| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.156344503_156344522del | CA2695198785 | SGCD | c.18_37del (p.Gln6HisfsTer?) c.15_34del (p.Gln5HisfsTer?) n.254+2937_254+2956del | ClinVar |
| 5 | g.156344500G>A | CA3530470 | SGCD | c.15G>A (p.Glu5=) c.12G>A (p.Glu4=) n.254+2953C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344500G>C | CA308779 | SGCD | c.15G>C (p.Glu5Asp) c.12G>C (p.Glu4Asp) n.254+2953C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344500G= | CA1593661148 | SGCD | c.15G= (p.Glu5=) c.12G= (p.Glu4=) n.254+2953C= | |
| 5 | g.156344500G>T | CA362007517 | SGCD | c.15G>T (p.Glu5Asp) c.12G>T (p.Glu4Asp) n.254+2953C>A | |
| 5 | g.156344500_156344501insA | CA645557511 | SGCD | c.15_16insA (p.Gln6ThrfsTer?) c.12_13insA (p.Gln5ThrfsTer?) n.254+2952_254+2953insT | COSMIC COSMIC |
| 5 | g.156344501C>A | CA362007520 | SGCD | c.16C>A (p.Gln6Lys) c.13C>A (p.Gln5Lys) n.254+2952G>T | gnomAD v4 COSMIC COSMIC |
| 5 | g.156344501C>G | CA362007519 | SGCD | c.16C>G (p.Gln6Glu) c.13C>G (p.Gln5Glu) n.254+2952G>C | |
| 5 | g.156344501C>T | CA362007518 | SGCD | c.16C>T (p.Gln6Ter) c.13C>T (p.Gln5Ter) n.254+2952G>A | |
| 5 | g.156344502A= | CA1593661149 | SGCD | c.17A= (p.Gln6=) c.14A= (p.Gln5=) n.254+2951T= | |
| 5 | g.156344502A>C | CA362007521 | SGCD | c.17A>C (p.Gln6Pro) c.14A>C (p.Gln5Pro) n.254+2951T>G | gnomAD v4 |
| 5 | g.156344502A>G | CA362007522 | SGCD | c.17A>G (p.Gln6Arg) c.14A>G (p.Gln5Arg) n.254+2951T>C | dbSNP gnomAD v4 |
| 5 | g.156344502A>T | CA362007523 | SGCD | c.17A>T (p.Gln6Leu) c.14A>T (p.Gln5Leu) n.254+2951T>A | |
| 5 | g.156344503G>A | CA447387353 | SGCD | c.18G>A (p.Gln6=) c.15G>A (p.Gln5=) n.254+2950C>T | |
| 5 | g.156344503G>C | CA362007524 | SGCD | c.18G>C (p.Gln6His) c.15G>C (p.Gln5His) n.254+2950C>G | |
| 5 | g.156344503G>T | CA362007525 | SGCD | c.18G>T (p.Gln6His) c.15G>T (p.Gln5His) n.254+2950C>A | |
| 5 | g.156344504T>A | CA362007526 | SGCD | c.19T>A (p.Tyr7Asn) c.16T>A (p.Tyr6Asn) n.254+2949A>T | |
| 5 | g.156344504T>C | CA362007527 | SGCD | c.19T>C (p.Tyr7His) c.16T>C (p.Tyr6His) n.254+2949A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344504T>G | CA362007528 | SGCD | c.19T>G (p.Tyr7Asp) c.16T>G (p.Tyr6Asp) n.254+2949A>C | |
| 5 | g.156344504T= | CA1593661150 | SGCD | c.19T= (p.Tyr7=) c.16T= (p.Tyr6=) n.254+2949A= | |
| 5 | g.156344505A= | CA1593661151 | SGCD | c.20A= (p.Tyr7=) c.17A= (p.Tyr6=) n.254+2948T= | |
| 5 | g.156344505A>C | CA362007529 | SGCD | c.20A>C (p.Tyr7Ser) c.17A>C (p.Tyr6Ser) n.254+2948T>G | |
| 5 | g.156344505A>G | CA362007530 | SGCD | c.20A>G (p.Tyr7Cys) c.17A>G (p.Tyr6Cys) n.254+2948T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344505A>T | CA362007531 | SGCD | c.20A>T (p.Tyr7Phe) c.17A>T (p.Tyr6Phe) n.254+2948T>A | |
| 5 | g.156344506C>A | CA362007532 | SGCD | c.21C>A (p.Tyr7Ter) c.18C>A (p.Tyr6Ter) n.254+2947G>T | |
| 5 | g.156344506C= | CA1593661152 | SGCD | c.21C= (p.Tyr7=) c.18C= (p.Tyr6=) n.254+2947G= | |
| 5 | g.156344506C>G | CA362007533 | SGCD | c.21C>G (p.Tyr7Ter) c.18C>G (p.Tyr6Ter) n.254+2947G>C | |
| 5 | g.156344506C>T | CA447387354 | SGCD | c.21C>T (p.Tyr7=) c.18C>T (p.Tyr6=) n.254+2947G>A | dbSNP |
| 5 | g.156344507A= | CA1593661153 | SGCD | c.22A= (p.Thr8=) c.19A= (p.Thr7=) n.254+2946T= | |
| 5 | g.156344507A>C | CA362007534 | SGCD | c.22A>C (p.Thr8Pro) c.19A>C (p.Thr7Pro) n.254+2946T>G | |
| 5 | g.156344507A>G | CA362007536 | SGCD | c.22A>G (p.Thr8Ala) c.19A>G (p.Thr7Ala) n.254+2946T>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344507A>T | CA362007535 | SGCD | c.22A>T (p.Thr8Ser) c.19A>T (p.Thr7Ser) n.254+2946T>A | gnomAD v4 |
| 5 | g.156344508C>A | CA362007537 | SGCD | c.23C>A (p.Thr8Asn) c.20C>A (p.Thr7Asn) n.254+2945G>T | |
| 5 | g.156344508C>G | CA362007539 | SGCD | c.23C>G (p.Thr8Ser) c.20C>G (p.Thr7Ser) n.254+2945G>C | |
| 5 | g.156344508C>T | CA362007538 | SGCD | c.23C>T (p.Thr8Ile) c.20C>T (p.Thr7Ile) n.254+2945G>A | |
| 5 | g.156344509T>A | CA447387355 | SGCD | c.24T>A (p.Thr8=) c.21T>A (p.Thr7=) n.254+2944A>T | |
| 5 | g.156344509T>C | CA447387356 | SGCD | c.24T>C (p.Thr8=) c.21T>C (p.Thr7=) n.254+2944A>G | gnomAD v4 |
| 5 | g.156344509T>G | CA447387357 | SGCD | c.24T>G (p.Thr8=) c.21T>G (p.Thr7=) n.254+2944A>C | |
| 5 | g.156344510C>A | CA362007540 | SGCD | c.25C>A (p.His9Asn) c.22C>A (p.His8Asn) n.254+2943G>T | |
| 5 | g.156344510C= | CA1593661154 | SGCD | c.25C= (p.His9=) c.22C= (p.His8=) n.254+2943G= | |
| 5 | g.156344510C>G | CA362007541 | SGCD | c.25C>G (p.His9Asp) c.22C>G (p.His8Asp) n.254+2943G>C | |
| 5 | g.156344510C>T | CA362007542 | SGCD | c.25C>T (p.His9Tyr) c.22C>T (p.His8Tyr) n.254+2943G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344511A>C | CA362007543 | SGCD | c.26A>C (p.His9Pro) c.23A>C (p.His8Pro) n.254+2942T>G | |
| 5 | g.156344511A>G | CA362007544 | SGCD | c.26A>G (p.His9Arg) c.23A>G (p.His8Arg) n.254+2942T>C | |
| 5 | g.156344511A>T | CA362007545 | SGCD | c.26A>T (p.His9Leu) c.23A>T (p.His8Leu) n.254+2942T>A | |
| 5 | g.156344512C>A | CA362007546 | SGCD | c.27C>A (p.His9Gln) c.24C>A (p.His8Gln) n.254+2941G>T | |
| 5 | g.156344512C>G | CA362007547 | SGCD | c.27C>G (p.His9Gln) c.24C>G (p.His8Gln) n.254+2941G>C | |
| 5 | g.156344512C>T | CA447387358 | SGCD | c.27C>T (p.His9=) c.24C>T (p.His8=) n.254+2941G>A | |
| 5 | g.156344513C>A | CA362007550 | SGCD | c.28C>A (p.His10Asn) c.25C>A (p.His9Asn) n.254+2940G>T | |
| 5 | g.156344513C>G | CA362007548 | SGCD | c.28C>G (p.His10Asp) c.25C>G (p.His9Asp) n.254+2940G>C | |
