Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.147830564_147831899del | CA2695198784 | SPINK1 | c.-191-129_56-932del c.-224-96_56-932del | ClinVar |
5 | g.147831540_147831542delinsACG | CA2580073060 | SPINK1 | c.36_38delinsCGT (p.Leu12_Ala13delinsPheVal) | ClinVar |
5 | g.147831541C>A | CA361885515 | SPINK1 | c.37G>T (p.Ala13Ser) | |
5 | g.147831541C>G | CA361885516 | SPINK1 | c.37G>C (p.Ala13Pro) | |
5 | g.147831541C>T | CA361885517 | SPINK1 | c.37G>A (p.Ala13Thr) | COSMIC |
5 | g.147831542C>A | CA361885518 | SPINK1 | c.36G>T (p.Leu12Phe) | |
5 | g.147831542C= | CA1589764824 | SPINK1 | c.36G= (p.Leu12=) | |
5 | g.147831542C>G | CA260530 | SPINK1 | c.36G>C (p.Leu12Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831542C>T | CA447017904 | SPINK1 | c.36G>A (p.Leu12=) | |
5 | g.147831543A>C | CA361885521 | SPINK1 | c.35T>G (p.Leu12Trp) | |
5 | g.147831543A>G | CA361885520 | SPINK1 | c.35T>C (p.Leu12Ser) | ClinVar |
5 | g.147831543A>T | CA361885519 | SPINK1 | c.35T>A (p.Leu12Ter) | |
5 | g.147831544A>C | CA361885522 | SPINK1 | c.34T>G (p.Leu12Val) | |
5 | g.147831544A>G | CA447017905 | SPINK1 | c.34T>C (p.Leu12=) | |
5 | g.147831544A>T | CA361885523 | SPINK1 | c.34T>A (p.Leu12Met) | |
5 | g.147831545G>A | CA3494828 | SPINK1 | c.33C>T (p.Ala11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831545G>C | CA447017906 | SPINK1 | c.33C>G (p.Ala11=) | |
5 | g.147831545G= | CA1589764825 | SPINK1 | c.33C= (p.Ala11=) | |
5 | g.147831545G>T | CA447017907 | SPINK1 | c.33C>A (p.Ala11=) | |
5 | g.147831546G>A | CA361885524 | SPINK1 | c.32C>T (p.Ala11Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831546G>C | CA361885525 | SPINK1 | c.32C>G (p.Ala11Gly) | |
5 | g.147831546G= | CA1589764826 | SPINK1 | c.32C= (p.Ala11=) | |
5 | g.147831546G>T | CA361885526 | SPINK1 | c.32C>A (p.Ala11Asp) | |
5 | g.147831547C>A | CA361885527 | SPINK1 | c.31G>T (p.Ala11Ser) | |
5 | g.147831547C= | CA1589764827 | SPINK1 | c.31G= (p.Ala11=) | |
5 | g.147831547C>G | CA361885528 | SPINK1 | c.31G>C (p.Ala11Pro) | |
5 | g.147831547C>T | CA3494829 | SPINK1 | c.31G>A (p.Ala11Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.147831548A= | CA1589764828 | SPINK1 | c.30T= (p.Ser10=) | |
5 | g.147831548A>C | CA361885529 | SPINK1 | c.30T>G (p.Ser10Arg) | |
5 | g.147831548A>G | CA447017908 | SPINK1 | c.30T>C (p.Ser10=) | dbSNP gnomAD v2 |
5 | g.147831548A>T | CA361885530 | SPINK1 | c.30T>A (p.Ser10Arg) | ClinVar |
5 | g.147831548dup | CA2768825478 | SPINK1 | c.30dup (p.Ala11CysfsTer10) | |
5 | g.147831549C>A | CA361885531 | SPINK1 | c.29G>T (p.Ser10Ile) | |
5 | g.147831549C= | CA1589764829 | SPINK1 | c.29G= (p.Ser10=) | |
5 | g.147831549C>G | CA361885532 | SPINK1 | c.29G>C (p.Ser10Thr) | |
