| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351168T>A | CA391933364 | SPRED1 | c.839T>A (p.Ile280Asn) c.875T>A (p.Ile292Asn) c.617T>A (p.Ile206Asn) c.776T>A (p.Ile259Asn) | |
| 15 | g.38351168T>C | CA391933365 | SPRED1 | c.839T>C (p.Ile280Thr) c.875T>C (p.Ile292Thr) c.617T>C (p.Ile206Thr) c.776T>C (p.Ile259Thr) | |
| 15 | g.38351168T>G | CA391933366 | SPRED1 | c.839T>G (p.Ile280Ser) c.875T>G (p.Ile292Ser) c.617T>G (p.Ile206Ser) c.776T>G (p.Ile259Ser) | |
| 15 | g.38351169T>A | CA490011835 | SPRED1 | c.840T>A (p.Ile280=) c.876T>A (p.Ile292=) c.618T>A (p.Ile206=) c.777T>A (p.Ile259=) | |
| 15 | g.38351169T>C | CA490011834 | SPRED1 | c.840T>C (p.Ile280=) c.876T>C (p.Ile292=) c.618T>C (p.Ile206=) c.777T>C (p.Ile259=) | |
| 15 | g.38351169T>G | CA391933367 | SPRED1 | c.840T>G (p.Ile280Met) c.876T>G (p.Ile292Met) c.618T>G (p.Ile206Met) c.777T>G (p.Ile259Met) | |
| 15 | g.38351170C>A | CA391933368 | SPRED1 | c.841C>A (p.Gln281Lys) c.877C>A (p.Gln293Lys) c.619C>A (p.Gln207Lys) c.778C>A (p.Gln260Lys) | |
| 15 | g.38351170C= | CA2170812599 | SPRED1 | c.841C= (p.Gln281=) c.877C= (p.Gln293=) c.619C= (p.Gln207=) c.778C= (p.Gln260=) | |
| 15 | g.38351170C>G | CA391933369 | SPRED1 | c.841C>G (p.Gln281Glu) c.877C>G (p.Gln293Glu) c.619C>G (p.Gln207Glu) c.778C>G (p.Gln260Glu) | |
| 15 | g.38351170C>T | CA7470191 | SPRED1 | c.841C>T (p.Gln281Ter) c.877C>T (p.Gln293Ter) c.619C>T (p.Gln207Ter) c.778C>T (p.Gln260Ter) | ClinVar dbSNP ExAC |
| 15 | g.38351171A= | CA2170812600 | SPRED1 | c.842A= (p.Gln281=) c.878A= (p.Gln293=) c.620A= (p.Gln207=) c.779A= (p.Gln260=) | |
| 15 | g.38351171A>C | CA391933370 | SPRED1 | c.842A>C (p.Gln281Pro) c.878A>C (p.Gln293Pro) c.620A>C (p.Gln207Pro) c.779A>C (p.Gln260Pro) | |
| 15 | g.38351171A>G | CA391933371 | SPRED1 | c.842A>G (p.Gln281Arg) c.878A>G (p.Gln293Arg) c.620A>G (p.Gln207Arg) c.779A>G (p.Gln260Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351171A>T | CA391933372 | SPRED1 | c.842A>T (p.Gln281Leu) c.878A>T (p.Gln293Leu) c.620A>T (p.Gln207Leu) c.779A>T (p.Gln260Leu) | |
| 15 | g.38351172G>A | CA490011838 | SPRED1 | c.843G>A (p.Gln281=) c.879G>A (p.Gln293=) c.621G>A (p.Gln207=) c.780G>A (p.Gln260=) | ClinVar dbSNP |
| 15 | g.38351172G>C | CA391933374 | SPRED1 | c.843G>C (p.Gln281His) c.879G>C (p.Gln293His) c.621G>C (p.Gln207His) c.780G>C (p.Gln260His) | gnomAD v4 |
| 15 | g.38351172G= | CA2170812601 | SPRED1 | c.843G= (p.Gln281=) c.879G= (p.Gln293=) c.621G= (p.Gln207=) c.780G= (p.Gln260=) | |
