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 |
|---|---|---|---|---|---|
| 9 | g.128617585C>A | CA200401557 | SPTAN1 | c.5394-55C>A (n.5394-55C>A) c.5358-55C>A (n.5358-55C>A) c.4821-55C>A (n.4821-55C>A) c.2981-55C>A c.968-55C>A n.586-55C>A c.5283-55C>A (n.5283-55C>A) c.5343-55C>A (n.5343-55C>A) c.5298-55C>A (n.5298-55C>A) c.5379-55C>A (n.5379-55C>A) c.5334-55C>A (n.5334-55C>A) c.5319-55C>A (n.5319-55C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617585C= | CA1880364124 | SPTAN1 | c.5394-55C= (n.5394-55C=) c.5358-55C= (n.5358-55C=) c.4821-55C= (n.4821-55C=) c.2981-55C= c.968-55C= n.586-55C= c.5283-55C= (n.5283-55C=) c.5343-55C= (n.5343-55C=) c.5298-55C= (n.5298-55C=) c.5379-55C= (n.5379-55C=) c.5334-55C= (n.5334-55C=) c.5319-55C= (n.5319-55C=) | |
| 9 | g.128617585C>G | CA860269976 | SPTAN1 | c.5394-55C>G (n.5394-55C>G) c.5358-55C>G (n.5358-55C>G) c.4821-55C>G (n.4821-55C>G) c.2981-55C>G c.968-55C>G n.586-55C>G c.5283-55C>G (n.5283-55C>G) c.5343-55C>G (n.5343-55C>G) c.5298-55C>G (n.5298-55C>G) c.5379-55C>G (n.5379-55C>G) c.5334-55C>G (n.5334-55C>G) c.5319-55C>G (n.5319-55C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128617587T>G | CA2691935429 | SPTAN1 | c.5394-53T>G (n.5394-53T>G) c.5358-53T>G (n.5358-53T>G) c.4821-53T>G (n.4821-53T>G) c.2981-53T>G c.968-53T>G n.586-53T>G c.5283-53T>G (n.5283-53T>G) c.5343-53T>G (n.5343-53T>G) c.5298-53T>G (n.5298-53T>G) c.5379-53T>G (n.5379-53T>G) c.5334-53T>G (n.5334-53T>G) c.5319-53T>G (n.5319-53T>G) | gnomAD v4 |
| 9 | g.128617588G>T | CA2691935430 | SPTAN1 | c.5394-52G>T (n.5394-52G>T) c.5358-52G>T (n.5358-52G>T) c.4821-52G>T (n.4821-52G>T) c.2981-52G>T c.968-52G>T n.586-52G>T c.5283-52G>T (n.5283-52G>T) c.5343-52G>T (n.5343-52G>T) c.5298-52G>T (n.5298-52G>T) c.5379-52G>T (n.5379-52G>T) c.5334-52G>T (n.5334-52G>T) c.5319-52G>T (n.5319-52G>T) | gnomAD v4 |
| 9 | g.128617592G= | CA1880364125 | SPTAN1 | c.5394-48G= (n.5394-48G=) c.5358-48G= (n.5358-48G=) c.4821-48G= (n.4821-48G=) c.2981-48G= c.968-48G= n.586-48G= c.5283-48G= (n.5283-48G=) c.5343-48G= (n.5343-48G=) c.5298-48G= (n.5298-48G=) c.5379-48G= (n.5379-48G=) c.5334-48G= (n.5334-48G=) c.5319-48G= (n.5319-48G=) | |
| 9 | g.128617592G>T | CA1129336640 | SPTAN1 | c.5394-48G>T (n.5394-48G>T) c.5358-48G>T (n.5358-48G>T) c.4821-48G>T (n.4821-48G>T) c.2981-48G>T c.968-48G>T n.586-48G>T c.5283-48G>T (n.5283-48G>T) c.5343-48G>T (n.5343-48G>T) c.5298-48G>T (n.5298-48G>T) c.5379-48G>T (n.5379-48G>T) c.5334-48G>T (n.5334-48G>T) c.5319-48G>T (n.5319-48G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128617593C>G | CA2691935432 | SPTAN1 | c.5394-47C>G (n.5394-47C>G) c.5358-47C>G (n.5358-47C>G) c.4821-47C>G (n.4821-47C>G) c.2981-47C>G c.968-47C>G n.586-47C>G c.5283-47C>G (n.5283-47C>G) c.5343-47C>G (n.5343-47C>G) c.5298-47C>G (n.5298-47C>G) c.5379-47C>G (n.5379-47C>G) c.5334-47C>G (n.5334-47C>G) c.5319-47C>G (n.5319-47C>G) | gnomAD v4 |
| 9 | g.128617594A>C | CA2691935433 | SPTAN1 | c.5394-46A>C (n.5394-46A>C) c.5358-46A>C (n.5358-46A>C) c.4821-46A>C (n.4821-46A>C) c.2981-46A>C c.968-46A>C n.586-46A>C c.5283-46A>C (n.5283-46A>C) c.5343-46A>C (n.5343-46A>C) c.5298-46A>C (n.5298-46A>C) c.5379-46A>C (n.5379-46A>C) c.5334-46A>C (n.5334-46A>C) c.5319-46A>C (n.5319-46A>C) | gnomAD v4 |
| 9 | g.128617596G>A | CA1880364126 | SPTAN1 | c.5394-44G>A (n.5394-44G>A) c.5358-44G>A (n.5358-44G>A) c.4821-44G>A (n.4821-44G>A) c.2981-44G>A c.968-44G>A n.586-44G>A c.5283-44G>A (n.5283-44G>A) c.5343-44G>A (n.5343-44G>A) c.5298-44G>A (n.5298-44G>A) c.5379-44G>A (n.5379-44G>A) c.5334-44G>A (n.5334-44G>A) c.5319-44G>A (n.5319-44G>A) | dbSNP gnomAD v4 |
| 9 | g.128617596G>C | CA2579470235 | SPTAN1 | c.5394-44G>C (n.5394-44G>C) c.5358-44G>C (n.5358-44G>C) c.4821-44G>C (n.4821-44G>C) c.2981-44G>C c.968-44G>C n.586-44G>C c.5283-44G>C (n.5283-44G>C) c.5343-44G>C (n.5343-44G>C) c.5298-44G>C (n.5298-44G>C) c.5379-44G>C (n.5379-44G>C) c.5334-44G>C (n.5334-44G>C) c.5319-44G>C (n.5319-44G>C) | |
| 9 | g.128617596G= | CA1880364127 | SPTAN1 | c.5394-44G= (n.5394-44G=) c.5358-44G= (n.5358-44G=) c.4821-44G= (n.4821-44G=) c.2981-44G= c.968-44G= n.586-44G= c.5283-44G= (n.5283-44G=) c.5343-44G= (n.5343-44G=) c.5298-44G= (n.5298-44G=) c.5379-44G= (n.5379-44G=) c.5334-44G= (n.5334-44G=) c.5319-44G= (n.5319-44G=) | |
| 9 | g.128617597G>A | CA2691935434 | SPTAN1 | c.5394-43G>A (n.5394-43G>A) c.5358-43G>A (n.5358-43G>A) c.4821-43G>A (n.4821-43G>A) c.2981-43G>A c.968-43G>A n.586-43G>A c.5283-43G>A (n.5283-43G>A) c.5343-43G>A (n.5343-43G>A) c.5298-43G>A (n.5298-43G>A) c.5379-43G>A (n.5379-43G>A) c.5334-43G>A (n.5334-43G>A) c.5319-43G>A (n.5319-43G>A) | gnomAD v4 |
| 9 | g.128617597G= | CA1880364128 | SPTAN1 | c.5394-43G= (n.5394-43G=) c.5358-43G= (n.5358-43G=) c.4821-43G= (n.4821-43G=) c.2981-43G= c.968-43G= n.586-43G= c.5283-43G= (n.5283-43G=) c.5343-43G= (n.5343-43G=) c.5298-43G= (n.5298-43G=) c.5379-43G= (n.5379-43G=) c.5334-43G= (n.5334-43G=) c.5319-43G= (n.5319-43G=) | |
| 9 | g.128617597G>T | CA1880364129 | SPTAN1 | c.5394-43G>T (n.5394-43G>T) c.5358-43G>T (n.5358-43G>T) c.4821-43G>T (n.4821-43G>T) c.2981-43G>T c.968-43G>T n.586-43G>T c.5283-43G>T (n.5283-43G>T) c.5343-43G>T (n.5343-43G>T) c.5298-43G>T (n.5298-43G>T) c.5379-43G>T (n.5379-43G>T) c.5334-43G>T (n.5334-43G>T) c.5319-43G>T (n.5319-43G>T) | dbSNP |
| 9 | g.128617598A= | CA1880364130 | SPTAN1 | c.5394-42A= (n.5394-42A=) c.5358-42A= (n.5358-42A=) c.4821-42A= (n.4821-42A=) c.2981-42A= c.968-42A= n.586-42A= c.5283-42A= (n.5283-42A=) c.5343-42A= (n.5343-42A=) c.5298-42A= (n.5298-42A=) c.5379-42A= (n.5379-42A=) c.5334-42A= (n.5334-42A=) c.5319-42A= (n.5319-42A=) | |
| 9 | g.128617598A>G | CA1880364131 | SPTAN1 | c.5394-42A>G (n.5394-42A>G) c.5358-42A>G (n.5358-42A>G) c.4821-42A>G (n.4821-42A>G) c.2981-42A>G c.968-42A>G n.586-42A>G c.5283-42A>G (n.5283-42A>G) c.5343-42A>G (n.5343-42A>G) c.5298-42A>G (n.5298-42A>G) c.5379-42A>G (n.5379-42A>G) c.5334-42A>G (n.5334-42A>G) c.5319-42A>G (n.5319-42A>G) | dbSNP |
| 9 | g.128617599G>A | CA200401559 | SPTAN1 | c.5394-41G>A (n.5394-41G>A) c.5358-41G>A (n.5358-41G>A) c.4821-41G>A (n.4821-41G>A) c.2981-41G>A c.968-41G>A n.586-41G>A c.5283-41G>A (n.5283-41G>A) c.5343-41G>A (n.5343-41G>A) c.5298-41G>A (n.5298-41G>A) c.5379-41G>A (n.5379-41G>A) c.5334-41G>A (n.5334-41G>A) c.5319-41G>A (n.5319-41G>A) | dbSNP |
| 9 | g.128617599G= | CA1880364132 | SPTAN1 | c.5394-41G= (n.5394-41G=) c.5358-41G= (n.5358-41G=) c.4821-41G= (n.4821-41G=) c.2981-41G= c.968-41G= n.586-41G= c.5283-41G= (n.5283-41G=) c.5343-41G= (n.5343-41G=) c.5298-41G= (n.5298-41G=) c.5379-41G= (n.5379-41G=) c.5334-41G= (n.5334-41G=) c.5319-41G= (n.5319-41G=) | |
| 9 | g.128617599_128617614delinsGGTGCAGAGACTGACT | CA1880364133 | SPTAN1 | c.5394-41_5394-26delinsGGTGCAGAGACTGACT (n.5394-41_5394-26delinsGGTGCAGAGACTGACT) c.5358-41_5358-26delinsGGTGCAGAGACTGACT (n.5358-41_5358-26delinsGGTGCAGAGACTGACT) c.4821-41_4821-26delinsGGTGCAGAGACTGACT (n.4821-41_4821-26delinsGGTGCAGAGACTGACT) c.2981-41_2981-26delinsGGTGCAGAGACTGACT c.968-41_968-26delinsGGTGCAGAGACTGACT n.586-41_586-26delinsGGTGCAGAGACTGACT c.5283-41_5283-26delinsGGTGCAGAGACTGACT (n.5283-41_5283-26delinsGGTGCAGAGACTGACT) c.5343-41_5343-26delinsGGTGCAGAGACTGACT (n.5343-41_5343-26delinsGGTGCAGAGACTGACT) c.5298-41_5298-26delinsGGTGCAGAGACTGACT (n.5298-41_5298-26delinsGGTGCAGAGACTGACT) c.5379-41_5379-26delinsGGTGCAGAGACTGACT (n.5379-41_5379-26delinsGGTGCAGAGACTGACT) c.5334-41_5334-26delinsGGTGCAGAGACTGACT (n.5334-41_5334-26delinsGGTGCAGAGACTGACT) c.5319-41_5319-26delinsGGTGCAGAGACTGACT (n.5319-41_5319-26delinsGGTGCAGAGACTGACT) | |
| 9 | g.128617600G>A | CA1880364135 | SPTAN1 | c.5394-40G>A (n.5394-40G>A) c.5358-40G>A (n.5358-40G>A) c.4821-40G>A (n.4821-40G>A) c.2981-40G>A c.968-40G>A n.586-40G>A c.5283-40G>A (n.5283-40G>A) c.5343-40G>A (n.5343-40G>A) c.5298-40G>A (n.5298-40G>A) c.5379-40G>A (n.5379-40G>A) c.5334-40G>A (n.5334-40G>A) c.5319-40G>A (n.5319-40G>A) | dbSNP |
| 9 | g.128617600G= | CA1880364134 | SPTAN1 | c.5394-40G= (n.5394-40G=) c.5358-40G= (n.5358-40G=) c.4821-40G= (n.4821-40G=) c.2981-40G= c.968-40G= n.586-40G= c.5283-40G= (n.5283-40G=) c.5343-40G= (n.5343-40G=) c.5298-40G= (n.5298-40G=) c.5379-40G= (n.5379-40G=) c.5334-40G= (n.5334-40G=) c.5319-40G= (n.5319-40G=) | |
| 9 | g.128617600G>T | CA5265434 | SPTAN1 | c.5394-40G>T (n.5394-40G>T) c.5358-40G>T (n.5358-40G>T) c.4821-40G>T (n.4821-40G>T) c.2981-40G>T c.968-40G>T n.586-40G>T c.5283-40G>T (n.5283-40G>T) c.5343-40G>T (n.5343-40G>T) c.5298-40G>T (n.5298-40G>T) c.5379-40G>T (n.5379-40G>T) c.5334-40G>T (n.5334-40G>T) c.5319-40G>T (n.5319-40G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617604_128617618del | CA1880364136 | SPTAN1 | c.5394-36_5394-22del (n.5394-36_5394-22del) c.5358-36_5358-22del (n.5358-36_5358-22del) c.4821-36_4821-22del (n.4821-36_4821-22del) c.2981-36_2981-22del c.968-36_968-22del n.586-36_586-22del c.5283-36_5283-22del (n.5283-36_5283-22del) c.5343-36_5343-22del (n.5343-36_5343-22del) c.5298-36_5298-22del (n.5298-36_5298-22del) c.5379-36_5379-22del (n.5379-36_5379-22del) c.5334-36_5334-22del (n.5334-36_5334-22del) c.5319-36_5319-22del (n.5319-36_5319-22del) | dbSNP |
| 9 | g.128617602G>A | CA5265435 | SPTAN1 | c.5394-38G>A (n.5394-38G>A) c.5358-38G>A (n.5358-38G>A) c.4821-38G>A (n.4821-38G>A) c.2981-38G>A c.968-38G>A n.586-38G>A c.5283-38G>A (n.5283-38G>A) c.5343-38G>A (n.5343-38G>A) c.5298-38G>A (n.5298-38G>A) c.5379-38G>A (n.5379-38G>A) c.5334-38G>A (n.5334-38G>A) c.5319-38G>A (n.5319-38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617602G= | CA1880364137 | SPTAN1 | c.5394-38G= (n.5394-38G=) c.5358-38G= (n.5358-38G=) c.4821-38G= (n.4821-38G=) c.2981-38G= c.968-38G= n.586-38G= c.5283-38G= (n.5283-38G=) c.5343-38G= (n.5343-38G=) c.5298-38G= (n.5298-38G=) c.5379-38G= (n.5379-38G=) c.5334-38G= (n.5334-38G=) c.5319-38G= (n.5319-38G=) | |
| 9 | g.128617602G>T | CA5265436 | SPTAN1 | c.5394-38G>T (n.5394-38G>T) c.5358-38G>T (n.5358-38G>T) c.4821-38G>T (n.4821-38G>T) c.2981-38G>T c.968-38G>T n.586-38G>T c.5283-38G>T (n.5283-38G>T) c.5343-38G>T (n.5343-38G>T) c.5298-38G>T (n.5298-38G>T) c.5379-38G>T (n.5379-38G>T) c.5334-38G>T (n.5334-38G>T) c.5319-38G>T (n.5319-38G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617602_128617609delinsGCAGAGAC | CA1880364138 | SPTAN1 | c.5394-38_5394-31delinsGCAGAGAC (n.5394-38_5394-31delinsGCAGAGAC) c.5358-38_5358-31delinsGCAGAGAC (n.5358-38_5358-31delinsGCAGAGAC) c.4821-38_4821-31delinsGCAGAGAC (n.4821-38_4821-31delinsGCAGAGAC) c.2981-38_2981-31delinsGCAGAGAC c.968-38_968-31delinsGCAGAGAC n.586-38_586-31delinsGCAGAGAC c.5283-38_5283-31delinsGCAGAGAC (n.5283-38_5283-31delinsGCAGAGAC) c.5343-38_5343-31delinsGCAGAGAC (n.5343-38_5343-31delinsGCAGAGAC) c.5298-38_5298-31delinsGCAGAGAC (n.5298-38_5298-31delinsGCAGAGAC) c.5379-38_5379-31delinsGCAGAGAC (n.5379-38_5379-31delinsGCAGAGAC) c.5334-38_5334-31delinsGCAGAGAC (n.5334-38_5334-31delinsGCAGAGAC) c.5319-38_5319-31delinsGCAGAGAC (n.5319-38_5319-31delinsGCAGAGAC) | |
