4906381 | CYP11B2 | c.79A>G (p.Arg27Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917762T>G | CA463506403 | CYP11B2 | c.79A>C (p.Arg27=) | |
| 8 | g.142917762T= | CA1825517370 | CYP11B2 | c.79A= (p.Arg27=) | |
| 8 | g.142917763A= | CA1825517371 | CYP11B2 | c.78T= (p.Thr26=) | |
| 8 | g.142917763A>C | CA4906382 | CYP11B2 | c.78T>G (p.Thr26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917763A>G | CA463506404 | CYP11B2 | c.78T>C (p.Thr26=) | gnomAD v4 |
| 8 | g.142917763A>T | CA463506405 | CYP11B2 | c.78T>A (p.Thr26=) | |
| 8 | g.142917770_142917776dup | CA2688874588 | CYP11B2 | c.72_78dup (p.Arg27GlyfsTer3) | gnomAD v4 |
| 8 | g.142917764G>A | CA372394070 | CYP11B2 | c.77C>T (p.Thr26Ile) | gnomAD v4 |
| 8 | g.142917764G>C | CA372394067 | CYP11B2 | c.77C>G (p.Thr26Ser) | dbSNP gnomAD v4 |
| 8 | g.142917764G= | CA1825517372 | CYP11B2 | c.77C= (p.Thr26=) | |
| 8 | g.142917764G>T | CA372394069 | CYP11B2 | c.77C>A (p.Thr26Asn) | |
| 8 | g.142917770_142917782del | CA2579268526 | CYP11B2 | c.65_77del (p.Arg22LeufsTer25) | ClinVar gnomAD v4 |
| 8 | g.142917765T>A | CA372394073 | CYP11B2 | c.76A>T (p.Thr26Ser) | |
| 8 | g.142917765T>C | CA372394078 | CYP11B2 | c.76A>G (p.Thr26Ala) | |
| 8 | g.142917765T>G | CA372394079 | CYP11B2 | c.76A>C (p.Thr26Pro) | |
| 8 | g.142917766G>A | CA463506406 | CYP11B2 | c.75C>T (p.Gly25=) | gnomAD v4 |
| 8 | g.142917766G>C | CA463506408 | CYP11B2 | c.75C>G (p.Gly25=) | |
| 8 | g.142917766G= | CA1825517373 | CYP11B2 | c.75C= (p.Gly25=) | |
| 8 | g.142917766G>T | CA463506407 | CYP11B2 | c.75C>A (p.Gly25=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917767C>A | CA372394081 | CYP11B2 | c.74G>T (p.Gly25Val) | |
| 8 | g.142917767C>G | CA372394083 | CYP11B2 | c.74G>C (p.Gly25Ala) | |
| 8 | g.142917767C>T | CA372394085 | CYP11B2 | c.74G>A (p.Gly25Asp) | gnomAD v4 |
| 8 | g.142917768C>A | CA372394091 | CYP11B2 | c.73G>T (p.Gly25Cys) | |
| 8 | g.142917768C>G | CA372394094 | CYP11B2 | c.73G>C (p.Gly25Arg) | gnomAD v4 |
| 8 | g.142917768C>T | CA372394096 | CYP11B2 | c.73G>A (p.Gly25Ser) | |
| 8 | g.142917769C>A | CA463506409 | CYP11B2 | c.72G>T (p.Leu24=) | |
| 8 | g.142917769C= | CA1825517374 | CYP11B2 | c.72G= (p.Leu24=) | |
| 8 | g.142917769C>G | CA463506410 | CYP11B2 | c.72G>C (p.Leu24=) | |
| 8 | g.142917769C>T | CA4906383 | CYP11B2 | c.72G>A (p.Leu24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917769_142917770insGGGGCCCG | CA2688874604 | CYP11B2 | c.71_72insCGGGCCCC (p.Thr26ProfsTer28) | gnomAD v4 |
| 8 | g.142917770A= | CA1825517375 | CYP11B2 | c.71T= (p.Leu24=) | |
| 8 | g.142917770A>C | CA372394108 | CYP11B2 | c.71T>G (p.Leu24Arg) | |
| 8 | g.142917770A>G | CA4906384 | CYP11B2 | c.71T>C (p.Leu24Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142917770A>T | CA372394101 | CYP11B2 | c.71T>A (p.Leu24Gln) | |
| 8 | g.142917771G>A | CA463506411 | CYP11B2 | c.70C>T (p.Leu24=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.142917771G>C | CA372394110 | CYP11B2 | c.70C>G (p.Leu24Val) | |
