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 |
|---|---|---|---|---|---|
| 2 | g.32063148_32067182del | CA339677 | ClinVar | ||
| 2 | g.32063720_32066025del | CA325517 | SPAST | c.-112_446del c.-112_415+1779del | ClinVar |
| 2 | g.32064030G>A | CA346601659 | SPAST | c.199G>A (p.Val67Ile) c.83G>A c.69G>A c.-60G>A (n.-60G>A) c.75G>A c.40G>A (p.Val14Ile) c.33G>A | gnomAD v4 |
| 2 | g.32064030G>C | CA346601661 | SPAST | c.199G>C (p.Val67Leu) c.83G>C c.69G>C c.-60G>C (n.-60G>C) c.75G>C c.40G>C (p.Val14Leu) c.33G>C | |
| 2 | g.32064030G>T | CA346601662 | SPAST | c.199G>T (p.Val67Phe) c.83G>T c.69G>T c.-60G>T (n.-60G>T) c.75G>T c.40G>T (p.Val14Phe) c.33G>T | |
| 2 | g.32064030_32064033delinsATCC | CA891842788 | SPAST | c.199_202delinsATCC (p.Val67_Ala68delinsIlePro) c.83_86delinsATCC c.69_72delinsATCC c.-60_-57delinsATCC (n.-60_-57delinsATCC) c.75_78delinsATCC c.40_43delinsATCC (p.Val14_Ala15delinsIlePro) c.33_36delinsATCC | ClinVar dbSNP |
| 2 | g.32064030_32064033delinsGTCG | CA1242461698 | SPAST | c.199_202delinsGTCG (p.Val67=) c.83_86delinsGTCG c.69_72delinsGTCG c.-60_-57delinsGTCG (n.-60_-57delinsGTCG) c.75_78delinsGTCG c.40_43delinsGTCG (p.Val14=) c.33_36delinsGTCG | |
| 2 | g.32064031T>A | CA346601664 | SPAST | c.200T>A (p.Val67Asp) c.84T>A c.70T>A c.-59T>A (n.-59T>A) c.76T>A c.41T>A (p.Val14Asp) c.34T>A | |
| 2 | g.32064031T>C | CA346601666 | SPAST | c.200T>C (p.Val67Ala) c.84T>C c.70T>C c.-59T>C (n.-59T>C) c.76T>C c.41T>C (p.Val14Ala) c.34T>C | |
| 2 | g.32064031T>G | CA346601667 | SPAST | c.200T>G (p.Val67Gly) c.84T>G c.70T>G c.-59T>G (n.-59T>G) c.76T>G c.41T>G (p.Val14Gly) c.34T>G | |
| 2 | g.32064032C>A | CA425627561 | SPAST | c.201C>A (p.Val67=) c.85C>A c.71C>A c.-58C>A (n.-58C>A) c.77C>A c.42C>A (p.Val14=) c.35C>A | gnomAD v4 COSMIC |
| 2 | g.32064032C= | CA1242461699 | SPAST | c.201C= (p.Val67=) c.85C= c.71C= c.-58C= (n.-58C=) c.77C= c.42C= (p.Val14=) c.35C= | |
| 2 | g.32064032C>G | CA425627564 | SPAST | c.201C>G (p.Val67=) c.85C>G c.71C>G c.-58C>G (n.-58C>G) c.77C>G c.42C>G (p.Val14=) c.35C>G | |
| 2 | g.32064032C>T | CA1600517 | SPAST | c.201C>T (p.Val67=) c.85C>T c.71C>T c.-58C>T (n.-58C>T) c.77C>T c.42C>T (p.Val14=) c.35C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32064033G>A | CA346601676 | SPAST | c.202G>A (p.Ala68Thr) c.86G>A c.72G>A c.-57G>A (n.-57G>A) c.78G>A c.43G>A (p.Ala15Thr) c.36G>A | |
| 2 | g.32064033G>C | CA346601679 | SPAST | c.202G>C (p.Ala68Pro) c.86G>C c.72G>C c.-57G>C (n.-57G>C) c.78G>C c.43G>C (p.Ala15Pro) c.36G>C | dbSNP |