| 9 | g.128617603_128617609del | CA590638518 | SPTAN1 | c.5394-37_5394-31del (n.5394-37_5394-31del) c.5358-37_5358-31del (n.5358-37_5358-31del) c.4821-37_4821-31del (n.4821-37_4821-31del) c.2981-37_2981-31del c.968-37_968-31del n.586-37_586-31del c.5283-37_5283-31del (n.5283-37_5283-31del) c.5343-37_5343-31del (n.5343-37_5343-31del) c.5298-37_5298-31del (n.5298-37_5298-31del) c.5379-37_5379-31del (n.5379-37_5379-31del) c.5334-37_5334-31del (n.5334-37_5334-31del) c.5319-37_5319-31del (n.5319-37_5319-31del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617604A= | CA1880364139 | SPTAN1 | c.5394-36A= (n.5394-36A=) c.5358-36A= (n.5358-36A=) c.4821-36A= (n.4821-36A=) c.2981-36A= c.968-36A= n.586-36A= c.5283-36A= (n.5283-36A=) c.5343-36A= (n.5343-36A=) c.5298-36A= (n.5298-36A=) c.5379-36A= (n.5379-36A=) c.5334-36A= (n.5334-36A=) c.5319-36A= (n.5319-36A=) | |
| 9 | g.128617604A>G | CA5265437 | SPTAN1 | c.5394-36A>G (n.5394-36A>G) c.5358-36A>G (n.5358-36A>G) c.4821-36A>G (n.4821-36A>G) c.2981-36A>G c.968-36A>G n.586-36A>G c.5283-36A>G (n.5283-36A>G) c.5343-36A>G (n.5343-36A>G) c.5298-36A>G (n.5298-36A>G) c.5379-36A>G (n.5379-36A>G) c.5334-36A>G (n.5334-36A>G) c.5319-36A>G (n.5319-36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617605G>A | CA590638520 | SPTAN1 | c.5394-35G>A (n.5394-35G>A) c.5358-35G>A (n.5358-35G>A) c.4821-35G>A (n.4821-35G>A) c.2981-35G>A c.968-35G>A n.586-35G>A c.5283-35G>A (n.5283-35G>A) c.5343-35G>A (n.5343-35G>A) c.5298-35G>A (n.5298-35G>A) c.5379-35G>A (n.5379-35G>A) c.5334-35G>A (n.5334-35G>A) c.5319-35G>A (n.5319-35G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617605G= | CA1880364140 | SPTAN1 | c.5394-35G= (n.5394-35G=) c.5358-35G= (n.5358-35G=) c.4821-35G= (n.4821-35G=) c.2981-35G= c.968-35G= n.586-35G= c.5283-35G= (n.5283-35G=) c.5343-35G= (n.5343-35G=) c.5298-35G= (n.5298-35G=) c.5379-35G= (n.5379-35G=) c.5334-35G= (n.5334-35G=) c.5319-35G= (n.5319-35G=) | |
| 9 | g.128617606_128617610delinsAGACT | CA1880364141 | SPTAN1 | c.5394-34_5394-30delinsAGACT (n.5394-34_5394-30delinsAGACT) c.5358-34_5358-30delinsAGACT (n.5358-34_5358-30delinsAGACT) c.4821-34_4821-30delinsAGACT (n.4821-34_4821-30delinsAGACT) c.2981-34_2981-30delinsAGACT c.968-34_968-30delinsAGACT n.586-34_586-30delinsAGACT c.5283-34_5283-30delinsAGACT (n.5283-34_5283-30delinsAGACT) c.5343-34_5343-30delinsAGACT (n.5343-34_5343-30delinsAGACT) c.5298-34_5298-30delinsAGACT (n.5298-34_5298-30delinsAGACT) c.5379-34_5379-30delinsAGACT (n.5379-34_5379-30delinsAGACT) c.5334-34_5334-30delinsAGACT (n.5334-34_5334-30delinsAGACT) c.5319-34_5319-30delinsAGACT (n.5319-34_5319-30delinsAGACT) | |
| 9 | g.128617612_128617615del | CA5265438 | SPTAN1 | c.5394-28_5394-25del (n.5394-28_5394-25del) c.5358-28_5358-25del (n.5358-28_5358-25del) c.4821-28_4821-25del (n.4821-28_4821-25del) c.2981-28_2981-25del c.968-28_968-25del n.586-28_586-25del c.5283-28_5283-25del (n.5283-28_5283-25del) c.5343-28_5343-25del (n.5343-28_5343-25del) c.5298-28_5298-25del (n.5298-28_5298-25del) c.5379-28_5379-25del (n.5379-28_5379-25del) c.5334-28_5334-25del (n.5334-28_5334-25del) c.5319-28_5319-25del (n.5319-28_5319-25del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617607_128617684dup | CA2603154228 | SPTAN1 | c.5394-33_5438dup c.5358-33_5402dup c.4821-33_4865dup c.2981-33_3025dup c.968-33_1012dup n.586-33_630dup c.5283-33_5327dup c.5343-33_5387dup c.5298-33_5342dup c.5379-33_5423dup c.5334-33_5378dup c.5319-33_5363dup | gnomAD v3 gnomAD v4 |
| 9 | g.128617608A>G | CA2579470236 | SPTAN1 | c.5394-32A>G (n.5394-32A>G) c.5358-32A>G (n.5358-32A>G) c.4821-32A>G (n.4821-32A>G) c.2981-32A>G c.968-32A>G n.586-32A>G c.5283-32A>G (n.5283-32A>G) c.5343-32A>G (n.5343-32A>G) c.5298-32A>G (n.5298-32A>G) c.5379-32A>G (n.5379-32A>G) c.5334-32A>G (n.5334-32A>G) c.5319-32A>G (n.5319-32A>G) | gnomAD v4 |
| 9 | g.128617609C>T | CA2691935441 | SPTAN1 | c.5394-31C>T (n.5394-31C>T) c.5358-31C>T (n.5358-31C>T) c.4821-31C>T (n.4821-31C>T) c.2981-31C>T c.968-31C>T n.586-31C>T c.5283-31C>T (n.5283-31C>T) c.5343-31C>T (n.5343-31C>T) c.5298-31C>T (n.5298-31C>T) c.5379-31C>T (n.5379-31C>T) c.5334-31C>T (n.5334-31C>T) c.5319-31C>T (n.5319-31C>T) | gnomAD v4 |
| 9 | g.128617610T>C | CA2720492388 | SPTAN1 | c.5394-30T>C (n.5394-30T>C) c.5358-30T>C (n.5358-30T>C) c.4821-30T>C (n.4821-30T>C) c.2981-30T>C c.968-30T>C n.586-30T>C c.5283-30T>C (n.5283-30T>C) c.5343-30T>C (n.5343-30T>C) c.5298-30T>C (n.5298-30T>C) c.5379-30T>C (n.5379-30T>C) c.5334-30T>C (n.5334-30T>C) c.5319-30T>C (n.5319-30T>C) | dbSNP |
| 9 | g.128617610T>G | CA590638522 | SPTAN1 | c.5394-30T>G (n.5394-30T>G) c.5358-30T>G (n.5358-30T>G) c.4821-30T>G (n.4821-30T>G) c.2981-30T>G c.968-30T>G n.586-30T>G c.5283-30T>G (n.5283-30T>G) c.5343-30T>G (n.5343-30T>G) c.5298-30T>G (n.5298-30T>G) c.5379-30T>G (n.5379-30T>G) c.5334-30T>G (n.5334-30T>G) c.5319-30T>G (n.5319-30T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617610T= | CA1880364142 | SPTAN1 | c.5394-30T= (n.5394-30T=) c.5358-30T= (n.5358-30T=) c.4821-30T= (n.4821-30T=) c.2981-30T= c.968-30T= n.586-30T= c.5283-30T= (n.5283-30T=) c.5343-30T= (n.5343-30T=) c.5298-30T= (n.5298-30T=) c.5379-30T= (n.5379-30T=) c.5334-30T= (n.5334-30T=) c.5319-30T= (n.5319-30T=) | |
| 9 | g.128617610_128617618delinsTGACTGTGC | CA1880364143 | SPTAN1 | c.5394-30_5394-22delinsTGACTGTGC (n.5394-30_5394-22delinsTGACTGTGC) c.5358-30_5358-22delinsTGACTGTGC (n.5358-30_5358-22delinsTGACTGTGC) c.4821-30_4821-22delinsTGACTGTGC (n.4821-30_4821-22delinsTGACTGTGC) c.2981-30_2981-22delinsTGACTGTGC c.968-30_968-22delinsTGACTGTGC n.586-30_586-22delinsTGACTGTGC c.5283-30_5283-22delinsTGACTGTGC (n.5283-30_5283-22delinsTGACTGTGC) c.5343-30_5343-22delinsTGACTGTGC (n.5343-30_5343-22delinsTGACTGTGC) c.5298-30_5298-22delinsTGACTGTGC (n.5298-30_5298-22delinsTGACTGTGC) c.5379-30_5379-22delinsTGACTGTGC (n.5379-30_5379-22delinsTGACTGTGC) c.5334-30_5334-22delinsTGACTGTGC (n.5334-30_5334-22delinsTGACTGTGC) c.5319-30_5319-22delinsTGACTGTGC (n.5319-30_5319-22delinsTGACTGTGC) | |
| 9 | g.128617611_128617618del | CA590638524 | SPTAN1 | c.5394-29_5394-22del (n.5394-29_5394-22del) c.5358-29_5358-22del (n.5358-29_5358-22del) c.4821-29_4821-22del (n.4821-29_4821-22del) c.2981-29_2981-22del c.968-29_968-22del n.586-29_586-22del c.5283-29_5283-22del (n.5283-29_5283-22del) c.5343-29_5343-22del (n.5343-29_5343-22del) c.5298-29_5298-22del (n.5298-29_5298-22del) c.5379-29_5379-22del (n.5379-29_5379-22del) c.5334-29_5334-22del (n.5334-29_5334-22del) c.5319-29_5319-22del (n.5319-29_5319-22del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617613C= | CA1880364145 | SPTAN1 | c.5394-27C= (n.5394-27C=) c.5358-27C= (n.5358-27C=) c.4821-27C= (n.4821-27C=) c.2981-27C= c.968-27C= n.586-27C= c.5283-27C= (n.5283-27C=) c.5343-27C= (n.5343-27C=) c.5298-27C= (n.5298-27C=) c.5379-27C= (n.5379-27C=) c.5334-27C= (n.5334-27C=) c.5319-27C= (n.5319-27C=) | |
| 9 | g.128617613C>T | CA5265439 | SPTAN1 | c.5394-27C>T (n.5394-27C>T) c.5358-27C>T (n.5358-27C>T) c.4821-27C>T (n.4821-27C>T) c.2981-27C>T c.968-27C>T n.586-27C>T c.5283-27C>T (n.5283-27C>T) c.5343-27C>T (n.5343-27C>T) c.5298-27C>T (n.5298-27C>T) c.5379-27C>T (n.5379-27C>T) c.5334-27C>T (n.5334-27C>T) c.5319-27C>T (n.5319-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617613_128617615delinsCTG | CA1880364144 | SPTAN1 | c.5394-27_5394-25delinsCTG (n.5394-27_5394-25delinsCTG) c.5358-27_5358-25delinsCTG (n.5358-27_5358-25delinsCTG) c.4821-27_4821-25delinsCTG (n.4821-27_4821-25delinsCTG) c.2981-27_2981-25delinsCTG c.968-27_968-25delinsCTG n.586-27_586-25delinsCTG c.5283-27_5283-25delinsCTG (n.5283-27_5283-25delinsCTG) c.5343-27_5343-25delinsCTG (n.5343-27_5343-25delinsCTG) c.5298-27_5298-25delinsCTG (n.5298-27_5298-25delinsCTG) c.5379-27_5379-25delinsCTG (n.5379-27_5379-25delinsCTG) c.5334-27_5334-25delinsCTG (n.5334-27_5334-25delinsCTG) c.5319-27_5319-25delinsCTG (n.5319-27_5319-25delinsCTG) | |
| 9 | g.128617614T>C | CA2691935445 | SPTAN1 | c.5394-26T>C (n.5394-26T>C) c.5358-26T>C (n.5358-26T>C) c.4821-26T>C (n.4821-26T>C) c.2981-26T>C c.968-26T>C n.586-26T>C c.5283-26T>C (n.5283-26T>C) c.5343-26T>C (n.5343-26T>C) c.5298-26T>C (n.5298-26T>C) c.5379-26T>C (n.5379-26T>C) c.5334-26T>C (n.5334-26T>C) c.5319-26T>C (n.5319-26T>C) | gnomAD v4 |
| 9 | g.128617614T>G | CA1880364146 | SPTAN1 | c.5394-26T>G (n.5394-26T>G) c.5358-26T>G (n.5358-26T>G) c.4821-26T>G (n.4821-26T>G) c.2981-26T>G c.968-26T>G n.586-26T>G c.5283-26T>G (n.5283-26T>G) c.5343-26T>G (n.5343-26T>G) c.5298-26T>G (n.5298-26T>G) c.5379-26T>G (n.5379-26T>G) c.5334-26T>G (n.5334-26T>G) c.5319-26T>G (n.5319-26T>G) | dbSNP |
| 9 | g.128617614T= | CA1880364147 | SPTAN1 | c.5394-26T= (n.5394-26T=) c.5358-26T= (n.5358-26T=) c.4821-26T= (n.4821-26T=) c.2981-26T= c.968-26T= n.586-26T= c.5283-26T= (n.5283-26T=) c.5343-26T= (n.5343-26T=) c.5298-26T= (n.5298-26T=) c.5379-26T= (n.5379-26T=) c.5334-26T= (n.5334-26T=) c.5319-26T= (n.5319-26T=) | |
| 9 | g.128617616_128617617del | CA5265440 | SPTAN1 | c.5394-24_5394-23del (n.5394-24_5394-23del) c.5358-24_5358-23del (n.5358-24_5358-23del) c.4821-24_4821-23del (n.4821-24_4821-23del) c.2981-24_2981-23del c.968-24_968-23del n.586-24_586-23del c.5283-24_5283-23del (n.5283-24_5283-23del) c.5343-24_5343-23del (n.5343-24_5343-23del) c.5298-24_5298-23del (n.5298-24_5298-23del) c.5379-24_5379-23del (n.5379-24_5379-23del) c.5334-24_5334-23del (n.5334-24_5334-23del) c.5319-24_5319-23del (n.5319-24_5319-23del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617615G>A | CA5265441 | SPTAN1 | c.5394-25G>A (n.5394-25G>A) c.5358-25G>A (n.5358-25G>A) c.4821-25G>A (n.4821-25G>A) c.2981-25G>A c.968-25G>A n.586-25G>A c.5283-25G>A (n.5283-25G>A) c.5343-25G>A (n.5343-25G>A) c.5298-25G>A (n.5298-25G>A) c.5379-25G>A (n.5379-25G>A) c.5334-25G>A (n.5334-25G>A) c.5319-25G>A (n.5319-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617615G>C | CA1880364149 | SPTAN1 | c.5394-25G>C (n.5394-25G>C) c.5358-25G>C (n.5358-25G>C) c.4821-25G>C (n.4821-25G>C) c.2981-25G>C c.968-25G>C n.586-25G>C c.5283-25G>C (n.5283-25G>C) c.5343-25G>C (n.5343-25G>C) c.5298-25G>C (n.5298-25G>C) c.5379-25G>C (n.5379-25G>C) c.5334-25G>C (n.5334-25G>C) c.5319-25G>C (n.5319-25G>C) | dbSNP |