5 | g.147831549C>T | CA3494830 | SPINK1 | c.29G>A (p.Ser10Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831550T>A | CA361885535 | SPINK1 | c.28A>T (p.Ser10Cys) | |
5 | g.147831550T>C | CA361885534 | SPINK1 | c.28A>G (p.Ser10Gly) | |
5 | g.147831550T>G | CA361885533 | SPINK1 | c.28A>C (p.Ser10Arg) | |
5 | g.147831550_147831551delinsTG | CA1589764830 | SPINK1 | c.27_28delinsCA (p.Leu9=) | |
5 | g.147831551del | CA342889 | SPINK1 | c.27del (p.Ser10ValfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831551G>A | CA447017910 | SPINK1 | c.27C>T (p.Leu9=) | COSMIC |
5 | g.147831551G>C | CA447017911 | SPINK1 | c.27C>G (p.Leu9=) | |
5 | g.147831551G>T | CA447017909 | SPINK1 | c.27C>A (p.Leu9=) | |
5 | g.147831552del | CA361885539 | SPINK1 | c.26del (p.Leu9ProfsTer7) | |
5 | g.147831552A>C | CA361885536 | SPINK1 | c.26T>G (p.Leu9Arg) | ClinVar |
5 | g.147831552A>G | CA361885537 | SPINK1 | c.26T>C (p.Leu9Pro) | ClinVar gnomAD v4 |
5 | g.147831552A>T | CA361885538 | SPINK1 | c.26T>A (p.Leu9His) | |
5 | g.147831553G>A | CA361885540 | SPINK1 | c.25C>T (p.Leu9Phe) | gnomAD v4 |
5 | g.147831553G>C | CA361885541 | SPINK1 | c.25C>G (p.Leu9Val) | ClinVar dbSNP |
5 | g.147831553G= | CA1589764831 | SPINK1 | c.25C= (p.Leu9=) | |
5 | g.147831553G>T | CA361885542 | SPINK1 | c.25C>A (p.Leu9Ile) | |
5 | g.147831554A>C | CA447017914 | SPINK1 | c.24T>G (p.Leu8=) | |
5 | g.147831554A>G | CA447017913 | SPINK1 | c.24T>C (p.Leu8=) | |
5 | g.147831554A>T | CA447017912 | SPINK1 | c.24T>A (p.Leu8=) | |
5 | g.147831555A>C | CA361885543 | SPINK1 | c.23T>G (p.Leu8Arg) | |
5 | g.147831555A>G | CA361885544 | SPINK1 | c.23T>C (p.Leu8Pro) | ClinVar |
5 | g.147831555A>T | CA361885545 | SPINK1 | c.23T>A (p.Leu8His) | |
5 | g.147831556G>A | CA361885546 | SPINK1 | c.22C>T (p.Leu8Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.147831556G>C | CA361885547 | SPINK1 | c.22C>G (p.Leu8Val) | |
5 | g.147831556G= | CA1589764832 | SPINK1 | c.22C= (p.Leu8=) | |
5 | g.147831556G>T | CA361885548 | SPINK1 | c.22C>A (p.Leu8Ile) | dbSNP |
5 | g.147831557A>C | CA361885550 | SPINK1 | c.21T>G (p.Phe7Leu) | |
5 | g.147831557A>G | CA447017915 | SPINK1 | c.21T>C (p.Phe7=) | |
5 | g.147831557A>T | CA361885549 | SPINK1 | c.21T>A (p.Phe7Leu) | |
5 | g.147831558A>C | CA361885551 | SPINK1 | c.20T>G (p.Phe7Cys) | |
5 | g.147831558A>G | CA361885552 | SPINK1 | c.20T>C (p.Phe7Ser) | |
5 | g.147831558A>T | CA361885553 | SPINK1 | c.20T>A (p.Phe7Tyr) | |
5 | g.147831559A= | CA1589764833 | SPINK1 | c.19T= (p.Phe7=) | |
5 | g.147831559A>C | CA361885554 | SPINK1 | c.19T>G (p.Phe7Val) | |
5 | g.147831559A>G | CA361885555 | SPINK1 | c.19T>C (p.Phe7Leu) | dbSNP |