| 2 | g.32064033G= | CA1242461700 | SPAST | c.202G= (p.Ala68=) c.86G= c.72G= c.-57G= (n.-57G=) c.78G= c.43G= (p.Ala15=) c.36G= | |
| 2 | g.32064033G>T | CA346601677 | SPAST | c.202G>T (p.Ala68Ser) c.86G>T c.72G>T c.-57G>T (n.-57G>T) c.78G>T c.43G>T (p.Ala15Ser) c.36G>T | |
| 2 | g.32064034C>A | CA346601682 | SPAST | c.203C>A (p.Ala68Asp) c.87C>A c.73C>A c.-56C>A (n.-56C>A) c.79C>A c.44C>A (p.Ala15Asp) c.37C>A | |
| 2 | g.32064034C>G | CA346601685 | SPAST | c.203C>G (p.Ala68Gly) c.87C>G c.73C>G c.-56C>G (n.-56C>G) c.79C>G c.44C>G (p.Ala15Gly) c.37C>G | |
| 2 | g.32064034C>T | CA346601683 | SPAST | c.203C>T (p.Ala68Val) c.87C>T c.73C>T c.-56C>T (n.-56C>T) c.79C>T c.44C>T (p.Ala15Val) c.37C>T | |
| 2 | g.32064035C>A | CA425627574 | SPAST | c.204C>A (p.Ala68=) c.88C>A c.74C>A c.-55C>A (n.-55C>A) c.80C>A c.45C>A (p.Ala15=) c.38C>A | |
| 2 | g.32064035C= | CA1242461701 | SPAST | c.204C= (p.Ala68=) c.88C= c.74C= c.-55C= (n.-55C=) c.80C= c.45C= (p.Ala15=) c.38C= | |
| 2 | g.32064035C>G | CA425627575 | SPAST | c.204C>G (p.Ala68=) c.88C>G c.74C>G c.-55C>G (n.-55C>G) c.80C>G c.45C>G (p.Ala15=) c.38C>G | gnomAD v4 |
| 2 | g.32064035C>T | CA1600518 | SPAST | c.204C>T (p.Ala68=) c.88C>T c.74C>T c.-55C>T (n.-55C>T) c.80C>T c.45C>T (p.Ala15=) c.38C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32064036T>A | CA346601687 | SPAST | c.205T>A (p.Phe69Ile) c.89T>A c.75T>A c.-54T>A (n.-54T>A) c.81T>A c.46T>A (p.Phe16Ile) c.39T>A | |
| 2 | g.32064036T>C | CA346601688 | SPAST | c.205T>C (p.Phe69Leu) c.89T>C c.75T>C c.-54T>C (n.-54T>C) c.81T>C c.46T>C (p.Phe16Leu) c.39T>C | gnomAD v4 |
| 2 | g.32064036T>G | CA346601689 | SPAST | c.205T>G (p.Phe69Val) c.89T>G c.75T>G c.-54T>G (n.-54T>G) c.81T>G c.46T>G (p.Phe16Val) c.39T>G | |
| 2 | g.32064037T>A | CA346601690 | SPAST | c.206T>A (p.Phe69Tyr) c.90T>A c.76T>A c.-53T>A (n.-53T>A) c.82T>A c.47T>A (p.Phe16Tyr) c.40T>A | |
| 2 | g.32064037T>C | CA346601691 | SPAST | c.206T>C (p.Phe69Ser) c.90T>C c.76T>C c.-53T>C (n.-53T>C) c.82T>C c.47T>C (p.Phe16Ser) c.40T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.32064037T>G | CA346601692 | SPAST | c.206T>G (p.Phe69Cys) c.90T>G c.76T>G c.-53T>G (n.-53T>G) c.82T>G c.47T>G (p.Phe16Cys) c.40T>G | |
| 2 | g.32064037T= | CA1242461702 | SPAST | c.206T= (p.Phe69=) c.90T= c.76T= c.-53T= (n.-53T=) c.82T= c.47T= (p.Phe16=) c.40T= | |
| 2 | g.32064038C>A | CA346601694 | SPAST | c.207C>A (p.Phe69Leu) c.91C>A c.77C>A c.-52C>A (n.-52C>A) c.83C>A c.48C>A (p.Phe16Leu) c.41C>A | |
| 2 | g.32064038C= | CA1242461703 | SPAST | c.207C= (p.Phe69=) c.91C= c.77C= c.-52C= (n.-52C=) c.83C= c.48C= (p.Phe16=) c.41C= | |
