Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.148125554G>ACA361649282SPINK5c.2740-169G>A (n.2740-169G>A)
c.2770G>A (p.Glu924Lys)
c.2713G>A (p.Glu905Lys)
c.2686G>A (p.Glu896Lys)
5g.148125554G>CCA361649283SPINK5c.2740-169G>C (n.2740-169G>C)
c.2770G>C (p.Glu924Gln)
c.2713G>C (p.Glu905Gln)
c.2686G>C (p.Glu896Gln)
5g.148125554G>TCA361649285SPINK5c.2740-169G>T (n.2740-169G>T)
c.2770G>T (p.Glu924Ter)
c.2713G>T (p.Glu905Ter)
c.2686G>T (p.Glu896Ter)
5g.148125555A>CCA361649288SPINK5c.2740-168A>C (n.2740-168A>C)
c.2771A>C (p.Glu924Ala)
c.2714A>C (p.Glu905Ala)
c.2687A>C (p.Glu896Ala)
5g.148125555A>GCA361649289SPINK5c.2740-168A>G (n.2740-168A>G)
c.2771A>G (p.Glu924Gly)
c.2714A>G (p.Glu905Gly)
c.2687A>G (p.Glu896Gly)
5g.148125555A>TCA361649290SPINK5c.2740-168A>T (n.2740-168A>T)
c.2771A>T (p.Glu924Val)
c.2714A>T (p.Glu905Val)
c.2687A>T (p.Glu896Val)
5g.148125556G>ACA446937711SPINK5c.2740-167G>A (n.2740-167G>A)
c.2772G>A (p.Glu924=)
c.2715G>A (p.Glu905=)
c.2688G>A (p.Glu896=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125556G>CCA361649291SPINK5c.2740-167G>C (n.2740-167G>C)
c.2772G>C (p.Glu924Asp)
c.2715G>C (p.Glu905Asp)
c.2688G>C (p.Glu896Asp)
5g.148125556G=CA1589900459SPINK5c.2740-167G= (n.2740-167G=)
c.2772G= (p.Glu924=)
c.2715G= (p.Glu905=)
c.2688G= (p.Glu896=)
5g.148125556G>TCA361649295SPINK5c.2740-167G>T (n.2740-167G>T)
c.2772G>T (p.Glu924Asp)
c.2715G>T (p.Glu905Asp)
c.2688G>T (p.Glu896Asp)
5g.148125557G>ACA361649301SPINK5c.2740-166G>A (n.2740-166G>A)
c.2773G>A (p.Asp925Asn)
c.2716G>A (p.Asp906Asn)
c.2689G>A (p.Asp897Asn)
5g.148125557G>CCA361649309SPINK5c.2740-166G>C (n.2740-166G>C)
c.2773G>C (p.Asp925His)
c.2716G>C (p.Asp906His)
c.2689G>C (p.Asp897His)
5g.148125557G>TCA361649303SPINK5c.2740-166G>T (n.2740-166G>T)
c.2773G>T (p.Asp925Tyr)
c.2716G>T (p.Asp906Tyr)
c.2689G>T (p.Asp897Tyr)
5g.148125558A=CA1589900460SPINK5c.2740-165A= (n.2740-165A=)
c.2774A= (p.Asp925=)
c.2717A= (p.Asp906=)
c.2690A= (p.Asp897=)
5g.148125558A>CCA361649312SPINK5c.2740-165A>C (n.2740-165A>C)
c.2774A>C (p.Asp925Ala)
c.2717A>C (p.Asp906Ala)
c.2690A>C (p.Asp897Ala)
5g.148125558A>GCA361649314SPINK5c.2740-165A>G (n.2740-165A>G)
c.2774A>G (p.Asp925Gly)
c.2717A>G (p.Asp906Gly)
c.2690A>G (p.Asp897Gly)
 dbSNP
5g.148125558A>TCA361649313SPINK5c.2740-165A>T (n.2740-165A>T)
c.2774A>T (p.Asp925Val)
c.2717A>T (p.Asp906Val)
c.2690A>T (p.Asp897Val)
5g.148125559T>ACA361649315SPINK5c.2740-164T>A (n.2740-164T>A)
c.2775T>A (p.Asp925Glu)
c.2718T>A (p.Asp906Glu)
c.2691T>A (p.Asp897Glu)
 dbSNP gnomAD v4
5g.148125559T>CCA446937712SPINK5c.2740-164T>C (n.2740-164T>C)
c.2775T>C (p.Asp925=)
c.2718T>C (p.Asp906=)
c.2691T>C (p.Asp897=)
 gnomAD v4
5g.148125559T>GCA3496112SPINK5c.2740-164T>G (n.2740-164T>G)
c.2775T>G (p.Asp925Glu)
c.2718T>G (p.Asp906Glu)
c.2691T>G (p.Asp897Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125559T=CA1589900461SPINK5c.2740-164T= (n.2740-164T=)
c.2775T= (p.Asp925=)
c.2718T= (p.Asp906=)
c.2691T= (p.Asp897=)
5g.148125560G>ACA361649318SPINK5c.2740-163G>A (n.2740-163G>A)
c.2776G>A (p.Ala926Thr)
c.2719G>A (p.Ala907Thr)
c.2692G>A (p.Ala898Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.148125560G>CCA361649343SPINK5c.2740-163G>C (n.2740-163G>C)
c.2776G>C (p.Ala926Pro)
c.2719G>C (p.Ala907Pro)
c.2692G>C (p.Ala898Pro)
5g.148125560G=CA1589900462SPINK5c.2740-163G= (n.2740-163G=)
c.2776G= (p.Ala926=)
c.2719G= (p.Ala907=)
c.2692G= (p.Ala898=)