| 9 | g.128617615G= | CA1880364148 | SPTAN1 | c.5394-25G= (n.5394-25G=) c.5358-25G= (n.5358-25G=) c.4821-25G= (n.4821-25G=) c.2981-25G= c.968-25G= n.586-25G= c.5283-25G= (n.5283-25G=) c.5343-25G= (n.5343-25G=) c.5298-25G= (n.5298-25G=) c.5379-25G= (n.5379-25G=) c.5334-25G= (n.5334-25G=) c.5319-25G= (n.5319-25G=) | |
| 9 | g.128617617G>A | CA590638528 | SPTAN1 | c.5394-23G>A (n.5394-23G>A) c.5358-23G>A (n.5358-23G>A) c.4821-23G>A (n.4821-23G>A) c.2981-23G>A c.968-23G>A n.586-23G>A c.5283-23G>A (n.5283-23G>A) c.5343-23G>A (n.5343-23G>A) c.5298-23G>A (n.5298-23G>A) c.5379-23G>A (n.5379-23G>A) c.5334-23G>A (n.5334-23G>A) c.5319-23G>A (n.5319-23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617617G= | CA1880364150 | SPTAN1 | c.5394-23G= (n.5394-23G=) c.5358-23G= (n.5358-23G=) c.4821-23G= (n.4821-23G=) c.2981-23G= c.968-23G= n.586-23G= c.5283-23G= (n.5283-23G=) c.5343-23G= (n.5343-23G=) c.5298-23G= (n.5298-23G=) c.5379-23G= (n.5379-23G=) c.5334-23G= (n.5334-23G=) c.5319-23G= (n.5319-23G=) | |
| 9 | g.128617617G>T | CA1880364151 | SPTAN1 | c.5394-23G>T (n.5394-23G>T) c.5358-23G>T (n.5358-23G>T) c.4821-23G>T (n.4821-23G>T) c.2981-23G>T c.968-23G>T n.586-23G>T c.5283-23G>T (n.5283-23G>T) c.5343-23G>T (n.5343-23G>T) c.5298-23G>T (n.5298-23G>T) c.5379-23G>T (n.5379-23G>T) c.5334-23G>T (n.5334-23G>T) c.5319-23G>T (n.5319-23G>T) | dbSNP |
| 9 | g.128617618C= | CA1880364152 | SPTAN1 | c.5394-22C= (n.5394-22C=) c.5358-22C= (n.5358-22C=) c.4821-22C= (n.4821-22C=) c.2981-22C= c.968-22C= n.586-22C= c.5283-22C= (n.5283-22C=) c.5343-22C= (n.5343-22C=) c.5298-22C= (n.5298-22C=) c.5379-22C= (n.5379-22C=) c.5334-22C= (n.5334-22C=) c.5319-22C= (n.5319-22C=) | |
| 9 | g.128617618C>G | CA2691935451 | SPTAN1 | c.5394-22C>G (n.5394-22C>G) c.5358-22C>G (n.5358-22C>G) c.4821-22C>G (n.4821-22C>G) c.2981-22C>G c.968-22C>G n.586-22C>G c.5283-22C>G (n.5283-22C>G) c.5343-22C>G (n.5343-22C>G) c.5298-22C>G (n.5298-22C>G) c.5379-22C>G (n.5379-22C>G) c.5334-22C>G (n.5334-22C>G) c.5319-22C>G (n.5319-22C>G) | gnomAD v4 |
| 9 | g.128617618C>T | CA1880364153 | SPTAN1 | c.5394-22C>T (n.5394-22C>T) c.5358-22C>T (n.5358-22C>T) c.4821-22C>T (n.4821-22C>T) c.2981-22C>T c.968-22C>T n.586-22C>T c.5283-22C>T (n.5283-22C>T) c.5343-22C>T (n.5343-22C>T) c.5298-22C>T (n.5298-22C>T) c.5379-22C>T (n.5379-22C>T) c.5334-22C>T (n.5334-22C>T) c.5319-22C>T (n.5319-22C>T) | dbSNP |
| 9 | g.128617619T>C | CA2691935452 | SPTAN1 | c.5394-21T>C (n.5394-21T>C) c.5358-21T>C (n.5358-21T>C) c.4821-21T>C (n.4821-21T>C) c.2981-21T>C c.968-21T>C n.586-21T>C c.5283-21T>C (n.5283-21T>C) c.5343-21T>C (n.5343-21T>C) c.5298-21T>C (n.5298-21T>C) c.5379-21T>C (n.5379-21T>C) c.5334-21T>C (n.5334-21T>C) c.5319-21T>C (n.5319-21T>C) | gnomAD v4 |
| 9 | g.128617620G>A | CA5265442 | SPTAN1 | c.5394-20G>A (n.5394-20G>A) c.5358-20G>A (n.5358-20G>A) c.4821-20G>A (n.4821-20G>A) c.2981-20G>A c.968-20G>A n.586-20G>A c.5283-20G>A (n.5283-20G>A) c.5343-20G>A (n.5343-20G>A) c.5298-20G>A (n.5298-20G>A) c.5379-20G>A (n.5379-20G>A) c.5334-20G>A (n.5334-20G>A) c.5319-20G>A (n.5319-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617620G>C | CA1880364155 | SPTAN1 | c.5394-20G>C (n.5394-20G>C) c.5358-20G>C (n.5358-20G>C) c.4821-20G>C (n.4821-20G>C) c.2981-20G>C c.968-20G>C n.586-20G>C c.5283-20G>C (n.5283-20G>C) c.5343-20G>C (n.5343-20G>C) c.5298-20G>C (n.5298-20G>C) c.5379-20G>C (n.5379-20G>C) c.5334-20G>C (n.5334-20G>C) c.5319-20G>C (n.5319-20G>C) | dbSNP |
| 9 | g.128617620G= | CA1880364154 | SPTAN1 | c.5394-20G= (n.5394-20G=) c.5358-20G= (n.5358-20G=) c.4821-20G= (n.4821-20G=) c.2981-20G= c.968-20G= n.586-20G= c.5283-20G= (n.5283-20G=) c.5343-20G= (n.5343-20G=) c.5298-20G= (n.5298-20G=) c.5379-20G= (n.5379-20G=) c.5334-20G= (n.5334-20G=) c.5319-20G= (n.5319-20G=) | |
| 9 | g.128617621T>C | CA200401575 | SPTAN1 | c.5394-19T>C (n.5394-19T>C) c.5358-19T>C (n.5358-19T>C) c.4821-19T>C (n.4821-19T>C) c.2981-19T>C c.968-19T>C n.586-19T>C c.5283-19T>C (n.5283-19T>C) c.5343-19T>C (n.5343-19T>C) c.5298-19T>C (n.5298-19T>C) c.5379-19T>C (n.5379-19T>C) c.5334-19T>C (n.5334-19T>C) c.5319-19T>C (n.5319-19T>C) | dbSNP gnomAD v4 |
| 9 | g.128617621T= | CA1880364156 | SPTAN1 | c.5394-19T= (n.5394-19T=) c.5358-19T= (n.5358-19T=) c.4821-19T= (n.4821-19T=) c.2981-19T= c.968-19T= n.586-19T= c.5283-19T= (n.5283-19T=) c.5343-19T= (n.5343-19T=) c.5298-19T= (n.5298-19T=) c.5379-19T= (n.5379-19T=) c.5334-19T= (n.5334-19T=) c.5319-19T= (n.5319-19T=) | |
| 9 | g.128617622T>A | CA5265443 | SPTAN1 | c.5394-18T>A (n.5394-18T>A) c.5358-18T>A (n.5358-18T>A) c.4821-18T>A (n.4821-18T>A) c.2981-18T>A c.968-18T>A n.586-18T>A c.5283-18T>A (n.5283-18T>A) c.5343-18T>A (n.5343-18T>A) c.5298-18T>A (n.5298-18T>A) c.5379-18T>A (n.5379-18T>A) c.5334-18T>A (n.5334-18T>A) c.5319-18T>A (n.5319-18T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617622T= | CA1880364157 | SPTAN1 | c.5394-18T= (n.5394-18T=) c.5358-18T= (n.5358-18T=) c.4821-18T= (n.4821-18T=) c.2981-18T= c.968-18T= n.586-18T= c.5283-18T= (n.5283-18T=) c.5343-18T= (n.5343-18T=) c.5298-18T= (n.5298-18T=) c.5379-18T= (n.5379-18T=) c.5334-18T= (n.5334-18T=) c.5319-18T= (n.5319-18T=) | |
| 9 | g.128617623T>A | CA1880364159 | SPTAN1 | c.5394-17T>A (n.5394-17T>A) c.5358-17T>A (n.5358-17T>A) c.4821-17T>A (n.4821-17T>A) c.2981-17T>A c.968-17T>A n.586-17T>A c.5283-17T>A (n.5283-17T>A) c.5343-17T>A (n.5343-17T>A) c.5298-17T>A (n.5298-17T>A) c.5379-17T>A (n.5379-17T>A) c.5334-17T>A (n.5334-17T>A) c.5319-17T>A (n.5319-17T>A) | dbSNP gnomAD v4 |
| 9 | g.128617623T= | CA1880364158 | SPTAN1 | c.5394-17T= (n.5394-17T=) c.5358-17T= (n.5358-17T=) c.4821-17T= (n.4821-17T=) c.2981-17T= c.968-17T= n.586-17T= c.5283-17T= (n.5283-17T=) c.5343-17T= (n.5343-17T=) c.5298-17T= (n.5298-17T=) c.5379-17T= (n.5379-17T=) c.5334-17T= (n.5334-17T=) c.5319-17T= (n.5319-17T=) | |
| 9 | g.128617624C= | CA1880364160 | SPTAN1 | c.5394-16C= (n.5394-16C=) c.5358-16C= (n.5358-16C=) c.4821-16C= (n.4821-16C=) c.2981-16C= c.968-16C= n.586-16C= c.5283-16C= (n.5283-16C=) c.5343-16C= (n.5343-16C=) c.5298-16C= (n.5298-16C=) c.5379-16C= (n.5379-16C=) c.5334-16C= (n.5334-16C=) c.5319-16C= (n.5319-16C=) | |
| 9 | g.128617624C>G | CA860270032 | SPTAN1 | c.5394-16C>G (n.5394-16C>G) c.5358-16C>G (n.5358-16C>G) c.4821-16C>G (n.4821-16C>G) c.2981-16C>G c.968-16C>G n.586-16C>G c.5283-16C>G (n.5283-16C>G) c.5343-16C>G (n.5343-16C>G) c.5298-16C>G (n.5298-16C>G) c.5379-16C>G (n.5379-16C>G) c.5334-16C>G (n.5334-16C>G) c.5319-16C>G (n.5319-16C>G) | ClinVar dbSNP |
| 9 | g.128617624C>T | CA293742 | SPTAN1 | c.5394-16C>T (n.5394-16C>T) c.5358-16C>T (n.5358-16C>T) c.4821-16C>T (n.4821-16C>T) c.2981-16C>T c.968-16C>T n.586-16C>T c.5283-16C>T (n.5283-16C>T) c.5343-16C>T (n.5343-16C>T) c.5298-16C>T (n.5298-16C>T) c.5379-16C>T (n.5379-16C>T) c.5334-16C>T (n.5334-16C>T) c.5319-16C>T (n.5319-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617625C>T | CA2580079879 | SPTAN1 | c.5394-15C>T (n.5394-15C>T) c.5358-15C>T (n.5358-15C>T) c.4821-15C>T (n.4821-15C>T) c.2981-15C>T c.968-15C>T n.586-15C>T c.5283-15C>T (n.5283-15C>T) c.5343-15C>T (n.5343-15C>T) c.5298-15C>T (n.5298-15C>T) c.5379-15C>T (n.5379-15C>T) c.5334-15C>T (n.5334-15C>T) c.5319-15C>T (n.5319-15C>T) | ClinVar |
| 9 | g.128617626C>A | CA2579470237 | SPTAN1 | c.5394-14C>A (n.5394-14C>A) c.5358-14C>A (n.5358-14C>A) c.4821-14C>A (n.4821-14C>A) c.2981-14C>A c.968-14C>A n.586-14C>A c.5283-14C>A (n.5283-14C>A) c.5343-14C>A (n.5343-14C>A) c.5298-14C>A (n.5298-14C>A) c.5379-14C>A (n.5379-14C>A) c.5334-14C>A (n.5334-14C>A) c.5319-14C>A (n.5319-14C>A) | |
| 9 | g.128617626C>G | CA2579470238 | SPTAN1 | c.5394-14C>G (n.5394-14C>G) c.5358-14C>G (n.5358-14C>G) c.4821-14C>G (n.4821-14C>G) c.2981-14C>G c.968-14C>G n.586-14C>G c.5283-14C>G (n.5283-14C>G) c.5343-14C>G (n.5343-14C>G) c.5298-14C>G (n.5298-14C>G) c.5379-14C>G (n.5379-14C>G) c.5334-14C>G (n.5334-14C>G) c.5319-14C>G (n.5319-14C>G) | |
| 9 | g.128617626C>T | CA2573143906 | SPTAN1 | c.5394-14C>T (n.5394-14C>T) c.5358-14C>T (n.5358-14C>T) c.4821-14C>T (n.4821-14C>T) c.2981-14C>T c.968-14C>T n.586-14C>T c.5283-14C>T (n.5283-14C>T) c.5343-14C>T (n.5343-14C>T) c.5298-14C>T (n.5298-14C>T) c.5379-14C>T (n.5379-14C>T) c.5334-14C>T (n.5334-14C>T) c.5319-14C>T (n.5319-14C>T) | ClinVar dbSNP |
| 9 | g.128617627A= | CA1880364161 | SPTAN1 | c.5394-13A= (n.5394-13A=) c.5358-13A= (n.5358-13A=) c.4821-13A= (n.4821-13A=) c.2981-13A= c.968-13A= n.586-13A= c.5283-13A= (n.5283-13A=) c.5343-13A= (n.5343-13A=) c.5298-13A= (n.5298-13A=) c.5379-13A= (n.5379-13A=) c.5334-13A= (n.5334-13A=) c.5319-13A= (n.5319-13A=) | |
| 9 | g.128617627A>G | CA590638533 | SPTAN1 | c.5394-13A>G (n.5394-13A>G) c.5358-13A>G (n.5358-13A>G) c.4821-13A>G (n.4821-13A>G) c.2981-13A>G c.968-13A>G n.586-13A>G c.5283-13A>G (n.5283-13A>G) c.5343-13A>G (n.5343-13A>G) c.5298-13A>G (n.5298-13A>G) c.5379-13A>G (n.5379-13A>G) c.5334-13A>G (n.5334-13A>G) c.5319-13A>G (n.5319-13A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617627A>T | CA590638531 | SPTAN1 | c.5394-13A>T (n.5394-13A>T) c.5358-13A>T (n.5358-13A>T) c.4821-13A>T (n.4821-13A>T) c.2981-13A>T c.968-13A>T n.586-13A>T c.5283-13A>T (n.5283-13A>T) c.5343-13A>T (n.5343-13A>T) c.5298-13A>T (n.5298-13A>T) c.5379-13A>T (n.5379-13A>T) c.5334-13A>T (n.5334-13A>T) c.5319-13A>T (n.5319-13A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617627_128617629delinsATC | CA1880364162 | SPTAN1 | c.5394-13_5394-11delinsATC (n.5394-13_5394-11delinsATC) c.5358-13_5358-11delinsATC (n.5358-13_5358-11delinsATC) c.4821-13_4821-11delinsATC (n.4821-13_4821-11delinsATC) c.2981-13_2981-11delinsATC c.968-13_968-11delinsATC n.586-13_586-11delinsATC c.5283-13_5283-11delinsATC (n.5283-13_5283-11delinsATC) c.5343-13_5343-11delinsATC (n.5343-13_5343-11delinsATC) c.5298-13_5298-11delinsATC (n.5298-13_5298-11delinsATC) c.5379-13_5379-11delinsATC (n.5379-13_5379-11delinsATC) c.5334-13_5334-11delinsATC (n.5334-13_5334-11delinsATC) c.5319-13_5319-11delinsATC (n.5319-13_5319-11delinsATC) | |