| 8 | g.142917771G= | CA1825517377 | CYP11B2 | c.70C= (p.Leu24=) | |
| 8 | g.142917771G>T | CA372394113 | CYP11B2 | c.70C>A (p.Leu24Met) | |
| 8 | g.142917771_142917784delinsGTGCCCGTGCCCTT | CA1825517376 | CYP11B2 | c.57_70delinsAAGGGCACGGGCAC (p.Gln19=) | |
| 8 | g.142917771_142917772insCGGCTCTAGTGCCCAT | CA2688874609 | CYP11B2 | c.69_70insATGGGCACTAGAGCCG (p.Leu24MetfsTer9) | gnomAD v4 |
| 8 | g.142917772T>A | CA463506412 | CYP11B2 | c.69A>T (p.Ala23=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142917772T>C | CA463506413 | CYP11B2 | c.69A>G (p.Ala23=) | |
| 8 | g.142917772T>G | CA463506414 | CYP11B2 | c.69A>C (p.Ala23=) | |
| 8 | g.142917772T= | CA1825517378 | CYP11B2 | c.69A= (p.Ala23=) | |
| 8 | g.142917775_142917787del | CA918388013 | CYP11B2 | c.57_69del (p.Gln19HisfsTer28) | dbSNP |
| 8 | g.142917773G>A | CA372394119 | CYP11B2 | c.68C>T (p.Ala23Val) | dbSNP gnomAD v4 COSMIC |
| 8 | g.142917773G>C | CA372394122 | CYP11B2 | c.68C>G (p.Ala23Gly) | |
| 8 | g.142917773G= | CA1825517379 | CYP11B2 | c.68C= (p.Ala23=) | |
| 8 | g.142917773G>T | CA372394125 | CYP11B2 | c.68C>A (p.Ala23Glu) | |
| 8 | g.142917774C>A | CA372394128 | CYP11B2 | c.67G>T (p.Ala23Ser) | |
| 8 | g.142917774C>G | CA372394130 | CYP11B2 | c.67G>C (p.Ala23Pro) | |
| 8 | g.142917774C>T | CA372394132 | CYP11B2 | c.67G>A (p.Ala23Thr) | |
| 8 | g.142917775C>A | CA463506417 | CYP11B2 | c.66G>T (p.Arg22=) | |
| 8 | g.142917775C>G | CA463506416 | CYP11B2 | c.66G>C (p.Arg22=) | |
| 8 | g.142917775C>T | CA463506415 | CYP11B2 | c.66G>A (p.Arg22=) | ClinVar |
| 8 | g.142917776C>A | CA372394135 | CYP11B2 | c.65G>T (p.Arg22Leu) | |
| 8 | g.142917776C= | CA1825517380 | CYP11B2 | c.65G= (p.Arg22=) | |
| 8 | g.142917776C>G | CA372394137 | CYP11B2 | c.65G>C (p.Arg22Pro) | |
| 8 | g.142917776C>T | CA4906385 | CYP11B2 | c.65G>A (p.Arg22Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917776_142917777delinsCG | CA1825517381 | CYP11B2 | c.64_65delinsCG (p.Arg22=) | |
| 8 | g.142917777del | CA848701554 | CYP11B2 | c.64del (p.Arg22GlyfsTer29) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142917777G>A | CA4906386 | CYP11B2 | c.64C>T (p.Arg22Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917777G>C | CA372394146 | CYP11B2 | c.64C>G (p.Arg22Gly) | |
| 8 | g.142917777G= | CA1825517382 | CYP11B2 | c.64C= (p.Arg22=) | |
| 8 | g.142917777G>T | CA463506418 | CYP11B2 | c.64C>A (p.Arg22=) | gnomAD v4 |
| 8 | g.142917778T>A | CA463506419 | CYP11B2 | c.63A>T (p.Ala21=) | |
| 8 | g.142917778T>C | CA463506420 | CYP11B2 | c.63A>G (p.Ala21=) | |
| 8 | g.142917778T>G | CA463506421 | CYP11B2 | c.63A>C (p.Ala21=) | |
| 8 | g.142917779G>A | CA372394149 | CYP11B2 | c.62C>T (p.Ala21Val) | |
| 8 | g.142917779G>C | CA372394151 | CYP11B2 | c.62C>G (p.Ala21Gly) | |
| 8 | g.142917779G>T | CA372394152 | CYP11B2 | c.62C>A (p.Ala21Glu) | |