5g.148125560G>TCA361649333SPINK5c.2740-163G>T (n.2740-163G>T)
c.2776G>T (p.Ala926Ser)
c.2719G>T (p.Ala907Ser)
c.2692G>T (p.Ala898Ser)
5g.148125561C>ACA361649347SPINK5c.2740-162C>A (n.2740-162C>A)
c.2777C>A (p.Ala926Glu)
c.2720C>A (p.Ala907Glu)
c.2693C>A (p.Ala898Glu)
 gnomAD v4
5g.148125561C>GCA361649356SPINK5c.2740-162C>G (n.2740-162C>G)
c.2777C>G (p.Ala926Gly)
c.2720C>G (p.Ala907Gly)
c.2693C>G (p.Ala898Gly)
5g.148125561C>TCA361649350SPINK5c.2740-162C>T (n.2740-162C>T)
c.2777C>T (p.Ala926Val)
c.2720C>T (p.Ala907Val)
c.2693C>T (p.Ala898Val)
5g.148125562A>CCA446937713SPINK5c.2740-161A>C (n.2740-161A>C)
c.2778A>C (p.Ala926=)
c.2721A>C (p.Ala907=)
c.2694A>C (p.Ala898=)
5g.148125562A>GCA446937714SPINK5c.2740-161A>G (n.2740-161A>G)
c.2778A>G (p.Ala926=)
c.2721A>G (p.Ala907=)
c.2694A>G (p.Ala898=)
5g.148125562A>TCA446937715SPINK5c.2740-161A>T (n.2740-161A>T)
c.2778A>T (p.Ala926=)
c.2721A>T (p.Ala907=)
c.2694A>T (p.Ala898=)
5g.148125563A=CA1589900463SPINK5c.2740-160A= (n.2740-160A=)
c.2779A= (p.Lys927=)
c.2722A= (p.Lys908=)
c.2695A= (p.Lys899=)
5g.148125563A>CCA3496113SPINK5c.2740-160A>C (n.2740-160A>C)
c.2779A>C (p.Lys927Gln)
c.2722A>C (p.Lys908Gln)
c.2695A>C (p.Lys899Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125563A>GCA361649367SPINK5c.2740-160A>G (n.2740-160A>G)
c.2779A>G (p.Lys927Glu)
c.2722A>G (p.Lys908Glu)
c.2695A>G (p.Lys899Glu)
5g.148125563A>TCA361649361SPINK5c.2740-160A>T (n.2740-160A>T)
c.2779A>T (p.Lys927Ter)
c.2722A>T (p.Lys908Ter)
c.2695A>T (p.Lys899Ter)
5g.148125564A>CCA361649372SPINK5c.2740-159A>C (n.2740-159A>C)
c.2780A>C (p.Lys927Thr)
c.2723A>C (p.Lys908Thr)
c.2696A>C (p.Lys899Thr)
5g.148125564A>GCA361649389SPINK5c.2740-159A>G (n.2740-159A>G)
c.2780A>G (p.Lys927Arg)
c.2723A>G (p.Lys908Arg)
c.2696A>G (p.Lys899Arg)
5g.148125564A>TCA361649392SPINK5c.2740-159A>T (n.2740-159A>T)
c.2780A>T (p.Lys927Ile)
c.2723A>T (p.Lys908Ile)
c.2696A>T (p.Lys899Ile)
5g.148125565A>CCA361649399SPINK5c.2740-158A>C (n.2740-158A>C)
c.2781A>C (p.Lys927Asn)
c.2724A>C (p.Lys908Asn)
c.2697A>C (p.Lys899Asn)
5g.148125565A>GCA446937716SPINK5c.2740-158A>G (n.2740-158A>G)
c.2781A>G (p.Lys927=)
c.2724A>G (p.Lys908=)
c.2697A>G (p.Lys899=)
5g.148125565A>TCA361649401SPINK5c.2740-158A>T (n.2740-158A>T)
c.2781A>T (p.Lys927Asn)
c.2724A>T (p.Lys908Asn)
c.2697A>T (p.Lys899Asn)
5g.148125566T>ACA361649404SPINK5c.2740-157T>A (n.2740-157T>A)
c.2782T>A (p.Phe928Ile)
c.2725T>A (p.Phe909Ile)
c.2698T>A (p.Phe900Ile)
5g.148125566T>CCA361649405SPINK5c.2740-157T>C (n.2740-157T>C)
c.2782T>C (p.Phe928Leu)
c.2725T>C (p.Phe909Leu)
c.2698T>C (p.Phe900Leu)
5g.148125566T>GCA361649407SPINK5c.2740-157T>G (n.2740-157T>G)
c.2782T>G (p.Phe928Val)
c.2725T>G (p.Phe909Val)
c.2698T>G (p.Phe900Val)
5g.148125567T>ACA361649409SPINK5c.2740-156T>A (n.2740-156T>A)
c.2783T>A (p.Phe928Tyr)
c.2726T>A (p.Phe909Tyr)
c.2699T>A (p.Phe900Tyr)
5g.148125567T>CCA361649411SPINK5c.2740-156T>C (n.2740-156T>C)
c.2783T>C (p.Phe928Ser)
c.2726T>C (p.Phe909Ser)
c.2699T>C (p.Phe900Ser)
5g.148125567T>GCA361649412SPINK5c.2740-156T>G (n.2740-156T>G)
c.2783T>G (p.Phe928Cys)
c.2726T>G (p.Phe909Cys)
c.2699T>G (p.Phe900Cys)
 gnomAD v4
5g.148125568T>ACA361649422SPINK5c.2740-155T>A (n.2740-155T>A)
c.2784T>A (p.Phe928Leu)
c.2727T>A (p.Phe909Leu)
c.2700T>A (p.Phe900Leu)
5g.148125568T>CCA446937717SPINK5c.2740-155T>C (n.2740-155T>C)
c.2784T>C (p.Phe928=)
c.2727T>C (p.Phe909=)
c.2700T>C (p.Phe900=)
5g.148125568T>GCA361649424SPINK5c.2740-155T>G (n.2740-155T>G)
