11 | g.47447993G>A | CA221722155 | RAPSN | c.350C>T (p.Ala117Val)
| dbSNP COSMIC |
11 | g.47447993G>C | CA380334316 | RAPSN | c.350C>G (p.Ala117Gly)
| gnomAD v4 |
11 | g.47447993G= | CA1969378457 | RAPSN | c.350C= (p.Ala117=)
| |
11 | g.47447993G>T | CA380334317 | RAPSN | c.350C>A (p.Ala117Glu)
| gnomAD v4 |
11 | g.47447994C>A | CA380334319 | RAPSN | c.349G>T (p.Ala117Ser)
| |
11 | g.47447994C>G | CA380334321 | RAPSN | c.349G>C (p.Ala117Pro)
| |
11 | g.47447994C>T | CA380334323 | RAPSN | c.349G>A (p.Ala117Thr)
| |
11 | g.47447996del | CA2574817223 | RAPSN | c.349del (p.Ala117GlnfsTer11)
| |
11 | g.47447995C>A | CA380334326 | RAPSN | c.348G>T (p.Arg116Ser)
| dbSNP |
11 | g.47447995C= | CA1969378459 | RAPSN | c.348G= (p.Arg116=)
| |
11 | g.47447995C>G | CA380334324 | RAPSN | c.348G>C (p.Arg116Ser)
| |
11 | g.47447995C>T | CA474430658 | RAPSN | c.348G>A (p.Arg116=)
| dbSNP |
11 | g.47447996C>A | CA380334328 | RAPSN | c.347G>T (p.Arg116Met)
| |
11 | g.47447996C>G | CA380334329 | RAPSN | c.347G>C (p.Arg116Thr)
| |
11 | g.47447996C>T | CA380334331 | RAPSN | c.347G>A (p.Arg116Lys)
| |
11 | g.47447996_47447997delinsCT | CA1969378461 | RAPSN | c.346_347delinsAG (p.Arg116=)
| |
11 | g.47447997del | CA599374662 | RAPSN | c.346del (p.Arg116GlyfsTer12)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.47447997T>A | CA380334332 | RAPSN | c.346A>T (p.Arg116Trp)
| |
11 | g.47447997T>C | CA380334334 | RAPSN | c.346A>G (p.Arg116Gly)
| |
11 | g.47447997T>G | CA474430659 | RAPSN | c.346A>C (p.Arg116=)
| |
11 | g.47447998G>A | CA474430660 | RAPSN | c.345C>T (p.Thr115=)
| ClinVar |
11 | g.47447998G>C | CA474430661 | RAPSN | c.345C>G (p.Thr115=)
| |
11 | g.47447998G= | CA1969378463 | RAPSN | c.345C= (p.Thr115=)
| |
11 | g.47447998G>T | CA474430662 | RAPSN | c.345C>A (p.Thr115=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47447999G>A | CA380334342 | RAPSN | c.344C>T (p.Thr115Ile)
| |
11 | g.47447999G>C | CA380334337 | RAPSN | c.344C>G (p.Thr115Ser)
| |
11 | g.47447999G>T | CA380334336 | RAPSN | c.344C>A (p.Thr115Asn)
| |
11 | g.47448000T>A | CA380334344 | RAPSN | c.343A>T (p.Thr115Ser)
| |
11 | g.47448000T>C | CA380334346 | RAPSN | c.343A>G (p.Thr115Ala)
| |
11 | g.47448000T>G | CA380334347 | RAPSN | c.343A>C (p.Thr115Pro)
| |
11 | g.47448001A>C | CA474430663 | RAPSN | c.342T>G (p.Gly114=)
| |
11 | g.47448001A>G | CA474430664 | RAPSN | c.342T>C (p.Gly114=)
| |
11 | g.47448001A>T | CA474430665 | RAPSN | c.342T>A (p.Gly114=)
| |
11 | g.47448002C>A | CA380334349 | RAPSN | c.341G>T (p.Gly114Val)
| gnomAD v4 |
11 | g.47448002C>G | CA380334351 | RAPSN | c.341G>C (p.Gly114Ala)
| |
11 | g.47448002C>T | CA380334352 | RAPSN | c.341G>A (p.Gly114Asp)
| |
11 | g.47448003C>A | CA380334356 | RAPSN | c.340G>T (p.Gly114Cys)
| |
11 | g.47448003C>G | CA380334353 | RAPSN | c.340G>C (p.Gly114Arg)
| |
11 | g.47448003C>T | CA380334355 | RAPSN | c.340G>A (p.Gly114Ser)
| |
11 | g.47448004A>C | CA474430668 | RAPSN | c.339T>G (p.Pro113=)
| |
11 | g.47448004A>G | CA474430667 | RAPSN | c.339T>C (p.Pro113=)
| ClinVar |
11 | g.47448004A>T | CA474430666 | RAPSN | c.339T>A (p.Pro113=)
| |
11 | g.47448005G>A | CA380334357 | RAPSN | c.338C>T (p.Pro113Leu)
| |
11 | g.47448005G>C | CA380334358 | RAPSN | c.338C>G (p.Pro113Arg)
| |
11 | g.47448005G>T | CA380334359 | RAPSN | c.338C>A (p.Pro113His)
| |