| 5 | g.156344513C>T | CA362007549 | SGCD | c.28C>T (p.His10Tyr) c.25C>T (p.His9Tyr) n.254+2940G>A | ClinVar dbSNP |
| 5 | g.156344514A>C | CA362007551 | SGCD | c.29A>C (p.His10Pro) c.26A>C (p.His9Pro) n.254+2939T>G | |
| 5 | g.156344514A>G | CA362007552 | SGCD | c.29A>G (p.His10Arg) c.26A>G (p.His9Arg) n.254+2939T>C | gnomAD v4 |
| 5 | g.156344514A>T | CA362007553 | SGCD | c.29A>T (p.His10Leu) c.26A>T (p.His9Leu) n.254+2939T>A | |
| 5 | g.156344515C>A | CA362007554 | SGCD | c.30C>A (p.His10Gln) c.27C>A (p.His9Gln) n.254+2938G>T | |
| 5 | g.156344515C>G | CA362007555 | SGCD | c.30C>G (p.His10Gln) c.27C>G (p.His9Gln) n.254+2938G>C | gnomAD v4 |
| 5 | g.156344515C>T | CA447387359 | SGCD | c.30C>T (p.His10=) c.27C>T (p.His9=) n.254+2938G>A | |
| 5 | g.156344516C>A | CA447387360 | SGCD | c.31C>A (p.Arg11=) c.28C>A (p.Arg10=) n.254+2937G>T | |
| 5 | g.156344516C= | CA1593661155 | SGCD | c.31C= (p.Arg11=) c.28C= (p.Arg10=) n.254+2937G= | |
| 5 | g.156344516C>G | CA362007556 | SGCD | c.31C>G (p.Arg11Gly) c.28C>G (p.Arg10Gly) n.254+2937G>C | ClinVar |
| 5 | g.156344516C>T | CA3530471 | SGCD | c.31C>T (p.Arg11Trp) c.28C>T (p.Arg10Trp) n.254+2937G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344517G>A | CA302929 | SGCD | c.32G>A (p.Arg11Gln) c.29G>A (p.Arg10Gln) n.254+2936C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344517G>C | CA362007558 | SGCD | c.32G>C (p.Arg11Pro) c.29G>C (p.Arg10Pro) n.254+2936C>G | |
| 5 | g.156344517G= | CA1593661156 | SGCD | c.32G= (p.Arg11=) c.29G= (p.Arg10=) n.254+2936C= | |
| 5 | g.156344517G>T | CA362007557 | SGCD | c.32G>T (p.Arg11Leu) c.29G>T (p.Arg10Leu) n.254+2936C>A | |
| 5 | g.156344518G>A | CA3530472 | SGCD | c.33G>A (p.Arg11=) c.30G>A (p.Arg10=) n.254+2935C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344518G>C | CA447387361 | SGCD | c.33G>C (p.Arg11=) c.30G>C (p.Arg10=) n.254+2935C>G | |
| 5 | g.156344518G= | CA1593661157 | SGCD | c.33G= (p.Arg11=) c.30G= (p.Arg10=) n.254+2935C= | |
| 5 | g.156344518G>T | CA447387362 | SGCD | c.33G>T (p.Arg11=) c.30G>T (p.Arg10=) n.254+2935C>A | |
| 5 | g.156344519A= | CA1593661158 | SGCD | c.34A= (p.Ser12=) c.31A= (p.Ser11=) n.254+2934T= | |
| 5 | g.156344519A>C | CA362007559 | SGCD | c.34A>C (p.Ser12Arg) c.31A>C (p.Ser11Arg) n.254+2934T>G | |
| 5 | g.156344519A>G | CA3530473 | SGCD | c.34A>G (p.Ser12Gly) c.31A>G (p.Ser11Gly) n.254+2934T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344519A>T | CA362007560 | SGCD | c.34A>T (p.Ser12Cys) c.31A>T (p.Ser11Cys) n.254+2934T>A | |
| 5 | g.156344520G>A | CA362007561 | SGCD | c.35G>A (p.Ser12Asn) c.32G>A (p.Ser11Asn) n.254+2933C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344520G>C | CA362007562 | SGCD | c.35G>C (p.Ser12Thr) c.32G>C (p.Ser11Thr) n.254+2933C>G | gnomAD v4 |
| 5 | g.156344520G= | CA1593661159 | SGCD | c.35G= (p.Ser12=) c.32G= (p.Ser11=) n.254+2933C= | |
| 5 | g.156344520G>T | CA362007563 | SGCD | c.35G>T (p.Ser12Ile) c.32G>T (p.Ser11Ile) n.254+2933C>A | |
| 5 | g.156344521C>A | CA362007564 | SGCD | c.36C>A (p.Ser12Arg) c.33C>A (p.Ser11Arg) n.254+2932G>T | gnomAD v4 |
| 5 | g.156344521C>G | CA362007565 | SGCD | c.36C>G (p.Ser12Arg) c.33C>G (p.Ser11Arg) n.254+2932G>C | |
| 5 | g.156344521C>T | CA447387363 | SGCD | c.36C>T (p.Ser12=) c.33C>T (p.Ser11=) n.254+2932G>A | |
| 5 | g.156344522A= | CA1593661160 | SGCD | c.37A= (p.Thr13=) c.34A= (p.Thr12=) n.254+2931T= | |
| 5 | g.156344522A>C | CA362007568 | SGCD | c.37A>C (p.Thr13Pro) c.34A>C (p.Thr12Pro) n.254+2931T>G | |
| 5 | g.156344522A>G | CA362007566 | SGCD | c.37A>G (p.Thr13Ala) c.34A>G (p.Thr12Ala) n.254+2931T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344522A>T | CA362007567 | SGCD | c.37A>T (p.Thr13Ser) c.34A>T (p.Thr12Ser) n.254+2931T>A | |
| 5 | g.156344523C>A | CA362007569 | SGCD | c.38C>A (p.Thr13Asn) c.35C>A (p.Thr12Asn) n.254+2930G>T | |
| 5 | g.156344523C= | CA1593661161 | SGCD | c.38C= (p.Thr13=) c.35C= (p.Thr12=) n.254+2930G= | |
| 5 | g.156344523C>G | CA362007570 | SGCD | c.38C>G (p.Thr13Ser) c.35C>G (p.Thr12Ser) n.254+2930G>C | ClinVar dbSNP |
| 5 | g.156344523C>T | CA362007571 | SGCD | c.38C>T (p.Thr13Ile) c.35C>T (p.Thr12Ile) n.254+2930G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344524C>A | CA447387365 | SGCD | c.39C>A (p.Thr13=) c.36C>A (p.Thr12=) n.254+2929G>T | dbSNP gnomAD v4 |
| 5 | g.156344524C= | CA1593661162 | SGCD | c.39C= (p.Thr13=) c.36C= (p.Thr12=) n.254+2929G= | |
| 5 | g.156344524C>G | CA447387366 | SGCD | c.39C>G (p.Thr13=) c.36C>G (p.Thr12=) n.254+2929G>C | dbSNP |
| 5 | g.156344524C>T | CA447387367 | SGCD | c.39C>T (p.Thr13=) c.36C>T (p.Thr12=) n.254+2929G>A | |
| 5 | g.156344525A= | CA1593661163 | SGCD | c.40A= (p.Met14=) c.37A= (p.Met13=) n.254+2928T= | |
| 5 | g.156344525A>C | CA362007572 | SGCD | c.40A>C (p.Met14Leu) c.37A>C (p.Met13Leu) n.254+2928T>G | |
| 5 | g.156344525A>G | CA130594216 | SGCD | c.40A>G (p.Met14Val) c.37A>G (p.Met13Val) n.254+2928T>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.156344525A>T | CA362007573 | SGCD | c.40A>T (p.Met14Leu) c.37A>T (p.Met13Leu) n.254+2928T>A | |
| 5 | g.156344526T>A | CA362007574 | SGCD | c.41T>A (p.Met14Lys) c.38T>A (p.Met13Lys) n.254+2927A>T | |
| 5 | g.156344526T>C | CA362007575 | SGCD | c.41T>C (p.Met14Thr) c.38T>C (p.Met13Thr) n.254+2927A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344526T>G | CA362007576 | SGCD | c.41T>G (p.Met14Arg) c.38T>G (p.Met13Arg) n.254+2927A>C | |