| 9 | g.128617632_128617633del | CA5265444 | SPTAN1 | c.5394-8_5394-7del (n.5394-8_5394-7del) c.5358-8_5358-7del (n.5358-8_5358-7del) c.4821-8_4821-7del (n.4821-8_4821-7del) c.2981-8_2981-7del c.968-8_968-7del n.586-8_586-7del c.5283-8_5283-7del (n.5283-8_5283-7del) c.5343-8_5343-7del (n.5343-8_5343-7del) c.5298-8_5298-7del (n.5298-8_5298-7del) c.5379-8_5379-7del (n.5379-8_5379-7del) c.5334-8_5334-7del (n.5334-8_5334-7del) c.5319-8_5319-7del (n.5319-8_5319-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617629C>T | CA2691935468 | SPTAN1 | c.5394-11C>T (n.5394-11C>T) c.5358-11C>T (n.5358-11C>T) c.4821-11C>T (n.4821-11C>T) c.2981-11C>T c.968-11C>T n.586-11C>T c.5283-11C>T (n.5283-11C>T) c.5343-11C>T (n.5343-11C>T) c.5298-11C>T (n.5298-11C>T) c.5379-11C>T (n.5379-11C>T) c.5334-11C>T (n.5334-11C>T) c.5319-11C>T (n.5319-11C>T) | gnomAD v4 |
| 9 | g.128617630T>C | CA2691935469 | SPTAN1 | c.5394-10T>C (n.5394-10T>C) c.5358-10T>C (n.5358-10T>C) c.4821-10T>C (n.4821-10T>C) c.2981-10T>C c.968-10T>C n.586-10T>C c.5283-10T>C (n.5283-10T>C) c.5343-10T>C (n.5343-10T>C) c.5298-10T>C (n.5298-10T>C) c.5379-10T>C (n.5379-10T>C) c.5334-10T>C (n.5334-10T>C) c.5319-10T>C (n.5319-10T>C) | gnomAD v4 |
| 9 | g.128617634A= | CA1880364163 | SPTAN1 | c.5394-6A= (n.5394-6A=) c.5358-6A= (n.5358-6A=) c.4821-6A= (n.4821-6A=) c.2981-6A= c.968-6A= n.586-6A= c.5283-6A= (n.5283-6A=) c.5343-6A= (n.5343-6A=) c.5298-6A= (n.5298-6A=) c.5379-6A= (n.5379-6A=) c.5334-6A= (n.5334-6A=) c.5319-6A= (n.5319-6A=) | |
| 9 | g.128617634A>C | CA2579470239 | SPTAN1 | c.5394-6A>C (n.5394-6A>C) c.5358-6A>C (n.5358-6A>C) c.4821-6A>C (n.4821-6A>C) c.2981-6A>C c.968-6A>C n.586-6A>C c.5283-6A>C (n.5283-6A>C) c.5343-6A>C (n.5343-6A>C) c.5298-6A>C (n.5298-6A>C) c.5379-6A>C (n.5379-6A>C) c.5334-6A>C (n.5334-6A>C) c.5319-6A>C (n.5319-6A>C) | gnomAD v4 |
| 9 | g.128617634A>G | CA5265445 | SPTAN1 | c.5394-6A>G (n.5394-6A>G) c.5358-6A>G (n.5358-6A>G) c.4821-6A>G (n.4821-6A>G) c.2981-6A>G c.968-6A>G n.586-6A>G c.5283-6A>G (n.5283-6A>G) c.5343-6A>G (n.5343-6A>G) c.5298-6A>G (n.5298-6A>G) c.5379-6A>G (n.5379-6A>G) c.5334-6A>G (n.5334-6A>G) c.5319-6A>G (n.5319-6A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617635T>A | CA16605615 | SPTAN1 | c.5394-5T>A (n.5394-5T>A) c.5358-5T>A (n.5358-5T>A) c.4821-5T>A (n.4821-5T>A) c.2981-5T>A c.968-5T>A n.586-5T>A c.5283-5T>A (n.5283-5T>A) c.5343-5T>A (n.5343-5T>A) c.5298-5T>A (n.5298-5T>A) c.5379-5T>A (n.5379-5T>A) c.5334-5T>A (n.5334-5T>A) c.5319-5T>A (n.5319-5T>A) | ClinVar dbSNP |
| 9 | g.128617635T>C | CA860270041 | SPTAN1 | c.5394-5T>C (n.5394-5T>C) c.5358-5T>C (n.5358-5T>C) c.4821-5T>C (n.4821-5T>C) c.2981-5T>C c.968-5T>C n.586-5T>C c.5283-5T>C (n.5283-5T>C) c.5343-5T>C (n.5343-5T>C) c.5298-5T>C (n.5298-5T>C) c.5379-5T>C (n.5379-5T>C) c.5334-5T>C (n.5334-5T>C) c.5319-5T>C (n.5319-5T>C) | dbSNP |
| 9 | g.128617635T= | CA1880364164 | SPTAN1 | c.5394-5T= (n.5394-5T=) c.5358-5T= (n.5358-5T=) c.4821-5T= (n.4821-5T=) c.2981-5T= c.968-5T= n.586-5T= c.5283-5T= (n.5283-5T=) c.5343-5T= (n.5343-5T=) c.5298-5T= (n.5298-5T=) c.5379-5T= (n.5379-5T=) c.5334-5T= (n.5334-5T=) c.5319-5T= (n.5319-5T=) | |
| 9 | g.128617637C= | CA1880364165 | SPTAN1 | c.5394-3C= (n.5394-3C=) c.5358-3C= (n.5358-3C=) c.4821-3C= (n.4821-3C=) c.2981-3C= c.968-3C= n.586-3C= c.5283-3C= (n.5283-3C=) c.5343-3C= (n.5343-3C=) c.5298-3C= (n.5298-3C=) c.5379-3C= (n.5379-3C=) c.5334-3C= (n.5334-3C=) c.5319-3C= (n.5319-3C=) | |
| 9 | g.128617637C>G | CA1880364166 | SPTAN1 | c.5394-3C>G (n.5394-3C>G) c.5358-3C>G (n.5358-3C>G) c.4821-3C>G (n.4821-3C>G) c.2981-3C>G c.968-3C>G n.586-3C>G c.5283-3C>G (n.5283-3C>G) c.5343-3C>G (n.5343-3C>G) c.5298-3C>G (n.5298-3C>G) c.5379-3C>G (n.5379-3C>G) c.5334-3C>G (n.5334-3C>G) c.5319-3C>G (n.5319-3C>G) | dbSNP gnomAD v4 |
| 9 | g.128617638A= | CA1880364167 | SPTAN1 | c.5394-2A= (n.5394-2A=) c.5358-2A= (n.5358-2A=) c.4821-2A= (n.4821-2A=) c.2981-2A= c.968-2A= n.586-2A= c.5283-2A= (n.5283-2A=) c.5343-2A= (n.5343-2A=) c.5298-2A= (n.5298-2A=) c.5379-2A= (n.5379-2A=) c.5334-2A= (n.5334-2A=) c.5319-2A= (n.5319-2A=) | |
| 9 | g.128617638A>C | CA375075644 | SPTAN1 | c.5394-2A>C (n.5394-2A>C) c.5358-2A>C (n.5358-2A>C) c.4821-2A>C (n.4821-2A>C) c.2981-2A>C c.968-2A>C n.586-2A>C c.5283-2A>C (n.5283-2A>C) c.5343-2A>C (n.5343-2A>C) c.5298-2A>C (n.5298-2A>C) c.5379-2A>C (n.5379-2A>C) c.5334-2A>C (n.5334-2A>C) c.5319-2A>C (n.5319-2A>C) | |
| 9 | g.128617638A>G | CA375075639 | SPTAN1 | c.5394-2A>G (n.5394-2A>G) c.5358-2A>G (n.5358-2A>G) c.4821-2A>G (n.4821-2A>G) c.2981-2A>G c.968-2A>G n.586-2A>G c.5283-2A>G (n.5283-2A>G) c.5343-2A>G (n.5343-2A>G) c.5298-2A>G (n.5298-2A>G) c.5379-2A>G (n.5379-2A>G) c.5334-2A>G (n.5334-2A>G) c.5319-2A>G (n.5319-2A>G) | |
| 9 | g.128617638A>T | CA375075642 | SPTAN1 | c.5394-2A>T (n.5394-2A>T) c.5358-2A>T (n.5358-2A>T) c.4821-2A>T (n.4821-2A>T) c.2981-2A>T c.968-2A>T n.586-2A>T c.5283-2A>T (n.5283-2A>T) c.5343-2A>T (n.5343-2A>T) c.5298-2A>T (n.5298-2A>T) c.5379-2A>T (n.5379-2A>T) c.5334-2A>T (n.5334-2A>T) c.5319-2A>T (n.5319-2A>T) | dbSNP |
| 9 | g.128617639G>A | CA375075647 | SPTAN1 | c.5394-1G>A (n.5394-1G>A) c.5358-1G>A (n.5358-1G>A) c.4821-1G>A (n.4821-1G>A) c.2981-1G>A c.968-1G>A n.586-1G>A c.5283-1G>A (n.5283-1G>A) c.5343-1G>A (n.5343-1G>A) c.5298-1G>A (n.5298-1G>A) c.5379-1G>A (n.5379-1G>A) c.5334-1G>A (n.5334-1G>A) c.5319-1G>A (n.5319-1G>A) | |
| 9 | g.128617639G>C | CA375075650 | SPTAN1 | c.5394-1G>C (n.5394-1G>C) c.5358-1G>C (n.5358-1G>C) c.4821-1G>C (n.4821-1G>C) c.2981-1G>C c.968-1G>C n.586-1G>C c.5283-1G>C (n.5283-1G>C) c.5343-1G>C (n.5343-1G>C) c.5298-1G>C (n.5298-1G>C) c.5379-1G>C (n.5379-1G>C) c.5334-1G>C (n.5334-1G>C) c.5319-1G>C (n.5319-1G>C) | |
| 9 | g.128617639G>T | CA375075656 | SPTAN1 | c.5394-1G>T (n.5394-1G>T) c.5358-1G>T (n.5358-1G>T) c.4821-1G>T (n.4821-1G>T) c.2981-1G>T c.968-1G>T n.586-1G>T c.5283-1G>T (n.5283-1G>T) c.5343-1G>T (n.5343-1G>T) c.5298-1G>T (n.5298-1G>T) c.5379-1G>T (n.5379-1G>T) c.5334-1G>T (n.5334-1G>T) c.5319-1G>T (n.5319-1G>T) | |
| 9 | g.128617640G>A | CA5265446 | SPTAN1 | c.5394G>A (p.Lys1798=) c.5358G>A (p.Lys1786=) c.4821G>A (p.Lys1607=) c.2981G>A c.968G>A n.586G>A c.5283G>A (p.Lys1761=) c.5343G>A (p.Lys1781=) c.5298G>A (p.Lys1766=) c.5379G>A (p.Lys1793=) c.5334G>A (p.Lys1778=) c.5319G>A (p.Lys1773=) | dbSNP ExAC gnomAD v2 |
| 9 | g.128617640G>C | CA375075659 | SPTAN1 | c.5394G>C (p.Lys1798Asn) c.5358G>C (p.Lys1786Asn) c.4821G>C (p.Lys1607Asn) c.2981G>C c.968G>C n.586G>C c.5283G>C (p.Lys1761Asn) c.5343G>C (p.Lys1781Asn) c.5298G>C (p.Lys1766Asn) c.5379G>C (p.Lys1793Asn) c.5334G>C (p.Lys1778Asn) c.5319G>C (p.Lys1773Asn) | |
| 9 | g.128617640G= | CA1880364168 | SPTAN1 | c.5394G= (p.Lys1798=) c.5358G= (p.Lys1786=) c.4821G= (p.Lys1607=) c.2981G= c.968G= n.586G= c.5283G= (p.Lys1761=) c.5343G= (p.Lys1781=) c.5298G= (p.Lys1766=) c.5379G= (p.Lys1793=) c.5334G= (p.Lys1778=) c.5319G= (p.Lys1773=) | |
| 9 | g.128617640G>T | CA375075662 | SPTAN1 | c.5394G>T (p.Lys1798Asn) c.5358G>T (p.Lys1786Asn) c.4821G>T (p.Lys1607Asn) c.2981G>T c.968G>T n.586G>T c.5283G>T (p.Lys1761Asn) c.5343G>T (p.Lys1781Asn) c.5298G>T (p.Lys1766Asn) c.5379G>T (p.Lys1793Asn) c.5334G>T (p.Lys1778Asn) c.5319G>T (p.Lys1773Asn) | |
| 9 | g.128617641G>A | CA375075665 | SPTAN1 | c.5395G>A (p.Glu1799Lys) c.5359G>A (p.Glu1787Lys) c.4822G>A (p.Glu1608Lys) c.2982G>A c.969G>A n.587G>A c.5284G>A (p.Glu1762Lys) c.5344G>A (p.Glu1782Lys) c.5299G>A (p.Glu1767Lys) c.5380G>A (p.Glu1794Lys) c.5335G>A (p.Glu1779Lys) c.5320G>A (p.Glu1774Lys) | |
| 9 | g.128617641G>C | CA375075668 | SPTAN1 | c.5395G>C (p.Glu1799Gln) c.5359G>C (p.Glu1787Gln) c.4822G>C (p.Glu1608Gln) c.2982G>C c.969G>C n.587G>C c.5284G>C (p.Glu1762Gln) c.5344G>C (p.Glu1782Gln) c.5299G>C (p.Glu1767Gln) c.5380G>C (p.Glu1794Gln) c.5335G>C (p.Glu1779Gln) c.5320G>C (p.Glu1774Gln) | |
| 9 | g.128617641G>T | CA375075671 | SPTAN1 | c.5395G>T (p.Glu1799Ter) c.5359G>T (p.Glu1787Ter) c.4822G>T (p.Glu1608Ter) c.2982G>T c.969G>T n.587G>T c.5284G>T (p.Glu1762Ter) c.5344G>T (p.Glu1782Ter) c.5299G>T (p.Glu1767Ter) c.5380G>T (p.Glu1794Ter) c.5335G>T (p.Glu1779Ter) c.5320G>T (p.Glu1774Ter) | gnomAD v4 |
| 9 | g.128617642A>C | CA375075673 | SPTAN1 | c.5396A>C (p.Glu1799Ala) c.5360A>C (p.Glu1787Ala) c.4823A>C (p.Glu1608Ala) c.2983A>C c.970A>C n.588A>C c.5285A>C (p.Glu1762Ala) c.5345A>C (p.Glu1782Ala) c.5300A>C (p.Glu1767Ala) c.5381A>C (p.Glu1794Ala) c.5336A>C (p.Glu1779Ala) c.5321A>C (p.Glu1774Ala) | |
| 9 | g.128617642A>G | CA375075676 | SPTAN1 | c.5396A>G (p.Glu1799Gly) c.5360A>G (p.Glu1787Gly) c.4823A>G (p.Glu1608Gly) c.2983A>G c.970A>G n.588A>G c.5285A>G (p.Glu1762Gly) c.5345A>G (p.Glu1782Gly) c.5300A>G (p.Glu1767Gly) c.5381A>G (p.Glu1794Gly) c.5336A>G (p.Glu1779Gly) c.5321A>G (p.Glu1774Gly) | |
| 9 | g.128617642A>T | CA375075688 | SPTAN1 | c.5396A>T (p.Glu1799Val) c.5360A>T (p.Glu1787Val) c.4823A>T (p.Glu1608Val) c.2983A>T c.970A>T n.588A>T c.5285A>T (p.Glu1762Val) c.5345A>T (p.Glu1782Val) c.5300A>T (p.Glu1767Val) c.5381A>T (p.Glu1794Val) c.5336A>T (p.Glu1779Val) c.5321A>T (p.Glu1774Val) | |
| 9 | g.128617647_128617649del | CA913142347 | SPTAN1 | c.5401_5403del (p.Lys1801del) c.5365_5367del (p.Lys1789del) c.4828_4830del (p.Lys1610del) c.2988_2990del c.975_977del n.593_595del c.5290_5292del (p.Lys1764del) c.5350_5352del (p.Lys1784del) c.5305_5307del (p.Lys1769del) c.5386_5388del (p.Lys1796del) c.5341_5343del (p.Lys1781del) c.5326_5328del (p.Lys1776del) | gnomAD v4 |
| 9 | g.128617643G>A | CA5265447 | SPTAN1 | c.5397G>A (p.Glu1799=) c.5361G>A (p.Glu1787=) c.4824G>A (p.Glu1608=) c.2984G>A c.971G>A n.589G>A c.5286G>A (p.Glu1762=) c.5346G>A (p.Glu1782=) c.5301G>A (p.Glu1767=) c.5382G>A (p.Glu1794=) c.5337G>A (p.Glu1779=) c.5322G>A (p.Glu1774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617643G>C | CA375075695 | SPTAN1 | c.5397G>C (p.Glu1799Asp) c.5361G>C (p.Glu1787Asp) c.4824G>C (p.Glu1608Asp) c.2984G>C c.971G>C n.589G>C c.5286G>C (p.Glu1762Asp) c.5346G>C (p.Glu1782Asp) c.5301G>C (p.Glu1767Asp) c.5382G>C (p.Glu1794Asp) c.5337G>C (p.Glu1779Asp) c.5322G>C (p.Glu1774Asp) | |
| 9 | g.128617643G= | CA1880364169 | SPTAN1 | c.5397G= (p.Glu1799=) c.5361G= (p.Glu1787=) c.4824G= (p.Glu1608=) c.2984G= c.971G= n.589G= c.5286G= (p.Glu1762=) c.5346G= (p.Glu1782=) c.5301G= (p.Glu1767=) c.5382G= (p.Glu1794=) c.5337G= (p.Glu1779=) c.5322G= (p.Glu1774=) | |
| 9 | g.128617643G>T | CA375075694 | SPTAN1 | c.5397G>T (p.Glu1799Asp) c.5361G>T (p.Glu1787Asp) c.4824G>T (p.Glu1608Asp) c.2984G>T c.971G>T n.589G>T c.5286G>T (p.Glu1762Asp) c.5346G>T (p.Glu1782Asp) c.5301G>T (p.Glu1767Asp) c.5382G>T (p.Glu1794Asp) c.5337G>T (p.Glu1779Asp) c.5322G>T (p.Glu1774Asp) | |
