| 4 | g.46123782A= | CA1454682614 | GABRG1 | c.104+28T= (n.104+28T=)
| |
| 4 | g.46123782A>G | CA551262386 | GABRG1 | c.104+28T>C (n.104+28T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123783T>G | CA2670516193 | GABRG1 | c.104+27A>C (n.104+27A>C)
| gnomAD v4 |
| 4 | g.46123784A>C | CA2670516194 | GABRG1 | c.104+26T>G (n.104+26T>G)
| gnomAD v4 |
| 4 | g.46123784A>G | CA2578078363 | GABRG1 | c.104+26T>C (n.104+26T>C)
| gnomAD v4 |
| 4 | g.46123785G>C | CA551262387 | GABRG1 | c.104+25C>G (n.104+25C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46123785G= | CA1454682615 | GABRG1 | c.104+25C= (n.104+25C=)
| |
| 4 | g.46123785G>T | CA2670516195 | GABRG1 | c.104+25C>A (n.104+25C>A)
| gnomAD v4 |
| 4 | g.46123786T>A | CA2670516196 | GABRG1 | c.104+24A>T (n.104+24A>T)
| gnomAD v4 |
| 4 | g.46123788T>A | CA551262388 | GABRG1 | c.104+22A>T (n.104+22A>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46123788T>G | CA2906471 | GABRG1 | c.104+22A>C (n.104+22A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123788T= | CA1454682616 | GABRG1 | c.104+22A= (n.104+22A=)
| |
| 4 | g.46123789T>C | CA551262390 | GABRG1 | c.104+21A>G (n.104+21A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46123789T>G | CA2906472 | GABRG1 | c.104+21A>C (n.104+21A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123789T= | CA1454682617 | GABRG1 | c.104+21A= (n.104+21A=)
| |
| 4 | g.46123790A>C | CA2670516197 | GABRG1 | c.104+20T>G (n.104+20T>G)
| gnomAD v4 |
| 4 | g.46123790_46123791insTTTTCTGATTAG | CA2538012430 | GABRG1 | c.104+19_104+20insCTAATCAGAAAA (n.104+19_104+20insCTAATCAGAAAA)
| |
| 4 | g.46123792A>G | CA2670516198 | GABRG1 | c.104+18T>C (n.104+18T>C)
| dbSNP gnomAD v4 |
| 4 | g.46123792A>T | CA2564275022 | GABRG1 | c.104+18T>A (n.104+18T>A)
| |
| 4 | g.46123793C>A | CA2906473 | GABRG1 | c.104+17G>T (n.104+17G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123793C= | CA1454682618 | GABRG1 | c.104+17G= (n.104+17G=)
| |
| 4 | g.46123793C>T | CA551262394 | GABRG1 | c.104+17G>A (n.104+17G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123795C>A | CA649412700 | GABRG1 | c.104+15G>T (n.104+15G>T)
| COSMIC |
| 4 | g.46123795C>T | CA2670516199 | GABRG1 | c.104+15G>A (n.104+15G>A)
| gnomAD v4 |
| 4 | g.46123796C>A | CA551262396 | GABRG1 | c.104+14G>T (n.104+14G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.46123796C= | CA1454682619 | GABRG1 | c.104+14G= (n.104+14G=)
| |
| 4 | g.46123798G= | CA1454682620 | GABRG1 | c.104+12C= (n.104+12C=)
| |
| 4 | g.46123798G>T | CA1061861074 | GABRG1 | c.104+12C>A (n.104+12C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46123799A= | CA1454682621 | GABRG1 | c.104+11T= (n.104+11T=)
| |
| 4 | g.46123799A>G | CA2906474 | GABRG1 | c.104+11T>C (n.104+11T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123800A= | CA1454682622 | GABRG1 | c.104+10T= (n.104+10T=)
| |
| 4 | g.46123800A>G | CA1454682623 | GABRG1 | c.104+10T>C (n.104+10T>C)