| 5 | g.156344526T= | CA1593661164 | SGCD | c.41T= (p.Met14=) c.38T= (p.Met13=) n.254+2927A= | |
| 5 | g.156344526dup | CA2769040830 | SGCD | c.41dup (p.Met14IlefsTer?) c.38dup (p.Met13IlefsTer?) n.254+2927dup | |
| 5 | g.156344527G>A | CA362007578 | SGCD | c.42G>A (p.Met14Ile) c.39G>A (p.Met13Ile) n.254+2926C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344527G>C | CA362007579 | SGCD | c.42G>C (p.Met14Ile) c.39G>C (p.Met13Ile) n.254+2926C>G | dbSNP gnomAD v4 |
| 5 | g.156344527G= | CA1593661165 | SGCD | c.42G= (p.Met14=) c.39G= (p.Met13=) n.254+2926C= | |
| 5 | g.156344527G>T | CA362007577 | SGCD | c.42G>T (p.Met14Ile) c.39G>T (p.Met13Ile) n.254+2926C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344527_156344529del | CA2518903273 | SGCD | c.42_44del (p.Met14_Pro15delinsIle) c.39_41del (p.Met13_Pro14delinsIle) n.254+2924_254+2926del | |
| 5 | g.156344528C>A | CA362007582 | SGCD | c.43C>A (p.Pro15Thr) c.40C>A (p.Pro14Thr) n.254+2925G>T | |
| 5 | g.156344528C>G | CA362007580 | SGCD | c.43C>G (p.Pro15Ala) c.40C>G (p.Pro14Ala) n.254+2925G>C | |
| 5 | g.156344528C>T | CA362007581 | SGCD | c.43C>T (p.Pro15Ser) c.40C>T (p.Pro14Ser) n.254+2925G>A | |
| 5 | g.156344529C>A | CA362007583 | SGCD | c.44C>A (p.Pro15His) c.41C>A (p.Pro14His) n.254+2924G>T | |
| 5 | g.156344529C= | CA1593661166 | SGCD | c.44C= (p.Pro15=) c.41C= (p.Pro14=) n.254+2924G= | |
| 5 | g.156344529C>G | CA362007584 | SGCD | c.44C>G (p.Pro15Arg) c.41C>G (p.Pro14Arg) n.254+2924G>C | |
| 5 | g.156344529C>T | CA362007585 | SGCD | c.44C>T (p.Pro15Leu) c.41C>T (p.Pro14Leu) n.254+2924G>A | |
| 5 | g.156344530T>A | CA185035 | SGCD | c.45T>A (p.Pro15=) c.42T>A (p.Pro14=) n.254+2923A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344530T>C | CA447387369 | SGCD | c.45T>C (p.Pro15=) c.42T>C (p.Pro14=) n.254+2923A>G | |
| 5 | g.156344530T>G | CA447387370 | SGCD | c.45T>G (p.Pro15=) c.42T>G (p.Pro14=) n.254+2923A>C | |
| 5 | g.156344530T= | CA1593661167 | SGCD | c.45T= (p.Pro15=) c.42T= (p.Pro14=) n.254+2923A= | |
| 5 | g.156344530dup | CA1593661168 | SGCD | c.45dup (p.Gly16TrpfsTer?) c.42dup (p.Gly15TrpfsTer?) n.254+2923dup | dbSNP |
| 5 | g.156344531G>A | CA362007586 | SGCD | c.46G>A (p.Gly16Ser) c.43G>A (p.Gly15Ser) n.254+2922C>T | |
| 5 | g.156344531G>C | CA362007587 | SGCD | c.46G>C (p.Gly16Arg) c.43G>C (p.Gly15Arg) n.254+2922C>G | |
| 5 | g.156344531G>T | CA362007588 | SGCD | c.46G>T (p.Gly16Cys) c.43G>T (p.Gly15Cys) n.254+2922C>A | |
| 5 | g.156344532G>A | CA362007591 | SGCD | c.47G>A (p.Gly16Asp) c.44G>A (p.Gly15Asp) n.254+2921C>T | ClinVar |
| 5 | g.156344532G>C | CA362007589 | SGCD | c.47G>C (p.Gly16Ala) c.44G>C (p.Gly15Ala) n.254+2921C>G | |
| 5 | g.156344532G>T | CA362007590 | SGCD | c.47G>T (p.Gly16Val) c.44G>T (p.Gly15Val) n.254+2921C>A | gnomAD v4 |
| 5 | g.156344532_156344533del | CA2559204249 | SGCD | c.47_48del (p.Gly16ValfsTer?) c.44_45del (p.Gly15ValfsTer?) n.254+2920_254+2921del | |
| 5 | g.156344532_156344534delinsGCT | CA1593661169 | SGCD | c.47_49delinsGCT (p.Gly16=) c.44_46delinsGCT (p.Gly15=) n.254+2919_254+2921delinsAGC | |
| 5 | g.156344533C>A | CA447387371 | SGCD | c.48C>A (p.Gly16=) c.45C>A (p.Gly15=) n.254+2920G>T | |
| 5 | g.156344533C>G | CA447387373 | SGCD | c.48C>G (p.Gly16=) c.45C>G (p.Gly15=) n.254+2920G>C | |
| 5 | g.156344533C>T | CA447387372 | SGCD | c.48C>T (p.Gly16=) c.45C>T (p.Gly15=) n.254+2920G>A | ClinVar |
| 5 | g.156344535_156344536del | CA563961407 | SGCD | c.50_51del (p.Ser17CysfsTer?) c.47_48del (p.Ser16CysfsTer?) n.254+2919_254+2920del | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344534T>A | CA362007592 | SGCD | c.49T>A (p.Ser17Thr) c.46T>A (p.Ser16Thr) n.254+2919A>T | |
| 5 | g.156344534T>C | CA362007593 | SGCD | c.49T>C (p.Ser17Pro) c.46T>C (p.Ser16Pro) n.254+2919A>G | |
| 5 | g.156344534T>G | CA362007594 | SGCD | c.49T>G (p.Ser17Ala) c.46T>G (p.Ser16Ala) n.254+2919A>C | |
| 5 | g.156344534_156344535insATAC | CA2567462074 | SGCD | c.49_50insATAC (p.Ser17TyrfsTer?) c.46_47insATAC (p.Ser16TyrfsTer?) n.254+2918_254+2919insGTAT | |
| 5 | g.156344535C>A | CA362007595 | SGCD | c.50C>A (p.Ser17Tyr) c.47C>A (p.Ser16Tyr) n.254+2918G>T | |
| 5 | g.156344535C>G | CA362007596 | SGCD | c.50C>G (p.Ser17Cys) c.47C>G (p.Ser16Cys) n.254+2918G>C | gnomAD v4 |
| 5 | g.156344535C>T | CA362007597 | SGCD | c.50C>T (p.Ser17Phe) c.47C>T (p.Ser16Phe) n.254+2918G>A | COSMIC COSMIC |
| 5 | g.156344536T>A | CA447387374 | SGCD | c.51T>A (p.Ser17=) c.48T>A (p.Ser16=) n.254+2917A>T | |
| 5 | g.156344536T>C | CA447387375 | SGCD | c.51T>C (p.Ser17=) c.48T>C (p.Ser16=) n.254+2917A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344536T>G | CA447387376 | SGCD | c.51T>G (p.Ser17=) c.48T>G (p.Ser16=) n.254+2917A>C | |
| 5 | g.156344537G>A | CA362007598 | SGCD | c.52G>A (p.Val18Met) c.49G>A (p.Val17Met) n.254+2916C>T | |
| 5 | g.156344537G>C | CA362007599 | SGCD | c.52G>C (p.Val18Leu) c.49G>C (p.Val17Leu) n.254+2916C>G | |
| 5 | g.156344537G>T | CA362007600 | SGCD | c.52G>T (p.Val18Leu) c.49G>T (p.Val17Leu) n.254+2916C>A | COSMIC COSMIC |
| 5 | g.156344538T>A | CA362007602 | SGCD | c.53T>A (p.Val18Glu) c.50T>A (p.Val17Glu) n.254+2915A>T | gnomAD v4 |
| 5 | g.156344538T>C | CA362007603 | SGCD | c.53T>C (p.Val18Ala) c.50T>C (p.Val17Ala) n.254+2915A>G | |
| 5 | g.156344538T>G | CA362007601 | SGCD | c.53T>G (p.Val18Gly) c.50T>G (p.Val17Gly) n.254+2915A>C | gnomAD v4 |