c.2784T>G (p.Phe928Leu)
c.2727T>G (p.Phe909Leu)
c.2700T>G (p.Phe900Leu)
5g.148125569A>CCA446937718SPINK5c.2740-154A>C (n.2740-154A>C)
c.2785A>C (p.Arg929=)
c.2728A>C (p.Arg910=)
c.2701A>C (p.Arg901=)
5g.148125569A>GCA361649425SPINK5c.2740-154A>G (n.2740-154A>G)
c.2785A>G (p.Arg929Gly)
c.2728A>G (p.Arg910Gly)
c.2701A>G (p.Arg901Gly)
5g.148125569A>TCA361649427SPINK5c.2740-154A>T (n.2740-154A>T)
c.2785A>T (p.Arg929Ter)
c.2728A>T (p.Arg910Ter)
c.2701A>T (p.Arg901Ter)
5g.148125570G>ACA361649433SPINK5c.2740-153G>A (n.2740-153G>A)
c.2786G>A (p.Arg929Lys)
c.2729G>A (p.Arg910Lys)
c.2702G>A (p.Arg901Lys)
 gnomAD v4
5g.148125570G>CCA361649435SPINK5c.2740-153G>C (n.2740-153G>C)
c.2786G>C (p.Arg929Thr)
c.2729G>C (p.Arg910Thr)
c.2702G>C (p.Arg901Thr)
5g.148125570G>TCA361649437SPINK5c.2740-153G>T (n.2740-153G>T)
c.2786G>T (p.Arg929Ile)
c.2729G>T (p.Arg910Ile)
c.2702G>T (p.Arg901Ile)
5g.148125571A=CA1589900464SPINK5c.2740-152A= (n.2740-152A=)
c.2787A= (p.Arg929=)
c.2730A= (p.Arg910=)
c.2703A= (p.Arg901=)
5g.148125571A>CCA361649439SPINK5c.2740-152A>C (n.2740-152A>C)
c.2787A>C (p.Arg929Ser)
c.2730A>C (p.Arg910Ser)
c.2703A>C (p.Arg901Ser)
5g.148125571A>GCA446937719SPINK5c.2740-152A>G (n.2740-152A>G)
c.2787A>G (p.Arg929=)
c.2730A>G (p.Arg910=)
c.2703A>G (p.Arg901=)
 dbSNP gnomAD v2
5g.148125571A>TCA361649440SPINK5c.2740-152A>T (n.2740-152A>T)
c.2787A>T (p.Arg929Ser)
c.2730A>T (p.Arg910Ser)
c.2703A>T (p.Arg901Ser)
5g.148125572C>ACA361649442SPINK5c.2740-151C>A (n.2740-151C>A)
c.2788C>A (p.Gln930Lys)
c.2731C>A (p.Gln911Lys)
c.2704C>A (p.Gln902Lys)
5g.148125572C>GCA361649444SPINK5c.2740-151C>G (n.2740-151C>G)
c.2788C>G (p.Gln930Glu)
c.2731C>G (p.Gln911Glu)
c.2704C>G (p.Gln902Glu)
5g.148125572C>TCA361649446SPINK5c.2740-151C>T (n.2740-151C>T)
c.2788C>T (p.Gln930Ter)
c.2731C>T (p.Gln911Ter)
c.2704C>T (p.Gln902Ter)
5g.148125573A>CCA361649450SPINK5c.2740-150A>C (n.2740-150A>C)
c.2789A>C (p.Gln930Pro)
c.2732A>C (p.Gln911Pro)
c.2705A>C (p.Gln902Pro)
 gnomAD v4
5g.148125573A>GCA361649454SPINK5c.2740-150A>G (n.2740-150A>G)
c.2789A>G (p.Gln930Arg)
c.2732A>G (p.Gln911Arg)
c.2705A>G (p.Gln902Arg)
5g.148125573A>TCA361649449SPINK5c.2740-150A>T (n.2740-150A>T)
c.2789A>T (p.Gln930Leu)
c.2732A>T (p.Gln911Leu)
c.2705A>T (p.Gln902Leu)
 gnomAD v4
5g.148125574A>CCA361649456SPINK5c.2740-149A>C (n.2740-149A>C)
c.2790A>C (p.Gln930His)
c.2733A>C (p.Gln911His)
c.2706A>C (p.Gln902His)
5g.148125574A>GCA446937720SPINK5c.2740-149A>G (n.2740-149A>G)
c.2790A>G (p.Gln930=)
c.2733A>G (p.Gln911=)
c.2706A>G (p.Gln902=)
5g.148125574A>TCA361649457SPINK5c.2740-149A>T (n.2740-149A>T)
c.2790A>T (p.Gln930His)
c.2733A>T (p.Gln911His)
c.2706A>T (p.Gln902His)
5g.148125575C>ACA361649459SPINK5c.2740-148C>A (n.2740-148C>A)
c.2791C>A (p.Pro931Thr)
c.2734C>A (p.Pro912Thr)
c.2707C>A (p.Pro903Thr)
5g.148125575C=CA1589900465SPINK5c.2740-148C= (n.2740-148C=)
c.2791C= (p.Pro931=)
c.2734C= (p.Pro912=)
c.2707C= (p.Pro903=)
5g.148125575C>GCA361649460SPINK5c.2740-148C>G (n.2740-148C>G)
c.2791C>G (p.Pro931Ala)
c.2734C>G (p.Pro912Ala)
c.2707C>G (p.Pro903Ala)
5g.148125575C>TCA361649461SPINK5c.2740-148C>T (n.2740-148C>T)
c.2791C>T (p.Pro931Ser)
c.2734C>T (p.Pro912Ser)
c.2707C>T (p.Pro903Ser)
 dbSNP gnomAD v4
5g.148125576C>ACA361649462SPINK5c.2740-147C>A (n.2740-147C>A)
c.2792C>A (p.Pro931His)
c.2735C>A (p.Pro912His)
c.2708C>A (p.Pro903His)
5g.148125576C=CA1589900466SPINK5c.2740-147C= (n.2740-147C=)
c.2792C= (p.Pro931=)
c.2735C= (p.Pro912=)
c.2708C= (p.Pro903=)
5g.148125576C>GCA361649463SPINK5c.2740-147C>G (n.2740-147C>G)
c.2792C>G (p.Pro931Arg)
c.2735C>G (p.Pro912Arg)
c.2708C>G (p.Pro903Arg)
5g.148125576C>TCA361649464SPINK5c.2740-147C>T (n.2740-147C>T)
c.2792C>T (p.Pro931Leu)
c.2735C>T (p.Pro912Leu)
c.2708C>T (p.Pro903Leu)
 dbSNP gnomAD v2
5g.148125577T>ACA446937721SPINK5c.2740-146T>A (n.2740-146T>A)
c.2793T>A (p.Pro931=)
c.2736T>A (p.Pro912=)
c.2709T>A (p.Pro903=)
5g.148125577T>CCA446937722SPINK5c.2740-146T>C (n.2740-146T>C)
c.2793T>C (p.Pro931=)
c.2736T>C (p.Pro912=)
c.2709T>C (p.Pro903=)
5g.148125577T>GCA446937723SPINK5c.2740-146T>G (n.2740-146T>G)
c.2793T>G (p.Pro931=)
c.2736T>G (p.Pro912=)
c.2709T>G (p.Pro903=)
5g.148125578G>ACA128941174SPINK5c.2740-145G>A (n.2740-145G>A)
c.2794G>A (p.Gly932Arg)
c.2737G>A (p.Gly913Arg)
c.2710G>A (p.Gly904Arg)
 dbSNP
5g.148125578G>CCA361649465SPINK5c.2740-145G>C (n.2740-145G>C)
c.2794G>C (p.Gly932Arg)
c.2737G>C (p.Gly913Arg)
c.2710G>C (p.Gly904Arg)
5g.148125578G=CA1589900467SPINK5c.2740-145G= (n.2740-145G=)
c.2794G= (p.Gly932=)
c.2737G= (p.Gly913=)
c.2710G= (p.Gly904=)
5g.148125578G>TCA361649466SPINK5c.2740-145G>T (n.2740-145G>T)
c.2794G>T (p.Gly932Trp)
c.2737G>T (p.Gly913Trp)
c.2710G>T (p.Gly904Trp)
5g.148125580delCA645565297SPINK5c.2740-143del (n.2740-143del)
c.2796del (p.Arg933ValfsTer9)
c.2739del (p.Arg914ValfsTer9)
c.2712del (p.Arg905ValfsTer9)
 COSMIC
5g.148125579G>ACA361649470SPINK5c.2740-144G>A (n.2740-144G>A)
c.2795G>A (p.Gly932Glu)
c.2738G>A (p.Gly913Glu)
c.2711G>A (p.Gly904Glu)
5g.148125579G>CCA361649471SPINK5c.2740-144G>C (n.2740-144G>C)
c.2795G>C (p.Gly932Ala)
c.2738G>C (p.Gly913Ala)
c.2711G>C (p.Gly904Ala)
5g.148125579G>TCA361649468SPINK5c.2740-144G>T (n.2740-144G>T)
c.2795G>T (p.Gly932Val)
c.2738G>T (p.Gly913Val)
c.2711G>T (p.Gly904Val)
 dbSNP
5g.148125580G>ACA3496114SPINK5c.2740-143G>A (n.2740-143G>A)
c.2796G>A (p.Gly932=)
c.2739G>A (p.Gly913=)
c.2712G>A (p.Gly904=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125580G>CCA446937726SPINK5c.2740-143G>C (n.2740-143G>C)
c.2796G>C (p.Gly932=)
c.2739G>C (p.Gly913=)
c.2712G>C (p.Gly904=)
5g.148125580G=CA1589900468SPINK5c.2740-143G= (n.2740-143G=)
c.2796G= (p.Gly932=)
c.2739G= (p.Gly913=)
c.2712G= (p.Gly904=)
5g.148125580G>TCA446937724SPINK5c.2740-143G>T (n.2740-143G>T)
c.2796G>T (p.Gly932=)
c.2739G>T (p.Gly913=)
c.2712G>T (p.Gly904=)
5g.148125581C>ACA361649472SPINK5c.2740-142C>A (n.2740-142C>A)
c.2797C>A (p.Arg933Ser)
c.2740C>A (p.Arg914Ser)
c.2713C>A (p.Arg905Ser)
 gnomAD v4 COSMIC
5g.148125581C=CA1589900469SPINK5c.2740-142C= (n.2740-142C=)
c.2797C= (p.Arg933=)
c.2740C= (p.Arg914=)
c.2713C= (p.Arg905=)
5g.148125581C>GCA361649473SPINK5c.2740-142C>G (n.2740-142C>G)
c.2797C>G (p.Arg933Gly)
c.2740C>G (p.Arg914Gly)
c.2713C>G (p.Arg905Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.148125581C>TCA3496115SPINK5c.2740-142C>T (n.2740-142C>T)
c.2797C>T (p.Arg933Cys)
c.2740C>T (p.Arg914Cys)
c.2713C>T (p.Arg905Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125582G>ACA3496116SPINK5c.2740-141G>A (n.2740-141G>A)
c.2798G>A (p.Arg933His)
c.2741G>A (p.Arg914His)
c.2714G>A (p.Arg905His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125582G>CCA361649478SPINK5c.2740-141G>C (n.2740-141G>C)
c.2798G>C (p.Arg933Pro)
c.2741G>C (p.Arg914Pro)
c.2714G>C (p.Arg905Pro)
5g.148125582G=CA1589900470SPINK5c.2740-141G= (n.2740-141G=)
c.2798G= (p.Arg933=)
c.2741G= (p.Arg914=)
c.2714G= (p.Arg905=)
5g.148125582G>TCA361649474SPINK5c.2740-141G>T (n.2740-141G>T)
c.2798G>T (p.Arg933Leu)
c.2741G>T (p.Arg914Leu)
c.2714G>T (p.Arg905Leu)
 gnomAD v4
5g.148125583T>ACA446937728SPINK5c.2740-140T>A (n.2740-140T>A)
c.2799T>A (p.Arg933=)
c.2742T>A (p.Arg914=)
c.2715T>A (p.Arg905=)
5g.148125583T>CCA3496117SPINK5c.2740-140T>C (n.2740-140T>C)
c.2799T>C (p.Arg933=)
c.2742T>C (p.Arg914=)
c.2715T>C (p.Arg905=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125583T>GCA446937729SPINK5c.2740-140T>G (n.2740-140T>G)
c.2799T>G (p.Arg933=)
c.2742T>G (p.Arg914=)
c.2715T>G (p.Arg905=)
5g.148125583T=CA1589900471SPINK5c.2740-140T= (n.2740-140T=)
c.2799T= (p.Arg933=)
c.2742T= (p.Arg914=)
c.2715T= (p.Arg905=)
5g.148125584T>ACA361649483SPINK5c.2740-139T>A (n.2740-139T>A)
c.2800T>A (p.Ser934Thr)
c.2743T>A (p.Ser915Thr)
c.2716T>A (p.Ser906Thr)
5g.148125584T>CCA361649485SPINK5c.2740-139T>C (n.2740-139T>C)
c.2800T>C (p.Ser934Pro)
c.2743T>C (p.Ser915Pro)
c.2716T>C (p.Ser906Pro)
5g.148125584T>GCA361649486SPINK5c.2740-139T>G (n.2740-139T>G)
c.2800T>G (p.Ser934Ala)
c.2743T>G (p.Ser915Ala)
c.2716T>G (p.Ser906Ala)
5g.148125585C>ACA361649488SPINK5c.2740-138C>A (n.2740-138C>A)
c.2801C>A (p.Ser934Tyr)
c.2744C>A (p.Ser915Tyr)
c.2717C>A (p.Ser906Tyr)
5g.148125585C>GCA361649490SPINK5c.2740-138C>G (n.2740-138C>G)
c.2801C>G (p.Ser934Cys)
c.2744C>G (p.Ser915Cys)
c.2717C>G (p.Ser906Cys)
5g.148125585C>TCA361649491SPINK5c.2740-138C>T (n.2740-138C>T)
c.2801C>T (p.Ser934Phe)
c.2744C>T (p.Ser915Phe)
c.2717C>T (p.Ser906Phe)
 COSMIC
5g.148125586C>ACA446937730SPINK5c.2740-137C>A (n.2740-137C>A)
c.2802C>A (p.Ser934=)
c.2745C>A (p.Ser915=)
c.2718C>A (p.Ser906=)
5g.148125586C>GCA446937731SPINK5c.2740-137C>G (n.2740-137C>G)
c.2802C>G (p.Ser934=)
c.2745C>G (p.Ser915=)
c.2718C>G (p.Ser906=)
5g.148125586C>TCA446937732SPINK5c.2740-137C>T (n.2740-137C>T)
c.2802C>T (p.Ser934=)
c.2745C>T (p.Ser915=)
c.2718C>T (p.Ser906=)
5g.148125587T>ACA361649493SPINK5c.2740-136T>A (n.2740-136T>A)
c.2803T>A (p.Leu935Met)
c.2746T>A (p.Leu916Met)
c.2719T>A (p.Leu907Met)
5g.148125587T>CCA446937733SPINK5c.2740-136T>C (n.2740-136T>C)
c.2803T>C (p.Leu935=)
c.2746T>C (p.Leu916=)
c.2719T>C (p.Leu907=)
5g.148125587T>GCA361649494SPINK5c.2740-136T>G (n.2740-136T>G)
c.2803T>G (p.Leu935Val)
c.2746T>G (p.Leu916Val)
c.2719T>G (p.Leu907Val)
5g.148125588T>ACA361649497SPINK5c.2740-135T>A (n.2740-135T>A)
c.2804T>A (p.Leu935Ter)
c.2747T>A (p.Leu916Ter)
c.2720T>A (p.Leu907Ter)
5g.148125588T>CCA361649500SPINK5c.2740-135T>C (n.2740-135T>C)
c.2804T>C (p.Leu935Ser)
c.2747T>C (p.Leu916Ser)
c.2720T>C (p.Leu907Ser)
5g.148125588T>GCA361649498SPINK5c.2740-135T>G (n.2740-135T>G)
c.2804T>G (p.Leu935Trp)
c.2747T>G (p.Leu916Trp)
c.2720T>G (p.Leu907Trp)
5g.148125589G>ACA446937734SPINK5c.2740-134G>A (n.2740-134G>A)
c.2805G>A (p.Leu935=)
c.2748G>A (p.Leu916=)
c.2721G>A (p.Leu907=)
5g.148125589G>CCA361649502SPINK5c.2740-134G>C (n.2740-134G>C)
c.2805G>C (p.Leu935Phe)
c.2748G>C (p.Leu916Phe)
c.2721G>C (p.Leu907Phe)
5g.148125589G>TCA361649503SPINK5c.2740-134G>T (n.2740-134G>T)
c.2805G>T (p.Leu935Phe)
c.2748G>T (p.Leu916Phe)
c.2721G>T (p.Leu907Phe)
5g.148125590G>ACA361649504SPINK5c.2740-133G>A (n.2740-133G>A)
c.2806G>A (p.Ala936Thr)
c.2749G>A (p.Ala917Thr)
c.2722G>A (p.Ala908Thr)
 gnomAD v4
5g.148125590G>CCA361649505SPINK5c.2740-133G>C (n.2740-133G>C)
c.2806G>C (p.Ala936Pro)
c.2749G>C (p.Ala917Pro)
c.2722G>C (p.Ala908Pro)
5g.148125590G>TCA361649506SPINK5c.2740-133G>T (n.2740-133G>T)
c.2806G>T (p.Ala936Ser)
c.2749G>T (p.Ala917Ser)
c.2722G>T (p.Ala908Ser)
5g.148125591C>ACA361649508SPINK5c.2740-132C>A (n.2740-132C>A)
c.2807C>A (p.Ala936Asp)
c.2750C>A (p.Ala917Asp)
c.2723C>A (p.Ala908Asp)
5g.148125591C>GCA361649509SPINK5c.2740-132C>G (n.2740-132C>G)
c.2807C>G (p.Ala936Gly)
c.2750C>G (p.Ala917Gly)
c.2723C>G (p.Ala908Gly)
5g.148125591C>TCA361649510SPINK5c.2740-132C>T (n.2740-132C>T)
c.2807C>T (p.Ala936Val)
c.2750C>T (p.Ala917Val)
c.2723C>T (p.Ala908Val)
5g.148125592C>ACA446937735SPINK5c.2740-131C>A (n.2740-131C>A)
c.2808C>A (p.Ala936=)
c.2751C>A (p.Ala917=)
c.2724C>A (p.Ala908=)
5g.148125592C=CA1589900472SPINK5c.2740-131C= (n.2740-131C=)
c.2808C= (p.Ala936=)
c.2751C= (p.Ala917=)
c.2724C= (p.Ala908=)
5g.148125592C>GCA446937736SPINK5c.2740-131C>G (n.2740-131C>G)
c.2808C>G (p.Ala936=)
c.2751C>G (p.Ala917=)
c.2724C>G (p.Ala908=)
 gnomAD v4
5g.148125592C>TCA3496118SPINK5c.2740-131C>T (n.2740-131C>T)
c.2808C>T (p.Ala936=)
c.2751C>T (p.Ala917=)
c.2724C>T (p.Ala908=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125593T>ACA361649513SPINK5c.2740-130T>A (n.2740-130T>A)
c.2809T>A (p.Ser937Thr)
c.2752T>A (p.Ser918Thr)
c.2725T>A (p.Ser909Thr)
5g.148125593T>CCA361649517SPINK5c.2740-130T>C (n.2740-130T>C)
c.2809T>C (p.Ser937Pro)
c.2752T>C (p.Ser918Pro)
c.2725T>C (p.Ser909Pro)
5g.148125593T>GCA361649518SPINK5c.2740-130T>G (n.2740-130T>G)
c.2809T>G (p.Ser937Ala)
c.2752T>G (p.Ser918Ala)
c.2725T>G (p.Ser909Ala)
5g.148125594C>ACA361649522SPINK5c.2740-129C>A (n.2740-129C>A)
c.2810C>A (p.Ser937Tyr)
c.2753C>A (p.Ser918Tyr)
c.2726C>A (p.Ser909Tyr)
5g.148125594C=CA1589900474SPINK5c.2740-129C= (n.2740-129C=)
c.2810C= (p.Ser937=)
c.2753C= (p.Ser918=)
c.2726C= (p.Ser909=)
5g.148125594C>GCA361649521SPINK5c.2740-129C>G (n.2740-129C>G)
c.2810C>G (p.Ser937Cys)
c.2753C>G (p.Ser918Cys)
c.2726C>G (p.Ser909Cys)
5g.148125594C>TCA128941206SPINK5c.2740-129C>T (n.2740-129C>T)
c.2810C>T (p.Ser937Phe)
c.2753C>T (p.Ser918Phe)
c.2726C>T (p.Ser909Phe)
 dbSNP gnomAD v4
5g.148125594_148125596delinsCTGCA1589900473SPINK5c.2740-129_2740-127delinsCTG (n.2740-129_2740-127delinsCTG)
c.2810_2812delinsCTG (p.Ser937=)
c.2753_2755delinsCTG (p.Ser918=)
c.2726_2728delinsCTG (p.Ser909=)
5g.148125595T>ACA446937737SPINK5c.2740-128T>A (n.2740-128T>A)
c.2811T>A (p.Ser937=)
c.2754T>A (p.Ser918=)
c.2727T>A (p.Ser909=)
5g.148125595T>CCA446937738SPINK5c.2740-128T>C (n.2740-128T>C)
c.2811T>C (p.Ser937=)
c.2754T>C (p.Ser918=)
c.2727T>C (p.Ser909=)
5g.148125595T>GCA446937739SPINK5c.2740-128T>G (n.2740-128T>G)
c.2811T>G (p.Ser937=)
c.2754T>G (p.Ser918=)
c.2727T>G (p.Ser909=)
5g.148125596_148125597delCA204581SPINK5c.2740-127_2740-126del (n.2740-127_2740-126del)
c.2812_2813del (p.Val938CysfsTer7)
c.2755_2756del (p.Val919CysfsTer7)
c.2728_2729del (p.Val910CysfsTer7)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125596G>ACA361649523SPINK5c.2740-127G>A (n.2740-127G>A)
c.2812G>A (p.Val938Ile)
c.2755G>A (p.Val919Ile)
c.2728G>A (p.Val910Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125596G>CCA361649524SPINK5c.2740-127G>C (n.2740-127G>C)
c.2812G>C (p.Val938Leu)
c.2755G>C (p.Val919Leu)
c.2728G>C (p.Val910Leu)
5g.148125596G=CA1589900475SPINK5c.2740-127G= (n.2740-127G=)
c.2812G= (p.Val938=)
c.2755G= (p.Val919=)
c.2728G= (p.Val910=)
5g.148125596G>TCA361649525SPINK5c.2740-127G>T (n.2740-127G>T)
c.2812G>T (p.Val938Phe)
c.2755G>T (p.Val919Phe)
c.2728G>T (p.Val910Phe)
5g.148125597T>ACA361649526SPINK5c.2740-126T>A (n.2740-126T>A)
c.2813T>A (p.Val938Asp)
c.2756T>A (p.Val919Asp)
c.2729T>A (p.Val910Asp)
5g.148125597T>CCA361649527SPINK5c.2740-126T>C (n.2740-126T>C)
c.2813T>C (p.Val938Ala)
c.2756T>C (p.Val919Ala)
c.2729T>C (p.Val910Ala)
5g.148125597T>GCA361649528SPINK5c.2740-126T>G (n.2740-126T>G)
c.2813T>G (p.Val938Gly)
c.2756T>G (p.Val919Gly)
c.2729T>G (p.Val910Gly)
5g.148125598T>ACA446937740SPINK5c.2740-125T>A (n.2740-125T>A)
c.2814T>A (p.Val938=)
c.2757T>A (p.Val919=)
c.2730T>A (p.Val910=)
5g.148125598T>CCA446937741SPINK5c.2740-125T>C (n.2740-125T>C)
c.2814T>C (p.Val938=)
c.2757T>C (p.Val919=)
c.2730T>C (p.Val910=)
 gnomAD v4
5g.148125598T>GCA446937742SPINK5c.2740-125T>G (n.2740-125T>G)
c.2814T>G (p.Val938=)
c.2757T>G (p.Val919=)
c.2730T>G (p.Val910=)
5g.148125599G>ACA361649529SPINK5c.2740-124G>A (n.2740-124G>A)
c.2815G>A (p.Ala939Thr)
c.2758G>A (p.Ala920Thr)
c.2731G>A (p.Ala911Thr)
 gnomAD v4
5g.148125599G>CCA361649530SPINK5c.2740-124G>C (n.2740-124G>C)
c.2815G>C (p.Ala939Pro)
c.2758G>C (p.Ala920Pro)
c.2731G>C (p.Ala911Pro)
5g.148125599G>TCA361649532SPINK5c.2740-124G>T (n.2740-124G>T)
c.2815G>T (p.Ala939Ser)
c.2758G>T (p.Ala920Ser)
c.2731G>T (p.Ala911Ser)
5g.148125600C>ACA361649533SPINK5c.2740-123C>A (n.2740-123C>A)
c.2816C>A (p.Ala939Asp)
c.2759C>A (p.Ala920Asp)
c.2732C>A (p.Ala911Asp)
 gnomAD v4
5g.148125600C=CA1589900476SPINK5c.2740-123C= (n.2740-123C=)
c.2816C= (p.Ala939=)
c.2759C= (p.Ala920=)
c.2732C= (p.Ala911=)
5g.148125600C>GCA3496120SPINK5c.2740-123C>G (n.2740-123C>G)
c.2816C>G (p.Ala939Gly)
c.2759C>G (p.Ala920Gly)
c.2732C>G (p.Ala911Gly)
 dbSNP ExAC
5g.148125600C>TCA3496119SPINK5c.2740-123C>T (n.2740-123C>T)
c.2816C>T (p.Ala939Val)
c.2759C>T (p.Ala920Val)
c.2732C>T (p.Ala911Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.148125601C>ACA446937743SPINK5c.2740-122C>A (n.2740-122C>A)
c.2817C>A (p.Ala939=)
c.2760C>A (p.Ala920=)
c.2733C>A (p.Ala911=)
 dbSNP
5g.148125601C=CA1589900477SPINK5c.2740-122C= (n.2740-122C=)
c.2817C= (p.Ala939=)
c.2760C= (p.Ala920=)
c.2733C= (p.Ala911=)
5g.148125601C>GCA446937745SPINK5c.2740-122C>G (n.2740-122C>G)
c.2817C>G (p.Ala939=)
c.2760C>G (p.Ala920=)
c.2733C>G (p.Ala911=)
 gnomAD v4
5g.148125601C>TCA446937744SPINK5c.2740-122C>T (n.2740-122C>T)
c.2817C>T (p.Ala939=)
c.2760C>T (p.Ala920=)
c.2733C>T (p.Ala911=)
5g.148125602A>CCA446937746SPINK5c.2740-121A>C (n.2740-121A>C)
c.2818A>C (p.Arg940=)
c.2761A>C (p.Arg921=)
c.2734A>C (p.Arg912=)
5g.148125602A>GCA361649534SPINK5c.2740-121A>G (n.2740-121A>G)
c.2818A>G (p.Arg940Gly)
c.2761A>G (p.Arg921Gly)
c.2734A>G (p.Arg912Gly)
 gnomAD v4
5g.148125602A>TCA361649535SPINK5c.2740-121A>T (n.2740-121A>T)
c.2818A>T (p.Arg940Trp)
c.2761A>T (p.Arg921Trp)
c.2734A>T (p.Arg912Trp)
5g.148125603G>ACA361649536SPINK5c.2740-120G>A (n.2740-120G>A)
c.2819G>A (p.Arg940Lys)
c.2762G>A (p.Arg921Lys)
c.2735G>A (p.Arg912Lys)
5g.148125603G>CCA361649539SPINK5c.2740-120G>C (n.2740-120G>C)
c.2819G>C (p.Arg940Thr)
c.2762G>C (p.Arg921Thr)
c.2735G>C (p.Arg912Thr)
5g.148125603G>TCA361649540SPINK5c.2740-120G>T (n.2740-120G>T)
c.2819G>T (p.Arg940Met)
c.2762G>T (p.Arg921Met)
c.2735G>T (p.Arg912Met)
5g.148125604G>ACA446937747SPINK5c.2740-119G>A (n.2740-119G>A)
c.2820G>A (p.Arg940=)
c.2763G>A (p.Arg921=)
c.2736G>A (p.Arg912=)
 gnomAD v4
5g.148125604G>CCA361649542SPINK5c.2740-119G>C (n.2740-119G>C)