11 | g.47448006G>A | CA380334360 | RAPSN | c.337C>T (p.Pro113Ser)
| gnomAD v4 |
11 | g.47448006G>C | CA380334362 | RAPSN | c.337C>G (p.Pro113Ala)
| |
11 | g.47448006G>T | CA380334364 | RAPSN | c.337C>A (p.Pro113Thr)
| |
11 | g.47448007C>A | CA5976759 | RAPSN | c.336G>T (p.Leu112=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448007C= | CA1969378465 | RAPSN | c.336G= (p.Leu112=)
| |
11 | g.47448007C>G | CA474430670 | RAPSN | c.336G>C (p.Leu112=)
| |
11 | g.47448007C>T | CA474430669 | RAPSN | c.336G>A (p.Leu112=)
| ClinVar |
11 | g.47448007_47448008insCTCCGAGT | CA2613407954 | RAPSN | c.335_336insACTCGGAG (p.Pro113LeufsTer18)
| gnomAD v4 |
11 | g.47448008A>C | CA380334371 | RAPSN | c.335T>G (p.Leu112Arg)
| |
11 | g.47448008A>G | CA380334368 | RAPSN | c.335T>C (p.Leu112Pro)
| |
11 | g.47448008A>T | CA380334370 | RAPSN | c.335T>A (p.Leu112Gln)
| |
11 | g.47448009G>A | CA474430671 | RAPSN | c.334C>T (p.Leu112=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.47448009G>C | CA380334374 | RAPSN | c.334C>G (p.Leu112Val)
| |
11 | g.47448009G= | CA1969378468 | RAPSN | c.334C= (p.Leu112=)
| |
11 | g.47448009G>T | CA380334378 | RAPSN | c.334C>A (p.Leu112Met)
| |
11 | g.47448010C>A | CA474430672 | RAPSN | c.333G>T (p.Gly111=)
| ClinVar dbSNP |
11 | g.47448010C>G | CA474430674 | RAPSN | c.333G>C (p.Gly111=)
| |
11 | g.47448010C>T | CA474430673 | RAPSN | c.333G>A (p.Gly111=)
| gnomAD v4 |
11 | g.47448010_47448011insTGGGATTA | CA2613407995 | RAPSN | c.332_333insTAATCCCA (p.Leu112AsnfsTer19)
| gnomAD v4 |
11 | g.47448011C>A | CA380334380 | RAPSN | c.332G>T (p.Gly111Val)
| |
11 | g.47448011C>G | CA380334382 | RAPSN | c.332G>C (p.Gly111Ala)
| |
11 | g.47448011C>T | CA380334385 | RAPSN | c.332G>A (p.Gly111Glu)
| gnomAD v4 |
11 | g.47448012C>A | CA380334387 | RAPSN | c.331G>T (p.Gly111Trp)
| |
11 | g.47448012C= | CA1969378470 | RAPSN | c.331G= (p.Gly111=)
| |
11 | g.47448012C>G | CA380334393 | RAPSN | c.331G>C (p.Gly111Arg)
| |
11 | g.47448012C>T | CA221722157 | RAPSN | c.331G>A (p.Gly111Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448012_47448013del | CA2613407997 | RAPSN | c.330_331del (p.Gly111AlafsTer?)
| gnomAD v4 |
11 | g.47448013A>C | CA474430675 | RAPSN | c.330T>G (p.Leu110=)
| |
11 | g.47448013A>G | CA474430676 | RAPSN | c.330T>C (p.Leu110=)
| |
11 | g.47448013A>T | CA474430677 | RAPSN | c.330T>A (p.Leu110=)
| |
11 | g.47448014A>C | CA380334396 | RAPSN | c.329T>G (p.Leu110Arg)
| |
11 | g.47448014A>G | CA380334397 | RAPSN | c.329T>C (p.Leu110Pro)
| |
11 | g.47448014A>T | CA380334400 | RAPSN | c.329T>A (p.Leu110His)
| |
11 | g.47448015G>A | CA380334403 | RAPSN | c.328C>T (p.Leu110Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448015G>C | CA380334405 | RAPSN | c.328C>G (p.Leu110Val)
| |
11 | g.47448015G= | CA1969378472 | RAPSN | c.328C= (p.Leu110=)
| |
11 | g.47448015G>T | CA380334410 | RAPSN | c.328C>A (p.Leu110Ile)
| |
11 | g.47448016G>A | CA474430678 | RAPSN | c.327C>T (p.Cys109=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47448016G>C | CA380334415 | RAPSN | c.327C>G (p.Cys109Trp)
| |
11 | g.47448016G= | CA1969378474 | RAPSN | c.327C= (p.Cys109=)
| |
11 | g.47448016G>T | CA5976760 | RAPSN | c.327C>A (p.Cys109Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47448017C>A | CA380334423 | RAPSN | c.326G>T (p.Cys109Phe)
| gnomAD v4 |
11 | g.47448017C>G | CA380334424 | RAPSN | c.326G>C (p.Cys109Ser)