| 5 | g.156344539G>A | CA3530474 | SGCD | c.54G>A (p.Val18=) c.51G>A (p.Val17=) n.254+2914C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344539G>C | CA447387377 | SGCD | c.54G>C (p.Val18=) c.51G>C (p.Val17=) n.254+2914C>G | |
| 5 | g.156344539G= | CA1593661170 | SGCD | c.54G= (p.Val18=) c.51G= (p.Val17=) n.254+2914C= | |
| 5 | g.156344539G>T | CA447387378 | SGCD | c.54G>T (p.Val18=) c.51G>T (p.Val17=) n.254+2914C>A | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.156344542del | CA2676177546 | SGCD | c.57del (p.Pro20HisfsTer24) c.54del (p.Pro19HisfsTer24) n.254+2914del | gnomAD v4 |
| 5 | g.156344540G>A | CA362007604 | SGCD | c.55G>A (p.Gly19Arg) c.52G>A (p.Gly18Arg) n.254+2913C>T | |
| 5 | g.156344540G>C | CA362007605 | SGCD | c.55G>C (p.Gly19Arg) c.52G>C (p.Gly18Arg) n.254+2913C>G | |
| 5 | g.156344540G>T | CA362007606 | SGCD | c.55G>T (p.Gly19Trp) c.52G>T (p.Gly18Trp) n.254+2913C>A | |
| 5 | g.156344541G>A | CA3530475 | SGCD | c.56G>A (p.Gly19Glu) c.53G>A (p.Gly18Glu) n.254+2912C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344541G>C | CA362007607 | SGCD | c.56G>C (p.Gly19Ala) c.53G>C (p.Gly18Ala) n.254+2912C>G | ClinVar |
| 5 | g.156344541G= | CA1593661171 | SGCD | c.56G= (p.Gly19=) c.53G= (p.Gly18=) n.254+2912C= | |
| 5 | g.156344541G>T | CA362007608 | SGCD | c.56G>T (p.Gly19Val) c.53G>T (p.Gly18Val) n.254+2912C>A | |
| 5 | g.156344542G>A | CA447387379 | SGCD | c.57G>A (p.Gly19=) c.54G>A (p.Gly18=) n.254+2911C>T | gnomAD v4 |
| 5 | g.156344542G>C | CA447387380 | SGCD | c.57G>C (p.Gly19=) c.54G>C (p.Gly18=) n.254+2911C>G | |
| 5 | g.156344542G>T | CA447387381 | SGCD | c.57G>T (p.Gly19=) c.54G>T (p.Gly18=) n.254+2911C>A | ClinVar gnomAD v4 |
| 5 | g.156344543C>A | CA362007609 | SGCD | c.58C>A (p.Pro20Thr) c.55C>A (p.Pro19Thr) n.254+2910G>T | |
| 5 | g.156344543C>G | CA362007610 | SGCD | c.58C>G (p.Pro20Ala) c.55C>G (p.Pro19Ala) n.254+2910G>C | |
| 5 | g.156344543C>T | CA362007611 | SGCD | c.58C>T (p.Pro20Ser) c.55C>T (p.Pro19Ser) n.254+2910G>A | |
| 5 | g.156344544C>A | CA362007613 | SGCD | c.59C>A (p.Pro20Gln) c.56C>A (p.Pro19Gln) n.254+2909G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344544C= | CA1593661172 | SGCD | c.59C= (p.Pro20=) c.56C= (p.Pro19=) n.254+2909G= | |
| 5 | g.156344544C>G | CA362007612 | SGCD | c.59C>G (p.Pro20Arg) c.56C>G (p.Pro19Arg) n.254+2909G>C | |
| 5 | g.156344544C>T | CA3530476 | SGCD | c.59C>T (p.Pro20Leu) c.56C>T (p.Pro19Leu) n.254+2909G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.156344545A>C | CA447387382 | SGCD | c.60A>C (p.Pro20=) c.57A>C (p.Pro19=) n.254+2908T>G | |
| 5 | g.156344545A>G | CA447387383 | SGCD | c.60A>G (p.Pro20=) c.57A>G (p.Pro19=) n.254+2908T>C | dbSNP |
| 5 | g.156344545A>T | CA447387384 | SGCD | c.60A>T (p.Pro20=) c.57A>T (p.Pro19=) n.254+2908T>A | |
| 5 | g.156344546C>A | CA3530477 | SGCD | c.61C>A (p.Gln21Lys) c.58C>A (p.Gln20Lys) n.254+2907G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344546C= | CA1593661173 | SGCD | c.61C= (p.Gln21=) c.58C= (p.Gln20=) n.254+2907G= | |
| 5 | g.156344546C>G | CA362007614 | SGCD | c.61C>G (p.Gln21Glu) c.58C>G (p.Gln20Glu) n.254+2907G>C | |
| 5 | g.156344546C>T | CA362007615 | SGCD | c.61C>T (p.Gln21Ter) c.58C>T (p.Gln20Ter) n.254+2907G>A | COSMIC COSMIC |
| 5 | g.156344547A= | CA1593661174 | SGCD | c.62A= (p.Gln21=) c.59A= (p.Gln20=) n.254+2906T= | |
| 5 | g.156344547A>C | CA130594217 | SGCD | c.62A>C (p.Gln21Pro) c.59A>C (p.Gln20Pro) n.254+2906T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344547A>G | CA362007616 | SGCD | c.62A>G (p.Gln21Arg) c.59A>G (p.Gln20Arg) n.254+2906T>C | |
| 5 | g.156344547A>T | CA362007617 | SGCD | c.62A>T (p.Gln21Leu) c.59A>T (p.Gln20Leu) n.254+2906T>A | |
| 5 | g.156344547_156344548delinsAG | CA1593661175 | SGCD | c.62_63delinsAG (p.Gln21=) c.59_60delinsAG (p.Gln20=) n.254+2905_254+2906delinsCT | |
| 5 | g.156344548G>A | CA447387386 | SGCD | c.63G>A (p.Gln21=) c.60G>A (p.Gln20=) n.254+2905C>T | gnomAD v4 |
| 5 | g.156344548G>C | CA362007618 | SGCD | c.63G>C (p.Gln21His) c.60G>C (p.Gln20His) n.254+2905C>G | |
| 5 | g.156344548G>T | CA362007619 | SGCD | c.63G>T (p.Gln21His) c.60G>T (p.Gln20His) n.254+2905C>A | |
| 5 | g.156344549del | CA913108488 | SGCD | c.64del (p.Val22TyrfsTer22) c.61del (p.Val21TyrfsTer22) n.254+2905del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344549G>A | CA362007620 | SGCD | c.64G>A (p.Val22Ile) c.61G>A (p.Val21Ile) n.254+2904C>T | |
| 5 | g.156344549G>C | CA362007621 | SGCD | c.64G>C (p.Val22Leu) c.61G>C (p.Val21Leu) n.254+2904C>G | |
| 5 | g.156344549G= | CA1593661176 | SGCD | c.64G= (p.Val22=) c.61G= (p.Val21=) n.254+2904C= | |
| 5 | g.156344549G>T | CA362007622 | SGCD | c.64G>T (p.Val22Leu) c.61G>T (p.Val21Leu) n.254+2904C>A | gnomAD v4 |
| 5 | g.156344549_156344552del | CA2531384259 | SGCD | c.64_67del (p.Val22ThrfsTer21) c.61_64del (p.Val21ThrfsTer21) n.254+2901_254+2904del | |
| 5 | g.156344550T>A | CA362007623 | SGCD | c.65T>A (p.Val22Glu) c.62T>A (p.Val21Glu) n.254+2903A>T | |
| 5 | g.156344550T>C | CA362007625 | SGCD | c.65T>C (p.Val22Ala) c.62T>C (p.Val21Ala) n.254+2903A>G | dbSNP COSMIC |
| 5 | g.156344550T>G | CA362007624 | SGCD | c.65T>G (p.Val22Gly) c.62T>G (p.Val21Gly) n.254+2903A>C | |
| 5 | g.156344550T= | CA1593661177 | SGCD | c.65T= (p.Val22=) c.62T= (p.Val21=) n.254+2903A= | |
| 5 | g.156344550dup | CA10605018 | SGCD | c.65dup (p.Tyr23IlefsTer?) c.62dup (p.Tyr22IlefsTer?) n.254+2903dup | ClinVar dbSNP |