| 8 | g.142917780C>A | CA372394154 | CYP11B2 | c.61G>T (p.Ala21Ser) | dbSNP gnomAD v4 |
| 8 | g.142917780C= | CA1825517383 | CYP11B2 | c.61G= (p.Ala21=) | |
| 8 | g.142917780C>G | CA372394156 | CYP11B2 | c.61G>C (p.Ala21Pro) | |
| 8 | g.142917780C>T | CA4906387 | CYP11B2 | c.61G>A (p.Ala21Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917781C>A | CA372394162 | CYP11B2 | c.60G>T (p.Arg20Ser) | |
| 8 | g.142917781C>G | CA372394164 | CYP11B2 | c.60G>C (p.Arg20Ser) | |
| 8 | g.142917781C>T | CA463506422 | CYP11B2 | c.60G>A (p.Arg20=) | |
| 8 | g.142917782C>A | CA372394167 | CYP11B2 | c.59G>T (p.Arg20Met) | |
| 8 | g.142917782C= | CA1825517384 | CYP11B2 | c.59G= (p.Arg20=) | |
| 8 | g.142917782C>G | CA372394168 | CYP11B2 | c.59G>C (p.Arg20Thr) | dbSNP gnomAD v4 |
| 8 | g.142917782C>T | CA372394169 | CYP11B2 | c.59G>A (p.Arg20Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917783T>A | CA372394172 | CYP11B2 | c.58A>T (p.Arg20Trp) | |
| 8 | g.142917783T>C | CA372394175 | CYP11B2 | c.58A>G (p.Arg20Gly) | |
| 8 | g.142917783T>G | CA463506423 | CYP11B2 | c.58A>C (p.Arg20=) | ClinVar |
| 8 | g.142917784T>A | CA372394177 | CYP11B2 | c.57A>T (p.Gln19His) | |
| 8 | g.142917784T>C | CA463506424 | CYP11B2 | c.57A>G (p.Gln19=) | |
| 8 | g.142917784T>G | CA372394179 | CYP11B2 | c.57A>C (p.Gln19His) | |
| 8 | g.142917785T>A | CA372394181 | CYP11B2 | c.56A>T (p.Gln19Leu) | |
| 8 | g.142917785T>C | CA372394182 | CYP11B2 | c.56A>G (p.Gln19Arg) | |
| 8 | g.142917785T>G | CA372394185 | CYP11B2 | c.56A>C (p.Gln19Pro) | |
| 8 | g.142917786G>A | CA372394186 | CYP11B2 | c.55C>T (p.Gln19Ter) | |
| 8 | g.142917786G>C | CA372394188 | CYP11B2 | c.55C>G (p.Gln19Glu) | |
| 8 | g.142917786G= | CA1825517385 | CYP11B2 | c.55C= (p.Gln19=) | |
| 8 | g.142917786G>T | CA4906388 | CYP11B2 | c.55C>A (p.Gln19Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142917787C>A | CA463506425 | CYP11B2 | c.54G>T (p.Leu18=) | |
| 8 | g.142917787C>G | CA463506426 | CYP11B2 | c.54G>C (p.Leu18=) | |
| 8 | g.142917787C>T | CA463506427 | CYP11B2 | c.54G>A (p.Leu18=) | gnomAD v4 |
| 8 | g.142917788A= | CA1825517386 | CYP11B2 | c.53T= (p.Leu18=) | |
| 8 | g.142917788A>C | CA372394193 | CYP11B2 | c.53T>G (p.Leu18Arg) | |
| 8 | g.142917788A>G | CA372394195 | CYP11B2 | c.53T>C (p.Leu18Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142917788A>T | CA372394198 | CYP11B2 | c.53T>A (p.Leu18Gln) | |
| 8 | g.142917789G>A | CA463506428 | CYP11B2 | c.52C>T (p.Leu18=) | ClinVar dbSNP |
| 8 | g.142917789G>C | CA372394200 | CYP11B2 | c.52C>G (p.Leu18Val) | |
| 8 | g.142917789G>T | CA372394204 | CYP11B2 | c.52C>A (p.Leu18Met) | |
| 8 | g.142917790G>A | CA463506429 | CYP11B2 | c.51C>T (p.Ser17=) | |
| 8 | g.142917790G>C | CA463506430 | CYP11B2 | c.51C>G (p.Ser17=) | |
| 8 | g.142917790G>T | CA463506431 | CYP11B2 | c.51C>A (p.Ser17=) | |
| 8 | g.142917791G>A | CA372394211 | CYP11B2 | c.50C>T (p.Ser17Phe) | |