| |
11 | g.47448017C>T | CA380334426 | RAPSN | c.326G>A (p.Cys109Tyr)
| |
11 | g.47448018A= | CA1969378477 | RAPSN | c.325T= (p.Cys109=)
| |
11 | g.47448018A>C | CA380334428 | RAPSN | c.325T>G (p.Cys109Gly)
| ClinVar dbSNP |
11 | g.47448018A>G | CA380334433 | RAPSN | c.325T>C (p.Cys109Arg)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.47448018A>T | CA380334431 | RAPSN | c.325T>A (p.Cys109Ser)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.47448019G>A | CA474430679 | RAPSN | c.324C>T (p.Thr108=)
| |
11 | g.47448019G>C | CA474430680 | RAPSN | c.324C>G (p.Thr108=)
| |
11 | g.47448019G>T | CA474430681 | RAPSN | c.324C>A (p.Thr108=)
| |
11 | g.47448020G>A | CA380334434 | RAPSN | c.323C>T (p.Thr108Ile)
| |
11 | g.47448020G>C | CA380334438 | RAPSN | c.323C>G (p.Thr108Ser)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.47448020G= | CA1969378479 | RAPSN | c.323C= (p.Thr108=)
| |
11 | g.47448020G>T | CA380334436 | RAPSN | c.323C>A (p.Thr108Asn)
| gnomAD v4 |
11 | g.47448021T>A | CA380334441 | RAPSN | c.322A>T (p.Thr108Ser)
| |
11 | g.47448021T>C | CA380334443 | RAPSN | c.322A>G (p.Thr108Ala)
| |
11 | g.47448021T>G | CA380334445 | RAPSN | c.322A>C (p.Thr108Pro)
| dbSNP |
11 | g.47448021T= | CA1969378482 | RAPSN | c.322A= (p.Thr108=)
| |
11 | g.47448022C>A | CA380334447 | RAPSN | c.321G>T (p.Lys107Asn)
| |
11 | g.47448022C= | CA1969378486 | RAPSN | c.321G= (p.Lys107=)
| |
11 | g.47448022C>G | CA380334450 | RAPSN | c.321G>C (p.Lys107Asn)
| |
11 | g.47448022C>T | CA5976761 | RAPSN | c.321G>A (p.Lys107=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47448023T>A | CA380334455 | RAPSN | c.320A>T (p.Lys107Met)
| |
11 | g.47448023T>C | CA380334457 | RAPSN | c.320A>G (p.Lys107Arg)
| |
11 | g.47448023T>G | CA380334459 | RAPSN | c.320A>C (p.Lys107Thr)
| |
11 | g.47448024T>A | CA380334463 | RAPSN | c.319A>T (p.Lys107Ter)
| |
11 | g.47448024T>C | CA380334465 | RAPSN | c.319A>G (p.Lys107Glu)
| |
11 | g.47448024T>G | CA380334466 | RAPSN | c.319A>C (p.Lys107Gln)
| gnomAD v4 |
11 | g.47448026_47448045del | CA2573053518 | RAPSN | c.300_319del (p.His100GlnfsTer?)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448025G>A | CA474430682 | RAPSN | c.318C>T (p.Cys106=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.47448025G>C | CA380334468 | RAPSN | c.318C>G (p.Cys106Trp)
| |
11 | g.47448025G= | CA1969378489 | RAPSN | c.318C= (p.Cys106=)
| |
11 | g.47448025G>T | CA380334470 | RAPSN | c.318C>A (p.Cys106Ter)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448026C>A | CA380334473 | RAPSN | c.317G>T (p.Cys106Phe)
| |
11 | g.47448026C= | CA1969378491 | RAPSN | c.317G= (p.Cys106=)
| |
11 | g.47448026C>G | CA380334476 | RAPSN | c.317G>C (p.Cys106Ser)
| |
11 | g.47448026C>T | CA380334479 | RAPSN | c.317G>A (p.Cys106Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448027A= | CA1969378495 | RAPSN | c.316T= (p.Cys106=)
| |
11 | g.47448027A>C | CA380334481 | RAPSN | c.316T>G (p.Cys106Gly)
| |
11 | g.47448027A>G | CA221722170 | RAPSN | c.316T>C (p.Cys106Arg)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448027A>T | CA380334486 | RAPSN | c.316T>A (p.Cys106Ser)
| |
11 | g.47448028G>A | CA474430683 | RAPSN | c.315C>T (p.Tyr105=)
| |
11 | g.47448028G>C | CA380334488 | RAPSN | c.315C>G (p.Tyr105Ter)
| |
11 | g.47448028G>T | CA380334491 | RAPSN | c.315C>A (p.Tyr105Ter)