5 | g.147831559A>T | CA129690370 | SPINK1 | c.19T>A (p.Phe7Ile) | ClinVar dbSNP |
5 | g.147831560G>A | CA447017916 | SPINK1 | c.18C>T (p.Ile6=) | |
5 | g.147831560G>C | CA361885556 | SPINK1 | c.18C>G (p.Ile6Met) | |
5 | g.147831560G>T | CA447017917 | SPINK1 | c.18C>A (p.Ile6=) | |
5 | g.147831561A>C | CA361885557 | SPINK1 | c.17T>G (p.Ile6Ser) | |
5 | g.147831561A>G | CA361885558 | SPINK1 | c.17T>C (p.Ile6Thr) | gnomAD v4 |
5 | g.147831561A>T | CA361885559 | SPINK1 | c.17T>A (p.Ile6Asn) | |
5 | g.147831562T>A | CA361885560 | SPINK1 | c.16A>T (p.Ile6Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.147831562T>C | CA361885561 | SPINK1 | c.16A>G (p.Ile6Val) | dbSNP |
5 | g.147831562T>G | CA361885562 | SPINK1 | c.16A>C (p.Ile6Leu) | |
5 | g.147831562T= | CA1589764834 | SPINK1 | c.16A= (p.Ile6=) | |
5 | g.147831563G>A | CA447017918 | SPINK1 | c.15C>T (p.Gly5=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831563G>C | CA447017919 | SPINK1 | c.15C>G (p.Gly5=) | dbSNP |
5 | g.147831563G= | CA1589764835 | SPINK1 | c.15C= (p.Gly5=) | |
5 | g.147831563G>T | CA447017920 | SPINK1 | c.15C>A (p.Gly5=) | |
5 | g.147831564C>A | CA361885563 | SPINK1 | c.14G>T (p.Gly5Val) | |
5 | g.147831564C= | CA1589764836 | SPINK1 | c.14G= (p.Gly5=) | |
5 | g.147831564C>G | CA361885564 | SPINK1 | c.14G>C (p.Gly5Ala) | gnomAD v4 |
5 | g.147831564C>T | CA3494831 | SPINK1 | c.14G>A (p.Gly5Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.147831565C>A | CA361885565 | SPINK1 | c.13G>T (p.Gly5Cys) | gnomAD v4 |
5 | g.147831565C= | CA1589764837 | SPINK1 | c.13G= (p.Gly5=) | |
5 | g.147831565C>G | CA361885567 | SPINK1 | c.13G>C (p.Gly5Arg) | |
5 | g.147831565C>T | CA361885566 | SPINK1 | c.13G>A (p.Gly5Ser) | dbSNP |
5 | g.147831566T>A | CA447017921 | SPINK1 | c.12A>T (p.Thr4=) | |
5 | g.147831566T>C | CA447017922 | SPINK1 | c.12A>G (p.Thr4=) | |
5 | g.147831566T>G | CA447017923 | SPINK1 | c.12A>C (p.Thr4=) | |
5 | g.147831566_147831584delinsTGTTACCTTCATGGCTGAA | CA1589764838 | SPINK1 | c.-7_12delinsTTCAGCCATGAAGGTAACA | |
5 | g.147831567G>A | CA361885568 | SPINK1 | c.11C>T (p.Thr4Ile) | |
5 | g.147831567G>C | CA361885569 | SPINK1 | c.11C>G (p.Thr4Arg) | |
5 | g.147831567G>T | CA361885570 | SPINK1 | c.11C>A (p.Thr4Lys) | |
5 | g.147831570_147831587del | CA1589764839 | SPINK1 | c.-7_11del | dbSNP |
5 | g.147831568T>A | CA361885571 | SPINK1 | c.10A>T (p.Thr4Ser) | |
5 | g.147831568T>C | CA361885572 | SPINK1 | c.10A>G (p.Thr4Ala) | |
5 | g.147831568T>G | CA361885573 | SPINK1 | c.10A>C (p.Thr4Pro) | |
5 | g.147831569T>A | CA447017924 | SPINK1 | c.9A>T (p.Val3=) | |
5 | g.147831569T>C | CA447017925 | SPINK1 | c.9A>G (p.Val3=) | |
5 | g.147831569T>G | CA447017926 | SPINK1 | c.9A>C (p.Val3=) | ClinVar |