| 15 | g.38351172G>T | CA391933373 | SPRED1 | c.843G>T (p.Gln281His) c.879G>T (p.Gln293His) c.621G>T (p.Gln207His) c.780G>T (p.Gln260His) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351173T>A | CA391933375 | SPRED1 | c.844T>A (p.Phe282Ile) c.880T>A (p.Phe294Ile) c.622T>A (p.Phe208Ile) c.781T>A (p.Phe261Ile) | |
| 15 | g.38351173T>C | CA391933376 | SPRED1 | c.844T>C (p.Phe282Leu) c.880T>C (p.Phe294Leu) c.622T>C (p.Phe208Leu) c.781T>C (p.Phe261Leu) | |
| 15 | g.38351173T>G | CA391933377 | SPRED1 | c.844T>G (p.Phe282Val) c.880T>G (p.Phe294Val) c.622T>G (p.Phe208Val) c.781T>G (p.Phe261Val) | |
| 15 | g.38351174T>A | CA391933378 | SPRED1 | c.845T>A (p.Phe282Tyr) c.881T>A (p.Phe294Tyr) c.623T>A (p.Phe208Tyr) c.782T>A (p.Phe261Tyr) | |
| 15 | g.38351174T>C | CA391933379 | SPRED1 | c.845T>C (p.Phe282Ser) c.881T>C (p.Phe294Ser) c.623T>C (p.Phe208Ser) c.782T>C (p.Phe261Ser) | |
| 15 | g.38351174T>G | CA391933380 | SPRED1 | c.845T>G (p.Phe282Cys) c.881T>G (p.Phe294Cys) c.623T>G (p.Phe208Cys) c.782T>G (p.Phe261Cys) | |
| 15 | g.38351175T>A | CA391933381 | SPRED1 | c.846T>A (p.Phe282Leu) c.882T>A (p.Phe294Leu) c.624T>A (p.Phe208Leu) c.783T>A (p.Phe261Leu) | |
| 15 | g.38351175T>C | CA490011844 | SPRED1 | c.846T>C (p.Phe282=) c.882T>C (p.Phe294=) c.624T>C (p.Phe208=) c.783T>C (p.Phe261=) | |
| 15 | g.38351175T>G | CA391933382 | SPRED1 | c.846T>G (p.Phe282Leu) c.882T>G (p.Phe294Leu) c.624T>G (p.Phe208Leu) c.783T>G (p.Phe261Leu) | |
| 15 | g.38351176T>A | CA391933383 | SPRED1 | c.847T>A (p.Ser283Thr) c.883T>A (p.Ser295Thr) c.625T>A (p.Ser209Thr) c.784T>A (p.Ser262Thr) | |
| 15 | g.38351176T>C | CA391933384 | SPRED1 | c.847T>C (p.Ser283Pro) c.883T>C (p.Ser295Pro) c.625T>C (p.Ser209Pro) c.784T>C (p.Ser262Pro) | |
| 15 | g.38351176T>G | CA391933385 | SPRED1 | c.847T>G (p.Ser283Ala) c.883T>G (p.Ser295Ala) c.625T>G (p.Ser209Ala) c.784T>G (p.Ser262Ala) | gnomAD v4 |
| 15 | g.38351177C>A | CA391933386 | SPRED1 | c.848C>A (p.Ser283Tyr) c.884C>A (p.Ser295Tyr) c.626C>A (p.Ser209Tyr) c.785C>A (p.Ser262Tyr) | |
| 15 | g.38351177C>G | CA391933387 | SPRED1 | c.848C>G (p.Ser283Cys) c.884C>G (p.Ser295Cys) c.626C>G (p.Ser209Cys) c.785C>G (p.Ser262Cys) | |
| 15 | g.38351177C>T | CA391933388 | SPRED1 | c.848C>T (p.Ser283Phe) c.884C>T (p.Ser295Phe) c.626C>T (p.Ser209Phe) c.785C>T (p.Ser262Phe) | |
| 15 | g.38351178T>A | CA490011849 | SPRED1 | c.849T>A (p.Ser283=) c.885T>A (p.Ser295=) c.627T>A (p.Ser209=) c.786T>A (p.Ser262=) | |
| 15 | g.38351178T>C | CA490011850 | SPRED1 | c.849T>C (p.Ser283=) c.885T>C (p.Ser295=) c.627T>C (p.Ser209=) c.786T>C (p.Ser262=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351178T>G | CA490011851 | SPRED1 | c.849T>G (p.Ser283=) c.885T>G (p.Ser295=) c.627T>G (p.Ser209=) c.786T>G (p.Ser262=) | dbSNP gnomAD v4 |
| 15 | g.38351178T= | CA2170812602 | SPRED1 | c.849T= (p.Ser283=) c.885T= (p.Ser295=) c.627T= (p.Ser209=) c.786T= (p.Ser262=) | |
| 15 | g.38351179A>C | CA391933391 | SPRED1 | c.850A>C (p.Lys284Gln) c.886A>C (p.Lys296Gln) c.628A>C (p.Lys210Gln) c.787A>C (p.Lys263Gln) | |
| 15 | g.38351179A>G | CA391933390 | SPRED1 | c.850A>G (p.Lys284Glu) c.886A>G (p.Lys296Glu) c.628A>G (p.Lys210Glu) c.787A>G (p.Lys263Glu) | |
| 15 | g.38351179A>T | CA391933389 | SPRED1 | c.850A>T (p.Lys284Ter) c.886A>T (p.Lys296Ter) c.628A>T (p.Lys210Ter) c.787A>T (p.Lys263Ter) | |
| 15 | g.38351180A>C | CA391933393 | SPRED1 | c.851A>C (p.Lys284Thr) c.887A>C (p.Lys296Thr) c.629A>C (p.Lys210Thr) c.788A>C (p.Lys263Thr) | |
| 15 | g.38351180A>G | CA391933392 | SPRED1 | c.851A>G (p.Lys284Arg) c.887A>G (p.Lys296Arg) c.629A>G (p.Lys210Arg) c.788A>G (p.Lys263Arg) | |
| 15 | g.38351180A>T | CA391933394 | SPRED1 | c.851A>T (p.Lys284Ile) c.887A>T (p.Lys296Ile) c.629A>T (p.Lys210Ile) c.788A>T (p.Lys263Ile) | |
| 15 | g.38351181A= | CA2170812603 | SPRED1 | c.852A= (p.Lys284=) c.888A= (p.Lys296=) c.630A= (p.Lys210=) c.789A= (p.Lys263=) | |
| 15 | g.38351181A>C | CA391933395 | SPRED1 | c.852A>C (p.Lys284Asn) c.888A>C (p.Lys296Asn) c.630A>C (p.Lys210Asn) c.789A>C (p.Lys263Asn) | dbSNP gnomAD v2 |
| 15 | g.38351181A>G | CA490011854 | SPRED1 | c.852A>G (p.Lys284=) c.888A>G (p.Lys296=) c.630A>G (p.Lys210=) c.789A>G (p.Lys263=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351181A>T | CA391933396 | SPRED1 | c.852A>T (p.Lys284Asn) c.888A>T (p.Lys296Asn) c.630A>T (p.Lys210Asn) c.789A>T (p.Lys263Asn) | |
| 15 | g.38351182C>A | CA391933397 | SPRED1 | c.853C>A (p.Pro285Thr) c.889C>A (p.Pro297Thr) c.631C>A (p.Pro211Thr) c.790C>A (p.Pro264Thr) | gnomAD v4 |
| 15 | g.38351182C>G | CA391933398 | SPRED1 | c.853C>G (p.Pro285Ala) c.889C>G (p.Pro297Ala) c.631C>G (p.Pro211Ala) c.790C>G (p.Pro264Ala) | |
| 15 | g.38351182C>T | CA391933399 | SPRED1 | c.853C>T (p.Pro285Ser) c.889C>T (p.Pro297Ser) c.631C>T (p.Pro211Ser) c.790C>T (p.Pro264Ser) |