| 9 | g.128617644A>C | CA375075708 | SPTAN1 | c.5398A>C (p.Lys1800Gln) c.5362A>C (p.Lys1788Gln) c.4825A>C (p.Lys1609Gln) c.2985A>C c.972A>C n.590A>C c.5287A>C (p.Lys1763Gln) c.5347A>C (p.Lys1783Gln) c.5302A>C (p.Lys1768Gln) c.5383A>C (p.Lys1795Gln) c.5338A>C (p.Lys1780Gln) c.5323A>C (p.Lys1775Gln) | |
| 9 | g.128617644A>G | CA375075711 | SPTAN1 | c.5398A>G (p.Lys1800Glu) c.5362A>G (p.Lys1788Glu) c.4825A>G (p.Lys1609Glu) c.2985A>G c.972A>G n.590A>G c.5287A>G (p.Lys1763Glu) c.5347A>G (p.Lys1783Glu) c.5302A>G (p.Lys1768Glu) c.5383A>G (p.Lys1795Glu) c.5338A>G (p.Lys1780Glu) c.5323A>G (p.Lys1775Glu) | |
| 9 | g.128617644A>T | CA375075713 | SPTAN1 | c.5398A>T (p.Lys1800Ter) c.5362A>T (p.Lys1788Ter) c.4825A>T (p.Lys1609Ter) c.2985A>T c.972A>T n.590A>T c.5287A>T (p.Lys1763Ter) c.5347A>T (p.Lys1783Ter) c.5302A>T (p.Lys1768Ter) c.5383A>T (p.Lys1795Ter) c.5338A>T (p.Lys1780Ter) c.5323A>T (p.Lys1775Ter) | |
| 9 | g.128617645A>C | CA375075715 | SPTAN1 | c.5399A>C (p.Lys1800Thr) c.5363A>C (p.Lys1788Thr) c.4826A>C (p.Lys1609Thr) c.2986A>C c.973A>C n.591A>C c.5288A>C (p.Lys1763Thr) c.5348A>C (p.Lys1783Thr) c.5303A>C (p.Lys1768Thr) c.5384A>C (p.Lys1795Thr) c.5339A>C (p.Lys1780Thr) c.5324A>C (p.Lys1775Thr) | |
| 9 | g.128617645A>G | CA375075717 | SPTAN1 | c.5399A>G (p.Lys1800Arg) c.5363A>G (p.Lys1788Arg) c.4826A>G (p.Lys1609Arg) c.2986A>G c.973A>G n.591A>G c.5288A>G (p.Lys1763Arg) c.5348A>G (p.Lys1783Arg) c.5303A>G (p.Lys1768Arg) c.5384A>G (p.Lys1795Arg) c.5339A>G (p.Lys1780Arg) c.5324A>G (p.Lys1775Arg) | COSMIC COSMIC |
| 9 | g.128617645A>T | CA375075718 | SPTAN1 | c.5399A>T (p.Lys1800Met) c.5363A>T (p.Lys1788Met) c.4826A>T (p.Lys1609Met) c.2986A>T c.973A>T n.591A>T c.5288A>T (p.Lys1763Met) c.5348A>T (p.Lys1783Met) c.5303A>T (p.Lys1768Met) c.5384A>T (p.Lys1795Met) c.5339A>T (p.Lys1780Met) c.5324A>T (p.Lys1775Met) | |
| 9 | g.128617646G>A | CA467303720 | SPTAN1 | c.5400G>A (p.Lys1800=) c.5364G>A (p.Lys1788=) c.4827G>A (p.Lys1609=) c.2987G>A c.974G>A n.592G>A c.5289G>A (p.Lys1763=) c.5349G>A (p.Lys1783=) c.5304G>A (p.Lys1768=) c.5385G>A (p.Lys1795=) c.5340G>A (p.Lys1780=) c.5325G>A (p.Lys1775=) | |
| 9 | g.128617646G>C | CA375075720 | SPTAN1 | c.5400G>C (p.Lys1800Asn) c.5364G>C (p.Lys1788Asn) c.4827G>C (p.Lys1609Asn) c.2987G>C c.974G>C n.592G>C c.5289G>C (p.Lys1763Asn) c.5349G>C (p.Lys1783Asn) c.5304G>C (p.Lys1768Asn) c.5385G>C (p.Lys1795Asn) c.5340G>C (p.Lys1780Asn) c.5325G>C (p.Lys1775Asn) | |
| 9 | g.128617646G>T | CA375075723 | SPTAN1 | c.5400G>T (p.Lys1800Asn) c.5364G>T (p.Lys1788Asn) c.4827G>T (p.Lys1609Asn) c.2987G>T c.974G>T n.592G>T c.5289G>T (p.Lys1763Asn) c.5349G>T (p.Lys1783Asn) c.5304G>T (p.Lys1768Asn) c.5385G>T (p.Lys1795Asn) c.5340G>T (p.Lys1780Asn) c.5325G>T (p.Lys1775Asn) | |
| 9 | g.128617647A= | CA1880364170 | SPTAN1 | c.5401A= (p.Lys1801=) c.5365A= (p.Lys1789=) c.4828A= (p.Lys1610=) c.2988A= c.975A= n.593A= c.5290A= (p.Lys1764=) c.5350A= (p.Lys1784=) c.5305A= (p.Lys1769=) c.5386A= (p.Lys1796=) c.5341A= (p.Lys1781=) c.5326A= (p.Lys1776=) | |
| 9 | g.128617647A>C | CA200401592 | SPTAN1 | c.5401A>C (p.Lys1801Gln) c.5365A>C (p.Lys1789Gln) c.4828A>C (p.Lys1610Gln) c.2988A>C c.975A>C n.593A>C c.5290A>C (p.Lys1764Gln) c.5350A>C (p.Lys1784Gln) c.5305A>C (p.Lys1769Gln) c.5386A>C (p.Lys1796Gln) c.5341A>C (p.Lys1781Gln) c.5326A>C (p.Lys1776Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617647A>G | CA375075729 | SPTAN1 | c.5401A>G (p.Lys1801Glu) c.5365A>G (p.Lys1789Glu) c.4828A>G (p.Lys1610Glu) c.2988A>G c.975A>G n.593A>G c.5290A>G (p.Lys1764Glu) c.5350A>G (p.Lys1784Glu) c.5305A>G (p.Lys1769Glu) c.5386A>G (p.Lys1796Glu) c.5341A>G (p.Lys1781Glu) c.5326A>G (p.Lys1776Glu) | |
| 9 | g.128617647A>T | CA375075730 | SPTAN1 | c.5401A>T (p.Lys1801Ter) c.5365A>T (p.Lys1789Ter) c.4828A>T (p.Lys1610Ter) c.2988A>T c.975A>T n.593A>T c.5290A>T (p.Lys1764Ter) c.5350A>T (p.Lys1784Ter) c.5305A>T (p.Lys1769Ter) c.5386A>T (p.Lys1796Ter) c.5341A>T (p.Lys1781Ter) c.5326A>T (p.Lys1776Ter) | |
| 9 | g.128617648A= | CA1880364171 | SPTAN1 | c.5402A= (p.Lys1801=) c.5366A= (p.Lys1789=) c.4829A= (p.Lys1610=) c.2989A= c.976A= n.594A= c.5291A= (p.Lys1764=) c.5351A= (p.Lys1784=) c.5306A= (p.Lys1769=) c.5387A= (p.Lys1796=) c.5342A= (p.Lys1781=) c.5327A= (p.Lys1776=) | |
| 9 | g.128617648A>C | CA375075740 | SPTAN1 | c.5402A>C (p.Lys1801Thr) c.5366A>C (p.Lys1789Thr) c.4829A>C (p.Lys1610Thr) c.2989A>C c.976A>C n.594A>C c.5291A>C (p.Lys1764Thr) c.5351A>C (p.Lys1784Thr) c.5306A>C (p.Lys1769Thr) c.5387A>C (p.Lys1796Thr) c.5342A>C (p.Lys1781Thr) c.5327A>C (p.Lys1776Thr) | |
| 9 | g.128617648A>G | CA375075738 | SPTAN1 | c.5402A>G (p.Lys1801Arg) c.5366A>G (p.Lys1789Arg) c.4829A>G (p.Lys1610Arg) c.2989A>G c.976A>G n.594A>G c.5291A>G (p.Lys1764Arg) c.5351A>G (p.Lys1784Arg) c.5306A>G (p.Lys1769Arg) c.5387A>G (p.Lys1796Arg) c.5342A>G (p.Lys1781Arg) c.5327A>G (p.Lys1776Arg) | |
| 9 | g.128617648A>T | CA200401595 | SPTAN1 | c.5402A>T (p.Lys1801Met) c.5366A>T (p.Lys1789Met) c.4829A>T (p.Lys1610Met) c.2989A>T c.976A>T n.594A>T c.5291A>T (p.Lys1764Met) c.5351A>T (p.Lys1784Met) c.5306A>T (p.Lys1769Met) c.5387A>T (p.Lys1796Met) c.5342A>T (p.Lys1781Met) c.5327A>T (p.Lys1776Met) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617649G>A | CA467303725 | SPTAN1 | c.5403G>A (p.Lys1801=) c.5367G>A (p.Lys1789=) c.4830G>A (p.Lys1610=) c.2990G>A c.977G>A n.595G>A c.5292G>A (p.Lys1764=) c.5352G>A (p.Lys1784=) c.5307G>A (p.Lys1769=) c.5388G>A (p.Lys1796=) c.5343G>A (p.Lys1781=) c.5328G>A (p.Lys1776=) | gnomAD v4 |
| 9 | g.128617649G>C | CA375075743 | SPTAN1 | c.5403G>C (p.Lys1801Asn) c.5367G>C (p.Lys1789Asn) c.4830G>C (p.Lys1610Asn) c.2990G>C c.977G>C n.595G>C c.5292G>C (p.Lys1764Asn) c.5352G>C (p.Lys1784Asn) c.5307G>C (p.Lys1769Asn) c.5388G>C (p.Lys1796Asn) c.5343G>C (p.Lys1781Asn) c.5328G>C (p.Lys1776Asn) | |
| 9 | g.128617649G>T | CA375075745 | SPTAN1 | c.5403G>T (p.Lys1801Asn) c.5367G>T (p.Lys1789Asn) c.4830G>T (p.Lys1610Asn) c.2990G>T c.977G>T n.595G>T c.5292G>T (p.Lys1764Asn) c.5352G>T (p.Lys1784Asn) c.5307G>T (p.Lys1769Asn) c.5388G>T (p.Lys1796Asn) c.5343G>T (p.Lys1781Asn) c.5328G>T (p.Lys1776Asn) | |
| 9 | g.128617650C>A | CA375075747 | SPTAN1 | c.5404C>A (p.Leu1802Met) c.5368C>A (p.Leu1790Met) c.4831C>A (p.Leu1611Met) c.2991C>A c.978C>A n.596C>A c.5293C>A (p.Leu1765Met) c.5353C>A (p.Leu1785Met) c.5308C>A (p.Leu1770Met) c.5389C>A (p.Leu1797Met) c.5344C>A (p.Leu1782Met) c.5329C>A (p.Leu1777Met) | |
| 9 | g.128617650C= | CA1880364172 | SPTAN1 | c.5404C= (p.Leu1802=) c.5368C= (p.Leu1790=) c.4831C= (p.Leu1611=) c.2991C= c.978C= n.596C= c.5293C= (p.Leu1765=) c.5353C= (p.Leu1785=) c.5308C= (p.Leu1770=) c.5389C= (p.Leu1797=) c.5344C= (p.Leu1782=) c.5329C= (p.Leu1777=) | |
| 9 | g.128617650C>G | CA375075751 | SPTAN1 | c.5404C>G (p.Leu1802Val) c.5368C>G (p.Leu1790Val) c.4831C>G (p.Leu1611Val) c.2991C>G c.978C>G n.596C>G c.5293C>G (p.Leu1765Val) c.5353C>G (p.Leu1785Val) c.5308C>G (p.Leu1770Val) c.5389C>G (p.Leu1797Val) c.5344C>G (p.Leu1782Val) c.5329C>G (p.Leu1777Val) | |
| 9 | g.128617650C>T | CA467303727 | SPTAN1 | c.5404C>T (p.Leu1802=) c.5368C>T (p.Leu1790=) c.4831C>T (p.Leu1611=) c.2991C>T c.978C>T n.596C>T c.5293C>T (p.Leu1765=) c.5353C>T (p.Leu1785=) c.5308C>T (p.Leu1770=) c.5389C>T (p.Leu1797=) c.5344C>T (p.Leu1782=) c.5329C>T (p.Leu1777=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617651T>A | CA375075753 | SPTAN1 | c.5405T>A (p.Leu1802Gln) c.5369T>A (p.Leu1790Gln) c.4832T>A (p.Leu1611Gln) c.2992T>A c.979T>A n.597T>A c.5294T>A (p.Leu1765Gln) c.5354T>A (p.Leu1785Gln) c.5309T>A (p.Leu1770Gln) c.5390T>A (p.Leu1797Gln) c.5345T>A (p.Leu1782Gln) c.5330T>A (p.Leu1777Gln) | |
| 9 | g.128617651T>C | CA375075756 | SPTAN1 | c.5405T>C (p.Leu1802Pro) c.5369T>C (p.Leu1790Pro) c.4832T>C (p.Leu1611Pro) c.2992T>C c.979T>C n.597T>C c.5294T>C (p.Leu1765Pro) c.5354T>C (p.Leu1785Pro) c.5309T>C (p.Leu1770Pro) c.5390T>C (p.Leu1797Pro) c.5345T>C (p.Leu1782Pro) c.5330T>C (p.Leu1777Pro) | |
| 9 | g.128617651T>G | CA375075759 | SPTAN1 | c.5405T>G (p.Leu1802Arg) c.5369T>G (p.Leu1790Arg) c.4832T>G (p.Leu1611Arg) c.2992T>G c.979T>G n.597T>G c.5294T>G (p.Leu1765Arg) c.5354T>G (p.Leu1785Arg) c.5309T>G (p.Leu1770Arg) c.5390T>G (p.Leu1797Arg) c.5345T>G (p.Leu1782Arg) c.5330T>G (p.Leu1777Arg) | |
| 9 | g.128617652G>A | CA467303732 | SPTAN1 | c.5406G>A (p.Leu1802=) c.5370G>A (p.Leu1790=) c.4833G>A (p.Leu1611=) c.2993G>A c.980G>A n.598G>A c.5295G>A (p.Leu1765=) c.5355G>A (p.Leu1785=) c.5310G>A (p.Leu1770=) c.5391G>A (p.Leu1797=) c.5346G>A (p.Leu1782=) c.5331G>A (p.Leu1777=) | |
| 9 | g.128617652G>C | CA467303731 | SPTAN1 | c.5406G>C (p.Leu1802=) c.5370G>C (p.Leu1790=) c.4833G>C (p.Leu1611=) c.2993G>C c.980G>C n.598G>C c.5295G>C (p.Leu1765=) c.5355G>C (p.Leu1785=) c.5310G>C (p.Leu1770=) c.5391G>C (p.Leu1797=) c.5346G>C (p.Leu1782=) c.5331G>C (p.Leu1777=) | |
| 9 | g.128617652G>T | CA467303730 | SPTAN1 | c.5406G>T (p.Leu1802=) c.5370G>T (p.Leu1790=) c.4833G>T (p.Leu1611=) c.2993G>T c.980G>T n.598G>T c.5295G>T (p.Leu1765=) c.5355G>T (p.Leu1785=) c.5310G>T (p.Leu1770=) c.5391G>T (p.Leu1797=) c.5346G>T (p.Leu1782=) c.5331G>T (p.Leu1777=) | |
| 9 | g.128617653C>A | CA375075762 | SPTAN1 | c.5407C>A (p.Leu1803Met) c.5371C>A (p.Leu1791Met) c.4834C>A (p.Leu1612Met) c.2994C>A c.981C>A n.599C>A c.5296C>A (p.Leu1766Met) c.5356C>A (p.Leu1786Met) c.5311C>A (p.Leu1771Met) c.5392C>A (p.Leu1798Met) c.5347C>A (p.Leu1783Met) c.5332C>A (p.Leu1778Met) | |
| 9 | g.128617653C>G | CA375075764 | SPTAN1 | c.5407C>G (p.Leu1803Val) c.5371C>G (p.Leu1791Val) c.4834C>G (p.Leu1612Val) c.2994C>G c.981C>G n.599C>G c.5296C>G (p.Leu1766Val) c.5356C>G (p.Leu1786Val) c.5311C>G (p.Leu1771Val) c.5392C>G (p.Leu1798Val) c.5347C>G (p.Leu1783Val) c.5332C>G (p.Leu1778Val) | |
| 9 | g.128617653C>T | CA467303735 | SPTAN1 | c.5407C>T (p.Leu1803=) c.5371C>T (p.Leu1791=) c.4834C>T (p.Leu1612=) c.2994C>T c.981C>T n.599C>T c.5296C>T (p.Leu1766=) c.5356C>T (p.Leu1786=) c.5311C>T (p.Leu1771=) c.5392C>T (p.Leu1798=) c.5347C>T (p.Leu1783=) c.5332C>T (p.Leu1778=) | gnomAD v4 |
| 9 | g.128617654T>A | CA375075767 | SPTAN1 | c.5408T>A (p.Leu1803Gln) c.5372T>A (p.Leu1791Gln) c.4835T>A (p.Leu1612Gln) c.2995T>A c.982T>A n.600T>A c.5297T>A (p.Leu1766Gln) c.5357T>A (p.Leu1786Gln) c.5312T>A (p.Leu1771Gln) c.5393T>A (p.Leu1798Gln) c.5348T>A (p.Leu1783Gln) c.5333T>A (p.Leu1778Gln) | |