| dbSNP gnomAD v4 |
| 4 | g.46123801T>C | CA551262397 | GABRG1 | c.104+9A>G (n.104+9A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46123801T= | CA1454682624 | GABRG1 | c.104+9A= (n.104+9A=)
| |
| 4 | g.46123802T>G | CA1061861076 | GABRG1 | c.104+8A>C (n.104+8A>C)
| gnomAD v3 gnomAD v4 |
| 4 | g.46123803T>C | CA2670516200 | GABRG1 | c.104+7A>G (n.104+7A>G)
| gnomAD v4 |
| 4 | g.46123804A= | CA1454682625 | GABRG1 | c.104+6T= (n.104+6T=)
| |
| 4 | g.46123804A>C | CA2906475 | GABRG1 | c.104+6T>G (n.104+6T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123805C= | CA1454682626 | GABRG1 | c.104+5G= (n.104+5G=)
| |
| 4 | g.46123805C>G | CA795333382 | GABRG1 | c.104+5G>C (n.104+5G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46123805C>T | CA2670516201 | GABRG1 | c.104+5G>A (n.104+5G>A)
| gnomAD v4 |
| 4 | g.46123806T>A | CA2670516202 | GABRG1 | c.104+4A>T (n.104+4A>T)
| gnomAD v4 |
| 4 | g.46123808A= | CA1454682627 | GABRG1 | c.104+2T= (n.104+2T=)
| |
| 4 | g.46123808A>C | CA356803435 | GABRG1 | c.104+2T>G (n.104+2T>G)
| |
| 4 | g.46123808A>G | CA356803438 | GABRG1 | c.104+2T>C (n.104+2T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46123808A>T | CA356803441 | GABRG1 | c.104+2T>A (n.104+2T>A)
| |
| 4 | g.46123809C>A | CA356803445 | GABRG1 | c.104+1G>T (n.104+1G>T)
| |
| 4 | g.46123809C>G | CA356803447 | GABRG1 | c.104+1G>C (n.104+1G>C)
| |
| 4 | g.46123809C>T | CA356803450 | GABRG1 | c.104+1G>A (n.104+1G>A)
| |
| 4 | g.46123810C>A | CA356803453 | GABRG1 | c.104G>T (p.Cys35Phe)
| |
| 4 | g.46123810C>G | CA356803455 | GABRG1 | c.104G>C (p.Cys35Ser)
| |
| 4 | g.46123810C>T | CA356803457 | GABRG1 | c.104G>A (p.Cys35Tyr)
| |
| 4 | g.46123811A>C | CA356803466 | GABRG1 | c.103T>G (p.Cys35Gly)
| |
| 4 | g.46123811A>G | CA356803464 | GABRG1 | c.103T>C (p.Cys35Arg)
| gnomAD v4 |
| 4 | g.46123811A>T | CA356803461 | GABRG1 | c.103T>A (p.Cys35Ser)
| |
| 4 | g.46123812G>A | CA439236940 | GABRG1 | c.102C>T (p.Asn34=)
| |
| 4 | g.46123812G>C | CA356803469 | GABRG1 | c.102C>G (p.Asn34Lys)
| |
| 4 | g.46123812G>T | CA356803471 | GABRG1 | c.102C>A (p.Asn34Lys)
| |
| 4 | g.46123813T>A | CA356803476 | GABRG1 | c.101A>T (p.Asn34Ile)
| |
| 4 | g.46123813T>C | CA356803481 | GABRG1 | c.101A>G (p.Asn34Ser)
| |
| 4 | g.46123813T>G | CA356803479 | GABRG1 | c.101A>C (p.Asn34Thr)
| |
| 4 | g.46123815del | CA2670516203 | GABRG1 | c.101del (p.Asn34ThrfsTer14)
| gnomAD v4 |
| 4 | g.46123814T>A | CA356803486 | GABRG1 | c.100A>T (p.Asn34Tyr)
| |
| 4 | g.46123814T>C | CA356803492 | GABRG1 | c.100A>G (p.Asn34Asp)
| |
| 4 | g.46123814T>G | CA356803489 | GABRG1 | c.100A>C (p.Asn34His)
| |
| 4 | g.46123815T>A | CA439236941 | GABRG1 | c.99A>T (p.Gly33=)
| gnomAD v4 |
| 4 | g.46123815T>C | CA439236942 | GABRG1 | c.99A>G (p.Gly33=)
| |
| 4 | g.46123815T>G | CA439236943 | GABRG1 | c.99A>C (p.Gly33=)
| |
| 4 | g.46123816C>A | CA356803499 | GABRG1 | c.98G>T (p.Gly33Val)
| |