| 8 | g.142917791G>C | CA372394214 | CYP11B2 | c.50C>G (p.Ser17Cys) | |
| 8 | g.142917791G>T | CA372394208 | CYP11B2 | c.50C>A (p.Ser17Tyr) | |
| 8 | g.142917792A>C | CA372394222 | CYP11B2 | c.49T>G (p.Ser17Ala) | |
| 8 | g.142917792A>G | CA372394218 | CYP11B2 | c.49T>C (p.Ser17Pro) | gnomAD v4 |
| 8 | g.142917792A>T | CA372394220 | CYP11B2 | c.49T>A (p.Ser17Thr) | |
| 8 | g.142917793C>A | CA463506432 | CYP11B2 | c.48G>T (p.Leu16=) | |
| 8 | g.142917793C= | CA1825517387 | CYP11B2 | c.48G= (p.Leu16=) | |
| 8 | g.142917793C>G | CA463506433 | CYP11B2 | c.48G>C (p.Leu16=) | gnomAD v4 |
| 8 | g.142917793C>T | CA463506434 | CYP11B2 | c.48G>A (p.Leu16=) | dbSNP |
| 8 | g.142917794del | CA2688874634 | CYP11B2 | c.47del (p.Leu16ArgfsTer?) | gnomAD v4 |
| 8 | g.142917794A>C | CA372394224 | CYP11B2 | c.47T>G (p.Leu16Arg) | |
| 8 | g.142917794A>G | CA372394227 | CYP11B2 | c.47T>C (p.Leu16Pro) | |
| 8 | g.142917794A>T | CA372394228 | CYP11B2 | c.47T>A (p.Leu16Gln) | |
| 8 | g.142917795G>A | CA4906389 | CYP11B2 | c.46C>T (p.Leu16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142917795G>C | CA372394232 | CYP11B2 | c.46C>G (p.Leu16Val) | |
| 8 | g.142917795G= | CA1825517388 | CYP11B2 | c.46C= (p.Leu16=) | |
| 8 | g.142917795G>T | CA372394231 | CYP11B2 | c.46C>A (p.Leu16Met) | |
| 8 | g.142917796C>A | CA372394238 | CYP11B2 | c.45G>T (p.Trp15Cys) | |
| 8 | g.142917796C>G | CA372394240 | CYP11B2 | c.45G>C (p.Trp15Cys) | |
| 8 | g.142917796C>T | CA372394242 | CYP11B2 | c.45G>A (p.Trp15Ter) | |
| 8 | g.142917797C>A | CA372394245 | CYP11B2 | c.44G>T (p.Trp15Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142917797C= | CA1825517389 | CYP11B2 | c.44G= (p.Trp15=) | |
| 8 | g.142917797C>G | CA372394247 | CYP11B2 | c.44G>C (p.Trp15Ser) | |
| 8 | g.142917797C>T | CA372394250 | CYP11B2 | c.44G>A (p.Trp15Ter) | |
| 8 | g.142917798A>C | CA372394252 | CYP11B2 | c.43T>G (p.Trp15Gly) | gnomAD v4 |
| 8 | g.142917798A>G | CA372394258 | CYP11B2 | c.43T>C (p.Trp15Arg) | gnomAD v4 |
| 8 | g.142917798A>T | CA372394255 | CYP11B2 | c.43T>A (p.Trp15Arg) | |
| 8 | g.142917799G>A | CA463506435 | CYP11B2 | c.42C>T (p.Pro14=) | dbSNP gnomAD v4 |
| 8 | g.142917799G>C | CA463506436 | CYP11B2 | c.42C>G (p.Pro14=) | |
| 8 | g.142917799G= | CA1825517390 | CYP11B2 | c.42C= (p.Pro14=) | |
| 8 | g.142917799G>T | CA463506437 | CYP11B2 | c.42C>A (p.Pro14=) | |
| 8 | g.142917800G>A | CA372394265 | CYP11B2 | c.41C>T (p.Pro14Leu) | |
| 8 | g.142917800G>C | CA372394268 | CYP11B2 | c.41C>G (p.Pro14Arg) | |
| 8 | g.142917800G>T | CA372394270 | CYP11B2 | c.41C>A (p.Pro14His) | |
| 8 | g.142917801G>A | CA372394274 | CYP11B2 | c.40C>T (p.Pro14Ser) | gnomAD v4 |
| 8 | g.142917801G>C | CA372394276 | CYP11B2 | c.40C>G (p.Pro14Ala) | |
| 8 | g.142917801G>T | CA372394279 | CYP11B2 | c.40C>A (p.Pro14Thr) | gnomAD v4 |
| 8 | g.142917802C>A | CA463506438 | CYP11B2 | c.39G>T (p.Ala13=) | |
| 8 | g.142917802C= | CA1825517391 | CYP11B2 | c.39G= (p.Ala13=) | |