| |
11 | g.47448029T>A | CA380334494 | RAPSN | c.314A>T (p.Tyr105Phe)
| |
11 | g.47448029T>C | CA380334497 | RAPSN | c.314A>G (p.Tyr105Cys)
| ClinVar dbSNP |
11 | g.47448029T>G | CA380334499 | RAPSN | c.314A>C (p.Tyr105Ser)
| |
11 | g.47448029T= | CA1969378498 | RAPSN | c.314A= (p.Tyr105=)
| |
11 | g.47448030A= | CA1969378501 | RAPSN | c.313T= (p.Tyr105=)
| |
11 | g.47448030A>C | CA380334503 | RAPSN | c.313T>G (p.Tyr105Asp)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.47448030A>G | CA380334507 | RAPSN | c.313T>C (p.Tyr105His)
| |
11 | g.47448030A>T | CA380334501 | RAPSN | c.313T>A (p.Tyr105Asn)
| |
11 | g.47448031G>A | CA474430686 | RAPSN | c.312C>T (p.Ser104=)
| COSMIC |
11 | g.47448031G>C | CA474430685 | RAPSN | c.312C>G (p.Ser104=)
| |
11 | g.47448031G>T | CA474430684 | RAPSN | c.312C>A (p.Ser104=)
| |
11 | g.47448032G>A | CA5976762 | RAPSN | c.311C>T (p.Ser104Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47448032G>C | CA380334512 | RAPSN | c.311C>G (p.Ser104Cys)
| |
11 | g.47448032G= | CA1969378504 | RAPSN | c.311C= (p.Ser104=)
| |
11 | g.47448032G>T | CA380334514 | RAPSN | c.311C>A (p.Ser104Tyr)
| |
11 | g.47448033A= | CA1969378506 | RAPSN | c.310T= (p.Ser104=)
| |
11 | g.47448033A>C | CA5976763 | RAPSN | c.310T>G (p.Ser104Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448033A>G | CA380334517 | RAPSN | c.310T>C (p.Ser104Pro)
| |
11 | g.47448033A>T | CA380334520 | RAPSN | c.310T>A (p.Ser104Thr)
| gnomAD v4 |
11 | g.47448034G>A | CA474430687 | RAPSN | c.309C>T (p.Ile103=)
| |
11 | g.47448034G>C | CA380334523 | RAPSN | c.309C>G (p.Ile103Met)
| |
11 | g.47448034G>T | CA474430688 | RAPSN | c.309C>A (p.Ile103=)
| |
11 | g.47448035A>C | CA380334526 | RAPSN | c.308T>G (p.Ile103Ser)
| |
11 | g.47448035A>G | CA380334527 | RAPSN | c.308T>C (p.Ile103Thr)
| gnomAD v4 |
11 | g.47448035A>T | CA380334532 | RAPSN | c.308T>A (p.Ile103Asn)
| |
11 | g.47448036T>A | CA380334534 | RAPSN | c.307A>T (p.Ile103Phe)
| |
11 | g.47448036T>C | CA380334537 | RAPSN | c.307A>G (p.Ile103Val)
| gnomAD v4 |
11 | g.47448036T>G | CA380334543 | RAPSN | c.307A>C (p.Ile103Leu)
| |
11 | g.47448037G>A | CA474430689 | RAPSN | c.306C>T (p.Thr102=)
| dbSNP |
11 | g.47448037G>C | CA474430691 | RAPSN | c.306C>G (p.Thr102=)
| |
11 | g.47448037G= | CA1969378508 | RAPSN | c.306C= (p.Thr102=)
| |
11 | g.47448037G>T | CA474430690 | RAPSN | c.306C>A (p.Thr102=)
| gnomAD v4 |
11 | g.47448038G>A | CA380334551 | RAPSN | c.305C>T (p.Thr102Ile)
| |
11 | g.47448038G>C | CA380334548 | RAPSN | c.305C>G (p.Thr102Ser)
| |
11 | g.47448038G>T | CA380334547 | RAPSN | c.305C>A (p.Thr102Asn)
| |
11 | g.47448039T>A | CA380334552 | RAPSN | c.304A>T (p.Thr102Ser)
| |
11 | g.47448039T>C | CA380334553 | RAPSN | c.304A>G (p.Thr102Ala)
| gnomAD v4 |
11 | g.47448039T>G | CA380334554 | RAPSN | c.304A>C (p.Thr102Pro)
| |
11 | g.47448040C>A | CA380334556 | RAPSN | c.303G>T (p.Lys101Asn)
| |
11 | g.47448040C>G | CA380334558 | RAPSN | c.303G>C (p.Lys101Asn)
| |
11 | g.47448040C>T | CA474430692 | RAPSN | c.303G>A (p.Lys101=)
| |
11 | g.47448041T>A | CA380334560 | RAPSN | c.302A>T (p.Lys101Met)
| |
11 | g.47448041T>C | CA5976764 | RAPSN | c.302A>G (p.Lys101Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448041T>G | CA380334561 | RAPSN | c.302A>C (p.Lys101Thr)
| |
11 | g.47448041T= | CA1969378510 | RAPSN | c.302A= (p.Lys101=)