| 4 | g.46123816C= | CA1454682628 | GABRG1 | c.98G= (p.Gly33=)
| |
| 4 | g.46123816C>G | CA2906476 | GABRG1 | c.98G>C (p.Gly33Ala)
| dbSNP ExAC gnomAD v4 |
| 4 | g.46123816C>T | CA356803503 | GABRG1 | c.98G>A (p.Gly33Glu)
| COSMIC |
| 4 | g.46123817C>A | CA356803507 | GABRG1 | c.97G>T (p.Gly33Ter)
| |
| 4 | g.46123817C= | CA1454682629 | GABRG1 | c.97G= (p.Gly33=)
| |
| 4 | g.46123817C>G | CA356803509 | GABRG1 | c.97G>C (p.Gly33Arg)
| |
| 4 | g.46123817C>T | CA356803512 | GABRG1 | c.97G>A (p.Gly33Arg)
| dbSNP gnomAD v4 |
| 4 | g.46123818C>A | CA356803516 | GABRG1 | c.96G>T (p.Leu32Phe)
| |
| 4 | g.46123818C>G | CA356803518 | GABRG1 | c.96G>C (p.Leu32Phe)
| |
| 4 | g.46123818C>T | CA439236944 | GABRG1 | c.96G>A (p.Leu32=)
| gnomAD v4 |
| 4 | g.46123819A>C | CA356803523 | GABRG1 | c.95T>G (p.Leu32Trp)
| |
| 4 | g.46123819A>G | CA356803525 | GABRG1 | c.95T>C (p.Leu32Ser)
| gnomAD v4 |
| 4 | g.46123819A>T | CA356803526 | GABRG1 | c.95T>A (p.Leu32Ter)
| |
| 4 | g.46123820A>C | CA356803533 | GABRG1 | c.94T>G (p.Leu32Val)
| |
| 4 | g.46123820A>G | CA439236945 | GABRG1 | c.94T>C (p.Leu32=)
| |
| 4 | g.46123820A>T | CA356803530 | GABRG1 | c.94T>A (p.Leu32Met)
| |
| 4 | g.46123821A>C | CA356803536 | GABRG1 | c.93T>G (p.His31Gln)
| |
| 4 | g.46123821A>G | CA439236946 | GABRG1 | c.93T>C (p.His31=)
| |
| 4 | g.46123821A>T | CA356803538 | GABRG1 | c.93T>A (p.His31Gln)
| gnomAD v4 |
| 4 | g.46123822T>A | CA356803542 | GABRG1 | c.92A>T (p.His31Leu)
| |
| 4 | g.46123822T>C | CA2906477 | GABRG1 | c.92A>G (p.His31Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123822T>G | CA356803547 | GABRG1 | c.92A>C (p.His31Pro)
| gnomAD v4 |
| 4 | g.46123822T= | CA1454682630 | GABRG1 | c.92A= (p.His31=)
| |
| 4 | g.46123823G>A | CA356803551 | GABRG1 | c.91C>T (p.His31Tyr)
| gnomAD v4 |
| 4 | g.46123823G>C | CA356803553 | GABRG1 | c.91C>G (p.His31Asp)
| |
| 4 | g.46123823G>T | CA356803555 | GABRG1 | c.91C>A (p.His31Asn)
| |
| 4 | g.46123823_46123834dup | CA2670516204 | GABRG1 | c.80_91dup (p.Leu30_His31insLeuLeuThrLeu)
| gnomAD v4 |
| 4 | g.46123824C>A | CA439236947 | GABRG1 | c.90G>T (p.Leu30=)
| |
| 4 | g.46123824C= | CA1454682631 | GABRG1 | c.90G= (p.Leu30=)
| |
| 4 | g.46123824C>G | CA439236948 | GABRG1 | c.90G>C (p.Leu30=)
| COSMIC |
| 4 | g.46123824C>T | CA439236949 | GABRG1 | c.90G>A (p.Leu30=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46123825A>C | CA356803560 | GABRG1 | c.89T>G (p.Leu30Arg)
| |
| 4 | g.46123825A>G | CA356803562 | GABRG1 | c.89T>C (p.Leu30Pro)
| |
| 4 | g.46123825A>T | CA356803565 | GABRG1 | c.89T>A (p.Leu30Gln)
| |
| 4 | g.46123826G>A | CA439236950 | GABRG1 | c.88C>T (p.Leu30=)
| gnomAD v4 |
| 4 | g.46123826G>C | CA356803571 | GABRG1 | c.88C>G (p.Leu30Val)
| |
| 4 | g.46123826G>T | CA356803569 | GABRG1 | c.88C>A (p.Leu30Met)
| COSMIC |
| 4 | g.46123827G>A | CA439236951 | GABRG1 | c.87C>T (p.Thr29=)
| gnomAD v4 |
| 4 | g.46123827G>C | CA439236952 | GABRG1 | c.87C>G (p.Thr29=)
| |