| 8 | g.142917802C>G | CA463506439 | CYP11B2 | c.39G>C (p.Ala13=) | |
| 8 | g.142917802C>T | CA4906390 | CYP11B2 | c.39G>A (p.Ala13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142917803G>A | CA4906391 | CYP11B2 | c.38C>T (p.Ala13Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917803G>C | CA372394283 | CYP11B2 | c.38C>G (p.Ala13Gly) | |
| 8 | g.142917803G= | CA1825517392 | CYP11B2 | c.38C= (p.Ala13=) | |
| 8 | g.142917803G>T | CA372394285 | CYP11B2 | c.38C>A (p.Ala13Glu) | gnomAD v4 COSMIC |
| 8 | g.142917804C>A | CA372394292 | CYP11B2 | c.37G>T (p.Ala13Ser) | |
| 8 | g.142917804C>G | CA372394290 | CYP11B2 | c.37G>C (p.Ala13Pro) | |
| 8 | g.142917804C>T | CA372394289 | CYP11B2 | c.37G>A (p.Ala13Thr) | |
| 8 | g.142917805T>A | CA463506440 | CYP11B2 | c.36A>T (p.Ala12=) | |
| 8 | g.142917805T>C | CA463506441 | CYP11B2 | c.36A>G (p.Ala12=) | gnomAD v4 |
| 8 | g.142917805T>G | CA463506442 | CYP11B2 | c.36A>C (p.Ala12=) | |
| 8 | g.142917806G>A | CA372394296 | CYP11B2 | c.35C>T (p.Ala12Val) | dbSNP |
| 8 | g.142917806G>C | CA372394297 | CYP11B2 | c.35C>G (p.Ala12Gly) | |
| 8 | g.142917806G>T | CA372394299 | CYP11B2 | c.35C>A (p.Ala12Glu) | |
| 8 | g.142917807C>A | CA372394303 | CYP11B2 | c.34G>T (p.Ala12Ser) | |
| 8 | g.142917807C>G | CA372394305 | CYP11B2 | c.34G>C (p.Ala12Pro) | |
| 8 | g.142917807C>T | CA372394307 | CYP11B2 | c.34G>A (p.Ala12Thr) | |
| 8 | g.142917808C>A | CA463506443 | CYP11B2 | c.33G>T (p.Val11=) | gnomAD v4 |
| 8 | g.142917808C>G | CA463506444 | CYP11B2 | c.33G>C (p.Val11=) | |
| 8 | g.142917808C>T | CA463506445 | CYP11B2 | c.33G>A (p.Val11=) | gnomAD v4 |
| 8 | g.142917809A>C | CA372394312 | CYP11B2 | c.32T>G (p.Val11Gly) | |
| 8 | g.142917809A>G | CA372394315 | CYP11B2 | c.32T>C (p.Val11Ala) | |
| 8 | g.142917809A>T | CA372394317 | CYP11B2 | c.32T>A (p.Val11Glu) | |
| 8 | g.142917810C>A | CA372394318 | CYP11B2 | c.31G>T (p.Val11Leu) | |
| 8 | g.142917810C= | CA1825517393 | CYP11B2 | c.31G= (p.Val11=) | |
| 8 | g.142917810C>G | CA372394320 | CYP11B2 | c.31G>C (p.Val11Leu) | dbSNP gnomAD v4 |
| 8 | g.142917810C>T | CA4906392 | CYP11B2 | c.31G>A (p.Val11Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142917811G>A | CA4906393 | CYP11B2 | c.30C>T (p.Cys10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142917811G>C | CA372394329 | CYP11B2 | c.30C>G (p.Cys10Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917811G= | CA1825517394 | CYP11B2 | c.30C= (p.Cys10=) | |
| 8 | g.142917811G>T | CA372394325 | CYP11B2 | c.30C>A (p.Cys10Ter) | ClinVar dbSNP |
| 8 | g.142917812C>A | CA372394332 | CYP11B2 | c.29G>T (p.Cys10Phe) | |
| 8 | g.142917812C= | CA1825517395 | CYP11B2 | c.29G= (p.Cys10=) | |
| 8 | g.142917812C>G | CA372394333 | CYP11B2 | c.29G>C (p.Cys10Ser) | |
| 8 | g.142917812C>T | CA372394336 | CYP11B2 | c.29G>A (p.Cys10Tyr) | dbSNP |
| 8 | g.142917813A>C | CA372394340 | CYP11B2 | c.28T>G (p.Cys10Gly) | |