| |
11 | g.47448042T>A | CA380334562 | RAPSN | c.301A>T (p.Lys101Ter)
| |
11 | g.47448042T>C | CA380334563 | RAPSN | c.301A>G (p.Lys101Glu)
| |
11 | g.47448042T>G | CA380334564 | RAPSN | c.301A>C (p.Lys101Gln)
| |
11 | g.47448043G>A | CA474430490 | RAPSN | c.300C>T (p.His100=)
| |
11 | g.47448043G>C | CA380334568 | RAPSN | c.300C>G (p.His100Gln)
| |
11 | g.47448043G>T | CA380334569 | RAPSN | c.300C>A (p.His100Gln)
| |
11 | g.47448044T>A | CA380334572 | RAPSN | c.299A>T (p.His100Leu)
| |
11 | g.47448044T>C | CA380334571 | RAPSN | c.299A>G (p.His100Arg)
| gnomAD v4 |
11 | g.47448044T>G | CA380334570 | RAPSN | c.299A>C (p.His100Pro)
| gnomAD v4 |
11 | g.47448045G>A | CA380334575 | RAPSN | c.298C>T (p.His100Tyr)
| gnomAD v4 |
11 | g.47448045G>C | CA380334581 | RAPSN | c.298C>G (p.His100Asp)
| |
11 | g.47448045G>T | CA380334578 | RAPSN | c.298C>A (p.His100Asn)
| |
11 | g.47448046A>C | CA380334582 | RAPSN | c.297T>G (p.Phe99Leu)
| |
11 | g.47448046A>G | CA474430491 | RAPSN | c.297T>C (p.Phe99=)
| |
11 | g.47448046A>T | CA380334583 | RAPSN | c.297T>A (p.Phe99Leu)
| |
11 | g.47448048del | CA2573147338 | RAPSN | c.297del (p.His100ThrfsTer28)
| ClinVar dbSNP |
11 | g.47448047A>C | CA380334584 | RAPSN | c.296T>G (p.Phe99Cys)
| |
11 | g.47448047A>G | CA380334585 | RAPSN | c.296T>C (p.Phe99Ser)
| |
11 | g.47448047A>T | CA380334586 | RAPSN | c.296T>A (p.Phe99Tyr)
| |
11 | g.47448048A= | CA1969378514 | RAPSN | c.295T= (p.Phe99=)
| |
11 | g.47448048A>C | CA380334587 | RAPSN | c.295T>G (p.Phe99Val)
| |
11 | g.47448048A>G | CA221722193 | RAPSN | c.295T>C (p.Phe99Leu)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.47448048A>T | CA380334589 | RAPSN | c.295T>A (p.Phe99Ile)
| |
11 | g.47448049C>A | CA380334592 | RAPSN | c.294G>T (p.Glu98Asp)
| |
11 | g.47448049C= | CA1969378517 | RAPSN | c.294G= (p.Glu98=)
| |
11 | g.47448049C>G | CA380334600 | RAPSN | c.294G>C (p.Glu98Asp)
| |
11 | g.47448049C>T | CA474430492 | RAPSN | c.294G>A (p.Glu98=)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448050T>A | CA380334601 | RAPSN | c.293A>T (p.Glu98Val)
| |
11 | g.47448050T>C | CA380334602 | RAPSN | c.293A>G (p.Glu98Gly)
| |
11 | g.47448050T>G | CA380334603 | RAPSN | c.293A>C (p.Glu98Ala)
| |
11 | g.47448051C>A | CA380334608 | RAPSN | c.292G>T (p.Glu98Ter)
| |
11 | g.47448051C= | CA1969378519 | RAPSN | c.292G= (p.Glu98=)
| |
11 | g.47448051C>G | CA380334605 | RAPSN | c.292G>C (p.Glu98Gln)
| |
11 | g.47448051C>T | CA5976765 | RAPSN | c.292G>A (p.Glu98Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448052G>A | CA474430493 | RAPSN | c.291C>T (p.Cys97=)
| gnomAD v4 |
11 | g.47448052G>C | CA380334612 | RAPSN | c.291C>G (p.Cys97Trp)
| |
11 | g.47448052G= | CA1969378521 | RAPSN | c.291C= (p.Cys97=)
| |
11 | g.47448052G>T | CA221722215 | RAPSN | c.291C>A (p.Cys97Ter)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448053C>A | CA380334627 | RAPSN | c.290G>T (p.Cys97Phe)
| |
11 | g.47448053C>G | CA380334630 | RAPSN | c.290G>C (p.Cys97Ser)
| |
11 | g.47448053C>T | CA380334633 | RAPSN | c.290G>A (p.Cys97Tyr)
| ClinVar dbSNP |
11 | g.47448054A>C | CA380334639 | RAPSN | c.289T>G (p.Cys97Gly)
| |
11 | g.47448054A>G | CA380334643 | RAPSN | c.289T>C (p.Cys97Arg)
| |
11 | g.47448054A>T | CA380334646 | RAPSN | c.289T>A (p.Cys97Ser)
| |
11 | g.47448055del | CA2695201133 | RAPSN | c.288del (p.Cys97AlafsTer?)