| 5 | g.156344551A= | CA1593661178 | SGCD | c.66A= (p.Val22=) c.63A= (p.Val21=) n.254+2902T= | |
| 5 | g.156344551A>C | CA447387388 | SGCD | c.66A>C (p.Val22=) c.63A>C (p.Val21=) n.254+2902T>G | |
| 5 | g.156344551A>G | CA447387389 | SGCD | c.66A>G (p.Val22=) c.63A>G (p.Val21=) n.254+2902T>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344551A>T | CA130594218 | SGCD | c.66A>T (p.Val22=) c.63A>T (p.Val21=) n.254+2902T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344552T>A | CA362007626 | SGCD | c.67T>A (p.Tyr23Asn) c.64T>A (p.Tyr22Asn) n.254+2901A>T | gnomAD v4 |
| 5 | g.156344552T>C | CA362007627 | SGCD | c.67T>C (p.Tyr23His) c.64T>C (p.Tyr22His) n.254+2901A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344552T>G | CA362007628 | SGCD | c.67T>G (p.Tyr23Asp) c.64T>G (p.Tyr22Asp) n.254+2901A>C | |
| 5 | g.156344552T= | CA1593661179 | SGCD | c.67T= (p.Tyr23=) c.64T= (p.Tyr22=) n.254+2901A= | |
| 5 | g.156344553A= | CA1593661180 | SGCD | c.68A= (p.Tyr23=) c.65A= (p.Tyr22=) n.254+2900T= | |
| 5 | g.156344553A>C | CA362007629 | SGCD | c.68A>C (p.Tyr23Ser) c.65A>C (p.Tyr22Ser) n.254+2900T>G | |
| 5 | g.156344553A>G | CA3530478 | SGCD | c.68A>G (p.Tyr23Cys) c.65A>G (p.Tyr22Cys) n.254+2900T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344553A>T | CA362007630 | SGCD | c.68A>T (p.Tyr23Phe) c.65A>T (p.Tyr22Phe) n.254+2900T>A | gnomAD v4 |
| 5 | g.156344553_156344554insG | CA2529101945 | SGCD | c.68_69insG (p.Tyr23Ter) c.65_66insG (p.Tyr22Ter) n.254+2899_254+2900insC | |
| 5 | g.156344554C>A | CA362007631 | SGCD | c.69C>A (p.Tyr23Ter) c.66C>A (p.Tyr22Ter) n.254+2899G>T | ClinVar dbSNP |
| 5 | g.156344554C= | CA1593661181 | SGCD | c.69C= (p.Tyr23=) c.66C= (p.Tyr22=) n.254+2899G= | |
| 5 | g.156344554C>G | CA362007632 | SGCD | c.69C>G (p.Tyr23Ter) c.66C>G (p.Tyr22Ter) n.254+2899G>C | gnomAD v4 |
| 5 | g.156344554C>T | CA142638 | SGCD | c.69C>T (p.Tyr23=) c.66C>T (p.Tyr22=) n.254+2899G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344555A>C | CA362007633 | SGCD | c.70A>C (p.Lys24Gln) c.67A>C (p.Lys23Gln) n.254+2898T>G | COSMIC |
| 5 | g.156344555A>G | CA362007634 | SGCD | c.70A>G (p.Lys24Glu) c.67A>G (p.Lys23Glu) n.254+2898T>C | |
| 5 | g.156344555A>T | CA362007635 | SGCD | c.70A>T (p.Lys24Ter) c.67A>T (p.Lys23Ter) n.254+2898T>A | |
| 5 | g.156344556A= | CA1593661182 | SGCD | c.71A= (p.Lys24=) c.68A= (p.Lys23=) n.254+2897T= | |
| 5 | g.156344556A>C | CA362007638 | SGCD | c.71A>C (p.Lys24Thr) c.68A>C (p.Lys23Thr) n.254+2897T>G | |
| 5 | g.156344556A>G | CA362007636 | SGCD | c.71A>G (p.Lys24Arg) c.68A>G (p.Lys23Arg) n.254+2897T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344556A>T | CA362007637 | SGCD | c.71A>T (p.Lys24Met) c.68A>T (p.Lys23Met) n.254+2897T>A | |
| 5 | g.156344557G>A | CA447387390 | SGCD | c.72G>A (p.Lys24=) c.69G>A (p.Lys23=) n.254+2896C>T | |
| 5 | g.156344557G>C | CA362007639 | SGCD | c.72G>C (p.Lys24Asn) c.69G>C (p.Lys23Asn) n.254+2896C>G | |
| 5 | g.156344557G>T | CA362007640 | SGCD | c.72G>T (p.Lys24Asn) c.69G>T (p.Lys23Asn) n.254+2896C>A | |
| 5 | g.156344559_156344562dup | CA16611801 | SGCD | c.74_77dup (p.Ile27GlyfsTer?) c.71_74dup (p.Ile26GlyfsTer?) n.254+2893_254+2896dup | ClinVar dbSNP |
| 5 | g.156344559_156344563del | CA2676177547 | SGCD | c.74_78del (p.Val25AspfsTer?) c.71_75del (p.Val24AspfsTer?) n.254+2892_254+2896del | gnomAD v4 |
| 5 | g.156344558G>A | CA362007641 | SGCD | c.73G>A (p.Val25Met) c.70G>A (p.Val24Met) n.254+2895C>T | gnomAD v4 |
| 5 | g.156344558G>C | CA362007642 | SGCD | c.73G>C (p.Val25Leu) c.70G>C (p.Val24Leu) n.254+2895C>G | dbSNP |
| 5 | g.156344558G= | CA1593661183 | SGCD | c.73G= (p.Val25=) c.70G= (p.Val24=) n.254+2895C= | |
| 5 | g.156344558G>T | CA362007643 | SGCD | c.73G>T (p.Val25Leu) c.70G>T (p.Val24Leu) n.254+2895C>A | |
| 5 | g.156344558_156344559insCA | CA2522233116 | SGCD | c.73_74insCA (p.Val25AlafsTer20) c.70_71insCA (p.Val24AlafsTer20) n.254+2894_254+2895insTG | |
| 5 | g.156344559T>A | CA362007644 | SGCD | c.74T>A (p.Val25Glu) c.71T>A (p.Val24Glu) n.254+2894A>T | |
| 5 | g.156344559T>C | CA362007645 | SGCD | c.74T>C (p.Val25Ala) c.71T>C (p.Val24Ala) n.254+2894A>G | |
| 5 | g.156344559T>G | CA362007646 | SGCD | c.74T>G (p.Val25Gly) c.71T>G (p.Val24Gly) n.254+2894A>C | dbSNP |
| 5 | g.156344559T= | CA1593661184 | SGCD | c.74T= (p.Val25=) c.71T= (p.Val24=) n.254+2894A= | |
| 5 | g.156344560G>A | CA447387391 | SGCD | c.75G>A (p.Val25=) c.72G>A (p.Val24=) n.254+2893C>T | gnomAD v4 |
| 5 | g.156344560G>C | CA447387392 | SGCD | c.75G>C (p.Val25=) c.72G>C (p.Val24=) n.254+2893C>G | |
| 5 | g.156344560G>T | CA447387393 | SGCD | c.75G>T (p.Val25=) c.72G>T (p.Val24=) n.254+2893C>A | |
| 5 | g.156344561G>A | CA3530479 | SGCD | c.76G>A (p.Gly26Arg) c.73G>A (p.Gly25Arg) n.254+2892C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344561G>C | CA362007647 | SGCD | c.76G>C (p.Gly26Arg) c.73G>C (p.Gly25Arg) n.254+2892C>G | dbSNP |
| 5 | g.156344561G= | CA1593661185 | SGCD | c.76G= (p.Gly26=) c.73G= (p.Gly25=) n.254+2892C= | |
| 5 | g.156344561G>T | CA362007648 | SGCD | c.76G>T (p.Gly26Trp) c.73G>T (p.Gly25Trp) n.254+2892C>A | |
| 5 | g.156344562G>A | CA3530480 | SGCD | c.77G>A (p.Gly26Glu) c.74G>A (p.Gly25Glu) n.254+2891C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344562G>C | CA362007650 | SGCD | c.77G>C (p.Gly26Ala) c.74G>C (p.Gly25Ala) n.254+2891C>G | |
| 5 | g.156344562G= | CA1593661186 | SGCD | c.77G= (p.Gly26=) c.74G= (p.Gly25=) n.254+2891C= | |