| 8 | g.142917813A>G | CA372394343 | CYP11B2 | c.28T>C (p.Cys10Arg) | |
| 8 | g.142917813A>T | CA372394348 | CYP11B2 | c.28T>A (p.Cys10Ser) | |
| 8 | g.142917814C>A | CA463506446 | CYP11B2 | c.27G>T (p.Val9=) | |
| 8 | g.142917814C= | CA1825517396 | CYP11B2 | c.27G= (p.Val9=) | |
| 8 | g.142917814C>G | CA463506447 | CYP11B2 | c.27G>C (p.Val9=) | gnomAD v4 |
| 8 | g.142917814C>T | CA463506448 | CYP11B2 | c.27G>A (p.Val9=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.142917815A>C | CA372394352 | CYP11B2 | c.26T>G (p.Val9Gly) | |
| 8 | g.142917815A>G | CA372394355 | CYP11B2 | c.26T>C (p.Val9Ala) | |
| 8 | g.142917815A>T | CA372394354 | CYP11B2 | c.26T>A (p.Val9Glu) | |
| 8 | g.142917816C>A | CA372394358 | CYP11B2 | c.25G>T (p.Val9Leu) | |
| 8 | g.142917816C= | CA1825517397 | CYP11B2 | c.25G= (p.Val9=) | |
| 8 | g.142917816C>G | CA372394360 | CYP11B2 | c.25G>C (p.Val9Leu) | |
| 8 | g.142917816C>T | CA372394363 | CYP11B2 | c.25G>A (p.Val9Met) | dbSNP gnomAD v2 COSMIC |
| 8 | g.142917817C>A | CA372394366 | CYP11B2 | c.24G>T (p.Glu8Asp) | |
| 8 | g.142917817C= | CA1825517398 | CYP11B2 | c.24G= (p.Glu8=) | |
| 8 | g.142917817C>G | CA372394370 | CYP11B2 | c.24G>C (p.Glu8Asp) | dbSNP |
| 8 | g.142917817C>T | CA463506449 | CYP11B2 | c.24G>A (p.Glu8=) | |
| 8 | g.142917818T>A | CA372394381 | CYP11B2 | c.23A>T (p.Glu8Val) | |
| 8 | g.142917818T>C | CA372394384 | CYP11B2 | c.23A>G (p.Glu8Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142917818T>G | CA372394375 | CYP11B2 | c.23A>C (p.Glu8Ala) | |
| 8 | g.142917818T= | CA1825517399 | CYP11B2 | c.23A= (p.Glu8=) | |
| 8 | g.142917819C>A | CA372394394 | CYP11B2 | c.22G>T (p.Glu8Ter) | |
| 8 | g.142917819C>G | CA372394386 | CYP11B2 | c.22G>C (p.Glu8Gln) | |
| 8 | g.142917819C>T | CA372394388 | CYP11B2 | c.22G>A (p.Glu8Lys) | |
| 8 | g.142917820T>A | CA463506292 | CYP11B2 | c.21A>T (p.Ala7=) | |
| 8 | g.142917820T>C | CA463506293 | CYP11B2 | c.21A>G (p.Ala7=) | |
| 8 | g.142917820T>G | CA463506294 | CYP11B2 | c.21A>C (p.Ala7=) | |
| 8 | g.142917821G>A | CA372394397 | CYP11B2 | c.20C>T (p.Ala7Val) | COSMIC |
| 8 | g.142917821G>C | CA372394403 | CYP11B2 | c.20C>G (p.Ala7Gly) | |
| 8 | g.142917821G>T | CA372394404 | CYP11B2 | c.20C>A (p.Ala7Glu) | |
| 8 | g.142917822C>A | CA372394407 | CYP11B2 | c.19G>T (p.Ala7Ser) | |
| 8 | g.142917822C>G | CA372394410 | CYP11B2 | c.19G>C (p.Ala7Pro) | |
| 8 | g.142917822C>T | CA372394413 | CYP11B2 | c.19G>A (p.Ala7Thr) | |
| 8 | g.142917823C>A | CA372394415 | CYP11B2 | c.18G>T (p.Lys6Asn) | |
| 8 | g.142917823C= | CA1825517400 | CYP11B2 | c.18G= (p.Lys6=) | |
| 8 | g.142917823C>G | CA187457952 | CYP11B2 | c.18G>C (p.Lys6Asn) | dbSNP |
| 8 | g.142917823C>T | CA463506295 | CYP11B2 | c.18G>A (p.Lys6=) | |
| 8 | g.142917824T>A | CA372394421 | CYP11B2 | c.17A>T (p.Lys6Met) | |
| 8 | g.142917824T>C | CA372394428 | CYP11B2 | c.17A>G (p.Lys6Arg) | |
| 8 | g.142917824T>G | CA372394432 | CYP11B2 | c.17A>C (p.Lys6Thr) | |