| ClinVar |
11 | g.47448055C>A | CA474430494 | RAPSN | c.288G>T (p.Leu96=)
| |
11 | g.47448055C= | CA1969378524 | RAPSN | c.288G= (p.Leu96=)
| |
11 | g.47448055C>G | CA474430495 | RAPSN | c.288G>C (p.Leu96=)
| |
11 | g.47448055C>T | CA474430496 | RAPSN | c.288G>A (p.Leu96=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.47448056A= | CA1969378527 | RAPSN | c.287T= (p.Leu96=)
| |
11 | g.47448056A>C | CA380334651 | RAPSN | c.287T>G (p.Leu96Arg)
| dbSNP |
11 | g.47448056A>G | CA380334653 | RAPSN | c.287T>C (p.Leu96Pro)
| dbSNP gnomAD v4 |
11 | g.47448056A>T | CA380334656 | RAPSN | c.287T>A (p.Leu96Gln)
| |
11 | g.47448057G>A | CA474430497 | RAPSN | c.286C>T (p.Leu96=)
| ClinVar |
11 | g.47448057G>C | CA380334677 | RAPSN | c.286C>G (p.Leu96Val)
| |
11 | g.47448057G>T | CA380334679 | RAPSN | c.286C>A (p.Leu96Met)
| |
11 | g.47448058C>A | CA380334688 | RAPSN | c.285G>T (p.Lys95Asn)
| |
11 | g.47448058C>G | CA380334689 | RAPSN | c.285G>C (p.Lys95Asn)
| |
11 | g.47448058C>T | CA474430498 | RAPSN | c.285G>A (p.Lys95=)
| gnomAD v4 |
11 | g.47448059T>A | CA380334692 | RAPSN | c.284A>T (p.Lys95Met)
| |
11 | g.47448059T>C | CA380334694 | RAPSN | c.284A>G (p.Lys95Arg)
| |
11 | g.47448059T>G | CA380334697 | RAPSN | c.284A>C (p.Lys95Thr)
| |
11 | g.47448060T>A | CA380334698 | RAPSN | c.283A>T (p.Lys95Ter)
| |
11 | g.47448060T>C | CA380334700 | RAPSN | c.283A>G (p.Lys95Glu)
| |
11 | g.47448060T>G | CA380334704 | RAPSN | c.283A>C (p.Lys95Gln)
| |
11 | g.47448061C>A | CA380334707 | RAPSN | c.282G>T (p.Glu94Asp)
| |
11 | g.47448061C>G | CA380334710 | RAPSN | c.282G>C (p.Glu94Asp)
| ClinVar |
11 | g.47448061C>T | CA474430499 | RAPSN | c.282G>A (p.Glu94=)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448062T>A | CA380334712 | RAPSN | c.281A>T (p.Glu94Val)
| |
11 | g.47448062T>C | CA380334713 | RAPSN | c.281A>G (p.Glu94Gly)
| |
11 | g.47448062T>G | CA380334715 | RAPSN | c.281A>C (p.Glu94Ala)
| |
11 | g.47448063del | CA2740093718 | RAPSN | c.280del (p.Glu94ArgfsTer?)
| ClinVar |
11 | g.47448063C>A | CA380334733 | RAPSN | c.280G>T (p.Glu94Ter)
| |
11 | g.47448063C= | CA1969378532 | RAPSN | c.280G= (p.Glu94=)
| |
11 | g.47448063C>G | CA380334721 | RAPSN | c.280G>C (p.Glu94Gln)
| |
11 | g.47448063C>T | CA5976766 | RAPSN | c.280G>A (p.Glu94Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448063_47448066delinsCGTT | CA1969378533 | RAPSN | c.277_280delinsAACG (p.Asn93=)
| |
11 | g.47448064G>A | CA221722216 | RAPSN | c.279C>T (p.Asn93=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47448064G>C | CA380334736 | RAPSN | c.279C>G (p.Asn93Lys)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.47448064G= | CA1969378541 | RAPSN | c.279C= (p.Asn93=)
| |
11 | g.47448064G>T | CA380334737 | RAPSN | c.279C>A (p.Asn93Lys)
| |
11 | g.47448065_47448067del | CA1969378543 | RAPSN | c.277_279del (p.Asn93del)
| dbSNP gnomAD v4 |
11 | g.47448065T>A | CA380334738 | RAPSN | c.278A>T (p.Asn93Ile)
| |
11 | g.47448065T>C | CA380334739 | RAPSN | c.278A>G (p.Asn93Ser)
| gnomAD v4 |
11 | g.47448065T>G | CA380334740 | RAPSN | c.278A>C (p.Asn93Thr)
| |
11 | g.47448066T>A | CA380334744 | RAPSN | c.277A>T (p.Asn93Tyr)
| |
11 | g.47448066T>C | CA380334745 | RAPSN | c.277A>G (p.Asn93Asp)
| dbSNP |
11 | g.47448066T>G | CA380334748 | RAPSN | c.277A>C (p.Asn93His)
| |
11 | g.47448067G>A | CA474430500 | RAPSN | c.276C>T (p.Ser92=)
| |
11 | g.47448067G>C | CA380334760 | RAPSN | c.276C>G (p.Ser92Arg)
| |
11 | g.47448067G>T | CA380334762 | RAPSN | c.276C>A (p.Ser92Arg)
| |
11 | g.47448068C>A | CA380334766 | RAPSN | c.275G>T (p.Ser92Ile)
| |
11 | g.47448068C>G | CA380334768 | RAPSN | c.275G>C (p.Ser92Thr)
| |
11 | g.47448068C>T | CA380334769 | RAPSN | c.275G>A (p.Ser92Asn)
| |
11 | g.47448069T>A | CA380334772 | RAPSN | c.274A>T (p.Ser92Cys)
| |
11 | g.47448069T>C | CA380334771 | RAPSN | c.274A>G (p.Ser92Gly)
| dbSNP gnomAD v4 |
11 | g.47448069T>G | CA380334770 | RAPSN | c.274A>C (p.Ser92Arg)
| |
11 | g.47448070G>A | CA474430501 | RAPSN | c.273C>T (p.Arg91=)
| |
11 | g.47448070G>C | CA474430502 | RAPSN | c.273C>G (p.Arg91=)
| ClinVar |
11 | g.47448070G>T | CA474430503 | RAPSN | c.273C>A (p.Arg91=)
| |
11 | g.47448071C>A | CA5976768 | RAPSN | c.272G>T (p.Arg91Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448071C= | CA1969378546 | RAPSN | c.272G= (p.Arg91=)
| |
11 | g.47448071C>G | CA380334774 | RAPSN | c.272G>C (p.Arg91Pro)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448071C>T | CA5976767 | RAPSN | c.272G>A (p.Arg91His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448072G>A | CA5976769 | RAPSN | c.271C>T (p.Arg91Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448072G>C | CA380334784 | RAPSN | c.271C>G (p.Arg91Gly)
| gnomAD v4 |
11 | g.47448072G= | CA1969378552 | RAPSN | c.271C= (p.Arg91=)
| |
11 | g.47448072G>T | CA380334789 | RAPSN | c.271C>A (p.Arg91Ser)
| |
11 | g.47448073T>A | CA474430507 | RAPSN | c.270A>T (p.Ala90=)
| |
11 | g.47448073T>C | CA474430506 | RAPSN | c.270A>G (p.Ala90=)
| |
11 | g.47448073T>G | CA474430504 | RAPSN | c.270A>C (p.Ala90=)
| |
11 | g.47448074G>A | CA380334793 | RAPSN | c.269C>T (p.Ala90Val)
| |
11 | g.47448074G>C | CA380334796 | RAPSN | c.269C>G (p.Ala90Gly)
| |
11 | g.47448074G>T | CA380334801 | RAPSN | c.269C>A (p.Ala90Glu)
| |
11 | g.47448075C>A | CA380334807 | RAPSN | c.268G>T (p.Ala90Ser)
| |
11 | g.47448075C= | CA1969378556 | RAPSN | c.268G= (p.Ala90=)
| |
11 | g.47448075C>G | CA380334810 | RAPSN | c.268G>C (p.Ala90Pro)
| |
11 | g.47448075C>T | CA5976770 | RAPSN | c.268G>A (p.Ala90Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47448076C>A | CA474430509 | RAPSN | c.267G>T (p.Leu89=)
| |
11 | g.47448076C>G | CA474430510 | RAPSN | c.267G>C (p.Leu89=)
| |
11 | g.47448076C>T | CA474430512 | RAPSN | c.267G>A (p.Leu89=)
| |
11 | g.47448077A>C | CA380334818 | RAPSN | c.266T>G (p.Leu89Arg)
| |
11 | g.47448077A>G | CA380334824 | RAPSN | c.266T>C (p.Leu89Pro)
| |
11 | g.47448077A>T | CA380334827 | RAPSN | c.266T>A (p.Leu89Gln)
| |
11 | g.47448077_47448078del | CA2613408144 | RAPSN | c.265_266del (p.Leu89GlyfsTer?)
| gnomAD v4 |
11 | g.47448078G>A | CA474430513 | RAPSN | c.265C>T (p.Leu89=)
| ClinVar |
11 | g.47448078G>C | CA5976771 | RAPSN | c.265C>G (p.Leu89Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47448078G= | CA1969378560 | RAPSN | c.265C= (p.Leu89=)
| |
11 | g.47448078G>T | CA380334832 | RAPSN | c.265C>A (p.Leu89Met)
| gnomAD v4 |
11 | g.47448079G>A | CA474430514 | RAPSN | c.264C>T (p.Asn88=)
| |
11 | g.47448079G>C | CA380334837 | RAPSN | c.264C>G (p.Asn88Lys)
| |
11 | g.47448079G= | CA1969378565 | RAPSN | c.264C= (p.Asn88=)
| |
11 | g.47448079G>T | CA199511 | RAPSN | c.264C>A (p.Asn88Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47448080T>A | CA380334845 | RAPSN | c.263A>T (p.Asn88Ile)
| |
11 | g.47448080T>C | CA380334850 | RAPSN | c.263A>G (p.Asn88Ser)
| dbSNP |
11 | g.47448080T>G | CA380334851 | RAPSN | c.263A>C (p.Asn88Thr)
| |
11 | g.47448080T= | CA1969378570 | RAPSN | c.263A= (p.Asn88=)
| |
11 | g.47448081T>A | CA380334854 | RAPSN | c.262A>T (p.Asn88Tyr)
| |
11 | g.47448081T>C | CA380334855 | RAPSN | c.262A>G (p.Asn88Asp)
| |
11 | g.47448081T>G | CA380334857 | RAPSN | c.262A>C (p.Asn88His)
| |
11 | g.47448082C>A | CA474430520 | RAPSN | c.261G>T (p.Leu87=)
| |
11 | g.47448082C>G | CA474430519 | RAPSN | c.261G>C (p.Leu87=)
| |
11 | g.47448082C>T | CA474430518 | RAPSN | c.261G>A (p.Leu87=)
| |
11 | g.47448083A= | CA1969378574 | RAPSN | c.260T= (p.Leu87=)
| |
11 | g.47448083A>C | CA380334862 | RAPSN | c.260T>G (p.Leu87Arg)
| |
11 | g.47448083A>G | CA380334869 | RAPSN | c.260T>C (p.Leu87Pro)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.47448083A>T | CA380334872 | RAPSN | c.260T>A (p.Leu87Gln)
| |
11 | g.47448084G>A | CA5976772 | RAPSN | c.259C>T (p.Leu87=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47448084G>C | CA380334874 | RAPSN | c.259C>G (p.Leu87Val)
| gnomAD v4 |
11 | g.47448084G= | CA1969378576 | RAPSN | c.259C= (p.Leu87=)
| |
11 | g.47448084G>T | CA380334875 | RAPSN | c.259C>A (p.Leu87Met)
| |
11 | g.47448085G>A | CA474430522 | RAPSN | c.258C>T (p.Tyr86=)
| ClinVar COSMIC |
11 | g.47448085G>C | CA380334876 | RAPSN | c.258C>G (p.Tyr86Ter)
| |
11 | g.47448085G>T | CA380334877 | RAPSN | c.258C>A (p.Tyr86Ter)
| |
11 | g.47448086T>A | CA380334881 | RAPSN | c.257A>T (p.Tyr86Phe)
| |
11 | g.47448086T>C | CA380334883 | RAPSN | c.257A>G (p.Tyr86Cys)
| |
11 | g.47448086T>G | CA380334887 | RAPSN | c.257A>C (p.Tyr86Ser)
| |
11 | g.47448087A= | CA1969378583 | RAPSN | c.256T= (p.Tyr86=)
| |
11 | g.47448087A>C | CA380334889 | RAPSN | c.256T>G (p.Tyr86Asp)
| |
11 | g.47448087A>G | CA5976773 | RAPSN | c.256T>C (p.Tyr86His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47448087A>T | CA380334898 | RAPSN | c.256T>A (p.Tyr86Asn)
| |
11 | g.47448088G>A | CA474430524 | RAPSN | c.255C>T (p.Ser85=)
| |
11 | g.47448088G>C | CA380334900 | RAPSN | c.255C>G (p.Ser85Arg)
| |
11 | g.47448088G>T | CA380334904 | RAPSN | c.255C>A (p.Ser85Arg)
| |
11 | g.47448089C>A | CA380334907 | RAPSN | c.254G>T (p.Ser85Ile)
| |
11 | g.47448089C= | CA1969378588 | RAPSN | c.254G= (p.Ser85=)
| |
11 | g.47448089C>G | CA380334909 | RAPSN | c.254G>C (p.Ser85Thr)
| dbSNP |
11 | g.47448089C>T | CA380334916 | RAPSN | c.254G>A (p.Ser85Asn)
| |
11 | g.47448090T>A | CA380334920 | RAPSN | c.253A>T (p.Ser85Cys)
| |
11 | g.47448090T>C | CA380334922 | RAPSN | c.253A>G (p.Ser85Gly)
| |
11 | g.47448090T>G | CA380334933 | RAPSN | c.253A>C (p.Ser85Arg)
| |
11 | g.47448091C>A | CA380334935 | RAPSN | c.252G>T (p.Glu84Asp)
| |
11 | g.47448091C>G | CA380334937 | RAPSN | c.252G>C (p.Glu84Asp)
| |
11 | g.47448091C>T | CA474430526 | RAPSN | c.252G>A (p.Glu84=)
| |
11 | g.47448092T>A | CA380334939 | RAPSN | c.251A>T (p.Glu84Val)
| |
11 | g.47448092T>C | CA380334941 | RAPSN | c.251A>G (p.Glu84Gly)
| |
11 | g.47448092T>G | CA380334945 | RAPSN | c.251A>C (p.Glu84Ala)
| ClinVar dbSNP gnomAD v4 |
11 | g.47448093C>A | CA380334957 | RAPSN | c.250G>T (p.Glu84Ter)
| |
11 | g.47448093C= | CA1969378591 | RAPSN | c.250G= (p.Glu84=)
| |
11 | g.47448093C>G | CA380334958 | RAPSN | c.250G>C (p.Glu84Gln)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.47448093C>T | CA380334959 | RAPSN | c.250G>A (p.Glu84Lys)
| dbSNP gnomAD v4 |