| 5 | g.156344562G>T | CA362007649 | SGCD | c.77G>T (p.Gly26Val) c.74G>T (p.Gly25Val) n.254+2891C>A | |
| 5 | g.156344562_156344564del | CA2538407895 | SGCD | c.77_79del (p.Gly26_Ile27delinsVal) c.74_76del (p.Gly25_Ile26delinsVal) n.254+2889_254+2891del | |
| 5 | g.156344563G>A | CA447387394 | SGCD | c.78G>A (p.Gly26=) c.75G>A (p.Gly25=) n.254+2890C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344563G>C | CA447387395 | SGCD | c.78G>C (p.Gly26=) c.75G>C (p.Gly25=) n.254+2890C>G | |
| 5 | g.156344563G= | CA1593661187 | SGCD | c.78G= (p.Gly26=) c.75G= (p.Gly25=) n.254+2890C= | |
| 5 | g.156344563G>T | CA447387396 | SGCD | c.78G>T (p.Gly26=) c.75G>T (p.Gly25=) n.254+2890C>A | |
| 5 | g.156344564A= | CA1593661188 | SGCD | c.79A= (p.Ile27=) c.76A= (p.Ile26=) n.254+2889T= | |
| 5 | g.156344564A>C | CA362007651 | SGCD | c.79A>C (p.Ile27Leu) c.76A>C (p.Ile26Leu) n.254+2889T>G | |
| 5 | g.156344564A>G | CA3530481 | SGCD | c.79A>G (p.Ile27Val) c.76A>G (p.Ile26Val) n.254+2889T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344564A>T | CA362007652 | SGCD | c.79A>T (p.Ile27Phe) c.76A>T (p.Ile26Phe) n.254+2889T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344565T>A | CA362007653 | SGCD | c.80T>A (p.Ile27Asn) c.77T>A (p.Ile26Asn) n.254+2888A>T | |
| 5 | g.156344565T>C | CA362007654 | SGCD | c.80T>C (p.Ile27Thr) c.77T>C (p.Ile26Thr) n.254+2888A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344565T>G | CA362007655 | SGCD | c.80T>G (p.Ile27Ser) c.77T>G (p.Ile26Ser) n.254+2888A>C | |
| 5 | g.156344565T= | CA1593661189 | SGCD | c.80T= (p.Ile27=) c.77T= (p.Ile26=) n.254+2888A= | |
| 5 | g.156344566T>A | CA447387398 | SGCD | c.81T>A (p.Ile27=) c.78T>A (p.Ile26=) n.254+2887A>T | |
| 5 | g.156344566T>C | CA447387397 | SGCD | c.81T>C (p.Ile27=) c.78T>C (p.Ile26=) n.254+2887A>G | |
| 5 | g.156344566T>G | CA362007656 | SGCD | c.81T>G (p.Ile27Met) c.78T>G (p.Ile26Met) n.254+2887A>C | |
| 5 | g.156344566_156344570del | CA2522454571 | SGCD | c.81_85del (p.Ile27MetfsTer?) c.78_82del (p.Ile26MetfsTer?) n.254+2883_254+2887del | |
| 5 | g.156344567T>A | CA362007657 | SGCD | c.82T>A (p.Tyr28Asn) c.79T>A (p.Tyr27Asn) n.254+2886A>T | |
| 5 | g.156344567T>C | CA362007658 | SGCD | c.82T>C (p.Tyr28His) c.79T>C (p.Tyr27His) n.254+2886A>G | |
| 5 | g.156344567T>G | CA362007659 | SGCD | c.82T>G (p.Tyr28Asp) c.79T>G (p.Tyr27Asp) n.254+2886A>C | |
| 5 | g.156344568A>C | CA362007662 | SGCD | c.83A>C (p.Tyr28Ser) c.80A>C (p.Tyr27Ser) n.254+2885T>G | |
| 5 | g.156344568A>G | CA362007661 | SGCD | c.83A>G (p.Tyr28Cys) c.80A>G (p.Tyr27Cys) n.254+2885T>C | |
| 5 | g.156344568A>T | CA362007660 | SGCD | c.83A>T (p.Tyr28Phe) c.80A>T (p.Tyr27Phe) n.254+2885T>A | |
| 5 | g.156344569T>A | CA362007663 | SGCD | c.84T>A (p.Tyr28Ter) c.81T>A (p.Tyr27Ter) n.254+2884A>T | gnomAD v4 |
| 5 | g.156344569T>C | CA284623 | SGCD | c.84T>C (p.Tyr28=) c.81T>C (p.Tyr27=) n.254+2884A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344569T>G | CA362007664 | SGCD | c.84T>G (p.Tyr28Ter) c.81T>G (p.Tyr27Ter) n.254+2884A>C | |
| 5 | g.156344569T= | CA1593661190 | SGCD | c.84T= (p.Tyr28=) c.81T= (p.Tyr27=) n.254+2884A= | |
| 5 | g.156344570G>A | CA3530482 | SGCD | c.85G>A (p.Gly29Ser) c.82G>A (p.Gly28Ser) n.254+2883C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344570G>C | CA362007665 | SGCD | c.85G>C (p.Gly29Arg) c.82G>C (p.Gly28Arg) n.254+2883C>G | |
| 5 | g.156344570G= | CA1593661191 | SGCD | c.85G= (p.Gly29=) c.82G= (p.Gly28=) n.254+2883C= | |
| 5 | g.156344570G>T | CA362007666 | SGCD | c.85G>T (p.Gly29Cys) c.82G>T (p.Gly28Cys) n.254+2883C>A | dbSNP gnomAD v4 |
| 5 | g.156344571G>A | CA362007667 | SGCD | c.86G>A (p.Gly29Asp) c.83G>A (p.Gly28Asp) n.254+2882C>T | |
| 5 | g.156344571G>C | CA362007668 | SGCD | c.86G>C (p.Gly29Ala) c.83G>C (p.Gly28Ala) n.254+2882C>G | |
| 5 | g.156344571G= | CA1593661192 | SGCD | c.86G= (p.Gly29=) c.83G= (p.Gly28=) n.254+2882C= | |
| 5 | g.156344571G>T | CA3530483 | SGCD | c.86G>T (p.Gly29Val) c.83G>T (p.Gly28Val) n.254+2882C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344572C>A | CA3530484 | SGCD | c.87C>A (p.Gly29=) c.84C>A (p.Gly28=) n.254+2881G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344572C= | CA1593661193 | SGCD | c.87C= (p.Gly29=) c.84C= (p.Gly28=) n.254+2881G= | |
| 5 | g.156344572C>G | CA447387400 | SGCD | c.87C>G (p.Gly29=) c.84C>G (p.Gly28=) n.254+2881G>C | |
| 5 | g.156344572C>T | CA447387399 | SGCD | c.87C>T (p.Gly29=) c.84C>T (p.Gly28=) n.254+2881G>A | |
| 5 | g.156344573T>A | CA362007669 | SGCD | c.88T>A (p.Trp30Arg) c.85T>A (p.Trp29Arg) n.254+2880A>T | |
| 5 | g.156344573T>C | CA362007671 | SGCD | c.88T>C (p.Trp30Arg) c.85T>C (p.Trp29Arg) n.254+2880A>G | |
| 5 | g.156344573T>G | CA362007670 | SGCD | c.88T>G (p.Trp30Gly) c.85T>G (p.Trp29Gly) n.254+2880A>C | |
| 5 | g.156344573T= | CA1593661194 | SGCD | c.88T= (p.Trp30=) c.85T= (p.Trp29=) n.254+2880A= | |
| 5 | g.156344573_156344574insCC | CA2531990522 | SGCD | c.88_89insCC (p.Trp30SerfsTer15) c.85_86insCC (p.Trp29SerfsTer15) n.254+2879_254+2880insGG | |
| 5 | g.156344574G>A | CA340750 | SGCD | c.89G>A (p.Trp30Ter) c.86G>A (p.Trp29Ter) n.254+2879C>T | ClinVar dbSNP |
| 5 | g.156344574G>C | CA362007672 | SGCD | c.89G>C (p.Trp30Ser) c.86G>C (p.Trp29Ser) n.254+2879C>G | ClinVar dbSNP |
| 5 | g.156344574G= | CA1593661195 | SGCD | c.89G= (p.Trp30=) c.86G= (p.Trp29=) n.254+2879C= | |