| 8 | g.142917825T>A | CA372394448 | CYP11B2 | c.16A>T (p.Lys6Ter) | |
| 8 | g.142917825T>C | CA372394443 | CYP11B2 | c.16A>G (p.Lys6Glu) | |
| 8 | g.142917825T>G | CA372394441 | CYP11B2 | c.16A>C (p.Lys6Gln) | dbSNP |
| 8 | g.142917825T= | CA1825517401 | CYP11B2 | c.16A= (p.Lys6=) | |
| 8 | g.142917826T>A | CA463506296 | CYP11B2 | c.15A>T (p.Ala5=) | |
| 8 | g.142917826T>C | CA463506297 | CYP11B2 | c.15A>G (p.Ala5=) | |
| 8 | g.142917826T>G | CA463506298 | CYP11B2 | c.15A>C (p.Ala5=) | gnomAD v4 |
| 8 | g.142917827G>A | CA372394449 | CYP11B2 | c.14C>T (p.Ala5Val) | |
| 8 | g.142917827G>C | CA372394452 | CYP11B2 | c.14C>G (p.Ala5Gly) | gnomAD v4 |
| 8 | g.142917827G>T | CA372394454 | CYP11B2 | c.14C>A (p.Ala5Glu) | |
| 8 | g.142917828C>A | CA372394456 | CYP11B2 | c.13G>T (p.Ala5Ser) | |
| 8 | g.142917828C>G | CA372394458 | CYP11B2 | c.13G>C (p.Ala5Pro) | |
| 8 | g.142917828C>T | CA372394460 | CYP11B2 | c.13G>A (p.Ala5Thr) | gnomAD v4 |
| 8 | g.142917829C>A | CA372394463 | CYP11B2 | c.12G>T (p.Arg4Ser) | |
| 8 | g.142917829C= | CA1825517402 | CYP11B2 | c.12G= (p.Arg4=) | |
| 8 | g.142917829C>G | CA4906394 | CYP11B2 | c.12G>C (p.Arg4Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917829C>T | CA463506299 | CYP11B2 | c.12G>A (p.Arg4=) | ClinVar gnomAD v4 |
| 8 | g.142917829_142917831delinsCCT | CA1825517403 | CYP11B2 | c.10_12delinsAGG (p.Arg4=) | |
| 8 | g.142917830C>A | CA372394468 | CYP11B2 | c.11G>T (p.Arg4Met) | |
| 8 | g.142917830C= | CA1825517404 | CYP11B2 | c.11G= (p.Arg4=) | |
| 8 | g.142917830C>G | CA372394470 | CYP11B2 | c.11G>C (p.Arg4Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142917830C>T | CA372394476 | CYP11B2 | c.11G>A (p.Arg4Lys) | |
| 8 | g.142917830_142917831del | CA848701649 | CYP11B2 | c.10_11del (p.Arg4GlyfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142917831T>A | CA372394478 | CYP11B2 | c.10A>T (p.Arg4Trp) | |
| 8 | g.142917831T>C | CA372394480 | CYP11B2 | c.10A>G (p.Arg4Gly) | gnomAD v4 |
| 8 | g.142917831T>G | CA463506300 | CYP11B2 | c.10A>C (p.Arg4=) | |
| 8 | g.142917832G>A | CA463506301 | CYP11B2 | c.9C>T (p.Leu3=) | |
| 8 | g.142917832G>C | CA463506302 | CYP11B2 | c.9C>G (p.Leu3=) | |
| 8 | g.142917832G= | CA1825517405 | CYP11B2 | c.9C= (p.Leu3=) | |
| 8 | g.142917832G>T | CA4906395 | CYP11B2 | c.9C>A (p.Leu3=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917833A>C | CA372394482 | CYP11B2 | c.8T>G (p.Leu3Arg) | |
| 8 | g.142917833A>G | CA372394484 | CYP11B2 | c.8T>C (p.Leu3Pro) | |
| 8 | g.142917833A>T | CA372394481 | CYP11B2 | c.8T>A (p.Leu3His) | |
| 8 | g.142917834G>A | CA372394486 | CYP11B2 | c.7C>T (p.Leu3Phe) | |
| 8 | g.142917834G>C | CA372394489 | CYP11B2 | c.7C>G (p.Leu3Val) | |
| 8 | g.142917834G>T | CA372394490 | CYP11B2 | c.7C>A (p.Leu3Ile) | |
| 8 | g.142917835T>A | CA463506303 | CYP11B2 | c.6A>T (p.Ala2=) | |
| 8 | g.142917835T>C | CA463506304 | CYP11B2 | c.6A>G (p.Ala2=) | |