| 9 | g.128617654T>C | CA375075771 | SPTAN1 | c.5408T>C (p.Leu1803Pro) c.5372T>C (p.Leu1791Pro) c.4835T>C (p.Leu1612Pro) c.2995T>C c.982T>C n.600T>C c.5297T>C (p.Leu1766Pro) c.5357T>C (p.Leu1786Pro) c.5312T>C (p.Leu1771Pro) c.5393T>C (p.Leu1798Pro) c.5348T>C (p.Leu1783Pro) c.5333T>C (p.Leu1778Pro) | |
| 9 | g.128617654T>G | CA375075776 | SPTAN1 | c.5408T>G (p.Leu1803Arg) c.5372T>G (p.Leu1791Arg) c.4835T>G (p.Leu1612Arg) c.2995T>G c.982T>G n.600T>G c.5297T>G (p.Leu1766Arg) c.5357T>G (p.Leu1786Arg) c.5312T>G (p.Leu1771Arg) c.5393T>G (p.Leu1798Arg) c.5348T>G (p.Leu1783Arg) c.5333T>G (p.Leu1778Arg) | |
| 9 | g.128617655G>A | CA467303737 | SPTAN1 | c.5409G>A (p.Leu1803=) c.5373G>A (p.Leu1791=) c.4836G>A (p.Leu1612=) c.2996G>A c.983G>A n.601G>A c.5298G>A (p.Leu1766=) c.5358G>A (p.Leu1786=) c.5313G>A (p.Leu1771=) c.5394G>A (p.Leu1798=) c.5349G>A (p.Leu1783=) c.5334G>A (p.Leu1778=) | |
| 9 | g.128617655G>C | CA467303738 | SPTAN1 | c.5409G>C (p.Leu1803=) c.5373G>C (p.Leu1791=) c.4836G>C (p.Leu1612=) c.2996G>C c.983G>C n.601G>C c.5298G>C (p.Leu1766=) c.5358G>C (p.Leu1786=) c.5313G>C (p.Leu1771=) c.5394G>C (p.Leu1798=) c.5349G>C (p.Leu1783=) c.5334G>C (p.Leu1778=) | |
| 9 | g.128617655G>T | CA467303739 | SPTAN1 | c.5409G>T (p.Leu1803=) c.5373G>T (p.Leu1791=) c.4836G>T (p.Leu1612=) c.2996G>T c.983G>T n.601G>T c.5298G>T (p.Leu1766=) c.5358G>T (p.Leu1786=) c.5313G>T (p.Leu1771=) c.5394G>T (p.Leu1798=) c.5349G>T (p.Leu1783=) c.5334G>T (p.Leu1778=) | ClinVar |
| 9 | g.128617656G>A | CA375075783 | SPTAN1 | c.5410G>A (p.Val1804Met) c.5374G>A (p.Val1792Met) c.4837G>A (p.Val1613Met) c.2997G>A c.984G>A n.602G>A c.5299G>A (p.Val1767Met) c.5359G>A (p.Val1787Met) c.5314G>A (p.Val1772Met) c.5395G>A (p.Val1799Met) c.5350G>A (p.Val1784Met) c.5335G>A (p.Val1779Met) | |
| 9 | g.128617656G>C | CA375075782 | SPTAN1 | c.5410G>C (p.Val1804Leu) c.5374G>C (p.Val1792Leu) c.4837G>C (p.Val1613Leu) c.2997G>C c.984G>C n.602G>C c.5299G>C (p.Val1767Leu) c.5359G>C (p.Val1787Leu) c.5314G>C (p.Val1772Leu) c.5395G>C (p.Val1799Leu) c.5350G>C (p.Val1784Leu) c.5335G>C (p.Val1779Leu) | |
| 9 | g.128617656G>T | CA375075779 | SPTAN1 | c.5410G>T (p.Val1804Leu) c.5374G>T (p.Val1792Leu) c.4837G>T (p.Val1613Leu) c.2997G>T c.984G>T n.602G>T c.5299G>T (p.Val1767Leu) c.5359G>T (p.Val1787Leu) c.5314G>T (p.Val1772Leu) c.5395G>T (p.Val1799Leu) c.5350G>T (p.Val1784Leu) c.5335G>T (p.Val1779Leu) | |
| 9 | g.128617657T>A | CA375075786 | SPTAN1 | c.5411T>A (p.Val1804Glu) c.5375T>A (p.Val1792Glu) c.4838T>A (p.Val1613Glu) c.2998T>A c.985T>A n.603T>A c.5300T>A (p.Val1767Glu) c.5360T>A (p.Val1787Glu) c.5315T>A (p.Val1772Glu) c.5396T>A (p.Val1799Glu) c.5351T>A (p.Val1784Glu) c.5336T>A (p.Val1779Glu) | |
| 9 | g.128617657T>C | CA375075795 | SPTAN1 | c.5411T>C (p.Val1804Ala) c.5375T>C (p.Val1792Ala) c.4838T>C (p.Val1613Ala) c.2998T>C c.985T>C n.603T>C c.5300T>C (p.Val1767Ala) c.5360T>C (p.Val1787Ala) c.5315T>C (p.Val1772Ala) c.5396T>C (p.Val1799Ala) c.5351T>C (p.Val1784Ala) c.5336T>C (p.Val1779Ala) | |
| 9 | g.128617657T>G | CA375075792 | SPTAN1 | c.5411T>G (p.Val1804Gly) c.5375T>G (p.Val1792Gly) c.4838T>G (p.Val1613Gly) c.2998T>G c.985T>G n.603T>G c.5300T>G (p.Val1767Gly) c.5360T>G (p.Val1787Gly) c.5315T>G (p.Val1772Gly) c.5396T>G (p.Val1799Gly) c.5351T>G (p.Val1784Gly) c.5336T>G (p.Val1779Gly) | |
| 9 | g.128617658G>A | CA467303744 | SPTAN1 | c.5412G>A (p.Val1804=) c.5376G>A (p.Val1792=) c.4839G>A (p.Val1613=) c.2999G>A c.986G>A n.604G>A c.5301G>A (p.Val1767=) c.5361G>A (p.Val1787=) c.5316G>A (p.Val1772=) c.5397G>A (p.Val1799=) c.5352G>A (p.Val1784=) c.5337G>A (p.Val1779=) | |
| 9 | g.128617658G>C | CA467303745 | SPTAN1 | c.5412G>C (p.Val1804=) c.5376G>C (p.Val1792=) c.4839G>C (p.Val1613=) c.2999G>C c.986G>C n.604G>C c.5301G>C (p.Val1767=) c.5361G>C (p.Val1787=) c.5316G>C (p.Val1772=) c.5397G>C (p.Val1799=) c.5352G>C (p.Val1784=) c.5337G>C (p.Val1779=) | |
| 9 | g.128617658G>T | CA467303746 | SPTAN1 | c.5412G>T (p.Val1804=) c.5376G>T (p.Val1792=) c.4839G>T (p.Val1613=) c.2999G>T c.986G>T n.604G>T c.5301G>T (p.Val1767=) c.5361G>T (p.Val1787=) c.5316G>T (p.Val1772=) c.5397G>T (p.Val1799=) c.5352G>T (p.Val1784=) c.5337G>T (p.Val1779=) | |
| 9 | g.128617659G>A | CA5265448 | SPTAN1 | c.5413G>A (p.Gly1805Ser) c.5377G>A (p.Gly1793Ser) c.4840G>A (p.Gly1614Ser) c.3000G>A c.987G>A n.605G>A c.5302G>A (p.Gly1768Ser) c.5362G>A (p.Gly1788Ser) c.5317G>A (p.Gly1773Ser) c.5398G>A (p.Gly1800Ser) c.5353G>A (p.Gly1785Ser) c.5338G>A (p.Gly1780Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617659G>C | CA375075800 | SPTAN1 | c.5413G>C (p.Gly1805Arg) c.5377G>C (p.Gly1793Arg) c.4840G>C (p.Gly1614Arg) c.3000G>C c.987G>C n.605G>C c.5302G>C (p.Gly1768Arg) c.5362G>C (p.Gly1788Arg) c.5317G>C (p.Gly1773Arg) c.5398G>C (p.Gly1800Arg) c.5353G>C (p.Gly1785Arg) c.5338G>C (p.Gly1780Arg) | |
| 9 | g.128617659G= | CA1880364173 | SPTAN1 | c.5413G= (p.Gly1805=) c.5377G= (p.Gly1793=) c.4840G= (p.Gly1614=) c.3000G= c.987G= n.605G= c.5302G= (p.Gly1768=) c.5362G= (p.Gly1788=) c.5317G= (p.Gly1773=) c.5398G= (p.Gly1800=) c.5353G= (p.Gly1785=) c.5338G= (p.Gly1780=) | |
| 9 | g.128617659G>T | CA375075803 | SPTAN1 | c.5413G>T (p.Gly1805Cys) c.5377G>T (p.Gly1793Cys) c.4840G>T (p.Gly1614Cys) c.3000G>T c.987G>T n.605G>T c.5302G>T (p.Gly1768Cys) c.5362G>T (p.Gly1788Cys) c.5317G>T (p.Gly1773Cys) c.5398G>T (p.Gly1800Cys) c.5353G>T (p.Gly1785Cys) c.5338G>T (p.Gly1780Cys) | |
| 9 | g.128617660G>A | CA375075805 | SPTAN1 | c.5414G>A (p.Gly1805Asp) c.5378G>A (p.Gly1793Asp) c.4841G>A (p.Gly1614Asp) c.3001G>A c.988G>A n.606G>A c.5303G>A (p.Gly1768Asp) c.5363G>A (p.Gly1788Asp) c.5318G>A (p.Gly1773Asp) c.5399G>A (p.Gly1800Asp) c.5354G>A (p.Gly1785Asp) c.5339G>A (p.Gly1780Asp) | |
| 9 | g.128617660G>C | CA375075808 | SPTAN1 | c.5414G>C (p.Gly1805Ala) c.5378G>C (p.Gly1793Ala) c.4841G>C (p.Gly1614Ala) c.3001G>C c.988G>C n.606G>C c.5303G>C (p.Gly1768Ala) c.5363G>C (p.Gly1788Ala) c.5318G>C (p.Gly1773Ala) c.5399G>C (p.Gly1800Ala) c.5354G>C (p.Gly1785Ala) c.5339G>C (p.Gly1780Ala) | |
| 9 | g.128617660G>T | CA375075811 | SPTAN1 | c.5414G>T (p.Gly1805Val) c.5378G>T (p.Gly1793Val) c.4841G>T (p.Gly1614Val) c.3001G>T c.988G>T n.606G>T c.5303G>T (p.Gly1768Val) c.5363G>T (p.Gly1788Val) c.5318G>T (p.Gly1773Val) c.5399G>T (p.Gly1800Val) c.5354G>T (p.Gly1785Val) c.5339G>T (p.Gly1780Val) | |
| 9 | g.128617661C>A | CA467303750 | SPTAN1 | c.5415C>A (p.Gly1805=) c.5379C>A (p.Gly1793=) c.4842C>A (p.Gly1614=) c.3002C>A c.989C>A n.607C>A c.5304C>A (p.Gly1768=) c.5364C>A (p.Gly1788=) c.5319C>A (p.Gly1773=) c.5400C>A (p.Gly1800=) c.5355C>A (p.Gly1785=) c.5340C>A (p.Gly1780=) | |
| 9 | g.128617661C= | CA1880364174 | SPTAN1 | c.5415C= (p.Gly1805=) c.5379C= (p.Gly1793=) c.4842C= (p.Gly1614=) c.3002C= c.989C= n.607C= c.5304C= (p.Gly1768=) c.5364C= (p.Gly1788=) c.5319C= (p.Gly1773=) c.5400C= (p.Gly1800=) c.5355C= (p.Gly1785=) c.5340C= (p.Gly1780=) | |
| 9 | g.128617661C>G | CA467303751 | SPTAN1 | c.5415C>G (p.Gly1805=) c.5379C>G (p.Gly1793=) c.4842C>G (p.Gly1614=) c.3002C>G c.989C>G n.607C>G c.5304C>G (p.Gly1768=) c.5364C>G (p.Gly1788=) c.5319C>G (p.Gly1773=) c.5400C>G (p.Gly1800=) c.5355C>G (p.Gly1785=) c.5340C>G (p.Gly1780=) | |
| 9 | g.128617661C>T | CA467303752 | SPTAN1 | c.5415C>T (p.Gly1805=) c.5379C>T (p.Gly1793=) c.4842C>T (p.Gly1614=) c.3002C>T c.989C>T n.607C>T c.5304C>T (p.Gly1768=) c.5364C>T (p.Gly1788=) c.5319C>T (p.Gly1773=) c.5400C>T (p.Gly1800=) c.5355C>T (p.Gly1785=) c.5340C>T (p.Gly1780=) | ClinVar dbSNP |
| 9 | g.128617662T>A | CA375075813 | SPTAN1 | c.5416T>A (p.Ser1806Thr) c.5380T>A (p.Ser1794Thr) c.4843T>A (p.Ser1615Thr) c.3003T>A c.990T>A n.608T>A c.5305T>A (p.Ser1769Thr) c.5365T>A (p.Ser1789Thr) c.5320T>A (p.Ser1774Thr) c.5401T>A (p.Ser1801Thr) c.5356T>A (p.Ser1786Thr) c.5341T>A (p.Ser1781Thr) | gnomAD v4 |
| 9 | g.128617662T>C | CA375075815 | SPTAN1 | c.5416T>C (p.Ser1806Pro) c.5380T>C (p.Ser1794Pro) c.4843T>C (p.Ser1615Pro) c.3003T>C c.990T>C n.608T>C c.5305T>C (p.Ser1769Pro) c.5365T>C (p.Ser1789Pro) c.5320T>C (p.Ser1774Pro) c.5401T>C (p.Ser1801Pro) c.5356T>C (p.Ser1786Pro) c.5341T>C (p.Ser1781Pro) | |
| 9 | g.128617662T>G | CA375075818 | SPTAN1 | c.5416T>G (p.Ser1806Ala) c.5380T>G (p.Ser1794Ala) c.4843T>G (p.Ser1615Ala) c.3003T>G c.990T>G n.608T>G c.5305T>G (p.Ser1769Ala) c.5365T>G (p.Ser1789Ala) c.5320T>G (p.Ser1774Ala) c.5401T>G (p.Ser1801Ala) c.5356T>G (p.Ser1786Ala) c.5341T>G (p.Ser1781Ala) | |
| 9 | g.128617663C>A | CA375075821 | SPTAN1 | c.5417C>A (p.Ser1806Ter) c.5381C>A (p.Ser1794Ter) c.4844C>A (p.Ser1615Ter) c.3004C>A c.991C>A n.609C>A c.5306C>A (p.Ser1769Ter) c.5366C>A (p.Ser1789Ter) c.5321C>A (p.Ser1774Ter) c.5402C>A (p.Ser1801Ter) c.5357C>A (p.Ser1786Ter) c.5342C>A (p.Ser1781Ter) | |
| 9 | g.128617663C>G | CA375075823 | SPTAN1 | c.5417C>G (p.Ser1806Ter) c.5381C>G (p.Ser1794Ter) c.4844C>G (p.Ser1615Ter) c.3004C>G c.991C>G n.609C>G c.5306C>G (p.Ser1769Ter) c.5366C>G (p.Ser1789Ter) c.5321C>G (p.Ser1774Ter) c.5402C>G (p.Ser1801Ter) c.5357C>G (p.Ser1786Ter) c.5342C>G (p.Ser1781Ter) | |
| 9 | g.128617663C>T | CA375075826 | SPTAN1 | c.5417C>T (p.Ser1806Leu) c.5381C>T (p.Ser1794Leu) c.4844C>T (p.Ser1615Leu) c.3004C>T c.991C>T n.609C>T c.5306C>T (p.Ser1769Leu) c.5366C>T (p.Ser1789Leu) c.5321C>T (p.Ser1774Leu) c.5402C>T (p.Ser1801Leu) c.5357C>T (p.Ser1786Leu) c.5342C>T (p.Ser1781Leu) | gnomAD v4 |
| 9 | g.128617664A= | CA1880364175 | SPTAN1 | c.5418A= (p.Ser1806=) c.5382A= (p.Ser1794=) c.4845A= (p.Ser1615=) c.3005A= c.992A= n.610A= c.5307A= (p.Ser1769=) c.5367A= (p.Ser1789=) c.5322A= (p.Ser1774=) c.5403A= (p.Ser1801=) c.5358A= (p.Ser1786=) c.5343A= (p.Ser1781=) | |
| 9 | g.128617664A>C | CA467303753 | SPTAN1 | c.5418A>C (p.Ser1806=) c.5382A>C (p.Ser1794=) c.4845A>C (p.Ser1615=) c.3005A>C c.992A>C n.610A>C c.5307A>C (p.Ser1769=) c.5367A>C (p.Ser1789=) c.5322A>C (p.Ser1774=) c.5403A>C (p.Ser1801=) c.5358A>C (p.Ser1786=) c.5343A>C (p.Ser1781=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128617664A>G | CA467303754 | SPTAN1 | c.5418A>G (p.Ser1806=) c.5382A>G (p.Ser1794=) c.4845A>G (p.Ser1615=) c.3005A>G c.992A>G n.610A>G c.5307A>G (p.Ser1769=) c.5367A>G (p.Ser1789=) c.5322A>G (p.Ser1774=) c.5403A>G (p.Ser1801=) c.5358A>G (p.Ser1786=) c.5343A>G (p.Ser1781=) | dbSNP gnomAD v4 |
| 9 | g.128617664A>T | CA467303755 | SPTAN1 | c.5418A>T (p.Ser1806=) c.5382A>T (p.Ser1794=) c.4845A>T (p.Ser1615=) c.3005A>T c.992A>T n.610A>T c.5307A>T (p.Ser1769=) c.5367A>T (p.Ser1789=) c.5322A>T (p.Ser1774=) c.5403A>T (p.Ser1801=) c.5358A>T (p.Ser1786=) c.5343A>T (p.Ser1781=) | |
