Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.33443515C>A | CA408634509 | SNTA1 | c.106G>T (p.Ala36Ser) n.339G>T | gnomAD v4 |
20 | g.33443515C>G | CA408634510 | SNTA1 | c.106G>C (p.Ala36Pro) n.339G>C | |
20 | g.33443515C>T | CA408634511 | SNTA1 | c.106G>A (p.Ala36Thr) n.339G>A | gnomAD v4 |
20 | g.33443516del | CA2652478396 | SNTA1 | c.106del (p.Ala36ArgfsTer5) n.339del | gnomAD v4 |
20 | g.33443516C>A | CA510470616 | SNTA1 | c.105G>T (p.Leu35=) n.338G>T | gnomAD v4 |
20 | g.33443516C>G | CA510470617 | SNTA1 | c.105G>C (p.Leu35=) n.338G>C | |
20 | g.33443516C>T | CA510470618 | SNTA1 | c.105G>A (p.Leu35=) n.338G>A | gnomAD v4 |
20 | g.33443517A>C | CA408634512 | SNTA1 | c.104T>G (p.Leu35Arg) n.337T>G | |
20 | g.33443517A>G | CA408634513 | SNTA1 | c.104T>C (p.Leu35Pro) n.337T>C | gnomAD v4 |
20 | g.33443517A>T | CA408634514 | SNTA1 | c.104T>A (p.Leu35Gln) n.337T>A | |
20 | g.33443518G>A | CA510470619 | SNTA1 | c.103C>T (p.Leu35=) n.336C>T | dbSNP gnomAD v4 |
20 | g.33443518G>C | CA408634515 | SNTA1 | c.103C>G (p.Leu35Val) n.336C>G | |
20 | g.33443518G= | CA2360754988 | SNTA1 | c.103C= (p.Leu35=) n.336C= | |
20 | g.33443518G>T | CA408634517 | SNTA1 | c.103C>A (p.Leu35Met) n.336C>A | gnomAD v4 |
20 | g.33443519A>C | CA408634519 | SNTA1 | c.102T>G (p.Ser34Arg) n.335T>G | |
20 | g.33443519A>G | CA510470620 | SNTA1 | c.102T>C (p.Ser34=) n.335T>C | gnomAD v4 |
20 | g.33443519A>T | CA408634521 | SNTA1 | c.102T>A (p.Ser34Arg) n.335T>A | |
20 | g.33443520C>A | CA408634522 | SNTA1 | c.101G>T (p.Ser34Ile) n.334G>T | gnomAD v4 |
20 | g.33443520C= | CA2360754989 | SNTA1 | c.101G= (p.Ser34=) n.334G= | |
20 | g.33443520C>G | CA408634524 | SNTA1 | c.101G>C (p.Ser34Thr) n.334G>C | |
20 | g.33443520C>T | CA313279110 | SNTA1 | c.101G>A (p.Ser34Asn) n.334G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443521T>A | CA408634527 | SNTA1 | c.100A>T (p.Ser34Cys) n.333A>T | gnomAD v4 |
20 | g.33443521T>C | CA408634529 | SNTA1 | c.100A>G (p.Ser34Gly) n.333A>G | gnomAD v4 |
20 | g.33443521T>G | CA408634531 | SNTA1 | c.100A>C (p.Ser34Arg) n.333A>C | |
20 | g.33443522C>A | CA510470624 | SNTA1 | c.99G>T (p.Leu33=) n.332G>T | gnomAD v4 |
20 | g.33443522C>G | CA510470625 | SNTA1 | c.99G>C (p.Leu33=) n.332G>C | gnomAD v4 |
20 | g.33443522C>T | CA510470626 | SNTA1 | c.99G>A (p.Leu33=) n.332G>A | |
20 | g.33443527_33443529dup | CA2652478397 | SNTA1 | c.97_99dup (p.Leu33_Ser34insLeu) n.330_332dup | gnomAD v4 |
20 | g.33443523A>C | CA408634533 | SNTA1 | c.98T>G (p.Leu33Arg) n.331T>G | gnomAD v4 |
20 | g.33443523A>G | CA408634534 | SNTA1 | c.98T>C (p.Leu33Pro) n.331T>C | ClinVar gnomAD v4 |
20 | g.33443523A>T | CA408634535 | SNTA1 | c.98T>A (p.Leu33Gln) n.331T>A | |
20 | g.33443524G>A | CA510470627 | SNTA1 | c.97C>T (p.Leu33=) n.330C>T | gnomAD v4 |
20 | g.33443524G>C | CA408634536 | SNTA1 | c.97C>G (p.Leu33Val) n.330C>G | gnomAD v4 |
20 | g.33443524G>T | CA408634537 | SNTA1 | c.97C>A (p.Leu33Met) n.330C>A | gnomAD v4 |
20 | g.33443525del | CA2652478398 | SNTA1 | c.96del (p.Leu33Ter) n.329del | gnomAD v4 |
20 | g.33443525C>A | CA510470628 | SNTA1 | c.96G>T (p.Leu32=) n.329G>T | gnomAD v4 |
20 | g.33443525C>G | CA510470629 | SNTA1 | c.96G>C (p.Leu32=) n.329G>C | |
20 | g.33443525C>T | CA510470630 | SNTA1 | c.96G>A (p.Leu32=) n.329G>A | gnomAD v4 |
20 | g.33443525_33443526del | CA2652478399 | SNTA1 | c.95_96del (p.Leu32ProfsTer?) n.328_329del | gnomAD v4 |
20 | g.33443526A>C | CA408634539 | SNTA1 | c.95T>G (p.Leu32Arg) n.328T>G | |
20 | g.33443526A>G | CA408634542 | SNTA1 | c.95T>C (p.Leu32Pro) n.328T>C | gnomAD v4 |
20 | g.33443526A>T | CA408634541 | SNTA1 | c.95T>A (p.Leu32Gln) n.328T>A | |
20 | g.33443527G>A | CA510470631 | SNTA1 | c.94C>T (p.Leu32=) n.327C>T | dbSNP gnomAD v4 |
20 | g.33443527G>C | CA408634544 | SNTA1 | c.94C>G (p.Leu32Val) n.327C>G | gnomAD v4 |
20 | g.33443527G= | CA2360754990 | SNTA1 | c.94C= (p.Leu32=) n.327C= | |
20 | g.33443527G>T | CA313279111 | SNTA1 | c.94C>A (p.Leu32Met) n.327C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443528C>A | CA510470632 | SNTA1 | c.93G>T (p.Val31=) n.326G>T | gnomAD v4 |
20 | g.33443528C>G | CA510470633 | SNTA1 | c.93G>C (p.Val31=) n.326G>C | |
20 | g.33443528C>T | CA510470634 | SNTA1 | c.93G>A (p.Val31=) n.326G>A | gnomAD v4 |
20 | g.33443529A>C | CA408634547 | SNTA1 | c.92T>G (p.Val31Gly) n.325T>G | |
20 | g.33443529A>G | CA408634549 | SNTA1 | c.92T>C (p.Val31Ala) n.325T>C | gnomAD v4 |
20 | g.33443529A>T | CA408634551 | SNTA1 | c.92T>A (p.Val31Glu) n.325T>A | gnomAD v4 |
20 | g.33443530C>A | CA408634553 | SNTA1 | c.91G>T (p.Val31Leu) n.324G>T | gnomAD v4 |
20 | g.33443530C>G | CA408634555 | SNTA1 | c.91G>C (p.Val31Leu) n.324G>C | gnomAD v4 |
20 | g.33443530C>T | CA408634557 | SNTA1 | c.91G>A (p.Val31Met) n.324G>A | gnomAD v4 |
20 | g.33443532del | CA2652478400 | SNTA1 | c.91del (p.Val31CysfsTer3) n.324del | gnomAD v4 |
20 | g.33443531C>A | CA510470636 | SNTA1 | c.90G>T (p.Arg30=) n.323G>T | dbSNP gnomAD v4 |
20 | g.33443531C>G | CA510470637 | SNTA1 | c.90G>C (p.Arg30=) n.323G>C | |
20 | g.33443531C>T | CA510470638 | SNTA1 | c.90G>A (p.Arg30=) n.323G>A | gnomAD v4 |
20 | g.33443532C>A | CA408634559 | SNTA1 | c.89G>T (p.Arg30Leu) n.322G>T | gnomAD v4 |
20 | g.33443532C>G | CA408634561 | SNTA1 | c.89G>C (p.Arg30Pro) n.322G>C | gnomAD v4 |
20 | g.33443532C>T | CA408634563 | SNTA1 | c.89G>A (p.Arg30Gln) n.322G>A | ClinVar gnomAD v4 |
20 | g.33443535_33443547del | CA2652478401 | SNTA1 | c.77_89del (p.Glu26GlyfsTer4) n.310_322del | gnomAD v4 |
20 | g.33443533G>A | CA408634566 | SNTA1 | c.88C>T (p.Arg30Trp) n.321C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443533G>C | CA408634564 | SNTA1 | c.88C>G (p.Arg30Gly) n.321C>G | gnomAD v4 |
20 | g.33443533G= | CA2360754991 | SNTA1 | c.88C= (p.Arg30=) n.321C= | |
20 | g.33443533G>T | CA510470648 | SNTA1 | c.88C>A (p.Arg30=) n.321C>A | gnomAD v4 |
20 | g.33443534C>A | CA408634567 | SNTA1 | c.87G>T (p.Gln29His) n.320G>T | gnomAD v4 |
20 | g.33443534C>G | CA408634569 | SNTA1 | c.87G>C (p.Gln29His) n.320G>C | |
20 | g.33443534C>T | CA510470649 | SNTA1 | c.87G>A (p.Gln29=) n.320G>A | gnomAD v4 |
20 | g.33443535T>A | CA408634572 | SNTA1 | c.86A>T (p.Gln29Leu) n.319A>T | |
20 | g.33443535T>C | CA408634573 | SNTA1 | c.86A>G (p.Gln29Arg) n.319A>G | gnomAD v4 |
20 | g.33443535T>G | CA408634575 | SNTA1 | c.86A>C (p.Gln29Pro) n.319A>C | |
20 | g.33443536G>A | CA408634581 | SNTA1 | c.85C>T (p.Gln29Ter) n.318C>T | gnomAD v4 |
20 | g.33443536G>C | CA408634580 | SNTA1 | c.85C>G (p.Gln29Glu) n.318C>G | gnomAD v4 |
20 | g.33443536G>T | CA408634577 | SNTA1 | c.85C>A (p.Gln29Lys) n.318C>A | gnomAD v4 |
20 | g.33443542_33443621del | CA2652478402 | SNTA1 | c.6_85del (p.Ser3AlafsTer?) n.239_318del | gnomAD v4 |
20 | g.33443537C>A | CA408634583 | SNTA1 | c.84G>T (p.Trp28Cys) n.317G>T | gnomAD v4 |
20 | g.33443537C>G | CA408634585 | SNTA1 | c.84G>C (p.Trp28Cys) n.317G>C | gnomAD v4 |
20 | g.33443537C>T | CA408634587 | SNTA1 | c.84G>A (p.Trp28Ter) n.317G>A | gnomAD v4 |
20 | g.33443538del | CA2652478403 | SNTA1 | c.84del (p.Trp28CysfsTer6) n.317del | gnomAD v4 |
20 | g.33443538C>A | CA408634589 | SNTA1 | c.83G>T (p.Trp28Leu) n.316G>T | dbSNP gnomAD v4 |
20 | g.33443538C= | CA2360754992 | SNTA1 | c.83G= (p.Trp28=) n.316G= | |
20 | g.33443538C>G | CA408634591 | SNTA1 | c.83G>C (p.Trp28Ser) n.316G>C | gnomAD v4 |
20 | g.33443538C>T | CA408634593 | SNTA1 | c.83G>A (p.Trp28Ter) n.316G>A | gnomAD v4 |
20 | g.33443539A= | CA2360754993 | SNTA1 | c.82T= (p.Trp28=) n.315T= | |
20 | g.33443539A>C | CA408634600 | SNTA1 | c.82T>G (p.Trp28Gly) n.315T>G | |
20 | g.33443539A>G | CA408634595 | SNTA1 | c.82T>C (p.Trp28Arg) n.315T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443539A>T | CA408634598 | SNTA1 | c.82T>A (p.Trp28Arg) n.315T>A | dbSNP gnomAD v4 |
20 | g.33443540T>A | CA510470658 | SNTA1 | c.81A>T (p.Arg27=) n.314A>T | gnomAD v4 |
20 | g.33443540T>C | CA510470654 | SNTA1 | c.81A>G (p.Arg27=) n.314A>G | gnomAD v4 |
20 | g.33443540T>G | CA510470656 | SNTA1 | c.81A>C (p.Arg27=) n.314A>C | |
20 | g.33443540_33443541insTTTCCAAGTTATTAG | CA2816180531 | SNTA1 | c.80_81insCTAATAACTTGGAAA (p.Arg28Ter) n.313_314insCTAATAACTTGGAAA | |
20 | g.33443541C>A | CA408634602 | SNTA1 | c.80G>T (p.Arg27Leu) n.313G>T | gnomAD v4 |
20 | g.33443541C>G | CA408634604 | SNTA1 | c.80G>C (p.Arg27Pro) n.313G>C | gnomAD v4 |
20 | g.33443541C>T | CA408634606 | SNTA1 | c.80G>A (p.Arg27Gln) n.313G>A | gnomAD v4 |
20 | g.33443542G>A | CA408634607 | SNTA1 | c.79C>T (p.Arg27Ter) n.312C>T | gnomAD v4 |
20 | g.33443542G>C | CA408634609 | SNTA1 | c.79C>G (p.Arg27Gly) n.312C>G | gnomAD v4 |
20 | g.33443542G>T | CA510470659 | SNTA1 | c.79C>A (p.Arg27=) n.312C>A | gnomAD v4 |
20 | g.33443543C>A | CA408634611 | SNTA1 | c.78G>T (p.Glu26Asp) n.311G>T | gnomAD v4 |
20 | g.33443543C>G | CA408634612 | SNTA1 | c.78G>C (p.Glu26Asp) n.311G>C | gnomAD v4 |
20 | g.33443543C>T | CA510470660 | SNTA1 | c.78G>A (p.Glu26=) n.311G>A | dbSNP gnomAD v4 |
20 | g.33443544T>A | CA408634614 | SNTA1 | c.77A>T (p.Glu26Val) n.310A>T | gnomAD v4 |
20 | g.33443544T>C | CA408634616 | SNTA1 | c.77A>G (p.Glu26Gly) n.310A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443544T>G | CA408634618 | SNTA1 | c.77A>C (p.Glu26Ala) n.310A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443544T= | CA2360754994 | SNTA1 | c.77A= (p.Glu26=) n.310A= | |
20 | g.33443544_33443546delinsTCG | CA2360754995 | SNTA1 | c.75_77delinsCGA (p.Gly25=) n.308_310delinsCGA | |
20 | g.33443545C>A | CA408634620 | SNTA1 | c.76G>T (p.Glu26Ter) n.309G>T | gnomAD v4 |
20 | g.33443545C>G | CA408634622 | SNTA1 | c.76G>C (p.Glu26Gln) n.309G>C | |
20 | g.33443545C>T | CA408634624 | SNTA1 | c.76G>A (p.Glu26Lys) n.309G>A | gnomAD v4 |
20 | g.33443546_33443547del | CA2360754996 | SNTA1 | c.75_76del (p.Glu26AlafsTer?) n.308_309del | dbSNP gnomAD v4 |
20 | g.33443550_33443552del | CA2652478404 | SNTA1 | c.74_76del (p.Gly25del) n.307_309del | gnomAD v4 |
20 | g.33443546G>A | CA510470664 | SNTA1 | c.75C>T (p.Gly25=) n.308C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443546G>C | CA510470666 | SNTA1 | c.75C>G (p.Gly25=) n.308C>G | gnomAD v4 |
20 | g.33443546G= | CA2360754997 | SNTA1 | c.75C= (p.Gly25=) n.308C= | |
20 | g.33443546G>T | CA510470665 | SNTA1 | c.75C>A (p.Gly25=) n.308C>A | gnomAD v4 |
20 | g.33443547C>A | CA408634626 | SNTA1 | c.74G>T (p.Gly25Val) n.307G>T | gnomAD v4 |
20 | g.33443547C>G | CA408634630 | SNTA1 | c.74G>C (p.Gly25Ala) n.307G>C | gnomAD v4 |
20 | g.33443547C>T | CA408634628 | SNTA1 | c.74G>A (p.Gly25Asp) n.307G>A | gnomAD v4 |
20 | g.33443548C>A | CA408634632 | SNTA1 | c.73G>T (p.Gly25Cys) n.306G>T | gnomAD v4 |
20 | g.33443548C= | CA2360754998 | SNTA1 | c.73G= (p.Gly25=) n.306G= | |
20 | g.33443548C>G | CA408634633 | SNTA1 | c.73G>C (p.Gly25Arg) n.306G>C | |
20 | g.33443548C>T | CA313279112 | SNTA1 | c.73G>A (p.Gly25Ser) n.306G>A | dbSNP gnomAD v4 |
20 | g.33443549G>A | CA510470668 | SNTA1 | c.72C>T (p.Gly24=) n.305C>T | gnomAD v4 |
20 | g.33443549G>C | CA510470669 | SNTA1 | c.72C>G (p.Gly24=) n.305C>G | gnomAD v4 |
20 | g.33443549G>T | CA510470670 | SNTA1 | c.72C>A (p.Gly24=) n.305C>A | gnomAD v4 |
20 | g.33443550C>A | CA408634636 | SNTA1 | c.71G>T (p.Gly24Val) n.304G>T | dbSNP gnomAD v4 |
20 | g.33443550C= | CA2360754999 | SNTA1 | c.71G= (p.Gly24=) n.304G= | |
20 | g.33443550C>G | CA408634637 | SNTA1 | c.71G>C (p.Gly24Ala) n.304G>C | gnomAD v4 |
20 | g.33443550C>T | CA408634639 | SNTA1 | c.71G>A (p.Gly24Asp) n.304G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443551C>A | CA408634642 | SNTA1 | c.70G>T (p.Gly24Cys) n.303G>T | gnomAD v4 |
20 | g.33443551C= | CA2360755000 | SNTA1 | c.70G= (p.Gly24=) n.303G= | |
20 | g.33443551C>G | CA408634643 | SNTA1 | c.70G>C (p.Gly24Arg) n.303G>C | gnomAD v4 |
20 | g.33443551C>T | CA302324 | SNTA1 | c.70G>A (p.Gly24Ser) n.303G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443552G>A | CA510470672 | SNTA1 | c.69C>T (p.Ala23=) n.302C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443552G>C | CA510470673 | SNTA1 | c.69C>G (p.Ala23=) n.302C>G | gnomAD v4 |
20 | g.33443552G= | CA2360755001 | SNTA1 | c.69C= (p.Ala23=) n.302C= | |
20 | g.33443552G>T | CA510470674 | SNTA1 | c.69C>A (p.Ala23=) n.302C>A | gnomAD v4 |
20 | g.33443553del | CA2652478405 | SNTA1 | c.69del (p.Gly24AlafsTer10) n.302del | gnomAD v4 |
20 | g.33443553G>A | CA408634647 | SNTA1 | c.68C>T (p.Ala23Val) n.301C>T | gnomAD v4 |
20 | g.33443553G>C | CA408634649 | SNTA1 | c.68C>G (p.Ala23Gly) n.301C>G | gnomAD v4 |
20 | g.33443553G>T | CA408634651 | SNTA1 | c.68C>A (p.Ala23Asp) n.301C>A | gnomAD v4 |
20 | g.33443553_33443554delinsGC | CA2360755002 | SNTA1 | c.67_68delinsGC (p.Ala23=) n.300_301delinsGC | |
20 | g.33443558_33443569dup | CA2652478407 | SNTA1 | c.57_68dup (p.Ala23_Gly24insGlySerGlyAla) n.290_301dup | gnomAD v4 |
20 | g.33443558_33443569del | CA2652478406 | SNTA1 | c.57_68del (p.Gly20_Ala23del) n.290_301del | gnomAD v4 |
20 | g.33443554C>A | CA408634657 | SNTA1 | c.67G>T (p.Ala23Ser) n.300G>T | ClinVar gnomAD v4 |
20 | g.33443554C>G | CA408634655 | SNTA1 | c.67G>C (p.Ala23Pro) n.300G>C | gnomAD v4 |
20 | g.33443554C>T | CA408634653 | SNTA1 | c.67G>A (p.Ala23Thr) n.300G>A | gnomAD v4 |
20 | g.33443558dup | CA2652478408 | SNTA1 | c.67dup (p.Ala23GlyfsTer?) n.300dup | gnomAD v4 |
20 | g.33443558del | CA635719599 | SNTA1 | c.67del (p.Ala23ProfsTer11) n.300del | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443557_33443558del | CA2652478409 | SNTA1 | c.66_67del (p.Ala23ArgfsTer?) n.299_300del | gnomAD v4 |
20 | g.33443555C>A | CA510470675 | SNTA1 | c.66G>T (p.Gly22=) n.299G>T | gnomAD v4 |
20 | g.33443555C>G | CA510470676 | SNTA1 | c.66G>C (p.Gly22=) n.299G>C | gnomAD v4 |
20 | g.33443555C>T | CA510470678 | SNTA1 | c.66G>A (p.Gly22=) n.299G>A | gnomAD v4 |
20 | g.33443556C>A | CA408634659 | SNTA1 | c.65G>T (p.Gly22Val) n.298G>T | gnomAD v4 |
20 | g.33443556C= | CA2360755003 | SNTA1 | c.65G= (p.Gly22=) n.298G= | |
20 | g.33443556C>G | CA408634660 | SNTA1 | c.65G>C (p.Gly22Ala) n.298G>C | gnomAD v4 |
20 | g.33443556C>T | CA408634662 | SNTA1 | c.65G>A (p.Gly22Glu) n.298G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443557C>A | CA408634663 | SNTA1 | c.64G>T (p.Gly22Trp) n.297G>T | gnomAD v4 |
20 | g.33443557C= | CA2360755004 | SNTA1 | c.64G= (p.Gly22=) n.297G= | |
20 | g.33443557C>G | CA408634665 | SNTA1 | c.64G>C (p.Gly22Arg) n.297G>C | gnomAD v4 |
20 | g.33443557C>T | CA313279134 | SNTA1 | c.64G>A (p.Gly22Arg) n.297G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443565_33443636del | CA2652478410 | SNTA1 | c.-8_64del n.226_297del | gnomAD v4 |
20 | g.33443558C>A | CA510470679 | SNTA1 | c.63G>T (p.Ser21=) n.296G>T | gnomAD v4 |
20 | g.33443558C>G | CA510470680 | SNTA1 | c.63G>C (p.Ser21=) n.296G>C | gnomAD v4 |
20 | g.33443558C>T | CA510470682 | SNTA1 | c.63G>A (p.Ser21=) n.296G>A | gnomAD v4 |
20 | g.33443558_33443559del | CA2652478411 | SNTA1 | c.62_63del (p.Ser21TrpfsTer?) n.295_296del | gnomAD v4 |
20 | g.33443559G>A | CA313279141 | SNTA1 | c.62C>T (p.Ser21Leu) n.295C>T | ClinVar dbSNP gnomAD v4 |
20 | g.33443559G>C | CA408634667 | SNTA1 | c.62C>G (p.Ser21Trp) n.295C>G | |
20 | g.33443559G= | CA2360755005 | SNTA1 | c.62C= (p.Ser21=) n.295C= | |
20 | g.33443559G>T | CA408634669 | SNTA1 | c.62C>A (p.Ser21Ter) n.295C>A | gnomAD v4 |
20 | g.33443560A= | CA2360755006 | SNTA1 | c.61T= (p.Ser21=) n.294T= | |
20 | g.33443560A>C | CA408634671 | SNTA1 | c.61T>G (p.Ser21Ala) n.294T>G | |
20 | g.33443560A>G | CA408634673 | SNTA1 | c.61T>C (p.Ser21Pro) n.294T>C | dbSNP gnomAD v4 |
20 | g.33443560A>T | CA408634675 | SNTA1 | c.61T>A (p.Ser21Thr) n.294T>A | |
20 | g.33443561G>A | CA510470685 | SNTA1 | c.60C>T (p.Gly20=) n.293C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443561G>C | CA510470686 | SNTA1 | c.60C>G (p.Gly20=) n.293C>G | gnomAD v4 |
20 | g.33443561G= | CA2360755007 | SNTA1 | c.60C= (p.Gly20=) n.293C= | |
20 | g.33443561G>T | CA510470687 | SNTA1 | c.60C>A (p.Gly20=) n.293C>A | gnomAD v4 |
20 | g.33443564_33443643del | CA2652478412 | SNTA1 | c.-20_60del n.214_293del | gnomAD v4 |
20 | g.33443562C>A | CA408634681 | SNTA1 | c.59G>T (p.Gly20Val) n.292G>T | gnomAD v4 |
20 | g.33443562C>G | CA408634679 | SNTA1 | c.59G>C (p.Gly20Ala) n.292G>C | gnomAD v4 |
20 | g.33443562C>T | CA408634677 | SNTA1 | c.59G>A (p.Gly20Asp) n.292G>A | gnomAD v4 |
20 | g.33443564del | CA2652478413 | SNTA1 | c.59del (p.Gly20AlafsTer14) n.292del | gnomAD v4 |
20 | g.33443563C>A | CA408634682 | SNTA1 | c.58G>T (p.Gly20Cys) n.291G>T | gnomAD v4 |
20 | g.33443563C>G | CA408634686 | SNTA1 | c.58G>C (p.Gly20Arg) n.291G>C | |
20 | g.33443563C>T | CA408634684 | SNTA1 | c.58G>A (p.Gly20Ser) n.291G>A | gnomAD v4 |
20 | g.33443568_33443646del | CA2652478414 | SNTA1 | c.-21_58del n.213_291del | gnomAD v4 |
20 | g.33443564C>A | CA510470689 | SNTA1 | c.57G>T (p.Ala19=) n.290G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443564C= | CA2360755008 | SNTA1 | c.57G= (p.Ala19=) n.290G= | |
20 | g.33443564C>G | CA510470690 | SNTA1 | c.57G>C (p.Ala19=) n.290G>C | |
20 | g.33443564C>T | CA510470691 | SNTA1 | c.57G>A (p.Ala19=) n.290G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443565del | CA2652478415 | SNTA1 | c.56del (p.Ala19GlyfsTer15) n.289del | gnomAD v4 |
20 | g.33443565G>A | CA408634688 | SNTA1 | c.56C>T (p.Ala19Val) n.289C>T | dbSNP gnomAD v4 |
20 | g.33443565G>C | CA408634692 | SNTA1 | c.56C>G (p.Ala19Gly) n.289C>G | gnomAD v4 |
20 | g.33443565G>T | CA408634690 | SNTA1 | c.56C>A (p.Ala19Glu) n.289C>A | gnomAD v4 |
20 | g.33443565_33443566insT | CA2652478416 | SNTA1 | c.55_56insA (p.Ala19AspfsTer?) n.288_289insA | gnomAD v4 |
20 | g.33443566C>A | CA408634694 | SNTA1 | c.55G>T (p.Ala19Ser) n.288G>T | gnomAD v4 |
20 | g.33443566C>G | CA408634697 | SNTA1 | c.55G>C (p.Ala19Pro) n.288G>C | gnomAD v4 |
20 | g.33443566C>T | CA408634695 | SNTA1 | c.55G>A (p.Ala19Thr) n.288G>A | gnomAD v4 |
20 | g.33443569dup | CA2816180532 | SNTA1 | c.55dup (p.Ala19GlyfsTer?) n.288dup | |
20 | g.33443569del | CA2545982597 | SNTA1 | c.55del (p.Ala19ArgfsTer15) n.288del | gnomAD v4 |
20 | g.33443566_33443587delinsCCCCGGCGCGCAGCTCCAGCAG | CA2360755009 | SNTA1 | c.34_55delinsCTGCTGGAGCTGCGCGCCGGGG (p.Leu12=) n.267_288delinsCTGCTGGAGCTGCGCGCCGGGG | |
20 | g.33443567C>A | CA510470695 | SNTA1 | c.54G>T (p.Gly18=) n.287G>T | gnomAD v4 |
20 | g.33443567C>G | CA510470694 | SNTA1 | c.54G>C (p.Gly18=) n.287G>C | |
20 | g.33443567C>T | CA510470693 | SNTA1 | c.54G>A (p.Gly18=) n.287G>A | ClinVar dbSNP gnomAD v4 |
20 | g.33443572_33443592del | CA635719600 | SNTA1 | c.34_54del (p.Leu12_Gly18del) n.267_287del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443568C>A | CA408634699 | SNTA1 | c.53G>T (p.Gly18Val) n.286G>T | gnomAD v4 |
20 | g.33443568C= | CA2360755010 | SNTA1 | c.53G= (p.Gly18=) n.286G= | |
20 | g.33443568C>G | CA313279142 | SNTA1 | c.53G>C (p.Gly18Ala) n.286G>C | dbSNP |
20 | g.33443568C>T | CA408634700 | SNTA1 | c.53G>A (p.Gly18Glu) n.286G>A | gnomAD v4 |
20 | g.33443569C>A | CA408634703 | SNTA1 | c.52G>T (p.Gly18Trp) n.285G>T | dbSNP gnomAD v4 |
20 | g.33443569C= | CA2360755011 | SNTA1 | c.52G= (p.Gly18=) n.285G= | |
20 | g.33443569C>G | CA408634707 | SNTA1 | c.52G>C (p.Gly18Arg) n.285G>C | gnomAD v4 |
20 | g.33443569C>T | CA408634708 | SNTA1 | c.52G>A (p.Gly18Arg) n.285G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443570G>A | CA510470697 | SNTA1 | c.51C>T (p.Ala17=) n.284C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443570G>C | CA510470698 | SNTA1 | c.51C>G (p.Ala17=) n.284C>G | gnomAD v4 |
20 | g.33443570G= | CA2360755012 | SNTA1 | c.51C= (p.Ala17=) n.284C= | |
20 | g.33443570G>T | CA510470699 | SNTA1 | c.51C>A (p.Ala17=) n.284C>A | gnomAD v4 |
20 | g.33443571G>A | CA408634710 | SNTA1 | c.50C>T (p.Ala17Val) n.283C>T | dbSNP gnomAD v4 |
20 | g.33443571G>C | CA408634712 | SNTA1 | c.50C>G (p.Ala17Gly) n.283C>G | gnomAD v4 |
20 | g.33443571G= | CA2360755013 | SNTA1 | c.50C= (p.Ala17=) n.283C= | |
20 | g.33443571G>T | CA408634713 | SNTA1 | c.50C>A (p.Ala17Asp) n.283C>A | gnomAD v4 |
20 | g.33443572C>A | CA408634714 | SNTA1 | c.49G>T (p.Ala17Ser) n.282G>T | gnomAD v4 |
20 | g.33443572C= | CA2360755014 | SNTA1 | c.49G= (p.Ala17=) n.282G= | |
20 | g.33443572C>G | CA408634716 | SNTA1 | c.49G>C (p.Ala17Pro) n.282G>C | gnomAD v4 |
20 | g.33443572C>T | CA408634718 | SNTA1 | c.49G>A (p.Ala17Thr) n.282G>A | ClinVar dbSNP gnomAD v4 |
20 | g.33443573G>A | CA510470702 | SNTA1 | c.48C>T (p.Arg16=) n.281C>T | gnomAD v4 |
20 | g.33443573G>C | CA510470704 | SNTA1 | c.48C>G (p.Arg16=) n.281C>G | gnomAD v4 |
20 | g.33443573G>T | CA510470703 | SNTA1 | c.48C>A (p.Arg16=) n.281C>A | gnomAD v4 |
20 | g.33443574C>A | CA408634724 | SNTA1 | c.47G>T (p.Arg16Leu) n.280G>T | gnomAD v4 |
20 | g.33443574C= | CA2360755015 | SNTA1 | c.47G= (p.Arg16=) n.280G= | |
20 | g.33443574C>G | CA408634722 | SNTA1 | c.47G>C (p.Arg16Pro) n.280G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443574C>T | CA408634720 | SNTA1 | c.47G>A (p.Arg16His) n.280G>A | gnomAD v4 |
20 | g.33443575G>A | CA408634726 | SNTA1 | c.46C>T (p.Arg16Cys) n.279C>T | gnomAD v4 |
20 | g.33443575G>C | CA408634727 | SNTA1 | c.46C>G (p.Arg16Gly) n.279C>G | gnomAD v4 |
20 | g.33443575G>T | CA408634729 | SNTA1 | c.46C>A (p.Arg16Ser) n.279C>A | gnomAD v4 |
20 | g.33443576C>A | CA510470706 | SNTA1 | c.45G>T (p.Leu15=) n.278G>T | gnomAD v4 |
20 | g.33443576C>G | CA510470708 | SNTA1 | c.45G>C (p.Leu15=) n.278G>C | gnomAD v4 |
20 | g.33443576C>T | CA510470709 | SNTA1 | c.45G>A (p.Leu15=) n.278G>A | gnomAD v4 |
20 | g.33443577A>C | CA408634731 | SNTA1 | c.44T>G (p.Leu15Arg) n.277T>G | |
20 | g.33443577A>G | CA408634733 | SNTA1 | c.44T>C (p.Leu15Pro) n.277T>C | gnomAD v4 |
20 | g.33443577A>T | CA408634735 | SNTA1 | c.44T>A (p.Leu15Gln) n.277T>A | |
20 | g.33443578del | CA2652478417 | SNTA1 | c.43del (p.Leu15CysfsTer19) n.276del | gnomAD v4 |
20 | g.33443578G>A | CA510470711 | SNTA1 | c.43C>T (p.Leu15=) n.276C>T | gnomAD v4 |
20 | g.33443578G>C | CA408634736 | SNTA1 | c.43C>G (p.Leu15Val) n.276C>G | gnomAD v4 |
20 | g.33443578G>T | CA408634738 | SNTA1 | c.43C>A (p.Leu15Met) n.276C>A | gnomAD v4 |
20 | g.33443579C>A | CA408634740 | SNTA1 | c.42G>T (p.Glu14Asp) n.275G>T | gnomAD v4 |
20 | g.33443579C= | CA2360755016 | SNTA1 | c.42G= (p.Glu14=) n.275G= | |
20 | g.33443579C>G | CA408634742 | SNTA1 | c.42G>C (p.Glu14Asp) n.275G>C | dbSNP gnomAD v4 |
20 | g.33443579C>T | CA510470712 | SNTA1 | c.42G>A (p.Glu14=) n.275G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443580T>A | CA408634743 | SNTA1 | c.41A>T (p.Glu14Val) n.274A>T | gnomAD v4 |
20 | g.33443580T>C | CA408634745 | SNTA1 | c.41A>G (p.Glu14Gly) n.274A>G | gnomAD v4 |
20 | g.33443580T>G | CA408634747 | SNTA1 | c.41A>C (p.Glu14Ala) n.274A>C | |
20 | g.33443581C>A | CA408634751 | SNTA1 | c.40G>T (p.Glu14Ter) n.273G>T | gnomAD v4 |
20 | g.33443581C= | CA2360755017 | SNTA1 | c.40G= (p.Glu14=) n.273G= | |
20 | g.33443581C>G | CA408634752 | SNTA1 | c.40G>C (p.Glu14Gln) n.273G>C | gnomAD v4 |
20 | g.33443581C>T | CA302321 | SNTA1 | c.40G>A (p.Glu14Lys) n.273G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443582del | CA2652478418 | SNTA1 | c.40del (p.Glu14SerfsTer20) n.273del | gnomAD v4 |
20 | g.33443582C>A | CA510470716 | SNTA1 | c.39G>T (p.Leu13=) n.272G>T | gnomAD v4 |
20 | g.33443582C>G | CA510470717 | SNTA1 | c.39G>C (p.Leu13=) n.272G>C | gnomAD v4 |
20 | g.33443582C>T | CA510470718 | SNTA1 | c.39G>A (p.Leu13=) n.272G>A | gnomAD v4 |
20 | g.33443583A>C | CA408634754 | SNTA1 | c.38T>G (p.Leu13Arg) n.271T>G | gnomAD v4 |
20 | g.33443583A>G | CA408634756 | SNTA1 | c.38T>C (p.Leu13Pro) n.271T>C | gnomAD v4 |
20 | g.33443583A>T | CA408634758 | SNTA1 | c.38T>A (p.Leu13Gln) n.271T>A | gnomAD v4 |
20 | g.33443584G>A | CA510470720 | SNTA1 | c.37C>T (p.Leu13=) n.270C>T | gnomAD v4 |
20 | g.33443584G>C | CA408634760 | SNTA1 | c.37C>G (p.Leu13Val) n.270C>G | gnomAD v4 |
20 | g.33443584G>T | CA408634762 | SNTA1 | c.37C>A (p.Leu13Met) n.270C>A | gnomAD v4 |
20 | g.33443585C>A | CA510470723 | SNTA1 | c.36G>T (p.Leu12=) n.269G>T | dbSNP gnomAD v4 |
20 | g.33443585C= | CA2360755018 | SNTA1 | c.36G= (p.Leu12=) n.269G= | |
20 | g.33443585C>G | CA313279146 | SNTA1 | c.36G>C (p.Leu12=) n.269G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443585C>T | CA510470724 | SNTA1 | c.36G>A (p.Leu12=) n.269G>A | dbSNP gnomAD v4 |
20 | g.33443586A>C | CA408634764 | SNTA1 | c.35T>G (p.Leu12Arg) n.268T>G | |
20 | g.33443586A>G | CA408634766 | SNTA1 | c.35T>C (p.Leu12Pro) n.268T>C | gnomAD v4 |
20 | g.33443586A>T | CA408634768 | SNTA1 | c.35T>A (p.Leu12Gln) n.268T>A | |
20 | g.33443587G>A | CA510470725 | SNTA1 | c.34C>T (p.Leu12=) n.267C>T | ClinVar dbSNP gnomAD v4 |
20 | g.33443587G>C | CA408634769 | SNTA1 | c.34C>G (p.Leu12Val) n.267C>G | gnomAD v4 |
20 | g.33443587G>T | CA408634771 | SNTA1 | c.34C>A (p.Leu12Met) n.267C>A | gnomAD v4 |
20 | g.33443588C>A | CA510470729 | SNTA1 | c.33G>T (p.Gly11=) n.266G>T | gnomAD v4 |
20 | g.33443588C= | CA2360755019 | SNTA1 | c.33G= (p.Gly11=) n.266G= | |
20 | g.33443588C>G | CA510470726 | SNTA1 | c.33G>C (p.Gly11=) n.266G>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443588C>T | CA510470728 | SNTA1 | c.33G>A (p.Gly11=) n.266G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443590del | CA2652478419 | SNTA1 | c.33del (p.Leu12CysfsTer22) n.266del | gnomAD v4 |
20 | g.33443589C>A | CA408634776 | SNTA1 | c.32G>T (p.Gly11Val) n.265G>T | ClinVar gnomAD v4 |
20 | g.33443589C>G | CA408634775 | SNTA1 | c.32G>C (p.Gly11Ala) n.265G>C | ClinVar dbSNP |
20 | g.33443589C>T | CA408634774 | SNTA1 | c.32G>A (p.Gly11Glu) n.265G>A | gnomAD v4 |
20 | g.33443590C>A | CA408634779 | SNTA1 | c.31G>T (p.Gly11Trp) n.264G>T | dbSNP gnomAD v4 |
20 | g.33443590C= | CA2360755020 | SNTA1 | c.31G= (p.Gly11=) n.264G= | |
20 | g.33443590C>G | CA408634780 | SNTA1 | c.31G>C (p.Gly11Arg) n.264G>C | gnomAD v4 |
20 | g.33443590C>T | CA408634782 | SNTA1 | c.31G>A (p.Gly11Arg) n.264G>A | gnomAD v4 |
20 | g.33443591G>A | CA510470731 | SNTA1 | c.30C>T (p.Thr10=) n.263C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443591G>C | CA510470732 | SNTA1 | c.30C>G (p.Thr10=) n.263C>G | ClinVar gnomAD v4 |
20 | g.33443591G= | CA2360755021 | SNTA1 | c.30C= (p.Thr10=) n.263C= | |
20 | g.33443591G>T | CA510470733 | SNTA1 | c.30C>A (p.Thr10=) n.263C>A | gnomAD v4 |
20 | g.33443592G>A | CA408634785 | SNTA1 | c.29C>T (p.Thr10Ile) n.262C>T | gnomAD v4 |
20 | g.33443592G>C | CA408634786 | SNTA1 | c.29C>G (p.Thr10Ser) n.262C>G | |
20 | g.33443592G>T | CA408634787 | SNTA1 | c.29C>A (p.Thr10Asn) n.262C>A | gnomAD v4 |
20 | g.33443593_33443594del | CA2652478420 | SNTA1 | c.28_29del (p.Thr10ArgfsTer?) n.261_262del | gnomAD v4 |
20 | g.33443593T>A | CA408634789 | SNTA1 | c.28A>T (p.Thr10Ser) n.261A>T | |
20 | g.33443593T>C | CA408634791 | SNTA1 | c.28A>G (p.Thr10Ala) n.261A>G | gnomAD v4 |
20 | g.33443593T>G | CA408634792 | SNTA1 | c.28A>C (p.Thr10Pro) n.261A>C | dbSNP |
20 | g.33443593T= | CA2360755022 | SNTA1 | c.28A= (p.Thr10=) n.261A= | |
20 | g.33443594G>A | CA510470737 | SNTA1 | c.27C>T (p.Arg9=) n.260C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443594G>C | CA510470738 | SNTA1 | c.27C>G (p.Arg9=) n.260C>G | |
20 | g.33443594G= | CA2360755023 | SNTA1 | c.27C= (p.Arg9=) n.260C= | |
20 | g.33443594G>T | CA510470739 | SNTA1 | c.27C>A (p.Arg9=) n.260C>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443597_33443598del | CA2652478421 | SNTA1 | c.26_27del (p.Arg9HisfsTer?) n.259_260del | gnomAD v4 |
20 | g.33443595C>A | CA408634795 | SNTA1 | c.26G>T (p.Arg9Leu) n.259G>T | gnomAD v4 |
20 | g.33443595C= | CA2360755024 | SNTA1 | c.26G= (p.Arg9=) n.259G= | |
20 | g.33443595C>G | CA408634796 | SNTA1 | c.26G>C (p.Arg9Pro) n.259G>C | dbSNP |
20 | g.33443595C>T | CA408634798 | SNTA1 | c.26G>A (p.Arg9His) n.259G>A | gnomAD v4 |
20 | g.33443596G>A | CA10587924 | SNTA1 | c.25C>T (p.Arg9Cys) n.258C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443596G>C | CA408634802 | SNTA1 | c.25C>G (p.Arg9Gly) n.258C>G | gnomAD v4 |
20 | g.33443596G= | CA2360755025 | SNTA1 | c.25C= (p.Arg9=) n.258C= | |
20 | g.33443596G>T | CA408634799 | SNTA1 | c.25C>A (p.Arg9Ser) n.258C>A | gnomAD v4 |
20 | g.33443597_33443599del | CA2652478422 | SNTA1 | c.23_25del (p.Pro8del) n.256_258del | gnomAD v4 |
20 | g.33443597C>A | CA510470741 | SNTA1 | c.24G>T (p.Pro8=) n.257G>T | gnomAD v4 |
20 | g.33443597C>G | CA510470742 | SNTA1 | c.24G>C (p.Pro8=) n.257G>C | gnomAD v4 |
20 | g.33443597C>T | CA510470744 | SNTA1 | c.24G>A (p.Pro8=) n.257G>A | gnomAD v4 |
20 | g.33443597_33443598delinsCG | CA2360755026 | SNTA1 | c.23_24delinsCG (p.Pro8=) n.256_257delinsCG | |
20 | g.33443601_33443641del | CA2816180533 | SNTA1 | c.-17_24del n.217_257del | |
20 | g.33443598G>A | CA408634808 | SNTA1 | c.23C>T (p.Pro8Leu) n.256C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443598G>C | CA408634804 | SNTA1 | c.23C>G (p.Pro8Arg) n.256C>G | |
20 | g.33443598G= | CA2360755027 | SNTA1 | c.23C= (p.Pro8=) n.256C= | |
20 | g.33443598G>T | CA408634806 | SNTA1 | c.23C>A (p.Pro8Gln) n.256C>A | dbSNP gnomAD v4 |
20 | g.33443601dup | CA2652478423 | SNTA1 | c.23dup (p.Arg9AlafsTer?) n.256dup | gnomAD v4 |
20 | g.33443601del | CA920203189 | SNTA1 | c.23del (p.Pro8ArgfsTer26) n.256del | dbSNP gnomAD v4 |
20 | g.33443600_33443601del | CA2816180534 | SNTA1 | c.22_23del (p.Pro8AlafsTer?) n.255_256del | |
20 | g.33443599G>A | CA408634810 | SNTA1 | c.22C>T (p.Pro8Ser) n.255C>T | gnomAD v4 |
20 | g.33443599G>C | CA302237 | SNTA1 | c.22C>G (p.Pro8Ala) n.255C>G | ClinVar dbSNP gnomAD v4 |
20 | g.33443599G= | CA2360755028 | SNTA1 | c.22C= (p.Pro8=) n.255C= | |
20 | g.33443599G>T | CA408634812 | SNTA1 | c.22C>A (p.Pro8Thr) n.255C>A | gnomAD v4 |
20 | g.33443600G>A | CA510470746 | SNTA1 | c.21C>T (p.Ala7=) n.254C>T | gnomAD v4 |
20 | g.33443600G>C | CA510470748 | SNTA1 | c.21C>G (p.Ala7=) n.254C>G | |
20 | g.33443600G>T | CA510470749 | SNTA1 | c.21C>A (p.Ala7=) n.254C>A | gnomAD v4 |
20 | g.33443601G>A | CA408634818 | SNTA1 | c.20C>T (p.Ala7Val) n.253C>T | ClinVar dbSNP gnomAD v4 |
20 | g.33443601G>C | CA408634816 | SNTA1 | c.20C>G (p.Ala7Gly) n.253C>G | gnomAD v4 |
20 | g.33443601G= | CA2360755029 | SNTA1 | c.20C= (p.Ala7=) n.253C= | |
20 | g.33443601G>T | CA408634815 | SNTA1 | c.20C>A (p.Ala7Asp) n.253C>A | gnomAD v4 |
20 | g.33443602C>A | CA408634820 | SNTA1 | c.19G>T (p.Ala7Ser) n.252G>T | gnomAD v4 |
20 | g.33443602C= | CA2360755030 | SNTA1 | c.19G= (p.Ala7=) n.252G= | |
20 | g.33443602C>G | CA408634822 | SNTA1 | c.19G>C (p.Ala7Pro) n.252G>C | gnomAD v4 |
20 | g.33443602C>T | CA408634824 | SNTA1 | c.19G>A (p.Ala7Thr) n.252G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443603G>A | CA510470751 | SNTA1 | c.18C>T (p.Arg6=) n.251C>T | gnomAD v4 |
20 | g.33443603G>C | CA510470752 | SNTA1 | c.18C>G (p.Arg6=) n.251C>G | |
20 | g.33443603G>T | CA510470753 | SNTA1 | c.18C>A (p.Arg6=) n.251C>A | gnomAD v4 |
20 | g.33443604C>A | CA408634826 | SNTA1 | c.17G>T (p.Arg6Leu) n.250G>T | gnomAD v4 |
20 | g.33443604C>G | CA408634828 | SNTA1 | c.17G>C (p.Arg6Pro) n.250G>C | |
20 | g.33443604C>T | CA408634830 | SNTA1 | c.17G>A (p.Arg6His) n.250G>A | gnomAD v4 |
20 | g.33443605G>A | CA302318 | SNTA1 | c.16C>T (p.Arg6Cys) n.249C>T | ClinVar dbSNP gnomAD v4 |
20 | g.33443605G>C | CA408634835 | SNTA1 | c.16C>G (p.Arg6Gly) n.249C>G | |
20 | g.33443605G= | CA2360755031 | SNTA1 | c.16C= (p.Arg6=) n.249C= | |
20 | g.33443605G>T | CA408634833 | SNTA1 | c.16C>A (p.Arg6Ser) n.249C>A | gnomAD v4 |
20 | g.33443606C>A | CA408634837 | SNTA1 | c.15G>T (p.Arg5Ser) n.248G>T | gnomAD v4 |
20 | g.33443606C= | CA2360755032 | SNTA1 | c.15G= (p.Arg5=) n.248G= | |
20 | g.33443606C>G | CA408634839 | SNTA1 | c.15G>C (p.Arg5Ser) n.248G>C | |
20 | g.33443606C>T | CA510470755 | SNTA1 | c.15G>A (p.Arg5=) n.248G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443607C>A | CA408634841 | SNTA1 | c.14G>T (p.Arg5Met) n.247G>T | gnomAD v4 |
20 | g.33443607C>G | CA408634843 | SNTA1 | c.14G>C (p.Arg5Thr) n.247G>C | gnomAD v4 |
20 | g.33443607C>T | CA408634845 | SNTA1 | c.14G>A (p.Arg5Lys) n.247G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33443608T>A | CA408634847 | SNTA1 | c.13A>T (p.Arg5Trp) n.246A>T | gnomAD v4 |
20 | g.33443608T>C | CA408634849 | SNTA1 | c.13A>G (p.Arg5Gly) n.246A>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443608T>G | CA313279168 | SNTA1 | c.13A>C (p.Arg5=) n.246A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33443608T= | CA2360755033 | SNTA1 | c.13A= (p.Arg5=) n.246A= | |
20 | g.33443609del | CA2652478424 | SNTA1 | c.12del (p.Arg5GlyfsTer29) n.245del | gnomAD v4 |
20 | g.33443609G>A | CA510470761 | SNTA1 | c.12C>T (p.Gly4=) n.245C>T | gnomAD v4 |
20 | g.33443609G>C | CA510470760 | SNTA1 | c.12C>G (p.Gly4=) n.245C>G | gnomAD v4 |
20 | g.33443609G>T | CA510470759 | SNTA1 | c.12C>A (p.Gly4=) n.245C>A | gnomAD v4 |
20 | g.33443610C>A | CA408634851 | SNTA1 | c.11G>T (p.Gly4Val) n.244G>T | gnomAD v4 |
20 | g.33443610C>G | CA408634853 | SNTA1 | c.11G>C (p.Gly4Ala) n.244G>C | gnomAD v4 |
20 | g.33443610C>T | CA408634855 | SNTA1 | c.11G>A (p.Gly4Asp) n.244G>A | gnomAD v4 |
20 | g.33443611del | CA2652478425 | SNTA1 | c.11del (p.Gly4AlafsTer30) n.244del | gnomAD v4 |
20 | g.33443611C>A | CA408634861 | SNTA1 | c.10G>T (p.Gly4Cys) n.243G>T | ClinVar dbSNP gnomAD v4 |
20 | g.33443611C= | CA2360755034 | SNTA1 | c.10G= (p.Gly4=) n.243G= | |
20 | g.33443611C>G | CA408634859 | SNTA1 | c.10G>C (p.Gly4Arg) n.243G>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443611C>T | CA408634857 | SNTA1 | c.10G>A (p.Gly4Ser) n.243G>A | gnomAD v4 |
20 | g.33443612G>A | CA510470762 | SNTA1 | c.9C>T (p.Ser3=) n.242C>T | gnomAD v4 |
20 | g.33443612G>C | CA510470764 | SNTA1 | c.9C>G (p.Ser3=) n.242C>G | |
20 | g.33443612G>T | CA510470765 | SNTA1 | c.9C>A (p.Ser3=) n.242C>A | gnomAD v4 |
20 | g.33443613del | CA2652478426 | SNTA1 | c.9del (p.Gly4AlafsTer?) n.242del | gnomAD v4 |
20 | g.33443613G>A | CA408634862 | SNTA1 | c.8C>T (p.Ser3Phe) n.241C>T | gnomAD v4 |
20 | g.33443613G>C | CA408634864 | SNTA1 | c.8C>G (p.Ser3Cys) n.241C>G | gnomAD v4 |
20 | g.33443613G>T | CA408634866 | SNTA1 | c.8C>A (p.Ser3Tyr) n.241C>A | gnomAD v4 |
20 | g.33443614A>C | CA408634868 | SNTA1 | c.7T>G (p.Ser3Ala) n.240T>G | |
20 | g.33443614A>G | CA408634870 | SNTA1 | c.7T>C (p.Ser3Pro) n.240T>C | gnomAD v4 |
20 | g.33443614A>T | CA408634872 | SNTA1 | c.7T>A (p.Ser3Thr) n.240T>A | gnomAD v4 |
20 | g.33443614_33443623delinsACGCCATCTT | CA2360755035 | SNTA1 | c.-3_7delinsAAGATGGCGT n.231_240delinsAAGATGGCGT | |
20 | g.33443615C>A | CA510470766 | SNTA1 | c.6G>T (p.Ala2=) n.239G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33443615C= | CA2360755036 | SNTA1 | c.6G= (p.Ala2=) n.239G= | |
20 | g.33443615C>G | CA510470769 | SNTA1 | c.6G>C (p.Ala2=) n.239G>C | gnomAD v4 |
20 | g.33443615C>T | CA510470768 | SNTA1 | c.6G>A (p.Ala2=) n.239G>A | gnomAD v4 |
20 | g.33443619_33443627del | CA658799353 | SNTA1 | c.-3_6del n.231_239del | ClinVar dbSNP |