| 4 | g.46123827G>T | CA439236953 | GABRG1 | c.87C>A (p.Thr29=)
| |
| 4 | g.46123828G>A | CA356803574 | GABRG1 | c.86C>T (p.Thr29Ile)
| |
| 4 | g.46123828G>C | CA356803577 | GABRG1 | c.86C>G (p.Thr29Ser)
| |
| 4 | g.46123828G= | CA1454682632 | GABRG1 | c.86C= (p.Thr29=)
| |
| 4 | g.46123828G>T | CA97039411 | GABRG1 | c.86C>A (p.Thr29Asn)
| dbSNP |
| 4 | g.46123829T>A | CA356803584 | GABRG1 | c.85A>T (p.Thr29Ser)
| gnomAD v4 |
| 4 | g.46123829T>C | CA97039414 | GABRG1 | c.85A>G (p.Thr29Ala)
| dbSNP gnomAD v4 COSMIC |
| 4 | g.46123829T>G | CA356803589 | GABRG1 | c.85A>C (p.Thr29Pro)
| |
| 4 | g.46123829T= | CA1454682633 | GABRG1 | c.85A= (p.Thr29=)
| |
| 4 | g.46123830C>A | CA439236954 | GABRG1 | c.84G>T (p.Leu28=)
| |
| 4 | g.46123830C= | CA1454682634 | GABRG1 | c.84G= (p.Leu28=)
| |
| 4 | g.46123830C>G | CA439236955 | GABRG1 | c.84G>C (p.Leu28=)
| dbSNP gnomAD v2 |
| 4 | g.46123830C>T | CA439236956 | GABRG1 | c.84G>A (p.Leu28=)
| gnomAD v4 |
| 4 | g.46123831A>C | CA356803592 | GABRG1 | c.83T>G (p.Leu28Arg)
| |
| 4 | g.46123831A>G | CA356803595 | GABRG1 | c.83T>C (p.Leu28Pro)
| COSMIC |
| 4 | g.46123831A>T | CA356803597 | GABRG1 | c.83T>A (p.Leu28Gln)
| |
| 4 | g.46123832G>A | CA439236957 | GABRG1 | c.82C>T (p.Leu28=)
| |
| 4 | g.46123832G>C | CA356803601 | GABRG1 | c.82C>G (p.Leu28Val)
| |
| 4 | g.46123832G>T | CA356803603 | GABRG1 | c.82C>A (p.Leu28Met)
| |
| 4 | g.46123833T>A | CA356803606 | GABRG1 | c.81A>T (p.Leu27Phe)
| |
| 4 | g.46123833T>C | CA439236958 | GABRG1 | c.81A>G (p.Leu27=)
| |
| 4 | g.46123833T>G | CA356803609 | GABRG1 | c.81A>C (p.Leu27Phe)
| |
| 4 | g.46123834A= | CA1454682635 | GABRG1 | c.80T= (p.Leu27=)
| |
| 4 | g.46123834A>C | CA356803612 | GABRG1 | c.80T>G (p.Leu27Ter)
| |
| 4 | g.46123834A>G | CA356803617 | GABRG1 | c.80T>C (p.Leu27Ser)
| |
| 4 | g.46123834A>T | CA2906478 | GABRG1 | c.80T>A (p.Leu27Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123835A>C | CA356803620 | GABRG1 | c.79T>G (p.Leu27Val)
| |
| 4 | g.46123835A>G | CA439236959 | GABRG1 | c.79T>C (p.Leu27=)
| |
| 4 | g.46123835A>T | CA356803623 | GABRG1 | c.79T>A (p.Leu27Ile)
| |
| 4 | g.46123836C>A | CA356803626 | GABRG1 | c.78G>T (p.Leu26Phe)
| |
| 4 | g.46123836C>G | CA356803628 | GABRG1 | c.78G>C (p.Leu26Phe)
| |
| 4 | g.46123836C>T | CA439236960 | GABRG1 | c.78G>A (p.Leu26=)
| |
| 4 | g.46123837A= | CA1454682636 | GABRG1 | c.77T= (p.Leu26=)
| |
| 4 | g.46123837A>C | CA356803630 | GABRG1 | c.77T>G (p.Leu26Trp)
| |
| 4 | g.46123837A>G | CA356803633 | GABRG1 | c.77T>C (p.Leu26Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123837A>T | CA356803635 | GABRG1 | c.77T>A (p.Leu26Ter)
| |
| 4 | g.46123841_46123843del | CA2670516205 | GABRG1 | c.75_77del (p.Phe25del)
| gnomAD v4 |
| 4 | g.46123838A>C | CA356803639 | GABRG1 | c.76T>G (p.Leu26Val)
| |
| 4 | g.46123838A>G | CA439236961 | GABRG1 | c.76T>C (p.Leu26=)
| |
| 4 | g.46123838A>T | CA356803642 | GABRG1 | c.76T>A (p.Leu26Met)
| |
| 4 | g.46123839G>A | CA439236962 | GABRG1 | c.75C>T (p.Phe25=)
| |
| 4 | g.46123839G>C | CA356803646 | GABRG1 | c.75C>G (p.Phe25Leu)
| |
| 4 | g.46123839G>T | CA356803648 | GABRG1 | c.75C>A (p.Phe25Leu)
| |
| 4 | g.46123840A>C | CA356803654 | GABRG1 | c.74T>G (p.Phe25Cys)
| |
| 4 | g.46123840A>G | CA356803656 | GABRG1 | c.74T>C (p.Phe25Ser)
| |
| 4 | g.46123840A>T | CA356803652 | GABRG1 | c.74T>A (p.Phe25Tyr)
| |
| 4 | g.46123841A>C | CA356803661 | GABRG1 | c.73T>G (p.Phe25Val)
| |
| 4 | g.46123841A>G | CA356803663 | GABRG1 | c.73T>C (p.Phe25Leu)
| |
| 4 | g.46123841A>T | CA356803666 | GABRG1 | c.73T>A (p.Phe25Ile)
| |
| 4 | g.46123842G>A | CA439236964 | GABRG1 | c.72C>T (p.Val24=)
| COSMIC |
| 4 | g.46123842G>C | CA439236965 | GABRG1 | c.72C>G (p.Val24=)
| |
| 4 | g.46123842G>T | CA439236963 | GABRG1 | c.72C>A (p.Val24=)
| |
| 4 | g.46123843A= | CA1454682637 | GABRG1 | c.71T= (p.Val24=)
| |
| 4 | g.46123843A>C | CA356803671 | GABRG1 | c.71T>G (p.Val24Gly)
| |
| 4 | g.46123843A>G | CA356803673 | GABRG1 | c.71T>C (p.Val24Ala)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.46123843A>T | CA356803676 | GABRG1 | c.71T>A (p.Val24Asp)
| |
| 4 | g.46123844C>A | CA356803679 | GABRG1 | c.70G>T (p.Val24Phe)
| |
| 4 | g.46123844C>G | CA356803682 | GABRG1 | c.70G>C (p.Val24Leu)
| COSMIC |
| 4 | g.46123844C>T | CA356803685 | GABRG1 | c.70G>A (p.Val24Ile)
| COSMIC |
| 4 | g.46123845C>A | CA356803687 | GABRG1 | c.69G>T (p.Leu23Phe)
| dbSNP |
| 4 | g.46123845C= | CA1454682638 | GABRG1 | c.69G= (p.Leu23=)
| |
| 4 | g.46123845C>G | CA356803690 | GABRG1 | c.69G>C (p.Leu23Phe)
| |
| 4 | g.46123845C>T | CA439236966 | GABRG1 | c.69G>A (p.Leu23=)
| |
| 4 | g.46123846A>C | CA356803693 | GABRG1 | c.68T>G (p.Leu23Trp)
| gnomAD v4 |
| 4 | g.46123846A>G | CA356803695 | GABRG1 | c.68T>C (p.Leu23Ser)
| |
| 4 | g.46123846A>T | CA356803697 | GABRG1 | c.68T>A (p.Leu23Ter)
| |
| 4 | g.46123847A= | CA1454682639 | GABRG1 | c.67T= (p.Leu23=)
| |
| 4 | g.46123847A>C | CA356803701 | GABRG1 | c.67T>G (p.Leu23Val)
| |
| 4 | g.46123847A>G | CA439236967 | GABRG1 | c.67T>C (p.Leu23=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46123847A>T | CA356803702 | GABRG1 | c.67T>A (p.Leu23Met)
| |
| 4 | g.46123848C>A | CA356803705 | GABRG1 | c.66G>T (p.Arg22Ser)
| dbSNP |
| 4 | g.46123848C= | CA1454682640 | GABRG1 | c.66G= (p.Arg22=)
| |
| 4 | g.46123848C>G | CA356803708 | GABRG1 | c.66G>C (p.Arg22Ser)
| |
| 4 | g.46123848C>T | CA439236968 | GABRG1 | c.66G>A (p.Arg22=)
| COSMIC |
| 4 | g.46123849C>A | CA356803712 | GABRG1 | c.65G>T (p.Arg22Met)
| COSMIC |
| 4 | g.46123849C>G | CA356803714 | GABRG1 | c.65G>C (p.Arg22Thr)
| COSMIC |
| 4 | g.46123849C>T | CA356803717 | GABRG1 | c.65G>A (p.Arg22Lys)
| |
| 4 | g.46123850T>A | CA2906479 | GABRG1 | c.64A>T (p.Arg22Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123850T>C | CA356803722 | GABRG1 | c.64A>G (p.Arg22Gly)
| |
| 4 | g.46123850T>G | CA439236969 | GABRG1 | c.64A>C (p.Arg22=)