| 5 | g.156344574G>T | CA3530485 | SGCD | c.89G>T (p.Trp30Leu) c.86G>T (p.Trp29Leu) n.254+2879C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344575dup | CA563961408 | SGCD | c.90dup (p.Arg31AlafsTer?) c.87dup (p.Arg30AlafsTer?) n.254+2879dup | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344575G>A | CA362007673 | SGCD | c.90G>A (p.Trp30Ter) c.87G>A (p.Trp29Ter) n.254+2878C>T | ClinVar |
| 5 | g.156344575G>C | CA362007674 | SGCD | c.90G>C (p.Trp30Cys) c.87G>C (p.Trp29Cys) n.254+2878C>G | |
| 5 | g.156344575G>T | CA362007675 | SGCD | c.90G>T (p.Trp30Cys) c.87G>T (p.Trp29Cys) n.254+2878C>A | |
| 5 | g.156344576C>A | CA447387401 | SGCD | c.91C>A (p.Arg31=) c.88C>A (p.Arg30=) n.254+2877G>T | ClinVar dbSNP |
| 5 | g.156344576C= | CA1593661196 | SGCD | c.91C= (p.Arg31=) c.88C= (p.Arg30=) n.254+2877G= | |
| 5 | g.156344576C>G | CA200046 | SGCD | c.91C>G (p.Arg31Gly) c.88C>G (p.Arg30Gly) n.254+2877G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344576C>T | CA3530486 | SGCD | c.91C>T (p.Arg31Trp) c.88C>T (p.Arg30Trp) n.254+2877G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344577G>A | CA302926 | SGCD | c.92G>A (p.Arg31Gln) c.89G>A (p.Arg30Gln) n.254+2876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344577G>C | CA362007676 | SGCD | c.92G>C (p.Arg31Pro) c.89G>C (p.Arg30Pro) n.254+2876C>G | |
| 5 | g.156344577G= | CA1593661197 | SGCD | c.92G= (p.Arg31=) c.89G= (p.Arg30=) n.254+2876C= | |
| 5 | g.156344577G>T | CA362007677 | SGCD | c.92G>T (p.Arg31Leu) c.89G>T (p.Arg30Leu) n.254+2876C>A | |
| 5 | g.156344578G>A | CA447387403 | SGCD | c.93G>A (p.Arg31=) c.90G>A (p.Arg30=) n.254+2875C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344578G>C | CA447387404 | SGCD | c.93G>C (p.Arg31=) c.90G>C (p.Arg30=) n.254+2875C>G | dbSNP |
| 5 | g.156344578G= | CA1593661198 | SGCD | c.93G= (p.Arg31=) c.90G= (p.Arg30=) n.254+2875C= | |
| 5 | g.156344578G>T | CA447387405 | SGCD | c.93G>T (p.Arg31=) c.90G>T (p.Arg30=) n.254+2875C>A | |
| 5 | g.156344579A= | CA1593661199 | SGCD | c.94A= (p.Lys32=) c.91A= (p.Lys31=) n.254+2874T= | |
| 5 | g.156344579A>C | CA362007679 | SGCD | c.94A>C (p.Lys32Gln) c.91A>C (p.Lys31Gln) n.254+2874T>G | |
| 5 | g.156344579A>G | CA3530487 | SGCD | c.94A>G (p.Lys32Glu) c.91A>G (p.Lys31Glu) n.254+2874T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344579A>T | CA362007678 | SGCD | c.94A>T (p.Lys32Ter) c.91A>T (p.Lys31Ter) n.254+2874T>A | |
| 5 | g.156344579_156344584del | CA2532816334 | SGCD | c.94_99del (p.Lys32_Arg33del) c.91_96del (p.Lys31_Arg32del) n.254+2869_254+2874del | |
| 5 | g.156344580A= | CA1593661200 | SGCD | c.95A= (p.Lys32=) c.92A= (p.Lys31=) n.254+2873T= | |
| 5 | g.156344580A>C | CA362007680 | SGCD | c.95A>C (p.Lys32Thr) c.92A>C (p.Lys31Thr) n.254+2873T>G | |
| 5 | g.156344580A>G | CA362007681 | SGCD | c.95A>G (p.Lys32Arg) c.92A>G (p.Lys31Arg) n.254+2873T>C | dbSNP gnomAD v2 |
| 5 | g.156344580A>T | CA362007682 | SGCD | c.95A>T (p.Lys32Ile) c.92A>T (p.Lys31Ile) n.254+2873T>A | |
| 5 | g.156344581A= | CA1593661201 | SGCD | c.96A= (p.Lys32=) c.93A= (p.Lys31=) n.254+2872T= | |
| 5 | g.156344581A>C | CA362007683 | SGCD | c.96A>C (p.Lys32Asn) c.93A>C (p.Lys31Asn) n.254+2872T>G | |
| 5 | g.156344581A>G | CA447387406 | SGCD | c.96A>G (p.Lys32=) c.93A>G (p.Lys31=) n.254+2872T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344581A>T | CA362007684 | SGCD | c.96A>T (p.Lys32Asn) c.93A>T (p.Lys31Asn) n.254+2872T>A | |
| 5 | g.156344582C>A | CA447387407 | SGCD | c.97C>A (p.Arg33=) c.94C>A (p.Arg32=) n.254+2871G>T | gnomAD v4 |
| 5 | g.156344582C= | CA1593661202 | SGCD | c.97C= (p.Arg33=) c.94C= (p.Arg32=) n.254+2871G= | |
| 5 | g.156344582C>G | CA362007685 | SGCD | c.97C>G (p.Arg33Gly) c.94C>G (p.Arg32Gly) n.254+2871G>C | |
| 5 | g.156344582C>T | CA3530488 | SGCD | c.97C>T (p.Arg33Ter) c.94C>T (p.Arg32Ter) n.254+2871G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344583G>A | CA362007686 | SGCD | c.98G>A (p.Arg33Gln) c.95G>A (p.Arg32Gln) n.254+2870C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344583G>C | CA362007687 | SGCD | c.98G>C (p.Arg33Pro) c.95G>C (p.Arg32Pro) n.254+2870C>G | |
| 5 | g.156344583G= | CA1593661203 | SGCD | c.98G= (p.Arg33=) c.95G= (p.Arg32=) n.254+2870C= | |
| 5 | g.156344583G>T | CA362007688 | SGCD | c.98G>T (p.Arg33Leu) c.95G>T (p.Arg32Leu) n.254+2870C>A | |
| 5 | g.156344584A= | CA1593661204 | SGCD | c.99A= (p.Arg33=) c.96A= (p.Arg32=) n.254+2869T= | |
| 5 | g.156344584A>C | CA447387408 | SGCD | c.99A>C (p.Arg33=) c.96A>C (p.Arg32=) n.254+2869T>G | ClinVar |
| 5 | g.156344584A>G | CA447387409 | SGCD | c.99A>G (p.Arg33=) c.96A>G (p.Arg32=) n.254+2869T>C | |
| 5 | g.156344584A>T | CA3530489 | SGCD | c.99A>T (p.Arg33=) c.96A>T (p.Arg32=) n.254+2869T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344585T>A | CA362007691 | SGCD | c.100T>A (p.Cys34Ser) c.97T>A (p.Cys33Ser) n.254+2868A>T | |
| 5 | g.156344585T>C | CA362007689 | SGCD | c.100T>C (p.Cys34Arg) c.97T>C (p.Cys33Arg) n.254+2868A>G | |
| 5 | g.156344585T>G | CA362007690 | SGCD | c.100T>G (p.Cys34Gly) c.97T>G (p.Cys33Gly) n.254+2868A>C | |
| 5 | g.156344586G>A | CA362007692 | SGCD | c.101G>A (p.Cys34Tyr) c.98G>A (p.Cys33Tyr) n.254+2867C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344586G>C | CA3530490 | SGCD | c.101G>C (p.Cys34Ser) c.98G>C (p.Cys33Ser) n.254+2867C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344586G= | CA1593661205 | SGCD | c.101G= (p.Cys34=) c.98G= (p.Cys33=) n.254+2867C= | |