| 8 | g.142917835T>G | CA463506305 | CYP11B2 | c.6A>C (p.Ala2=) | |
| 8 | g.142917836G>A | CA372394492 | CYP11B2 | c.5C>T (p.Ala2Val) | |
| 8 | g.142917836G>C | CA372394493 | CYP11B2 | c.5C>G (p.Ala2Gly) | |
| 8 | g.142917836G>T | CA372394494 | CYP11B2 | c.5C>A (p.Ala2Glu) | |
| 8 | g.142917837C>A | CA372394495 | CYP11B2 | c.4G>T (p.Ala2Ser) | |
| 8 | g.142917837C= | CA1825517406 | CYP11B2 | c.4G= (p.Ala2=) | |
| 8 | g.142917837C>G | CA372394497 | CYP11B2 | c.4G>C (p.Ala2Pro) | dbSNP |
| 8 | g.142917837C>T | CA372394499 | CYP11B2 | c.4G>A (p.Ala2Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142917838C>A | CA372394502 | CYP11B2 | c.3G>T (p.Met1Ile) | |
| 8 | g.142917838C= | CA1825517407 | CYP11B2 | c.3G= (p.Met1=) | |
| 8 | g.142917838C>G | CA372394505 | CYP11B2 | c.3G>C (p.Met1Ile) | |
| 8 | g.142917838C>T | CA372394508 | CYP11B2 | c.3G>A (p.Met1Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142917839A>C | CA372394517 | CYP11B2 | c.2T>G (p.Met1Arg) | |
| 8 | g.142917839A>G | CA372394516 | CYP11B2 | c.2T>C (p.Met1Thr) | gnomAD v4 |
| 8 | g.142917839A>T | CA372394511 | CYP11B2 | c.2T>A (p.Met1Lys) | |
| 8 | g.142917840T>A | CA372394521 | CYP11B2 | c.1A>T (p.Met1Leu) | |
| 8 | g.142917840T>C | CA372394523 | CYP11B2 | c.1A>G (p.Met1Val) | |
| 8 | g.142917840T>G | CA372394525 | CYP11B2 | c.1A>C (p.Met1Leu) | COSMIC |
| 8 | g.142917843C>T | CA652883558 | CYP11B2 | c.-3G>A (n.-3G>A) | COSMIC |
| 8 | g.142917845A= | CA1825517408 | CYP11B2 | c.-5T= (n.-5T=) | |
| 8 | g.142917845A>C | CA2579268527 | CYP11B2 | c.-5T>G (n.-5T>G) | gnomAD v4 |
| 8 | g.142917845A>G | CA652883605 | CYP11B2 | c.-5T>C (n.-5T>C) | dbSNP COSMIC |
| 8 | g.142917846T>A | CA2688874658 | CYP11B2 | c.-6A>T (n.-6A>T) | gnomAD v4 |
| 8 | g.142917846T>C | CA2579268528 | CYP11B2 | c.-6A>G (n.-6A>G) | |
| 8 | g.142917847G>C | CA848701675 | CYP11B2 | c.-7C>G (n.-7C>G) | dbSNP |
| 8 | g.142917847G= | CA1825517409 | CYP11B2 | c.-7C= (n.-7C=) | |
| 8 | g.142917847G>T | CA4906396 | CYP11B2 | c.-7C>A (n.-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142917848C= | CA1825517410 | CYP11B2 | c.-8G= (n.-8G=) | |
| 8 | g.142917848C>G | CA2688874661 | CYP11B2 | c.-8G>C (n.-8G>C) | gnomAD v4 |
| 8 | g.142917848C>T | CA585726954 | CYP11B2 | c.-8G>A (n.-8G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142917849T>C | CA4906397 | CYP11B2 | c.-9A>G (n.-9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142917849T= | CA1825517411 | CYP11B2 | c.-9A= (n.-9A=) | |
| 8 | g.142917850C>T | CA2688874662 | CYP11B2 | c.-10G>A (n.-10G>A) | gnomAD v4 |
| 8 | g.142917851C= | CA1825517412 | CYP11B2 | c.-11G= (n.-11G=) | |
| 8 | g.142917851C>T | CA585726955 | CYP11B2 | c.-11G>A (n.-11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142917854C= | CA1825517413 | CYP11B2 | c.-14G= (n.-14G=) | |
| 8 | g.142917854C>G | CA4906398 | CYP11B2 | c.-14G>C (n.-14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |