17 | g.8015294_8015483del | CA2740095253 | GUCY2D | c.2770-34_2925del
| ClinVar |
17 | g.8015326A= | CA2246119611 | GUCY2D | c.2770-2A= (n.2770-2A=)
| |
17 | g.8015326A>C | CA397954291 | GUCY2D | c.2770-2A>C (n.2770-2A>C)
| |
17 | g.8015326A>G | CA397954292 | GUCY2D | c.2770-2A>G (n.2770-2A>G)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015326A>T | CA397954293 | GUCY2D | c.2770-2A>T (n.2770-2A>T)
| |
17 | g.8015327G>A | CA397954294 | GUCY2D | c.2770-1G>A (n.2770-1G>A)
| |
17 | g.8015327G>C | CA397954295 | GUCY2D | c.2770-1G>C (n.2770-1G>C)
| ClinVar dbSNP |
17 | g.8015327G= | CA2246119619 | GUCY2D | c.2770-1G= (n.2770-1G=)
| |
17 | g.8015327G>T | CA397954296 | GUCY2D | c.2770-1G>T (n.2770-1G>T)
| gnomAD v4 |
17 | g.8015328G>A | CA397954297 | GUCY2D | c.2770G>A (p.Val924Met)
| |
17 | g.8015328G>C | CA397954298 | GUCY2D | c.2770G>C (p.Val924Leu)
| gnomAD v4 |
17 | g.8015328G>T | CA397954299 | GUCY2D | c.2770G>T (p.Val924Leu)
| |
17 | g.8015329T>A | CA397954302 | GUCY2D | c.2771T>A (p.Val924Glu)
| |
17 | g.8015329T>C | CA397954301 | GUCY2D | c.2771T>C (p.Val924Ala)
| |
17 | g.8015329T>G | CA397954300 | GUCY2D | c.2771T>G (p.Val924Gly)
| |
17 | g.8015330G>A | CA497753612 | GUCY2D | c.2772G>A (p.Val924=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015330G>C | CA497753613 | GUCY2D | c.2772G>C (p.Val924=)
| |
17 | g.8015330G= | CA2246119627 | GUCY2D | c.2772G= (p.Val924=)
| |
17 | g.8015330G>T | CA497753614 | GUCY2D | c.2772G>T (p.Val924=)
| |
17 | g.8015331G>A | CA287533596 | GUCY2D | c.2773G>A (p.Glu925Lys)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.8015331G>C | CA397954303 | GUCY2D | c.2773G>C (p.Glu925Gln)
| |
17 | g.8015331G= | CA2246119631 | GUCY2D | c.2773G= (p.Glu925=)
| |
17 | g.8015331G>T | CA397954304 | GUCY2D | c.2773G>T (p.Glu925Ter)
| gnomAD v4 |
17 | g.8015332A>C | CA397954305 | GUCY2D | c.2774A>C (p.Glu925Ala)
| |
17 | g.8015332A>G | CA397954307 | GUCY2D | c.2774A>G (p.Glu925Gly)
| |
17 | g.8015332A>T | CA397954306 | GUCY2D | c.2774A>T (p.Glu925Val)
| |
17 | g.8015333G>A | CA497753615 | GUCY2D | c.2775G>A (p.Glu925=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015333G>C | CA397954308 | GUCY2D | c.2775G>C (p.Glu925Asp)
| |
17 | g.8015333G= | CA2246119634 | GUCY2D | c.2775G= (p.Glu925=)
| |
17 | g.8015333G>T | CA397954309 | GUCY2D | c.2775G>T (p.Glu925Asp)
| |
17 | g.8015334A>C | CA397954310 | GUCY2D | c.2776A>C (p.Thr926Pro)
| |
17 | g.8015334A>G | CA397954311 | GUCY2D | c.2776A>G (p.Thr926Ala)
| |
17 | g.8015334A>T | CA397954312 | GUCY2D | c.2776A>T (p.Thr926Ser)
| |
17 | g.8015335C>A | CA397954313 | GUCY2D | c.2777C>A (p.Thr926Lys)
| gnomAD v4 |
17 | g.8015335C>G | CA397954314 | GUCY2D | c.2777C>G (p.Thr926Arg)
| |
17 | g.8015335C>T | CA397954315 | GUCY2D | c.2777C>T (p.Thr926Ile)
| |
17 | g.8015336A= | CA2246119638 | GUCY2D | c.2778A= (p.Thr926=)
| |
17 | g.8015336A>C | CA497753616 | GUCY2D | c.2778A>C (p.Thr926=)
| |
17 | g.8015336A>G | CA8366226 | GUCY2D | c.2778A>G (p.Thr926=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015336A>T | CA497753617 | GUCY2D | c.2778A>T (p.Thr926=)
| |
17 | g.8015337A= | CA2246119641 | GUCY2D | c.2779A= (p.Ile927=)
| |
17 | g.8015337A>C | CA397954316 | GUCY2D | c.2779A>C (p.Ile927Leu)
| |
17 | g.8015337A>G | CA397954317 | GUCY2D | c.2779A>G (p.Ile927Val)
| ClinVar dbSNP |
17 | g.8015337A>T | CA397954318 | GUCY2D | c.2779A>T (p.Ile927Leu)
| |
17 | g.8015338T>A | CA397954319 | GUCY2D | c.2780T>A (p.Ile927Lys)
| |
17 | g.8015338T>C | CA397954320 | GUCY2D | c.2780T>C (p.Ile927Thr)
| dbSNP gnomAD v4 |
17 | g.8015338T>G | CA397954321 | GUCY2D | c.2780T>G (p.Ile927Arg)
| |
17 | g.8015338T= | CA2246119646 | GUCY2D | c.2780T= (p.Ile927=)
| |
17 | g.8015339A>C | CA497753618 | GUCY2D | c.2781A>C (p.Ile927=)
| |
17 | g.8015339A>G | CA397954322 | GUCY2D | c.2781A>G (p.Ile927Met)
| |
17 | g.8015339A>T | CA497753619 | GUCY2D | c.2781A>T (p.Ile927=)
| |
17 | g.8015340G>A | CA397954323 | GUCY2D | c.2782G>A (p.Gly928Arg)
| gnomAD v4 |
17 | g.8015340G>C | CA397954324 | GUCY2D | c.2782G>C (p.Gly928Arg)
| |
17 | g.8015340G>T | CA397954325 | GUCY2D | c.2782G>T (p.Gly928Trp)
| gnomAD v4 |
17 | g.8015342_8015343dup | CA2635953847 | GUCY2D | c.2784_2785dup (p.Asp929GlyfsTer?)
| gnomAD v4 |
17 | g.8015340_8015345delinsGGGGAC | CA2246119652 | GUCY2D | c.2782_2787delinsGGGGAC (p.Gly928=)
| |
17 | g.8015342_8015355del | CA2576160484 | GUCY2D | c.2784_2797del (p.Asp929GlyfsTer?)
| |
17 | g.8015341G>A | CA501024 | GUCY2D | c.2783G>A (p.Gly928Glu)
| |
17 | g.8015341G>C | CA397954326 | GUCY2D | c.2783G>C (p.Gly928Ala)
| ClinVar dbSNP |
17 | g.8015341G= | CA2246119655 | GUCY2D | c.2783G= (p.Gly928=)
| |
17 | g.8015341G>T | CA397954327 | GUCY2D | c.2783G>T (p.Gly928Val)
| |
17 | g.8015342_8015346del | CA624867967 | GUCY2D | c.2784_2788del (p.Asp929LeufsTer?)
| dbSNP gnomAD v2 |
17 | g.8015342G>A | CA497753620 | GUCY2D | c.2784G>A (p.Gly928=)
| ClinVar |
17 | g.8015342G>C | CA8366227 | GUCY2D | c.2784G>C (p.Gly928=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015342G= | CA2246119664 | GUCY2D | c.2784G= (p.Gly928=)
| |
17 | g.8015342G>T | CA497753621 | GUCY2D | c.2784G>T (p.Gly928=)
| gnomAD v4 |
17 | g.8015343G>A | CA397954328 | GUCY2D | c.2785G>A (p.Asp929Asn)
| gnomAD v4 |
17 | g.8015343G>C | CA397954329 | GUCY2D | c.2785G>C (p.Asp929His)
| |
17 | g.8015343G>T | CA397954330 | GUCY2D | c.2785G>T (p.Asp929Tyr)
| gnomAD v4 |
17 | g.8015344A>C | CA397954331 | GUCY2D | c.2786A>C (p.Asp929Ala)
| |
17 | g.8015344A>G | CA397954332 | GUCY2D | c.2786A>G (p.Asp929Gly)
| |
17 | g.8015344A>T | CA397954333 | GUCY2D | c.2786A>T (p.Asp929Val)
| |
17 | g.8015345C>A | CA397954334 | GUCY2D | c.2787C>A (p.Asp929Glu)
| |
17 | g.8015345C= | CA2246119671 | GUCY2D | c.2787C= (p.Asp929=)
| |
17 | g.8015345C>G | CA397954335 | GUCY2D | c.2787C>G (p.Asp929Glu)
| |
17 | g.8015345C>T | CA8366228 | GUCY2D | c.2787C>T (p.Asp929=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8015346G>A | CA397954336 | GUCY2D | c.2788G>A (p.Ala930Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015346G>C | CA397954337 | GUCY2D | c.2788G>C (p.Ala930Pro)
| |
17 | g.8015346G= | CA2246119685 | GUCY2D | c.2788G= (p.Ala930=)
| |
17 | g.8015346G>T | CA397954338 | GUCY2D | c.2788G>T (p.Ala930Ser)
| |
17 | g.8015350_8015361del | CA2576160485 | GUCY2D | c.2792_2803del (p.Tyr931_Ala934del)
| |
17 | g.8015347C>A | CA8366230 | GUCY2D | c.2789C>A (p.Ala930Asp)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.8015347C= | CA2246119691 | GUCY2D | c.2789C= (p.Ala930=)
| |
17 | g.8015347C>G | CA397954339 | GUCY2D | c.2789C>G (p.Ala930Gly)
| |
17 | g.8015347C>T | CA8366229 | GUCY2D | c.2789C>T (p.Ala930Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015348C>A | CA497753622 | GUCY2D | c.2790C>A (p.Ala930=)
| |
17 | g.8015348C>G | CA497753623 | GUCY2D | c.2790C>G (p.Ala930=)
| |
17 | g.8015348C>T | CA497753624 | GUCY2D | c.2790C>T (p.Ala930=)
| |
17 | g.8015349T>A | CA397954340 | GUCY2D | c.2791T>A (p.Tyr931Asn)
| |
17 | g.8015349T>C | CA397954341 | GUCY2D | c.2791T>C (p.Tyr931His)
| |
17 | g.8015349T>G | CA397954342 | GUCY2D | c.2791T>G (p.Tyr931Asp)
| |
17 | g.8015350A>C | CA397954343 | GUCY2D | c.2792A>C (p.Tyr931Ser)
| |
17 | g.8015350A>G | CA397954344 | GUCY2D | c.2792A>G (p.Tyr931Cys)
| |
17 | g.8015350A>T | CA397954345 | GUCY2D | c.2792A>T (p.Tyr931Phe)
| |
17 | g.8015351T>A | CA397954347 | GUCY2D | c.2793T>A (p.Tyr931Ter)
| |
17 | g.8015351T>C | CA497753625 | GUCY2D | c.2793T>C (p.Tyr931=)
| gnomAD v4 |
17 | g.8015351T>G | CA397954346 | GUCY2D | c.2793T>G (p.Tyr931Ter)
| |
17 | g.8015352A= | CA2246119694 | GUCY2D | c.2794A= (p.Met932=)
| |
17 | g.8015352A>C | CA397954348 | GUCY2D | c.2794A>C (p.Met932Leu)
| gnomAD v4 |
17 | g.8015352A>G | CA8366231 | GUCY2D | c.2794A>G (p.Met932Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015352A>T | CA397954349 | GUCY2D | c.2794A>T (p.Met932Leu)
| |
17 | g.8015353T>A | CA397954350 | GUCY2D | c.2795T>A (p.Met932Lys)
| |
17 | g.8015353T>C | CA397954351 | GUCY2D | c.2795T>C (p.Met932Thr)
| |
17 | g.8015353T>G | CA8366232 | GUCY2D | c.2795T>G (p.Met932Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.8015353T= | CA2246119697 | GUCY2D | c.2795T= (p.Met932=)
| |
17 | g.8015354G>A | CA397954352 | GUCY2D | c.2796G>A (p.Met932Ile)
| |
17 | g.8015354G>C | CA397954353 | GUCY2D | c.2796G>C (p.Met932Ile)
| |
17 | g.8015354G>T | CA397954354 | GUCY2D | c.2796G>T (p.Met932Ile)
| |
17 | g.8015355G>A | CA397954355 | GUCY2D | c.2797G>A (p.Val933Met)
| |
17 | g.8015355G>C | CA397954356 | GUCY2D | c.2797G>C (p.Val933Leu)
| |
17 | g.8015355G>T | CA397954357 | GUCY2D | c.2797G>T (p.Val933Leu)
| |
17 | g.8015356T>A | CA397954360 | GUCY2D | c.2798T>A (p.Val933Glu)
| |
17 | g.8015356T>C | CA397954359 | GUCY2D | c.2798T>C (p.Val933Ala)
| ClinVar dbSNP |
17 | g.8015356T>G | CA397954358 | GUCY2D | c.2798T>G (p.Val933Gly)
| |
17 | g.8015356T= | CA2246119705 | GUCY2D | c.2798T= (p.Val933=)
| |
17 | g.8015357G>A | CA497753626 | GUCY2D | c.2799G>A (p.Val933=)
| dbSNP gnomAD v4 |
17 | g.8015357G>C | CA497753627 | GUCY2D | c.2799G>C (p.Val933=)
| |
17 | g.8015357G= | CA2246119711 | GUCY2D | c.2799G= (p.Val933=)
| |
17 | g.8015357G>T | CA497753628 | GUCY2D | c.2799G>T (p.Val933=)
| |
17 | g.8015358G>A | CA397954361 | GUCY2D | c.2800G>A (p.Ala934Thr)
| dbSNP gnomAD v2 |
17 | g.8015358G>C | CA226097 | GUCY2D | c.2800G>C (p.Ala934Pro)
| ClinVar dbSNP |
17 | g.8015358G= | CA2246119716 | GUCY2D | c.2800G= (p.Ala934=)
| |
17 | g.8015358G>T | CA397954362 | GUCY2D | c.2800G>T (p.Ala934Ser)
| |
17 | g.8015359C>A | CA397954363 | GUCY2D | c.2801C>A (p.Ala934Asp)
| |
17 | g.8015359C= | CA2246119719 | GUCY2D | c.2801C= (p.Ala934=)
| |
17 | g.8015359C>G | CA397954364 | GUCY2D | c.2801C>G (p.Ala934Gly)
| |
17 | g.8015359C>T | CA397954365 | GUCY2D | c.2801C>T (p.Ala934Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015360C>A | CA497753629 | GUCY2D | c.2802C>A (p.Ala934=)
| |
17 | g.8015360C= | CA2246119725 | GUCY2D | c.2802C= (p.Ala934=)
| |
17 | g.8015360C>G | CA497753630 | GUCY2D | c.2802C>G (p.Ala934=)
| |
17 | g.8015360C>T | CA497753631 | GUCY2D | c.2802C>T (p.Ala934=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015361T>A | CA397954366 | GUCY2D | c.2803T>A (p.Ser935Thr)
| |
17 | g.8015361T>C | CA397954368 | GUCY2D | c.2803T>C (p.Ser935Pro)
| |
17 | g.8015361T>G | CA397954369 | GUCY2D | c.2803T>G (p.Ser935Ala)
| |
17 | g.8015362C>A | CA397954370 | GUCY2D | c.2804C>A (p.Ser935Ter)
| dbSNP |
17 | g.8015362C= | CA2246119732 | GUCY2D | c.2804C= (p.Ser935=)
| |
17 | g.8015362C>G | CA397954372 | GUCY2D | c.2804C>G (p.Ser935Trp)
| |
17 | g.8015362C>T | CA397954374 | GUCY2D | c.2804C>T (p.Ser935Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8015363G>A | CA8366233 | GUCY2D | c.2805G>A (p.Ser935=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015363G>C | CA497753632 | GUCY2D | c.2805G>C (p.Ser935=)
| |
17 | g.8015363G= | CA2246119739 | GUCY2D | c.2805G= (p.Ser935=)
| |
17 | g.8015363G>T | CA497753633 | GUCY2D | c.2805G>T (p.Ser935=)
| dbSNP |
17 | g.8015364G>A | CA397954383 | GUCY2D | c.2806G>A (p.Gly936Arg)
| |
17 | g.8015364G>C | CA397954380 | GUCY2D | c.2806G>C (p.Gly936Arg)
| |
17 | g.8015364G>T | CA397954378 | GUCY2D | c.2806G>T (p.Gly936Trp)
| gnomAD v4 |
17 | g.8015365G>A | CA397954384 | GUCY2D | c.2807G>A (p.Gly936Glu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015365G>C | CA397954386 | GUCY2D | c.2807G>C (p.Gly936Ala)
| |
17 | g.8015365G= | CA2246119743 | GUCY2D | c.2807G= (p.Gly936=)
| |
17 | g.8015365G>T | CA397954388 | GUCY2D | c.2807G>T (p.Gly936Val)
| gnomAD v4 |
17 | g.8015366G>A | CA497753634 | GUCY2D | c.2808G>A (p.Gly936=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015366G>C | CA497753635 | GUCY2D | c.2808G>C (p.Gly936=)
| ClinVar gnomAD v4 |
17 | g.8015366G= | CA2246119746 | GUCY2D | c.2808G= (p.Gly936=)
| |
17 | g.8015366G>T | CA497753636 | GUCY2D | c.2808G>T (p.Gly936=)
| gnomAD v4 |
17 | g.8015367C>A | CA397954390 | GUCY2D | c.2809C>A (p.Leu937Met)
| |
17 | g.8015367C= | CA2246119747 | GUCY2D | c.2809C= (p.Leu937=)
| |
17 | g.8015367C>G | CA397954392 | GUCY2D | c.2809C>G (p.Leu937Val)
| |
17 | g.8015367C>T | CA497753637 | GUCY2D | c.2809C>T (p.Leu937=)
| dbSNP gnomAD v4 |
17 | g.8015368del | CA645575845 | GUCY2D | c.2810del (p.Leu937ArgfsTer?)
| COSMIC |
17 | g.8015368T>A | CA397954395 | GUCY2D | c.2810T>A (p.Leu937Gln)
| |
17 | g.8015368T>C | CA397954397 | GUCY2D | c.2810T>C (p.Leu937Pro)
| |
17 | g.8015368T>G | CA397954399 | GUCY2D | c.2810T>G (p.Leu937Arg)
| |
17 | g.8015369G>A | CA8366234 | GUCY2D | c.2811G>A (p.Leu937=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015369G>C | CA497753638 | GUCY2D | c.2811G>C (p.Leu937=)
| |
17 | g.8015369G= | CA2246119750 | GUCY2D | c.2811G= (p.Leu937=)
| |
17 | g.8015369G>T | CA497753639 | GUCY2D | c.2811G>T (p.Leu937=)
| dbSNP gnomAD v4 |
17 | g.8015370C>A | CA397954403 | GUCY2D | c.2812C>A (p.Pro938Thr)
| |
17 | g.8015370C>G | CA397954405 | GUCY2D | c.2812C>G (p.Pro938Ala)
| |
17 | g.8015370C>T | CA397954407 | GUCY2D | c.2812C>T (p.Pro938Ser)
| gnomAD v4 COSMIC |
17 | g.8015373del | CA2635953930 | GUCY2D | c.2815del (p.Gln939SerfsTer?)
| gnomAD v4 |
17 | g.8015371C>A | CA397954412 | GUCY2D | c.2813C>A (p.Pro938His)
| |
17 | g.8015371C= | CA2246119757 | GUCY2D | c.2813C= (p.Pro938=)
| |
17 | g.8015371C>G | CA397954414 | GUCY2D | c.2813C>G (p.Pro938Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015371C>T | CA397954410 | GUCY2D | c.2813C>T (p.Pro938Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015372C>A | CA497753640 | GUCY2D | c.2814C>A (p.Pro938=)
| |
17 | g.8015372C= | CA2246119768 | GUCY2D | c.2814C= (p.Pro938=)
| |
17 | g.8015372C>G | CA497753641 | GUCY2D | c.2814C>G (p.Pro938=)
| |
17 | g.8015372C>T | CA497753642 | GUCY2D | c.2814C>T (p.Pro938=)
| dbSNP gnomAD v2 |
17 | g.8015373C>A | CA397954417 | GUCY2D | c.2815C>A (p.Gln939Lys)
| |
17 | g.8015373C>G | CA397954419 | GUCY2D | c.2815C>G (p.Gln939Glu)
| |
17 | g.8015373C>T | CA397954421 | GUCY2D | c.2815C>T (p.Gln939Ter)
| gnomAD v4 |
17 | g.8015374A>C | CA397954424 | GUCY2D | c.2816A>C (p.Gln939Pro)
| |
17 | g.8015374A>G | CA397954425 | GUCY2D | c.2816A>G (p.Gln939Arg)
| gnomAD v4 |
17 | g.8015374A>T | CA397954427 | GUCY2D | c.2816A>T (p.Gln939Leu)
| |
17 | g.8015375G>A | CA497753643 | GUCY2D | c.2817G>A (p.Gln939=)
| |
17 | g.8015375G>C | CA397954429 | GUCY2D | c.2817G>C (p.Gln939His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015375G= | CA2246119774 | GUCY2D | c.2817G= (p.Gln939=)
| |
17 | g.8015375G>T | CA397954431 | GUCY2D | c.2817G>T (p.Gln939His)
| |
17 | g.8015376C>A | CA497753644 | GUCY2D | c.2818C>A (p.Arg940=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015376C= | CA2246119787 | GUCY2D | c.2818C= (p.Arg940=)
| |
17 | g.8015376C>G | CA397954434 | GUCY2D | c.2818C>G (p.Arg940Gly)
| |
17 | g.8015376C>T | CA8366235 | GUCY2D | c.2818C>T (p.Arg940Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015377G>A | CA397954438 | GUCY2D | c.2819G>A (p.Arg940Gln)
| dbSNP gnomAD v2 COSMIC |
17 | g.8015377G>C | CA397954440 | GUCY2D | c.2819G>C (p.Arg940Pro)
| |
17 | g.8015377G= | CA2246119794 | GUCY2D | c.2819G= (p.Arg940=)
| |
17 | g.8015377G>T | CA397954442 | GUCY2D | c.2819G>T (p.Arg940Leu)
| gnomAD v4 |
17 | g.8015378G>A | CA497753645 | GUCY2D | c.2820G>A (p.Arg940=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015378G>C | CA497753646 | GUCY2D | c.2820G>C (p.Arg940=)
| |
17 | g.8015378G= | CA2246119800 | GUCY2D | c.2820G= (p.Arg940=)
| |
17 | g.8015378G>T | CA497753647 | GUCY2D | c.2820G>T (p.Arg940=)
| |
17 | g.8015379A>C | CA397954450 | GUCY2D | c.2821A>C (p.Asn941His)
| |
17 | g.8015379A>G | CA397954448 | GUCY2D | c.2821A>G (p.Asn941Asp)
| |
17 | g.8015379A>T | CA397954445 | GUCY2D | c.2821A>T (p.Asn941Tyr)
| |
17 | g.8015380A>C | CA397954452 | GUCY2D | c.2822A>C (p.Asn941Thr)
| |
17 | g.8015380A>G | CA397954454 | GUCY2D | c.2822A>G (p.Asn941Ser)
| |
17 | g.8015380A>T | CA397954456 | GUCY2D | c.2822A>T (p.Asn941Ile)
| |
17 | g.8015381T>A | CA397954458 | GUCY2D | c.2823T>A (p.Asn941Lys)
| |
17 | g.8015381T>C | CA8366236 | GUCY2D | c.2823T>C (p.Asn941=)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.8015381T>G | CA397954462 | GUCY2D | c.2823T>G (p.Asn941Lys)
| |
17 | g.8015381T= | CA2246119803 | GUCY2D | c.2823T= (p.Asn941=)
| |
17 | g.8015382G>A | CA397954465 | GUCY2D | c.2824G>A (p.Gly942Arg)
| |
17 | g.8015382G>C | CA397954467 | GUCY2D | c.2824G>C (p.Gly942Arg)
| |
17 | g.8015382G>T | CA397954468 | GUCY2D | c.2824G>T (p.Gly942Trp)
| |
17 | g.8015383G>A | CA397954471 | GUCY2D | c.2825G>A (p.Gly942Glu)
| |
17 | g.8015383G>C | CA397954473 | GUCY2D | c.2825G>C (p.Gly942Ala)
| |
17 | g.8015383G>T | CA397954476 | GUCY2D | c.2825G>T (p.Gly942Val)
| |
17 | g.8015384G>A | CA497753648 | GUCY2D | c.2826G>A (p.Gly942=)
| |
17 | g.8015384G>C | CA497753649 | GUCY2D | c.2826G>C (p.Gly942=)
| |
17 | g.8015384G>T | CA497753650 | GUCY2D | c.2826G>T (p.Gly942=)
| |
17 | g.8015385C>A | CA397954483 | GUCY2D | c.2827C>A (p.Gln943Lys)
| |
17 | g.8015385C>G | CA397954481 | GUCY2D | c.2827C>G (p.Gln943Glu)
| |
17 | g.8015385C>T | CA397954479 | GUCY2D | c.2827C>T (p.Gln943Ter)
| COSMIC |
17 | g.8015386A>C | CA397954486 | GUCY2D | c.2828A>C (p.Gln943Pro)
| |
17 | g.8015386A>G | CA397954494 | GUCY2D | c.2828A>G (p.Gln943Arg)
| |
17 | g.8015386A>T | CA397954492 | GUCY2D | c.2828A>T (p.Gln943Leu)
| |
17 | g.8015387G>A | CA497753651 | GUCY2D | c.2829G>A (p.Gln943=)
| |
17 | g.8015387G>C | CA397954496 | GUCY2D | c.2829G>C (p.Gln943His)
| |
17 | g.8015387G>T | CA397954498 | GUCY2D | c.2829G>T (p.Gln943His)
| gnomAD v4 |
17 | g.8015388C>A | CA8366237 | GUCY2D | c.2830C>A (p.Arg944=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015388C= | CA2246119812 | GUCY2D | c.2830C= (p.Arg944=)
| |
17 | g.8015388C>G | CA8366238 | GUCY2D | c.2830C>G (p.Arg944Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015388C>T | CA397954504 | GUCY2D | c.2830C>T (p.Arg944Ter)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015389G>A | CA8366239 | GUCY2D | c.2831G>A (p.Arg944Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015389G>C | CA397954507 | GUCY2D | c.2831G>C (p.Arg944Pro)
| |
17 | g.8015389G= | CA2246119818 | GUCY2D | c.2831G= (p.Arg944=)
| |
17 | g.8015389G>T | CA397954510 | GUCY2D | c.2831G>T (p.Arg944Leu)
| gnomAD v4 |
17 | g.8015390A>C | CA497753652 | GUCY2D | c.2832A>C (p.Arg944=)
| |
17 | g.8015390A>G | CA497753653 | GUCY2D | c.2832A>G (p.Arg944=)
| |
17 | g.8015390A>T | CA497753654 | GUCY2D | c.2832A>T (p.Arg944=)
| |
17 | g.8015391C>A | CA397954513 | GUCY2D | c.2833C>A (p.His945Asn)
| |
17 | g.8015391C>G | CA397954514 | GUCY2D | c.2833C>G (p.His945Asp)
| |
17 | g.8015391C>T | CA397954516 | GUCY2D | c.2833C>T (p.His945Tyr)
| gnomAD v4 |
17 | g.8015392A>C | CA397954519 | GUCY2D | c.2834A>C (p.His945Pro)
| |
17 | g.8015392A>G | CA397954521 | GUCY2D | c.2834A>G (p.His945Arg)
| gnomAD v4 |
17 | g.8015392A>T | CA397954524 | GUCY2D | c.2834A>T (p.His945Leu)
| |
17 | g.8015393C>A | CA397954528 | GUCY2D | c.2835C>A (p.His945Gln)
| |
17 | g.8015393C>G | CA397954526 | GUCY2D | c.2835C>G (p.His945Gln)
| gnomAD v4 |
17 | g.8015393C>T | CA497753655 | GUCY2D | c.2835C>T (p.His945=)
| ClinVar gnomAD v4 |
17 | g.8015394G>A | CA397954531 | GUCY2D | c.2836G>A (p.Ala946Thr)
| ClinVar dbSNP |
17 | g.8015394G>C | CA397954533 | GUCY2D | c.2836G>C (p.Ala946Pro)
| ClinVar |
17 | g.8015394G= | CA2246119825 | GUCY2D | c.2836G= (p.Ala946=)
| |
17 | g.8015394G>T | CA397954535 | GUCY2D | c.2836G>T (p.Ala946Ser)
| ClinVar dbSNP |
17 | g.8015395C>A | CA397954538 | GUCY2D | c.2837C>A (p.Ala946Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015395C= | CA2246119839 | GUCY2D | c.2837C= (p.Ala946=)
| |
17 | g.8015395C>G | CA397954540 | GUCY2D | c.2837C>G (p.Ala946Gly)
| |
17 | g.8015395C>T | CA226099 | GUCY2D | c.2837C>T (p.Ala946Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8015396G>A | CA8366240 | GUCY2D | c.2838G>A (p.Ala946=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015396G>C | CA497753656 | GUCY2D | c.2838G>C (p.Ala946=)
| ClinVar |
17 | g.8015396G= | CA2246119842 | GUCY2D | c.2838G= (p.Ala946=)
| |
17 | g.8015396G>T | CA497753657 | GUCY2D | c.2838G>T (p.Ala946=)
| gnomAD v4 |
17 | g.8015397G>A | CA397954547 | GUCY2D | c.2839G>A (p.Ala947Thr)
| dbSNP |
17 | g.8015397G>C | CA397954549 | GUCY2D | c.2839G>C (p.Ala947Pro)
| |
17 | g.8015397G= | CA2246119845 | GUCY2D | c.2839G= (p.Ala947=)
| |
17 | g.8015397G>T | CA397954551 | GUCY2D | c.2839G>T (p.Ala947Ser)
| dbSNP |
17 | g.8015398C>A | CA397954555 | GUCY2D | c.2840C>A (p.Ala947Glu)
| |
17 | g.8015398C= | CA2246119858 | GUCY2D | c.2840C= (p.Ala947=)
| |
17 | g.8015398C>G | CA397954556 | GUCY2D | c.2840C>G (p.Ala947Gly)
| |
17 | g.8015398C>T | CA397954557 | GUCY2D | c.2840C>T (p.Ala947Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015399A= | CA2246119862 | GUCY2D | c.2841A= (p.Ala947=)
| |
17 | g.8015399A>C | CA497753658 | GUCY2D | c.2841A>C (p.Ala947=)
| |
17 | g.8015399A>G | CA497753659 | GUCY2D | c.2841A>G (p.Ala947=)
| dbSNP gnomAD v4 |
17 | g.8015399A>T | CA497753660 | GUCY2D | c.2841A>T (p.Ala947=)
| |
17 | g.8015400G>A | CA397954561 | GUCY2D | c.2842G>A (p.Glu948Lys)
| ClinVar dbSNP |
17 | g.8015400G>C | CA397954565 | GUCY2D | c.2842G>C (p.Glu948Gln)
| |
17 | g.8015400G>T | CA397954562 | GUCY2D | c.2842G>T (p.Glu948Ter)
| |
17 | g.8015401A>C | CA397954567 | GUCY2D | c.2843A>C (p.Glu948Ala)
| |
17 | g.8015401A>G | CA397954570 | GUCY2D | c.2843A>G (p.Glu948Gly)
| |
17 | g.8015401A>T | CA397954572 | GUCY2D | c.2843A>T (p.Glu948Val)
| |
17 | g.8015402G>A | CA497753661 | GUCY2D | c.2844G>A (p.Glu948=)
| |
17 | g.8015402G>C | CA397954575 | GUCY2D | c.2844G>C (p.Glu948Asp)
| |
17 | g.8015402G>T | CA397954577 | GUCY2D | c.2844G>T (p.Glu948Asp)
| |
17 | g.8015403A>C | CA397954580 | GUCY2D | c.2845A>C (p.Ile949Leu)
| ClinVar |
17 | g.8015403A>G | CA397954581 | GUCY2D | c.2845A>G (p.Ile949Val)
| |
17 | g.8015403A>T | CA397954583 | GUCY2D | c.2845A>T (p.Ile949Phe)
| |
17 | g.8015404T>A | CA397954585 | GUCY2D | c.2846T>A (p.Ile949Asn)
| |
17 | g.8015404T>C | CA250578 | GUCY2D | c.2846T>C (p.Ile949Thr)
| ClinVar dbSNP |
17 | g.8015404T>G | CA397954588 | GUCY2D | c.2846T>G (p.Ile949Ser)
| |
17 | g.8015404T= | CA2246119869 | GUCY2D | c.2846T= (p.Ile949=)
| |
17 | g.8015405C>A | CA497753663 | GUCY2D | c.2847C>A (p.Ile949=)
| |
17 | g.8015405C>G | CA397954590 | GUCY2D | c.2847C>G (p.Ile949Met)
| gnomAD v4 |
17 | g.8015405C>T | CA497753662 | GUCY2D | c.2847C>T (p.Ile949=)
| gnomAD v4 |
17 | g.8015406G>A | CA397954597 | GUCY2D | c.2848G>A (p.Ala950Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015406G>C | CA397954593 | GUCY2D | c.2848G>C (p.Ala950Pro)
| |
17 | g.8015406G= | CA2246119879 | GUCY2D | c.2848G= (p.Ala950=)
| |
17 | g.8015406G>T | CA397954595 | GUCY2D | c.2848G>T (p.Ala950Ser)
| |
17 | g.8015407C>A | CA397954599 | GUCY2D | c.2849C>A (p.Ala950Asp)
| |
17 | g.8015407C= | CA2246119887 | GUCY2D | c.2849C= (p.Ala950=)
| |
17 | g.8015407C>G | CA397954600 | GUCY2D | c.2849C>G (p.Ala950Gly)
| |
17 | g.8015407C>T | CA226101 | GUCY2D | c.2849C>T (p.Ala950Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015408C>A | CA8366242 | GUCY2D | c.2850C>A (p.Ala950=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015408C= | CA2246119896 | GUCY2D | c.2850C= (p.Ala950=)
| |
17 | g.8015408C>G | CA497753664 | GUCY2D | c.2850C>G (p.Ala950=)
| |
17 | g.8015408C>T | CA8366241 | GUCY2D | c.2850C>T (p.Ala950=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015409A>C | CA397954610 | GUCY2D | c.2851A>C (p.Asn951His)
| |
17 | g.8015409A>G | CA397954612 | GUCY2D | c.2851A>G (p.Asn951Asp)
| |
17 | g.8015409A>T | CA397954614 | GUCY2D | c.2851A>T (p.Asn951Tyr)
| |
17 | g.8015410A= | CA2246119902 | GUCY2D | c.2852A= (p.Asn951=)
| |
17 | g.8015410A>C | CA397954617 | GUCY2D | c.2852A>C (p.Asn951Thr)
| |
17 | g.8015410A>G | CA397954619 | GUCY2D | c.2852A>G (p.Asn951Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015410A>T | CA397954621 | GUCY2D | c.2852A>T (p.Asn951Ile)
| |
17 | g.8015411C>A | CA397954626 | GUCY2D | c.2853C>A (p.Asn951Lys)
| |
17 | g.8015411C>G | CA397954624 | GUCY2D | c.2853C>G (p.Asn951Lys)
| |
17 | g.8015411C>T | CA497753665 | GUCY2D | c.2853C>T (p.Asn951=)
| gnomAD v4 |
17 | g.8015412A>C | CA397954629 | GUCY2D | c.2854A>C (p.Met952Leu)
| |
17 | g.8015412A>G | CA397954633 | GUCY2D | c.2854A>G (p.Met952Val)
| gnomAD v4 |
17 | g.8015412A>T | CA397954631 | GUCY2D | c.2854A>T (p.Met952Leu)
| |
17 | g.8015413T>A | CA397954636 | GUCY2D | c.2855T>A (p.Met952Lys)
| |
17 | g.8015413T>C | CA397954638 | GUCY2D | c.2855T>C (p.Met952Thr)
| gnomAD v4 |
17 | g.8015413T>G | CA397954639 | GUCY2D | c.2855T>G (p.Met952Arg)
| |
17 | g.8015414G>A | CA397954642 | GUCY2D | c.2856G>A (p.Met952Ile)
| gnomAD v4 |
17 | g.8015414G>C | CA397954644 | GUCY2D | c.2856G>C (p.Met952Ile)
| |
17 | g.8015414G>T | CA397954646 | GUCY2D | c.2856G>T (p.Met952Ile)
| |
17 | g.8015415T>A | CA397954648 | GUCY2D | c.2857T>A (p.Ser953Thr)
| |
17 | g.8015415T>C | CA397954650 | GUCY2D | c.2857T>C (p.Ser953Pro)
| |
17 | g.8015415T>G | CA397954653 | GUCY2D | c.2857T>G (p.Ser953Ala)
| |
17 | g.8015416C>A | CA397954655 | GUCY2D | c.2858C>A (p.Ser953Ter)
| |
17 | g.8015416C>G | CA397954658 | GUCY2D | c.2858C>G (p.Ser953Ter)
| |
17 | g.8015416C>T | CA397954660 | GUCY2D | c.2858C>T (p.Ser953Leu)
| |
17 | g.8015417A>C | CA497753666 | GUCY2D | c.2859A>C (p.Ser953=)
| |
17 | g.8015417A>G | CA497753667 | GUCY2D | c.2859A>G (p.Ser953=)
| |
17 | g.8015417A>T | CA497753668 | GUCY2D | c.2859A>T (p.Ser953=)
| ClinVar gnomAD v4 |
17 | g.8015418C>A | CA397954662 | GUCY2D | c.2860C>A (p.Leu954Met)
| |
17 | g.8015418C= | CA2246119910 | GUCY2D | c.2860C= (p.Leu954=)
| |
17 | g.8015418C>G | CA397954661 | GUCY2D | c.2860C>G (p.Leu954Val)
| ClinVar dbSNP |
17 | g.8015418C>T | CA8366243 | GUCY2D | c.2860C>T (p.Leu954=)
| ClinVar dbSNP ExAC gnomAD v4 |
17 | g.8015419T>A | CA397954663 | GUCY2D | c.2861T>A (p.Leu954Gln)
| gnomAD v4 |
17 | g.8015419T>C | CA226103 | GUCY2D | c.2861T>C (p.Leu954Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015419T>G | CA397954664 | GUCY2D | c.2861T>G (p.Leu954Arg)
| |
17 | g.8015419T= | CA2246119922 | GUCY2D | c.2861T= (p.Leu954=)
| |
17 | g.8015420G>A | CA497753669 | GUCY2D | c.2862G>A (p.Leu954=)
| |
17 | g.8015420G>C | CA497753670 | GUCY2D | c.2862G>C (p.Leu954=)
| |
17 | g.8015420G>T | CA497753671 | GUCY2D | c.2862G>T (p.Leu954=)
| |
17 | g.8015421G>A | CA8366244 | GUCY2D | c.2863G>A (p.Asp955Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015421G>C | CA397954665 | GUCY2D | c.2863G>C (p.Asp955His)
| |
17 | g.8015421G= | CA2246119927 | GUCY2D | c.2863G= (p.Asp955=)
| |
17 | g.8015421G>T | CA397954666 | GUCY2D | c.2863G>T (p.Asp955Tyr)
| gnomAD v4 |
17 | g.8015422A= | CA2246119930 | GUCY2D | c.2864A= (p.Asp955=)
| |
17 | g.8015422A>C | CA397954667 | GUCY2D | c.2864A>C (p.Asp955Ala)
| |
17 | g.8015422A>G | CA397954668 | GUCY2D | c.2864A>G (p.Asp955Gly)
| dbSNP |
17 | g.8015422A>T | CA397954669 | GUCY2D | c.2864A>T (p.Asp955Val)
| |
17 | g.8015423C>A | CA397954670 | GUCY2D | c.2865C>A (p.Asp955Glu)
| |
17 | g.8015423C= | CA2246119934 | GUCY2D | c.2865C= (p.Asp955=)
| |
17 | g.8015423C>G | CA397954671 | GUCY2D | c.2865C>G (p.Asp955Glu)
| |
17 | g.8015423C>T | CA497753672 | GUCY2D | c.2865C>T (p.Asp955=)
| dbSNP |
17 | g.8015424A= | CA2246119938 | GUCY2D | c.2866A= (p.Ile956=)
| |
17 | g.8015424A>C | CA397954673 | GUCY2D | c.2866A>C (p.Ile956Leu)
| |
17 | g.8015424A>G | CA397954674 | GUCY2D | c.2866A>G (p.Ile956Val)
| |
17 | g.8015424A>T | CA397954672 | GUCY2D | c.2866A>T (p.Ile956Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015425T>A | CA397954675 | GUCY2D | c.2867T>A (p.Ile956Asn)
| ClinVar |
17 | g.8015425T>C | CA397954676 | GUCY2D | c.2867T>C (p.Ile956Thr)
| |
17 | g.8015425T>G | CA397954677 | GUCY2D | c.2867T>G (p.Ile956Ser)
| gnomAD v4 |
17 | g.8015426C>A | CA497753674 | GUCY2D | c.2868C>A (p.Ile956=)
| |
17 | g.8015426C>G | CA397954678 | GUCY2D | c.2868C>G (p.Ile956Met)
| |
17 | g.8015426C>T | CA497753673 | GUCY2D | c.2868C>T (p.Ile956=)
| gnomAD v4 |