| |
| 4 | g.46123850T= | CA1454682641 | GABRG1 | c.64A= (p.Arg22=)
| |
| 4 | g.46123851C>A | CA439236970 | GABRG1 | c.63G>T (p.Val21=)
| |
| 4 | g.46123851C>G | CA439236971 | GABRG1 | c.63G>C (p.Val21=)
| |
| 4 | g.46123851C>T | CA439236972 | GABRG1 | c.63G>A (p.Val21=)
| |
| 4 | g.46123852A>C | CA356803725 | GABRG1 | c.62T>G (p.Val21Gly)
| gnomAD v4 |
| 4 | g.46123852A>G | CA356803727 | GABRG1 | c.62T>C (p.Val21Ala)
| gnomAD v4 |
| 4 | g.46123852A>T | CA356803730 | GABRG1 | c.62T>A (p.Val21Glu)
| |
| 4 | g.46123853C>A | CA356803733 | GABRG1 | c.61G>T (p.Val21Leu)
| gnomAD v4 |
| 4 | g.46123853C= | CA1454682642 | GABRG1 | c.61G= (p.Val21=)
| |
| 4 | g.46123853C>G | CA356803736 | GABRG1 | c.61G>C (p.Val21Leu)
| gnomAD v4 |
| 4 | g.46123853C>T | CA356803741 | GABRG1 | c.61G>A (p.Val21Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123854C>A | CA439236973 | GABRG1 | c.60G>T (p.Gly20=)
| gnomAD v4 |
| 4 | g.46123854C= | CA1454682643 | GABRG1 | c.60G= (p.Gly20=)
| |
| 4 | g.46123854C>G | CA439236974 | GABRG1 | c.60G>C (p.Gly20=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46123854C>T | CA439236975 | GABRG1 | c.60G>A (p.Gly20=)
| gnomAD v4 |
| 4 | g.46123855C>A | CA356803744 | GABRG1 | c.59G>T (p.Gly20Val)
| COSMIC |
| 4 | g.46123855C>G | CA356803747 | GABRG1 | c.59G>C (p.Gly20Ala)
| |
| 4 | g.46123855C>T | CA356803745 | GABRG1 | c.59G>A (p.Gly20Glu)
| |
| 4 | g.46123856C>A | CA356803749 | GABRG1 | c.58G>T (p.Gly20Trp)
| |
| 4 | g.46123856C= | CA1454682644 | GABRG1 | c.58G= (p.Gly20=)
| |
| 4 | g.46123856C>G | CA356803750 | GABRG1 | c.58G>C (p.Gly20Arg)
| |
| 4 | g.46123856C>T | CA356803752 | GABRG1 | c.58G>A (p.Gly20Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123857T>A | CA356803754 | GABRG1 | c.57A>T (p.Arg19Ser)
| |
| 4 | g.46123857T>C | CA439236976 | GABRG1 | c.57A>G (p.Arg19=)
| |
| 4 | g.46123857T>G | CA356803755 | GABRG1 | c.57A>C (p.Arg19Ser)
| |
| 4 | g.46123858C>A | CA356803757 | GABRG1 | c.56G>T (p.Arg19Ile)
| |
| 4 | g.46123858C= | CA1454682645 | GABRG1 | c.56G= (p.Arg19=)
| |
| 4 | g.46123858C>G | CA356803758 | GABRG1 | c.56G>C (p.Arg19Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46123858C>T | CA97039419 | GABRG1 | c.56G>A (p.Arg19Lys)
| dbSNP |
| 4 | g.46123859T>A | CA356803764 | GABRG1 | c.55A>T (p.Arg19Ter)
| |
| 4 | g.46123859T>C | CA2906480 | GABRG1 | c.55A>G (p.Arg19Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123859T>G | CA439236977 | GABRG1 | c.55A>C (p.Arg19=)
| |
| 4 | g.46123859T= | CA1454682646 | GABRG1 | c.55A= (p.Arg19=)
| |
| 4 | g.46123860A>C | CA356803766 | GABRG1 | c.54T>G (p.Ser18Arg)
| |
| 4 | g.46123860A>G | CA439236978 | GABRG1 | c.54T>C (p.Ser18=)
| |
| 4 | g.46123860A>T | CA356803768 | GABRG1 | c.54T>A (p.Ser18Arg)
| |
| 4 | g.46123861C>A | CA356803774 | GABRG1 | c.53G>T (p.Ser18Ile)
| |
| 4 | g.46123861C= | CA1454682647 | GABRG1 | c.53G= (p.Ser18=)
| |
| 4 | g.46123861C>G | CA356803772 | GABRG1 | c.53G>C (p.Ser18Thr)