5 | g.147831570A= | CA1589764840 | SPINK1 | c.8T= (p.Val3=) | |
5 | g.147831570A>C | CA361885574 | SPINK1 | c.8T>G (p.Val3Gly) | |
5 | g.147831570A>G | CA3494832 | SPINK1 | c.8T>C (p.Val3Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831570A>T | CA361885575 | SPINK1 | c.8T>A (p.Val3Glu) | |
5 | g.147831571C>A | CA361885576 | SPINK1 | c.7G>T (p.Val3Leu) | |
5 | g.147831571C= | CA1589764841 | SPINK1 | c.7G= (p.Val3=) | |
5 | g.147831571C>G | CA361885577 | SPINK1 | c.7G>C (p.Val3Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.147831571C>T | CA361885578 | SPINK1 | c.7G>A (p.Val3Ile) | ClinVar gnomAD v4 |
5 | g.147831572C>A | CA361885579 | SPINK1 | c.6G>T (p.Lys2Asn) | |
5 | g.147831572C= | CA1589764842 | SPINK1 | c.6G= (p.Lys2=) | |
5 | g.147831572C>G | CA129690371 | SPINK1 | c.6G>C (p.Lys2Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.147831572C>T | CA447017927 | SPINK1 | c.6G>A (p.Lys2=) | ClinVar dbSNP |
5 | g.147831573T>A | CA361885580 | SPINK1 | c.5A>T (p.Lys2Met) | |
5 | g.147831573T>C | CA3494833 | SPINK1 | c.5A>G (p.Lys2Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.147831573T>G | CA361885581 | SPINK1 | c.5A>C (p.Lys2Thr) | gnomAD v4 |
5 | g.147831573T= | CA1589764843 | SPINK1 | c.5A= (p.Lys2=) | |
5 | g.147831573_147831574insC | CA2768825479 | SPINK1 | c.4_5insG (p.Lys2ArgfsTer19) | |
5 | g.147831574T>A | CA361885582 | SPINK1 | c.4A>T (p.Lys2Ter) | |
5 | g.147831574T>C | CA361885583 | SPINK1 | c.4A>G (p.Lys2Glu) | |
5 | g.147831574T>G | CA361885584 | SPINK1 | c.4A>C (p.Lys2Gln) | |
5 | g.147831575C>A | CA361885585 | SPINK1 | c.3G>T (p.Met1Ile) | |
5 | g.147831575C= | CA1589764844 | SPINK1 | c.3G= (p.Met1=) | |
5 | g.147831575C>G | CA361885586 | SPINK1 | c.3G>C (p.Met1Ile) | |
5 | g.147831575C>T | CA361885587 | SPINK1 | c.3G>A (p.Met1Ile) | |
5 | g.147831575_147831576insT | CA563737652 | SPINK1 | c.2_3insA (p.Met1IlefsTer20) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.147831576A= | CA1589764845 | SPINK1 | c.2T= (p.Met1=) | |
5 | g.147831576A>C | CA361885588 | SPINK1 | c.2T>G (p.Met1Arg) | ClinVar dbSNP gnomAD v4 |
5 | g.147831576A>G | CA256959 | SPINK1 | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
5 | g.147831576A>T | CA361885589 | SPINK1 | c.2T>A (p.Met1Lys) | |
5 | g.147831577T>A | CA361885591 | SPINK1 | c.1A>T (p.Met1Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.147831577T>C | CA129690372 | SPINK1 | c.1A>G (p.Met1Val) | dbSNP |
5 | g.147831577T>G | CA361885590 | SPINK1 | c.1A>C (p.Met1Leu) | |
5 | g.147831577T= | CA1589764846 | SPINK1 | c.1A= (p.Met1=) | |
5 | g.147831578G>A | CA2578442991 | SPINK1 | c.-1C>T (n.-1C>T) | gnomAD v4 |
5 | g.147831578G>T | CA2580614763 | SPINK1 | c.-1C>A (n.-1C>A) | ClinVar |