| 9 | g.128617665G>A | CA375075844 | SPTAN1 | c.5419G>A (p.Glu1807Lys) c.5383G>A (p.Glu1795Lys) c.4846G>A (p.Glu1616Lys) c.3006G>A c.993G>A n.611G>A c.5308G>A (p.Glu1770Lys) c.5368G>A (p.Glu1790Lys) c.5323G>A (p.Glu1775Lys) c.5404G>A (p.Glu1802Lys) c.5359G>A (p.Glu1787Lys) c.5344G>A (p.Glu1782Lys) | |
| 9 | g.128617665G>C | CA375075837 | SPTAN1 | c.5419G>C (p.Glu1807Gln) c.5383G>C (p.Glu1795Gln) c.4846G>C (p.Glu1616Gln) c.3006G>C c.993G>C n.611G>C c.5308G>C (p.Glu1770Gln) c.5368G>C (p.Glu1790Gln) c.5323G>C (p.Glu1775Gln) c.5404G>C (p.Glu1802Gln) c.5359G>C (p.Glu1787Gln) c.5344G>C (p.Glu1782Gln) | COSMIC COSMIC |
| 9 | g.128617665G>T | CA375075839 | SPTAN1 | c.5419G>T (p.Glu1807Ter) c.5383G>T (p.Glu1795Ter) c.4846G>T (p.Glu1616Ter) c.3006G>T c.993G>T n.611G>T c.5308G>T (p.Glu1770Ter) c.5368G>T (p.Glu1790Ter) c.5323G>T (p.Glu1775Ter) c.5404G>T (p.Glu1802Ter) c.5359G>T (p.Glu1787Ter) c.5344G>T (p.Glu1782Ter) | |
| 9 | g.128617666A>C | CA375075849 | SPTAN1 | c.5420A>C (p.Glu1807Ala) c.5384A>C (p.Glu1795Ala) c.4847A>C (p.Glu1616Ala) c.3007A>C c.994A>C n.612A>C c.5309A>C (p.Glu1770Ala) c.5369A>C (p.Glu1790Ala) c.5324A>C (p.Glu1775Ala) c.5405A>C (p.Glu1802Ala) c.5360A>C (p.Glu1787Ala) c.5345A>C (p.Glu1782Ala) | |
| 9 | g.128617666A>G | CA375075851 | SPTAN1 | c.5420A>G (p.Glu1807Gly) c.5384A>G (p.Glu1795Gly) c.4847A>G (p.Glu1616Gly) c.3007A>G c.994A>G n.612A>G c.5309A>G (p.Glu1770Gly) c.5369A>G (p.Glu1790Gly) c.5324A>G (p.Glu1775Gly) c.5405A>G (p.Glu1802Gly) c.5360A>G (p.Glu1787Gly) c.5345A>G (p.Glu1782Gly) | |
| 9 | g.128617666A>T | CA375075854 | SPTAN1 | c.5420A>T (p.Glu1807Val) c.5384A>T (p.Glu1795Val) c.4847A>T (p.Glu1616Val) c.3007A>T c.994A>T n.612A>T c.5309A>T (p.Glu1770Val) c.5369A>T (p.Glu1790Val) c.5324A>T (p.Glu1775Val) c.5405A>T (p.Glu1802Val) c.5360A>T (p.Glu1787Val) c.5345A>T (p.Glu1782Val) | |
| 9 | g.128617667G>A | CA467303756 | SPTAN1 | c.5421G>A (p.Glu1807=) c.5385G>A (p.Glu1795=) c.4848G>A (p.Glu1616=) c.3008G>A c.995G>A n.613G>A c.5310G>A (p.Glu1770=) c.5370G>A (p.Glu1790=) c.5325G>A (p.Glu1775=) c.5406G>A (p.Glu1802=) c.5361G>A (p.Glu1787=) c.5346G>A (p.Glu1782=) | |
| 9 | g.128617667G>C | CA375075858 | SPTAN1 | c.5421G>C (p.Glu1807Asp) c.5385G>C (p.Glu1795Asp) c.4848G>C (p.Glu1616Asp) c.3008G>C c.995G>C n.613G>C c.5310G>C (p.Glu1770Asp) c.5370G>C (p.Glu1790Asp) c.5325G>C (p.Glu1775Asp) c.5406G>C (p.Glu1802Asp) c.5361G>C (p.Glu1787Asp) c.5346G>C (p.Glu1782Asp) | |
| 9 | g.128617667G>T | CA375075861 | SPTAN1 | c.5421G>T (p.Glu1807Asp) c.5385G>T (p.Glu1795Asp) c.4848G>T (p.Glu1616Asp) c.3008G>T c.995G>T n.613G>T c.5310G>T (p.Glu1770Asp) c.5370G>T (p.Glu1790Asp) c.5325G>T (p.Glu1775Asp) c.5406G>T (p.Glu1802Asp) c.5361G>T (p.Glu1787Asp) c.5346G>T (p.Glu1782Asp) | dbSNP |
| 9 | g.128617668G>A | CA375075864 | SPTAN1 | c.5422G>A (p.Asp1808Asn) c.5386G>A (p.Asp1796Asn) c.4849G>A (p.Asp1617Asn) c.3009G>A c.996G>A n.614G>A c.5311G>A (p.Asp1771Asn) c.5371G>A (p.Asp1791Asn) c.5326G>A (p.Asp1776Asn) c.5407G>A (p.Asp1803Asn) c.5362G>A (p.Asp1788Asn) c.5347G>A (p.Asp1783Asn) | dbSNP gnomAD v2 |
| 9 | g.128617668G>C | CA375075866 | SPTAN1 | c.5422G>C (p.Asp1808His) c.5386G>C (p.Asp1796His) c.4849G>C (p.Asp1617His) c.3009G>C c.996G>C n.614G>C c.5311G>C (p.Asp1771His) c.5371G>C (p.Asp1791His) c.5326G>C (p.Asp1776His) c.5407G>C (p.Asp1803His) c.5362G>C (p.Asp1788His) c.5347G>C (p.Asp1783His) | |
| 9 | g.128617668G= | CA1880364176 | SPTAN1 | c.5422G= (p.Asp1808=) c.5386G= (p.Asp1796=) c.4849G= (p.Asp1617=) c.3009G= c.996G= n.614G= c.5311G= (p.Asp1771=) c.5371G= (p.Asp1791=) c.5326G= (p.Asp1776=) c.5407G= (p.Asp1803=) c.5362G= (p.Asp1788=) c.5347G= (p.Asp1783=) | |
| 9 | g.128617668G>T | CA375075873 | SPTAN1 | c.5422G>T (p.Asp1808Tyr) c.5386G>T (p.Asp1796Tyr) c.4849G>T (p.Asp1617Tyr) c.3009G>T c.996G>T n.614G>T c.5311G>T (p.Asp1771Tyr) c.5371G>T (p.Asp1791Tyr) c.5326G>T (p.Asp1776Tyr) c.5407G>T (p.Asp1803Tyr) c.5362G>T (p.Asp1788Tyr) c.5347G>T (p.Asp1783Tyr) | |
| 9 | g.128617669A>C | CA375075877 | SPTAN1 | c.5423A>C (p.Asp1808Ala) c.5387A>C (p.Asp1796Ala) c.4850A>C (p.Asp1617Ala) c.3010A>C c.997A>C n.615A>C c.5312A>C (p.Asp1771Ala) c.5372A>C (p.Asp1791Ala) c.5327A>C (p.Asp1776Ala) c.5408A>C (p.Asp1803Ala) c.5363A>C (p.Asp1788Ala) c.5348A>C (p.Asp1783Ala) | |
| 9 | g.128617669A>G | CA375075879 | SPTAN1 | c.5423A>G (p.Asp1808Gly) c.5387A>G (p.Asp1796Gly) c.4850A>G (p.Asp1617Gly) c.3010A>G c.997A>G n.615A>G c.5312A>G (p.Asp1771Gly) c.5372A>G (p.Asp1791Gly) c.5327A>G (p.Asp1776Gly) c.5408A>G (p.Asp1803Gly) c.5363A>G (p.Asp1788Gly) c.5348A>G (p.Asp1783Gly) | |
| 9 | g.128617669A>T | CA375075882 | SPTAN1 | c.5423A>T (p.Asp1808Val) c.5387A>T (p.Asp1796Val) c.4850A>T (p.Asp1617Val) c.3010A>T c.997A>T n.615A>T c.5312A>T (p.Asp1771Val) c.5372A>T (p.Asp1791Val) c.5327A>T (p.Asp1776Val) c.5408A>T (p.Asp1803Val) c.5363A>T (p.Asp1788Val) c.5348A>T (p.Asp1783Val) | |
| 9 | g.128617670C>A | CA375075889 | SPTAN1 | c.5424C>A (p.Asp1808Glu) c.5388C>A (p.Asp1796Glu) c.4851C>A (p.Asp1617Glu) c.3011C>A c.998C>A n.616C>A c.5313C>A (p.Asp1771Glu) c.5373C>A (p.Asp1791Glu) c.5328C>A (p.Asp1776Glu) c.5409C>A (p.Asp1803Glu) c.5364C>A (p.Asp1788Glu) c.5349C>A (p.Asp1783Glu) | |
| 9 | g.128617670C>G | CA375075886 | SPTAN1 | c.5424C>G (p.Asp1808Glu) c.5388C>G (p.Asp1796Glu) c.4851C>G (p.Asp1617Glu) c.3011C>G c.998C>G n.616C>G c.5313C>G (p.Asp1771Glu) c.5373C>G (p.Asp1791Glu) c.5328C>G (p.Asp1776Glu) c.5409C>G (p.Asp1803Glu) c.5364C>G (p.Asp1788Glu) c.5349C>G (p.Asp1783Glu) | ClinVar gnomAD v4 |
| 9 | g.128617670C>T | CA467303757 | SPTAN1 | c.5424C>T (p.Asp1808=) c.5388C>T (p.Asp1796=) c.4851C>T (p.Asp1617=) c.3011C>T c.998C>T n.616C>T c.5313C>T (p.Asp1771=) c.5373C>T (p.Asp1791=) c.5328C>T (p.Asp1776=) c.5409C>T (p.Asp1803=) c.5364C>T (p.Asp1788=) c.5349C>T (p.Asp1783=) | |
| 9 | g.128617671T>A | CA375075895 | SPTAN1 | c.5425T>A (p.Tyr1809Asn) c.5389T>A (p.Tyr1797Asn) c.4852T>A (p.Tyr1618Asn) c.3012T>A c.999T>A n.617T>A c.5314T>A (p.Tyr1772Asn) c.5374T>A (p.Tyr1792Asn) c.5329T>A (p.Tyr1777Asn) c.5410T>A (p.Tyr1804Asn) c.5365T>A (p.Tyr1789Asn) c.5350T>A (p.Tyr1784Asn) | |
| 9 | g.128617671T>C | CA375075912 | SPTAN1 | c.5425T>C (p.Tyr1809His) c.5389T>C (p.Tyr1797His) c.4852T>C (p.Tyr1618His) c.3012T>C c.999T>C n.617T>C c.5314T>C (p.Tyr1772His) c.5374T>C (p.Tyr1792His) c.5329T>C (p.Tyr1777His) c.5410T>C (p.Tyr1804His) c.5365T>C (p.Tyr1789His) c.5350T>C (p.Tyr1784His) | |
| 9 | g.128617671T>G | CA375075916 | SPTAN1 | c.5425T>G (p.Tyr1809Asp) c.5389T>G (p.Tyr1797Asp) c.4852T>G (p.Tyr1618Asp) c.3012T>G c.999T>G n.617T>G c.5314T>G (p.Tyr1772Asp) c.5374T>G (p.Tyr1792Asp) c.5329T>G (p.Tyr1777Asp) c.5410T>G (p.Tyr1804Asp) c.5365T>G (p.Tyr1789Asp) c.5350T>G (p.Tyr1784Asp) | |
| 9 | g.128617672A= | CA1880364177 | SPTAN1 | c.5426A= (p.Tyr1809=) c.5390A= (p.Tyr1797=) c.4853A= (p.Tyr1618=) c.3013A= c.1000A= n.618A= c.5315A= (p.Tyr1772=) c.5375A= (p.Tyr1792=) c.5330A= (p.Tyr1777=) c.5411A= (p.Tyr1804=) c.5366A= (p.Tyr1789=) c.5351A= (p.Tyr1784=) | |
| 9 | g.128617672A>C | CA375075921 | SPTAN1 | c.5426A>C (p.Tyr1809Ser) c.5390A>C (p.Tyr1797Ser) c.4853A>C (p.Tyr1618Ser) c.3013A>C c.1000A>C n.618A>C c.5315A>C (p.Tyr1772Ser) c.5375A>C (p.Tyr1792Ser) c.5330A>C (p.Tyr1777Ser) c.5411A>C (p.Tyr1804Ser) c.5366A>C (p.Tyr1789Ser) c.5351A>C (p.Tyr1784Ser) | dbSNP |
| 9 | g.128617672A>G | CA375075923 | SPTAN1 | c.5426A>G (p.Tyr1809Cys) c.5390A>G (p.Tyr1797Cys) c.4853A>G (p.Tyr1618Cys) c.3013A>G c.1000A>G n.618A>G c.5315A>G (p.Tyr1772Cys) c.5375A>G (p.Tyr1792Cys) c.5330A>G (p.Tyr1777Cys) c.5411A>G (p.Tyr1804Cys) c.5366A>G (p.Tyr1789Cys) c.5351A>G (p.Tyr1784Cys) | gnomAD v4 |
| 9 | g.128617672A>T | CA375075926 | SPTAN1 | c.5426A>T (p.Tyr1809Phe) c.5390A>T (p.Tyr1797Phe) c.4853A>T (p.Tyr1618Phe) c.3013A>T c.1000A>T n.618A>T c.5315A>T (p.Tyr1772Phe) c.5375A>T (p.Tyr1792Phe) c.5330A>T (p.Tyr1777Phe) c.5411A>T (p.Tyr1804Phe) c.5366A>T (p.Tyr1789Phe) c.5351A>T (p.Tyr1784Phe) | |
| 9 | g.128617673C>A | CA375075930 | SPTAN1 | c.5427C>A (p.Tyr1809Ter) c.5391C>A (p.Tyr1797Ter) c.4854C>A (p.Tyr1618Ter) c.3014C>A c.1001C>A n.619C>A c.5316C>A (p.Tyr1772Ter) c.5376C>A (p.Tyr1792Ter) c.5331C>A (p.Tyr1777Ter) c.5412C>A (p.Tyr1804Ter) c.5367C>A (p.Tyr1789Ter) c.5352C>A (p.Tyr1784Ter) | |
| 9 | g.128617673C= | CA1880364178 | SPTAN1 | c.5427C= (p.Tyr1809=) c.5391C= (p.Tyr1797=) c.4854C= (p.Tyr1618=) c.3014C= c.1001C= n.619C= c.5316C= (p.Tyr1772=) c.5376C= (p.Tyr1792=) c.5331C= (p.Tyr1777=) c.5412C= (p.Tyr1804=) c.5367C= (p.Tyr1789=) c.5352C= (p.Tyr1784=) | |
| 9 | g.128617673C>G | CA375075934 | SPTAN1 | c.5427C>G (p.Tyr1809Ter) c.5391C>G (p.Tyr1797Ter) c.4854C>G (p.Tyr1618Ter) c.3014C>G c.1001C>G n.619C>G c.5316C>G (p.Tyr1772Ter) c.5376C>G (p.Tyr1792Ter) c.5331C>G (p.Tyr1777Ter) c.5412C>G (p.Tyr1804Ter) c.5367C>G (p.Tyr1789Ter) c.5352C>G (p.Tyr1784Ter) | ClinVar dbSNP |
| 9 | g.128617673C>T | CA5265449 | SPTAN1 | c.5427C>T (p.Tyr1809=) c.5391C>T (p.Tyr1797=) c.4854C>T (p.Tyr1618=) c.3014C>T c.1001C>T n.619C>T c.5316C>T (p.Tyr1772=) c.5376C>T (p.Tyr1792=) c.5331C>T (p.Tyr1777=) c.5412C>T (p.Tyr1804=) c.5367C>T (p.Tyr1789=) c.5352C>T (p.Tyr1784=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.128617674G>A | CA5265450 | SPTAN1 | c.5428G>A (p.Gly1810Ser) c.5392G>A (p.Gly1798Ser) c.4855G>A (p.Gly1619Ser) c.3015G>A c.1002G>A n.620G>A c.5317G>A (p.Gly1773Ser) c.5377G>A (p.Gly1793Ser) c.5332G>A (p.Gly1778Ser) c.5413G>A (p.Gly1805Ser) c.5368G>A (p.Gly1790Ser) c.5353G>A (p.Gly1785Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617674G>C | CA375075943 | SPTAN1 | c.5428G>C (p.Gly1810Arg) c.5392G>C (p.Gly1798Arg) c.4855G>C (p.Gly1619Arg) c.3015G>C c.1002G>C n.620G>C c.5317G>C (p.Gly1773Arg) c.5377G>C (p.Gly1793Arg) c.5332G>C (p.Gly1778Arg) c.5413G>C (p.Gly1805Arg) c.5368G>C (p.Gly1790Arg) c.5353G>C (p.Gly1785Arg) | |
| 9 | g.128617674G= | CA1880364179 | SPTAN1 | c.5428G= (p.Gly1810=) c.5392G= (p.Gly1798=) c.4855G= (p.Gly1619=) c.3015G= c.1002G= n.620G= c.5317G= (p.Gly1773=) c.5377G= (p.Gly1793=) c.5332G= (p.Gly1778=) c.5413G= (p.Gly1805=) c.5368G= (p.Gly1790=) c.5353G= (p.Gly1785=) | |
| 9 | g.128617674G>T | CA375075946 | SPTAN1 | c.5428G>T (p.Gly1810Cys) c.5392G>T (p.Gly1798Cys) c.4855G>T (p.Gly1619Cys) c.3015G>T c.1002G>T n.620G>T c.5317G>T (p.Gly1773Cys) c.5377G>T (p.Gly1793Cys) c.5332G>T (p.Gly1778Cys) c.5413G>T (p.Gly1805Cys) c.5368G>T (p.Gly1790Cys) c.5353G>T (p.Gly1785Cys) | ClinVar dbSNP |