| 2 | g.32064038C>G | CA346601695 | SPAST | c.207C>G (p.Phe69Leu) c.91C>G c.77C>G c.-52C>G (n.-52C>G) c.83C>G c.48C>G (p.Phe16Leu) c.41C>G | |
| 2 | g.32064038C>T | CA425627597 | SPAST | c.207C>T (p.Phe69=) c.91C>T c.77C>T c.-52C>T (n.-52C>T) c.83C>T c.48C>T (p.Phe16=) c.41C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32064038_32064053dup | CA2739274304 | SPAST | c.207_222dup (p.Phe75ProfsTer?) c.91_106dup c.77_92dup c.-52_-37dup (n.-52_-37dup) c.83_98dup c.48_63dup (p.Phe22ProfsTer?) c.41_56dup | ClinVar |
| 2 | g.32064039C>A | CA346601697 | SPAST | c.208C>A (p.His70Asn) c.92C>A c.78C>A c.-51C>A (n.-51C>A) c.84C>A c.49C>A (p.His17Asn) c.42C>A | ClinVar |
| 2 | g.32064039C= | CA1242461704 | SPAST | c.208C= (p.His70=) c.92C= c.78C= c.-51C= (n.-51C=) c.84C= c.49C= (p.His17=) c.42C= | |
| 2 | g.32064039C>G | CA346601704 | SPAST | c.208C>G (p.His70Asp) c.92C>G c.78C>G c.-51C>G (n.-51C>G) c.84C>G c.49C>G (p.His17Asp) c.42C>G | |
| 2 | g.32064039C>T | CA346601706 | SPAST | c.208C>T (p.His70Tyr) c.92C>T c.78C>T c.-51C>T (n.-51C>T) c.84C>T c.49C>T (p.His17Tyr) c.42C>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32064040A= | CA1242461705 | SPAST | c.209A= (p.His70=) c.93A= c.79A= c.-50A= (n.-50A=) c.85A= c.50A= (p.His17=) c.43A= | |
| 2 | g.32064040A>C | CA346601710 | SPAST | c.209A>C (p.His70Pro) c.93A>C c.79A>C c.-50A>C (n.-50A>C) c.85A>C c.50A>C (p.His17Pro) c.43A>C | |
| 2 | g.32064040A>G | CA346601708 | SPAST | c.209A>G (p.His70Arg) c.93A>G c.79A>G c.-50A>G (n.-50A>G) c.85A>G c.50A>G (p.His17Arg) c.43A>G | |
| 2 | g.32064040A>T | CA45201395 | SPAST | c.209A>T (p.His70Leu) c.93A>T c.79A>T c.-50A>T (n.-50A>T) c.85A>T c.50A>T (p.His17Leu) c.43A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32064041C>A | CA346601713 | SPAST | c.210C>A (p.His70Gln) c.94C>A c.80C>A c.-49C>A (n.-49C>A) c.86C>A c.51C>A (p.His17Gln) c.44C>A | |
| 2 | g.32064041C= | CA1242461706 | SPAST | c.210C= (p.His70=) c.94C= c.80C= c.-49C= (n.-49C=) c.86C= c.51C= (p.His17=) c.44C= | |
| 2 | g.32064041C>G | CA1600519 | SPAST | c.210C>G (p.His70Gln) c.94C>G c.80C>G c.-49C>G (n.-49C>G) c.86C>G c.51C>G (p.His17Gln) c.44C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32064041C>T | CA425627611 | SPAST | c.210C>T (p.His70=) c.94C>T c.80C>T c.-49C>T (n.-49C>T) c.86C>T c.51C>T (p.His17=) c.44C>T | dbSNP gnomAD v4 |
| 2 | g.32064042C>A | CA346601715 | SPAST | c.211C>A (p.Leu71Met) c.95C>A c.81C>A c.-48C>A (n.-48C>A) c.87C>A c.52C>A (p.Leu18Met) c.45C>A | dbSNP |