| |
| 4 | g.46123861C>T | CA356803770 | GABRG1 | c.53G>A (p.Ser18Asn)
| dbSNP gnomAD v2 |
| 4 | g.46123862T>A | CA356803776 | GABRG1 | c.52A>T (p.Ser18Cys)
| |
| 4 | g.46123862T>C | CA356803778 | GABRG1 | c.52A>G (p.Ser18Gly)
| |
| 4 | g.46123862T>G | CA356803783 | GABRG1 | c.52A>C (p.Ser18Arg)
| |
| 4 | g.46123863T>A | CA356803785 | GABRG1 | c.51A>T (p.Gln17His)
| |
| 4 | g.46123863T>C | CA439236979 | GABRG1 | c.51A>G (p.Gln17=)
| |
| 4 | g.46123863T>G | CA356803786 | GABRG1 | c.51A>C (p.Gln17His)
| |
| 4 | g.46123864T>A | CA356803787 | GABRG1 | c.50A>T (p.Gln17Leu)
| |
| 4 | g.46123864T>C | CA2906481 | GABRG1 | c.50A>G (p.Gln17Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123864T>G | CA356803788 | GABRG1 | c.50A>C (p.Gln17Pro)
| |
| 4 | g.46123864T= | CA1454682648 | GABRG1 | c.50A= (p.Gln17=)
| |
| 4 | g.46123865G>A | CA356803790 | GABRG1 | c.49C>T (p.Gln17Ter)
| |
| 4 | g.46123865G>C | CA356803793 | GABRG1 | c.49C>G (p.Gln17Glu)
| |
| 4 | g.46123865G>T | CA356803794 | GABRG1 | c.49C>A (p.Gln17Lys)
| |
| 4 | g.46123866A= | CA1454682649 | GABRG1 | c.48T= (p.Ser16=)
| |
| 4 | g.46123866A>C | CA356803795 | GABRG1 | c.48T>G (p.Ser16Arg)
| |
| 4 | g.46123866A>G | CA439236980 | GABRG1 | c.48T>C (p.Ser16=)
| |
| 4 | g.46123866A>T | CA2906482 | GABRG1 | c.48T>A (p.Ser16Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123867C>A | CA356803801 | GABRG1 | c.47G>T (p.Ser16Ile)
| COSMIC |
| 4 | g.46123867C>G | CA356803803 | GABRG1 | c.47G>C (p.Ser16Thr)
| |
| 4 | g.46123867C>T | CA356803799 | GABRG1 | c.47G>A (p.Ser16Asn)
| COSMIC |
| 4 | g.46123868T>A | CA356803808 | GABRG1 | c.46A>T (p.Ser16Cys)
| |
| 4 | g.46123868T>C | CA356803805 | GABRG1 | c.46A>G (p.Ser16Gly)
| |
| 4 | g.46123868T>G | CA356803806 | GABRG1 | c.46A>C (p.Ser16Arg)
| |
| 4 | g.46123869C>A | CA439236982 | GABRG1 | c.45G>T (p.Arg15=)
| |
| 4 | g.46123869C>G | CA439236983 | GABRG1 | c.45G>C (p.Arg15=)
| |
| 4 | g.46123869C>T | CA439236984 | GABRG1 | c.45G>A (p.Arg15=)
| gnomAD v4 |
| 4 | g.46123870C>A | CA356803813 | GABRG1 | c.44G>T (p.Arg15Leu)
| |
| 4 | g.46123870C= | CA1454682650 | GABRG1 | c.44G= (p.Arg15=)
| |
| 4 | g.46123870C>G | CA356803815 | GABRG1 | c.44G>C (p.Arg15Pro)
| |
| 4 | g.46123870C>T | CA356803817 | GABRG1 | c.44G>A (p.Arg15Gln)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.46123871G>A | CA356803819 | GABRG1 | c.43C>T (p.Arg15Trp)
| gnomAD v4 |
| 4 | g.46123871G>C | CA2906484 | GABRG1 | c.43C>G (p.Arg15Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123871G= | CA1454682651 | GABRG1 | c.43C= (p.Arg15=)
| |
| 4 | g.46123871G>T | CA2906483 | GABRG1 | c.43C>A (p.Arg15=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123872C>A | CA439236986 | GABRG1 | c.42G>T (p.Leu14=)
| |
| 4 | g.46123872C= | CA1454682653 | GABRG1 | c.42G= (p.Leu14=)
| |
| 4 | g.46123872C>G | CA439236987 | GABRG1 | c.42G>C (p.Leu14=)
| |
| 4 | g.46123872C>T | CA439236988 | GABRG1 | c.42G>A (p.Leu14=)