| 9 | g.128617675G>A | CA375075951 | SPTAN1 | c.5429G>A (p.Gly1810Asp) c.5393G>A (p.Gly1798Asp) c.4856G>A (p.Gly1619Asp) c.3016G>A c.1003G>A n.621G>A c.5318G>A (p.Gly1773Asp) c.5378G>A (p.Gly1793Asp) c.5333G>A (p.Gly1778Asp) c.5414G>A (p.Gly1805Asp) c.5369G>A (p.Gly1790Asp) c.5354G>A (p.Gly1785Asp) | |
| 9 | g.128617675G>C | CA375075952 | SPTAN1 | c.5429G>C (p.Gly1810Ala) c.5393G>C (p.Gly1798Ala) c.4856G>C (p.Gly1619Ala) c.3016G>C c.1003G>C n.621G>C c.5318G>C (p.Gly1773Ala) c.5378G>C (p.Gly1793Ala) c.5333G>C (p.Gly1778Ala) c.5414G>C (p.Gly1805Ala) c.5369G>C (p.Gly1790Ala) c.5354G>C (p.Gly1785Ala) | |
| 9 | g.128617675G>T | CA375075950 | SPTAN1 | c.5429G>T (p.Gly1810Val) c.5393G>T (p.Gly1798Val) c.4856G>T (p.Gly1619Val) c.3016G>T c.1003G>T n.621G>T c.5318G>T (p.Gly1773Val) c.5378G>T (p.Gly1793Val) c.5333G>T (p.Gly1778Val) c.5414G>T (p.Gly1805Val) c.5369G>T (p.Gly1790Val) c.5354G>T (p.Gly1785Val) | |
| 9 | g.128617676C>A | CA467303758 | SPTAN1 | c.5430C>A (p.Gly1810=) c.5394C>A (p.Gly1798=) c.4857C>A (p.Gly1619=) c.3017C>A c.1004C>A n.622C>A c.5319C>A (p.Gly1773=) c.5379C>A (p.Gly1793=) c.5334C>A (p.Gly1778=) c.5415C>A (p.Gly1805=) c.5370C>A (p.Gly1790=) c.5355C>A (p.Gly1785=) | |
| 9 | g.128617676C>G | CA467303759 | SPTAN1 | c.5430C>G (p.Gly1810=) c.5394C>G (p.Gly1798=) c.4857C>G (p.Gly1619=) c.3017C>G c.1004C>G n.622C>G c.5319C>G (p.Gly1773=) c.5379C>G (p.Gly1793=) c.5334C>G (p.Gly1778=) c.5415C>G (p.Gly1805=) c.5370C>G (p.Gly1790=) c.5355C>G (p.Gly1785=) | |
| 9 | g.128617676C>T | CA467303760 | SPTAN1 | c.5430C>T (p.Gly1810=) c.5394C>T (p.Gly1798=) c.4857C>T (p.Gly1619=) c.3017C>T c.1004C>T n.622C>T c.5319C>T (p.Gly1773=) c.5379C>T (p.Gly1793=) c.5334C>T (p.Gly1778=) c.5415C>T (p.Gly1805=) c.5370C>T (p.Gly1790=) c.5355C>T (p.Gly1785=) | |
| 9 | g.128617677C>A | CA467303761 | SPTAN1 | c.5431C>A (p.Arg1811=) c.5395C>A (p.Arg1799=) c.4858C>A (p.Arg1620=) c.3018C>A c.1005C>A n.623C>A c.5320C>A (p.Arg1774=) c.5380C>A (p.Arg1794=) c.5335C>A (p.Arg1779=) c.5416C>A (p.Arg1806=) c.5371C>A (p.Arg1791=) c.5356C>A (p.Arg1786=) | |
| 9 | g.128617677C>G | CA375075953 | SPTAN1 | c.5431C>G (p.Arg1811Gly) c.5395C>G (p.Arg1799Gly) c.4858C>G (p.Arg1620Gly) c.3018C>G c.1005C>G n.623C>G c.5320C>G (p.Arg1774Gly) c.5380C>G (p.Arg1794Gly) c.5335C>G (p.Arg1779Gly) c.5416C>G (p.Arg1806Gly) c.5371C>G (p.Arg1791Gly) c.5356C>G (p.Arg1786Gly) | |
| 9 | g.128617677C>T | CA375075954 | SPTAN1 | c.5431C>T (p.Arg1811Trp) c.5395C>T (p.Arg1799Trp) c.4858C>T (p.Arg1620Trp) c.3018C>T c.1005C>T n.623C>T c.5320C>T (p.Arg1774Trp) c.5380C>T (p.Arg1794Trp) c.5335C>T (p.Arg1779Trp) c.5416C>T (p.Arg1806Trp) c.5371C>T (p.Arg1791Trp) c.5356C>T (p.Arg1786Trp) | COSMIC |
| 9 | g.128617678G>A | CA375075956 | SPTAN1 | c.5432G>A (p.Arg1811Gln) c.5396G>A (p.Arg1799Gln) c.4859G>A (p.Arg1620Gln) c.3019G>A c.1006G>A n.624G>A c.5321G>A (p.Arg1774Gln) c.5381G>A (p.Arg1794Gln) c.5336G>A (p.Arg1779Gln) c.5417G>A (p.Arg1806Gln) c.5372G>A (p.Arg1791Gln) c.5357G>A (p.Arg1786Gln) | ClinVar |
| 9 | g.128617678G>C | CA375075960 | SPTAN1 | c.5432G>C (p.Arg1811Pro) c.5396G>C (p.Arg1799Pro) c.4859G>C (p.Arg1620Pro) c.3019G>C c.1006G>C n.624G>C c.5321G>C (p.Arg1774Pro) c.5381G>C (p.Arg1794Pro) c.5336G>C (p.Arg1779Pro) c.5417G>C (p.Arg1806Pro) c.5372G>C (p.Arg1791Pro) c.5357G>C (p.Arg1786Pro) | |
| 9 | g.128617678G>T | CA375075961 | SPTAN1 | c.5432G>T (p.Arg1811Leu) c.5396G>T (p.Arg1799Leu) c.4859G>T (p.Arg1620Leu) c.3019G>T c.1006G>T n.624G>T c.5321G>T (p.Arg1774Leu) c.5381G>T (p.Arg1794Leu) c.5336G>T (p.Arg1779Leu) c.5417G>T (p.Arg1806Leu) c.5372G>T (p.Arg1791Leu) c.5357G>T (p.Arg1786Leu) | |
| 9 | g.128617679G>A | CA467303762 | SPTAN1 | c.5433G>A (p.Arg1811=) c.5397G>A (p.Arg1799=) c.4860G>A (p.Arg1620=) c.3020G>A c.1007G>A n.625G>A c.5322G>A (p.Arg1774=) c.5382G>A (p.Arg1794=) c.5337G>A (p.Arg1779=) c.5418G>A (p.Arg1806=) c.5373G>A (p.Arg1791=) c.5358G>A (p.Arg1786=) | |
| 9 | g.128617679G>C | CA467303763 | SPTAN1 | c.5433G>C (p.Arg1811=) c.5397G>C (p.Arg1799=) c.4860G>C (p.Arg1620=) c.3020G>C c.1007G>C n.625G>C c.5322G>C (p.Arg1774=) c.5382G>C (p.Arg1794=) c.5337G>C (p.Arg1779=) c.5418G>C (p.Arg1806=) c.5373G>C (p.Arg1791=) c.5358G>C (p.Arg1786=) | |
| 9 | g.128617679G>T | CA467303764 | SPTAN1 | c.5433G>T (p.Arg1811=) c.5397G>T (p.Arg1799=) c.4860G>T (p.Arg1620=) c.3020G>T c.1007G>T n.625G>T c.5322G>T (p.Arg1774=) c.5382G>T (p.Arg1794=) c.5337G>T (p.Arg1779=) c.5418G>T (p.Arg1806=) c.5373G>T (p.Arg1791=) c.5358G>T (p.Arg1786=) | |
| 9 | g.128617680G>A | CA375075972 | SPTAN1 | c.5434G>A (p.Asp1812Asn) c.5398G>A (p.Asp1800Asn) c.4861G>A (p.Asp1621Asn) c.3021G>A c.1008G>A n.626G>A c.5323G>A (p.Asp1775Asn) c.5383G>A (p.Asp1795Asn) c.5338G>A (p.Asp1780Asn) c.5419G>A (p.Asp1807Asn) c.5374G>A (p.Asp1792Asn) c.5359G>A (p.Asp1787Asn) | |
| 9 | g.128617680G>C | CA375075966 | SPTAN1 | c.5434G>C (p.Asp1812His) c.5398G>C (p.Asp1800His) c.4861G>C (p.Asp1621His) c.3021G>C c.1008G>C n.626G>C c.5323G>C (p.Asp1775His) c.5383G>C (p.Asp1795His) c.5338G>C (p.Asp1780His) c.5419G>C (p.Asp1807His) c.5374G>C (p.Asp1792His) c.5359G>C (p.Asp1787His) | |
| 9 | g.128617680G>T | CA375075968 | SPTAN1 | c.5434G>T (p.Asp1812Tyr) c.5398G>T (p.Asp1800Tyr) c.4861G>T (p.Asp1621Tyr) c.3021G>T c.1008G>T n.626G>T c.5323G>T (p.Asp1775Tyr) c.5383G>T (p.Asp1795Tyr) c.5338G>T (p.Asp1780Tyr) c.5419G>T (p.Asp1807Tyr) c.5374G>T (p.Asp1792Tyr) c.5359G>T (p.Asp1787Tyr) | |
| 9 | g.128617681A>C | CA375075977 | SPTAN1 | c.5435A>C (p.Asp1812Ala) c.5399A>C (p.Asp1800Ala) c.4862A>C (p.Asp1621Ala) c.3022A>C c.1009A>C n.627A>C c.5324A>C (p.Asp1775Ala) c.5384A>C (p.Asp1795Ala) c.5339A>C (p.Asp1780Ala) c.5420A>C (p.Asp1807Ala) c.5375A>C (p.Asp1792Ala) c.5360A>C (p.Asp1787Ala) | |
| 9 | g.128617681A>G | CA375075979 | SPTAN1 | c.5435A>G (p.Asp1812Gly) c.5399A>G (p.Asp1800Gly) c.4862A>G (p.Asp1621Gly) c.3022A>G c.1009A>G n.627A>G c.5324A>G (p.Asp1775Gly) c.5384A>G (p.Asp1795Gly) c.5339A>G (p.Asp1780Gly) c.5420A>G (p.Asp1807Gly) c.5375A>G (p.Asp1792Gly) c.5360A>G (p.Asp1787Gly) | |
| 9 | g.128617681A>T | CA375075981 | SPTAN1 | c.5435A>T (p.Asp1812Val) c.5399A>T (p.Asp1800Val) c.4862A>T (p.Asp1621Val) c.3022A>T c.1009A>T n.627A>T c.5324A>T (p.Asp1775Val) c.5384A>T (p.Asp1795Val) c.5339A>T (p.Asp1780Val) c.5420A>T (p.Asp1807Val) c.5375A>T (p.Asp1792Val) c.5360A>T (p.Asp1787Val) | |
| 9 | g.128617682C>A | CA375075985 | SPTAN1 | c.5436C>A (p.Asp1812Glu) c.5400C>A (p.Asp1800Glu) c.4863C>A (p.Asp1621Glu) c.3023C>A c.1010C>A n.628C>A c.5325C>A (p.Asp1775Glu) c.5385C>A (p.Asp1795Glu) c.5340C>A (p.Asp1780Glu) c.5421C>A (p.Asp1807Glu) c.5376C>A (p.Asp1792Glu) c.5361C>A (p.Asp1787Glu) | |
| 9 | g.128617682C= | CA1880364180 | SPTAN1 | c.5436C= (p.Asp1812=) c.5400C= (p.Asp1800=) c.4863C= (p.Asp1621=) c.3023C= c.1010C= n.628C= c.5325C= (p.Asp1775=) c.5385C= (p.Asp1795=) c.5340C= (p.Asp1780=) c.5421C= (p.Asp1807=) c.5376C= (p.Asp1792=) c.5361C= (p.Asp1787=) | |
| 9 | g.128617682C>G | CA375075992 | SPTAN1 | c.5436C>G (p.Asp1812Glu) c.5400C>G (p.Asp1800Glu) c.4863C>G (p.Asp1621Glu) c.3023C>G c.1010C>G n.628C>G c.5325C>G (p.Asp1775Glu) c.5385C>G (p.Asp1795Glu) c.5340C>G (p.Asp1780Glu) c.5421C>G (p.Asp1807Glu) c.5376C>G (p.Asp1792Glu) c.5361C>G (p.Asp1787Glu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128617682C>T | CA5265451 | SPTAN1 | c.5436C>T (p.Asp1812=) c.5400C>T (p.Asp1800=) c.4863C>T (p.Asp1621=) c.3023C>T c.1010C>T n.628C>T c.5325C>T (p.Asp1775=) c.5385C>T (p.Asp1795=) c.5340C>T (p.Asp1780=) c.5421C>T (p.Asp1807=) c.5376C>T (p.Asp1792=) c.5361C>T (p.Asp1787=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617683C>A | CA375075997 | SPTAN1 | c.5437C>A (p.Leu1813Ile) c.5401C>A (p.Leu1801Ile) c.4864C>A (p.Leu1622Ile) c.3024C>A c.1011C>A n.629C>A c.5326C>A (p.Leu1776Ile) c.5386C>A (p.Leu1796Ile) c.5341C>A (p.Leu1781Ile) c.5422C>A (p.Leu1808Ile) c.5377C>A (p.Leu1793Ile) c.5362C>A (p.Leu1788Ile) | |
| 9 | g.128617683C>G | CA375076010 | SPTAN1 | c.5437C>G (p.Leu1813Val) c.5401C>G (p.Leu1801Val) c.4864C>G (p.Leu1622Val) c.3024C>G c.1011C>G n.629C>G c.5326C>G (p.Leu1776Val) c.5386C>G (p.Leu1796Val) c.5341C>G (p.Leu1781Val) c.5422C>G (p.Leu1808Val) c.5377C>G (p.Leu1793Val) c.5362C>G (p.Leu1788Val) | |
| 9 | g.128617683C>T | CA467303765 | SPTAN1 | c.5437C>T (p.Leu1813=) c.5401C>T (p.Leu1801=) c.4864C>T (p.Leu1622=) c.3024C>T c.1011C>T n.629C>T c.5326C>T (p.Leu1776=) c.5386C>T (p.Leu1796=) c.5341C>T (p.Leu1781=) c.5422C>T (p.Leu1808=) c.5377C>T (p.Leu1793=) c.5362C>T (p.Leu1788=) | |
| 9 | g.128617684T>A | CA375076015 | SPTAN1 | c.5438T>A (p.Leu1813Gln) c.5402T>A (p.Leu1801Gln) c.4865T>A (p.Leu1622Gln) c.3025T>A c.1012T>A n.630T>A c.5327T>A (p.Leu1776Gln) c.5387T>A (p.Leu1796Gln) c.5342T>A (p.Leu1781Gln) c.5423T>A (p.Leu1808Gln) c.5378T>A (p.Leu1793Gln) c.5363T>A (p.Leu1788Gln) | |
| 9 | g.128617684T>C | CA375076023 | SPTAN1 | c.5438T>C (p.Leu1813Pro) c.5402T>C (p.Leu1801Pro) c.4865T>C (p.Leu1622Pro) c.3025T>C c.1012T>C n.630T>C c.5327T>C (p.Leu1776Pro) c.5387T>C (p.Leu1796Pro) c.5342T>C (p.Leu1781Pro) c.5423T>C (p.Leu1808Pro) c.5378T>C (p.Leu1793Pro) c.5363T>C (p.Leu1788Pro) | |
| 9 | g.128617684T>G | CA375076019 | SPTAN1 | c.5438T>G (p.Leu1813Arg) c.5402T>G (p.Leu1801Arg) c.4865T>G (p.Leu1622Arg) c.3025T>G c.1012T>G n.630T>G c.5327T>G (p.Leu1776Arg) c.5387T>G (p.Leu1796Arg) c.5342T>G (p.Leu1781Arg) c.5423T>G (p.Leu1808Arg) c.5378T>G (p.Leu1793Arg) c.5363T>G (p.Leu1788Arg) | |
| 9 | g.128617685A= | CA1880364181 | SPTAN1 | c.5439A= (p.Leu1813=) c.5403A= (p.Leu1801=) c.4866A= (p.Leu1622=) c.3026A= c.1013A= n.631A= c.5328A= (p.Leu1776=) c.5388A= (p.Leu1796=) c.5343A= (p.Leu1781=) c.5424A= (p.Leu1808=) c.5379A= (p.Leu1793=) c.5364A= (p.Leu1788=) | |
| 9 | g.128617685A>C | CA467303766 | SPTAN1 | c.5439A>C (p.Leu1813=) c.5403A>C (p.Leu1801=) c.4866A>C (p.Leu1622=) c.3026A>C c.1013A>C n.631A>C c.5328A>C (p.Leu1776=) c.5388A>C (p.Leu1796=) c.5343A>C (p.Leu1781=) c.5424A>C (p.Leu1808=) c.5379A>C (p.Leu1793=) c.5364A>C (p.Leu1788=) | |
| 9 | g.128617685A>G | CA467303767 | SPTAN1 | c.5439A>G (p.Leu1813=) c.5403A>G (p.Leu1801=) c.4866A>G (p.Leu1622=) c.3026A>G c.1013A>G n.631A>G c.5328A>G (p.Leu1776=) c.5388A>G (p.Leu1796=) c.5343A>G (p.Leu1781=) c.5424A>G (p.Leu1808=) c.5379A>G (p.Leu1793=) c.5364A>G (p.Leu1788=) | dbSNP gnomAD v4 |
| 9 | g.128617685A>T | CA467303768 | SPTAN1 | c.5439A>T (p.Leu1813=) c.5403A>T (p.Leu1801=) c.4866A>T (p.Leu1622=) c.3026A>T c.1013A>T n.631A>T c.5328A>T (p.Leu1776=) c.5388A>T (p.Leu1796=) c.5343A>T (p.Leu1781=) c.5424A>T (p.Leu1808=) c.5379A>T (p.Leu1793=) c.5364A>T (p.Leu1788=) |