5 | g.147831579G>A | CA2675849744 | SPINK1 | c.-2C>T (n.-2C>T) | gnomAD v4 |
5 | g.147831579G= | CA1589764847 | SPINK1 | c.-2C= (n.-2C=) | |
5 | g.147831579G>T | CA3494834 | SPINK1 | c.-2C>A (n.-2C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.147831582G>A | CA129690373 | SPINK1 | c.-5C>T (n.-5C>T) | dbSNP gnomAD v4 |
5 | g.147831582G= | CA1589764848 | SPINK1 | c.-5C= (n.-5C=) | |
5 | g.147831584A= | CA1589764849 | SPINK1 | c.-7T= (n.-7T=) | |
5 | g.147831584A>G | CA1589764850 | SPINK1 | c.-7T>C (n.-7T>C) | dbSNP |
5 | g.147831585G>A | CA3494835 | SPINK1 | c.-8C>T (n.-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831585G= | CA1589764851 | SPINK1 | c.-8C= (n.-8C=) | |
5 | g.147831585G>T | CA2675849745 | SPINK1 | c.-8C>A (n.-8C>A) | gnomAD v4 |
5 | g.147831589T>G | CA1082704787 | SPINK1 | c.-12A>C (n.-12A>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.147831589T= | CA1589764852 | SPINK1 | c.-12A= (n.-12A=) | |
5 | g.147831591C= | CA1589764853 | SPINK1 | c.-14G= (n.-14G=) | |
5 | g.147831591C>T | CA3494836 | SPINK1 | c.-14G>A (n.-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831592G>A | CA3494838 | SPINK1 | c.-15C>T (n.-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831592G>C | CA805371970 | SPINK1 | c.-15C>G (n.-15C>G) | dbSNP |
5 | g.147831592G= | CA1589764854 | SPINK1 | c.-15C= (n.-15C=) | |
5 | g.147831592G>T | CA3494837 | SPINK1 | c.-15C>A (n.-15C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831594C= | CA1589764856 | SPINK1 | c.-17G= (n.-17G=) | |
5 | g.147831594C>G | CA1589764855 | SPINK1 | c.-17G>C (n.-17G>C) | dbSNP |
5 | g.147831594C>T | CA3494839 | SPINK1 | c.-17G>A (n.-17G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831597G>A | CA3494840 | SPINK1 | c.-20C>T (n.-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831597G>C | CA1589764858 | SPINK1 | c.-20C>G (n.-20C>G) | dbSNP |
5 | g.147831597G= | CA1589764857 | SPINK1 | c.-20C= (n.-20C=) | |
5 | g.147831598A= | CA1589764859 | SPINK1 | c.-21T= (n.-21T=) | |
5 | g.147831598A>G | CA805371976 | SPINK1 | c.-21T>C (n.-21T>C) | dbSNP |
5 | g.147831599G>A | CA3494841 | SPINK1 | c.-22C>T (n.-22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831599G= | CA1589764860 | SPINK1 | c.-22C= (n.-22C=) | |
5 | g.147831600del | CA2768825480 | SPINK1 | c.-22del (n.-22del) | |
5 | g.147831600G>A | CA2675849746 | SPINK1 | c.-23C>T (n.-23C>T) | gnomAD v4 |
5 | g.147831600G>C | CA2564040020 | SPINK1 | c.-23C>G (n.-23C>G) | gnomAD v4 |
5 | g.147831601T>A | CA1589764862 | SPINK1 | c.-24A>T (n.-24A>T) | dbSNP |
5 | g.147831601T= | CA1589764861 | SPINK1 | c.-24A= (n.-24A=) | |
5 | g.147831602C>A | CA2675849747 | SPINK1 | c.-25G>T (n.-25G>T) | gnomAD v4 |