| dbSNP |
| 4 | g.46123872_46123875delinsCAGA | CA1454682652 | GABRG1 | c.39_42delinsTCTG (p.Leu13=)
| |
| 4 | g.46123873A= | CA1454682654 | GABRG1 | c.41T= (p.Leu14=)
| |
| 4 | g.46123873A>C | CA97039426 | GABRG1 | c.41T>G (p.Leu14Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123873A>G | CA356803824 | GABRG1 | c.41T>C (p.Leu14Pro)
| |
| 4 | g.46123873A>T | CA356803826 | GABRG1 | c.41T>A (p.Leu14Gln)
| |
| 4 | g.46123877_46123879del | CA795333513 | GABRG1 | c.39_41del (p.Leu14del)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46123874G>A | CA439236989 | GABRG1 | c.40C>T (p.Leu14=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46123874G>C | CA356803833 | GABRG1 | c.40C>G (p.Leu14Val)
| |
| 4 | g.46123874G= | CA1454682655 | GABRG1 | c.40C= (p.Leu14=)
| |
| 4 | g.46123874G>T | CA2906485 | GABRG1 | c.40C>A (p.Leu14Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123875A>C | CA439236990 | GABRG1 | c.39T>G (p.Leu13=)
| |
| 4 | g.46123875A>G | CA439236991 | GABRG1 | c.39T>C (p.Leu13=)
| |
| 4 | g.46123875A>T | CA439236992 | GABRG1 | c.39T>A (p.Leu13=)
| |
| 4 | g.46123876A>C | CA356803839 | GABRG1 | c.38T>G (p.Leu13Arg)
| |
| 4 | g.46123876A>G | CA356803836 | GABRG1 | c.38T>C (p.Leu13Pro)
| |
| 4 | g.46123876A>T | CA356803837 | GABRG1 | c.38T>A (p.Leu13His)
| |
| 4 | g.46123877G>A | CA2906486 | GABRG1 | c.37C>T (p.Leu13Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123877G>C | CA2906488 | GABRG1 | c.37C>G (p.Leu13Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123877G= | CA1454682656 | GABRG1 | c.37C= (p.Leu13=)
| |
| 4 | g.46123877G>T | CA2906487 | GABRG1 | c.37C>A (p.Leu13Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46123878A= | CA1454682657 | GABRG1 | c.36T= (p.Phe12=)
| |
| 4 | g.46123878A>C | CA356803844 | GABRG1 | c.36T>G (p.Phe12Leu)
| |
| 4 | g.46123878A>G | CA2906489 | GABRG1 | c.36T>C (p.Phe12=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46123878A>T | CA356803847 | GABRG1 | c.36T>A (p.Phe12Leu)
| |
| 4 | g.46123879A>C | CA356803849 | GABRG1 | c.35T>G (p.Phe12Cys)
| |
| 4 | g.46123879A>G | CA356803851 | GABRG1 | c.35T>C (p.Phe12Ser)
| |
| 4 | g.46123879A>T | CA356803853 | GABRG1 | c.35T>A (p.Phe12Tyr)
| |
| 4 | g.46123880A>C | CA356803856 | GABRG1 | c.34T>G (p.Phe12Val)
| |
| 4 | g.46123880A>G | CA356803858 | GABRG1 | c.34T>C (p.Phe12Leu)
| |
| 4 | g.46123880A>T | CA356803864 | GABRG1 | c.34T>A (p.Phe12Ile)
| |
| 4 | g.46123881A>C | CA439236993 | GABRG1 | c.33T>G (p.Pro11=)
| |
| 4 | g.46123881A>G | CA439236994 | GABRG1 | c.33T>C (p.Pro11=)
| |
| 4 | g.46123881A>T | CA439236995 | GABRG1 | c.33T>A (p.Pro11=)
| |
| 4 | g.46123882G>A | CA174865 | GABRG1 | c.32C>T (p.Pro11Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.46123882G>C | CA356803868 | GABRG1 | c.32C>G (p.Pro11Arg)
| |
| 4 | g.46123882G= | CA1454682658 | GABRG1 | c.32C= (p.Pro11=)
| |
| 4 | g.46123882G>T | CA356803866 | GABRG1 | c.32C>A (p.Pro11His)
| |