| 5 | g.156344586G>T | CA362007693 | SGCD | c.101G>T (p.Cys34Phe) c.98G>T (p.Cys33Phe) n.254+2867C>A | COSMIC |
| 5 | g.156344587C>A | CA362007694 | SGCD | c.102C>A (p.Cys34Ter) c.99C>A (p.Cys33Ter) n.254+2866G>T | |
| 5 | g.156344587C>G | CA362007695 | SGCD | c.102C>G (p.Cys34Trp) c.99C>G (p.Cys33Trp) n.254+2866G>C | |
| 5 | g.156344587C>T | CA447387410 | SGCD | c.102C>T (p.Cys34=) c.99C>T (p.Cys33=) n.254+2866G>A | |
| 5 | g.156344588C>A | CA362007696 | SGCD | c.103C>A (p.Leu35Met) c.100C>A (p.Leu34Met) n.254+2865G>T | |
| 5 | g.156344588C>G | CA362007697 | SGCD | c.103C>G (p.Leu35Val) c.100C>G (p.Leu34Val) n.254+2865G>C | |
| 5 | g.156344588C>T | CA447387412 | SGCD | c.103C>T (p.Leu35=) c.100C>T (p.Leu34=) n.254+2865G>A | gnomAD v4 |
| 5 | g.156344589T>A | CA362007699 | SGCD | c.104T>A (p.Leu35Gln) c.101T>A (p.Leu34Gln) n.254+2864A>T | |
| 5 | g.156344589T>C | CA130594219 | SGCD | c.104T>C (p.Leu35Pro) c.101T>C (p.Leu34Pro) n.254+2864A>G | ClinVar dbSNP |
| 5 | g.156344589T>G | CA362007698 | SGCD | c.104T>G (p.Leu35Arg) c.101T>G (p.Leu34Arg) n.254+2864A>C | |
| 5 | g.156344589T= | CA1593661206 | SGCD | c.104T= (p.Leu35=) c.101T= (p.Leu34=) n.254+2864A= | |
| 5 | g.156344590G>A | CA447387413 | SGCD | c.105G>A (p.Leu35=) c.102G>A (p.Leu34=) n.254+2863C>T | gnomAD v4 |
| 5 | g.156344590G>C | CA180929 | SGCD | c.105G>C (p.Leu35=) c.102G>C (p.Leu34=) n.254+2863C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344590G= | CA1593661207 | SGCD | c.105G= (p.Leu35=) c.102G= (p.Leu34=) n.254+2863C= | |
| 5 | g.156344590G>T | CA3530491 | SGCD | c.105G>T (p.Leu35=) c.102G>T (p.Leu34=) n.254+2863C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344591T>A | CA362007700 | SGCD | c.106T>A (p.Tyr36Asn) c.103T>A (p.Tyr35Asn) n.254+2862A>T | |
| 5 | g.156344591T>C | CA362007701 | SGCD | c.106T>C (p.Tyr36His) c.103T>C (p.Tyr35His) n.254+2862A>G | gnomAD v4 |
| 5 | g.156344591T>G | CA362007702 | SGCD | c.106T>G (p.Tyr36Asp) c.103T>G (p.Tyr35Asp) n.254+2862A>C | |
| 5 | g.156344592A>C | CA362007703 | SGCD | c.107A>C (p.Tyr36Ser) c.104A>C (p.Tyr35Ser) n.254+2861T>G | |
| 5 | g.156344592A>G | CA362007704 | SGCD | c.107A>G (p.Tyr36Cys) c.104A>G (p.Tyr35Cys) n.254+2861T>C | gnomAD v4 |
| 5 | g.156344592A>T | CA362007705 | SGCD | c.107A>T (p.Tyr36Phe) c.104A>T (p.Tyr35Phe) n.254+2861T>A | |
| 5 | g.156344593T>A | CA362007706 | SGCD | c.108T>A (p.Tyr36Ter) c.105T>A (p.Tyr35Ter) n.254+2860A>T | |
| 5 | g.156344593T>C | CA447387414 | SGCD | c.108T>C (p.Tyr36=) c.105T>C (p.Tyr35=) n.254+2860A>G | gnomAD v4 |
| 5 | g.156344593T>G | CA362007707 | SGCD | c.108T>G (p.Tyr36Ter) c.105T>G (p.Tyr35Ter) n.254+2860A>C | |
| 5 | g.156344593_156344602del | CA2551607716 | SGCD | c.108_117del (p.Phe37CysfsTer4) c.105_114del (p.Phe36CysfsTer4) n.254+2851_254+2860del | |
| 5 | g.156344594T>A | CA362007708 | SGCD | c.109T>A (p.Phe37Ile) c.106T>A (p.Phe36Ile) n.254+2859A>T | gnomAD v4 |
| 5 | g.156344594T>C | CA362007710 | SGCD | c.109T>C (p.Phe37Leu) c.106T>C (p.Phe36Leu) n.254+2859A>G | |
| 5 | g.156344594T>G | CA362007709 | SGCD | c.109T>G (p.Phe37Val) c.106T>G (p.Phe36Val) n.254+2859A>C | |
| 5 | g.156344595T>A | CA362007711 | SGCD | c.110T>A (p.Phe37Tyr) c.107T>A (p.Phe36Tyr) n.254+2858A>T | |
| 5 | g.156344595T>C | CA362007712 | SGCD | c.110T>C (p.Phe37Ser) c.107T>C (p.Phe36Ser) n.254+2858A>G | |
| 5 | g.156344595T>G | CA362007713 | SGCD | c.110T>G (p.Phe37Cys) c.107T>G (p.Phe36Cys) n.254+2858A>C | |
| 5 | g.156344596C>A | CA362007714 | SGCD | c.111C>A (p.Phe37Leu) c.108C>A (p.Phe36Leu) n.254+2857G>T | |
| 5 | g.156344596C>G | CA362007715 | SGCD | c.111C>G (p.Phe37Leu) c.108C>G (p.Phe36Leu) n.254+2857G>C | |
| 5 | g.156344596C>T | CA447387415 | SGCD | c.111C>T (p.Phe37=) c.108C>T (p.Phe36=) n.254+2857G>A | gnomAD v4 |
| 5 | g.156344597T>A | CA362007716 | SGCD | c.112T>A (p.Phe38Ile) c.109T>A (p.Phe37Ile) n.254+2856A>T | |
| 5 | g.156344597T>C | CA130594220 | SGCD | c.112T>C (p.Phe38Leu) c.109T>C (p.Phe37Leu) n.254+2856A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344597T>G | CA362007717 | SGCD | c.112T>G (p.Phe38Val) c.109T>G (p.Phe37Val) n.254+2856A>C | |
| 5 | g.156344597T= | CA1593661208 | SGCD | c.112T= (p.Phe38=) c.109T= (p.Phe37=) n.254+2856A= | |
| 5 | g.156344598T>A | CA362007718 | SGCD | c.113T>A (p.Phe38Tyr) c.110T>A (p.Phe37Tyr) n.254+2855A>T | |
| 5 | g.156344598T>C | CA362007719 | SGCD | c.113T>C (p.Phe38Ser) c.110T>C (p.Phe37Ser) n.254+2855A>G | |
| 5 | g.156344598T>G | CA130594221 | SGCD | c.113T>G (p.Phe38Cys) c.110T>G (p.Phe37Cys) n.254+2855A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344598T= | CA1593661209 | SGCD | c.113T= (p.Phe38=) c.110T= (p.Phe37=) n.254+2855A= | |
| 5 | g.156344599T>A | CA362007721 | SGCD | c.114T>A (p.Phe38Leu) c.111T>A (p.Phe37Leu) n.254+2854A>T | |
| 5 | g.156344599T>C | CA447387416 | SGCD | c.114T>C (p.Phe38=) c.111T>C (p.Phe37=) n.254+2854A>G | |
| 5 | g.156344599T>G | CA362007720 | SGCD | c.114T>G (p.Phe38Leu) c.111T>G (p.Phe37Leu) n.254+2854A>C | |
| 5 | g.156344600G>A | CA362007722 | SGCD | c.115G>A (p.Val39Ile) c.112G>A (p.Val38Ile) n.254+2853C>T | |
| 5 | g.156344600G>C | CA362007723 | SGCD | c.115G>C (p.Val39Leu) c.112G>C (p.Val38Leu) n.254+2853C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344600G= | CA1593661210 | SGCD | c.115G= (p.Val39=) c.112G= (p.Val38=) n.254+2853C= | |
| 5 | g.156344600G>T | CA362007724 | SGCD | c.115G>T (p.Val39Phe) c.112G>T (p.Val38Phe) n.254+2853C>A |