5 | g.147831603A>G | CA2839095750 | SPINK1 | c.-26T>C (n.-26T>C) | |
5 | g.147831604G>A | CA1589764864 | SPINK1 | c.-27C>T (n.-27C>T) | dbSNP |
5 | g.147831604G= | CA1589764863 | SPINK1 | c.-27C= (n.-27C=) | |
5 | g.147831605T>A | CA1589764865 | SPINK1 | c.-28A>T (n.-28A>T) | dbSNP |
5 | g.147831605T>C | CA3494842 | SPINK1 | c.-28A>G (n.-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.147831605T= | CA1589764866 | SPINK1 | c.-28A= (n.-28A=) | |
5 | g.147831607G>A | CA563737657 | SPINK1 | c.-30C>T (n.-30C>T) | dbSNP gnomAD v2 |
5 | g.147831607G= | CA1589764867 | SPINK1 | c.-30C= (n.-30C=) | |
5 | g.147831611del | CA2534085684 | SPINK1 | c.-31del (n.-31del) | |
5 | g.147831610A= | CA1589764868 | SPINK1 | c.-33T= (n.-33T=) | |
5 | g.147831610A>T | CA563737659 | SPINK1 | c.-33T>A (n.-33T>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.147831611A>G | CA2675849748 | SPINK1 | c.-34T>C (n.-34T>C) | gnomAD v4 |
5 | g.147831611A>T | CA2578442992 | SPINK1 | c.-34T>A (n.-34T>A) | |
5 | g.147831612C>T | CA2768825481 | SPINK1 | c.-35G>A (n.-35G>A) | |
5 | g.147831613T>A | CA805371998 | SPINK1 | c.-36A>T (n.-36A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.147831613T>C | CA2675849749 | SPINK1 | c.-36A>G (n.-36A>G) | gnomAD v4 |
5 | g.147831613T= | CA1589764869 | SPINK1 | c.-36A= (n.-36A=) | |
5 | g.147831614G>A | CA1589764871 | SPINK1 | c.-37C>T (n.-37C>T) | dbSNP |
5 | g.147831614G= | CA1589764870 | SPINK1 | c.-37C= (n.-37C=) | |
5 | g.147831614G>T | CA2675849750 | SPINK1 | c.-37C>A (n.-37C>A) | gnomAD v4 |
5 | g.147831614_147831615insTTTTGACCTGTTGCTTTGTGAAGCA | CA917605015 | SPINK1 | c.-38_-37insTGCTTCACAAAGCAACAGGTCAAAA (n.-38_-37insTGCTTCACAAAGCAACAGGTCAAAA) | dbSNP |
5 | g.147831615C= | CA1589764872 | SPINK1 | c.-38G= (n.-38G=) | |
5 | g.147831615C>T | CA129690374 | SPINK1 | c.-38G>A (n.-38G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.147831617C= | CA1589764873 | SPINK1 | c.-40G= (n.-40G=) | |
5 | g.147831617C>G | CA2675849751 | SPINK1 | c.-40G>C (n.-40G>C) | gnomAD v4 |
5 | g.147831617C>T | CA3494843 | SPINK1 | c.-40G>A (n.-40G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831618C>A | CA2581464056 | SPINK1 | c.-41G>T (n.-41G>T) | gnomAD v4 |
5 | g.147831618C= | CA1589764874 | SPINK1 | c.-41G= (n.-41G=) | |
5 | g.147831618C>G | CA2581464057 | SPINK1 | c.-41G>C (n.-41G>C) | |
5 | g.147831618C>T | CA3494844 | SPINK1 | c.-41G>A (n.-41G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831619G>A | CA3494845 | SPINK1 | c.-42C>T (n.-42C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831619G= | CA1589764875 | SPINK1 | c.-42C= (n.-42C=) | |
5 | g.147831619G>T | CA3494846 | SPINK1 | c.-42C>A (n.-42C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831620C= | CA1589764876 | SPINK1 | c.-43G= (n.-43G=) | |
5 | g.147831620C>T | CA3494847 | SPINK1 | c.-43G>A (n.-43G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831621A= | CA1589764877 | SPINK1 | c.-44T= (n.-44T=) | |
5 | g.147831621A>C | CA805372024 | SPINK1 | c.-44T>G (n.-44T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.147831621A>G | CA563737664 | SPINK1 | c.-44T>C (n.-44T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.147831622C>A | CA2675849752 | SPINK1 | c.-45G>T (n.-45G>T) | gnomAD v4 |
5 | g.147831622C= | CA1589764878 | SPINK1 | c.-45G= (n.-45G=) | |
5 | g.147831622C>T | CA3494849 | SPINK1 | c.-45G>A (n.-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.147831624dup | CA3494848 | SPINK1 | c.-46dup (n.-46dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831625dup | CA2578442993 | SPINK1 | c.-48dup (n.-48dup) | gnomAD v4 |
5 | g.147831627C>A | CA1589764879 | SPINK1 | c.-50G>T (n.-50G>T) | dbSNP |
5 | g.147831627C= | CA1589764880 | SPINK1 | c.-50G= (n.-50G=) | |
5 | g.147831627C>T | CA3494850 | SPINK1 | c.-50G>A (n.-50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.147831628A>G | CA2838431461 | SPINK1 | c.-51T>C (n.-51T>C) | |
5 | g.147831629C>A | CA1589764882 | SPINK1 | c.-52G>T (n.-52G>T) | dbSNP gnomAD v4 |
5 | g.147831629C= | CA1589764881 | SPINK1 | c.-52G= (n.-52G=) | |
5 | g.147831629C>G | CA2675849753 | SPINK1 | c.-52G>C (n.-52G>C) | gnomAD v4 |
5 | g.147831629C>T | CA3494851 | SPINK1 | c.-52G>A (n.-52G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831630G>A | CA129690375 | SPINK1 | c.-53C>T (n.-53C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.147831630G= | CA1589764883 | SPINK1 | c.-53C= (n.-53C=) | |
5 | g.147831630G>T | CA1589764884 | SPINK1 | c.-53C>A (n.-53C>A) | dbSNP gnomAD v4 |
5 | g.147831632C>A | CA2675849754 | SPINK1 | c.-55G>T (n.-55G>T) | gnomAD v4 |
5 | g.147831632C>G | CA2675849755 | SPINK1 | c.-55G>C (n.-55G>C) | gnomAD v4 |
5 | g.147831632C>T | CA2675849756 | SPINK1 | c.-55G>A (n.-55G>A) | gnomAD v4 |
5 | g.147831633T>C | CA2675849757 | SPINK1 | c.-56A>G (n.-56A>G) | gnomAD v4 |
5 | g.147831634C>A | CA2675849758 | SPINK1 | c.-57G>T (n.-57G>T) | gnomAD v4 |
5 | g.147831635T>C | CA2675849759 | SPINK1 | c.-58A>G (n.-58A>G) | gnomAD v4 |
5 | g.147831637C>A | CA2675849760 | SPINK1 | c.-60G>T (n.-60G>T) | gnomAD v4 |
5 | g.147831638A>G | CA2578442994 | SPINK1 | c.-61T>C (n.-61T>C) | gnomAD v4 |
5 | g.147831639G>A | CA1589764886 | SPINK1 | c.-62C>T (n.-62C>T) | dbSNP gnomAD v4 |
5 | g.147831639G= | CA1589764885 | SPINK1 | c.-62C= (n.-62C=) | |
5 | g.147831641A>G | CA2675849761 | SPINK1 | c.-64T>C (n.-64T>C) | gnomAD v4 |