c.2820G>C (p.Arg940Ser)
c.2763G>C (p.Arg921Ser)
c.2736G>C (p.Arg912Ser)
5g.148125604G>TCA361649543SPINK5c.2740-119G>T (n.2740-119G>T)
c.2820G>T (p.Arg940Ser)
c.2763G>T (p.Arg921Ser)
c.2736G>T (p.Arg912Ser)
5g.148125605A>CCA361649545SPINK5c.2740-118A>C (n.2740-118A>C)
c.2821A>C (p.Met941Leu)
c.2764A>C (p.Met922Leu)
c.2737A>C (p.Met913Leu)
5g.148125605A>GCA361649547SPINK5c.2740-118A>G (n.2740-118A>G)
c.2821A>G (p.Met941Val)
c.2764A>G (p.Met922Val)
c.2737A>G (p.Met913Val)
5g.148125605A>TCA361649549SPINK5c.2740-118A>T (n.2740-118A>T)
c.2821A>T (p.Met941Leu)
c.2764A>T (p.Met922Leu)
c.2737A>T (p.Met913Leu)
 gnomAD v4
5g.148125606T>ACA361649551SPINK5c.2740-117T>A (n.2740-117T>A)
c.2822T>A (p.Met941Lys)
c.2765T>A (p.Met922Lys)
c.2738T>A (p.Met913Lys)
5g.148125606T>CCA361649552SPINK5c.2740-117T>C (n.2740-117T>C)
c.2822T>C (p.Met941Thr)
c.2765T>C (p.Met922Thr)
c.2738T>C (p.Met913Thr)
 gnomAD v4
5g.148125606T>GCA361649554SPINK5c.2740-117T>G (n.2740-117T>G)
c.2822T>G (p.Met941Arg)
c.2765T>G (p.Met922Arg)
c.2738T>G (p.Met913Arg)
5g.148125607G>ACA361649559SPINK5c.2740-116G>A (n.2740-116G>A)
c.2823G>A (p.Met941Ile)
c.2766G>A (p.Met922Ile)
c.2739G>A (p.Met913Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.148125607G>CCA361649556SPINK5c.2740-116G>C (n.2740-116G>C)
c.2823G>C (p.Met941Ile)
c.2766G>C (p.Met922Ile)
c.2739G>C (p.Met913Ile)
5g.148125607G=CA1589900478SPINK5c.2740-116G= (n.2740-116G=)
c.2823G= (p.Met941=)
c.2766G= (p.Met922=)
c.2739G= (p.Met913=)
5g.148125607G>TCA361649557SPINK5c.2740-116G>T (n.2740-116G>T)
c.2823G>T (p.Met941Ile)
c.2766G>T (p.Met922Ile)
c.2739G>T (p.Met913Ile)
5g.148125608A>CCA361649561SPINK5c.2740-115A>C (n.2740-115A>C)
c.2824A>C (p.Ser942Arg)
c.2767A>C (p.Ser923Arg)
c.2740A>C (p.Ser914Arg)
5g.148125608A>GCA361649565SPINK5c.2740-115A>G (n.2740-115A>G)
c.2824A>G (p.Ser942Gly)
c.2767A>G (p.Ser923Gly)
c.2740A>G (p.Ser914Gly)
5g.148125608A>TCA361649567SPINK5c.2740-115A>T (n.2740-115A>T)
c.2824A>T (p.Ser942Cys)
c.2767A>T (p.Ser923Cys)
c.2740A>T (p.Ser914Cys)
5g.148125608_148125611dupCA2695205372SPINK5c.2740-115_2740-112dup (n.2740-115_2740-112dup)
c.2824_2827dup (p.Thr943LysfsTer4)
c.2767_2770dup (p.Thr924LysfsTer4)
c.2740_2743dup (p.Thr915LysfsTer4)
5g.148125609G>ACA361649569SPINK5c.2740-114G>A (n.2740-114G>A)
c.2825G>A (p.Ser942Asn)
c.2768G>A (p.Ser923Asn)
c.2741G>A (p.Ser914Asn)
 gnomAD v4
5g.148125609G>CCA361649573SPINK5c.2740-114G>C (n.2740-114G>C)
c.2825G>C (p.Ser942Thr)
c.2768G>C (p.Ser923Thr)
c.2741G>C (p.Ser914Thr)
5g.148125609G>TCA361649575SPINK5c.2740-114G>T (n.2740-114G>T)
c.2825G>T (p.Ser942Ile)
c.2768G>T (p.Ser923Ile)
c.2741G>T (p.Ser914Ile)
5g.148125610T>ACA361649579SPINK5c.2740-113T>A (n.2740-113T>A)
c.2826T>A (p.Ser942Arg)
c.2769T>A (p.Ser923Arg)
c.2742T>A (p.Ser914Arg)
5g.148125610T>CCA446937748SPINK5c.2740-113T>C (n.2740-113T>C)
c.2826T>C (p.Ser942=)
c.2769T>C (p.Ser923=)
c.2742T>C (p.Ser914=)
5g.148125610T>GCA361649580SPINK5c.2740-113T>G (n.2740-113T>G)
c.2826T>G (p.Ser942Arg)
c.2769T>G (p.Ser923Arg)
c.2742T>G (p.Ser914Arg)
5g.148125611A>CCA361649582SPINK5c.2740-112A>C (n.2740-112A>C)
c.2827A>C (p.Thr943Pro)
c.2770A>C (p.Thr924Pro)
c.2743A>C (p.Thr915Pro)
5g.148125611A>GCA361649584SPINK5c.2740-112A>G (n.2740-112A>G)
c.2827A>G (p.Thr943Ala)
c.2770A>G (p.Thr924Ala)
c.2743A>G (p.Thr915Ala)
5g.148125611A>TCA361649585SPINK5c.2740-112A>T (n.2740-112A>T)
c.2827A>T (p.Thr943Ser)
c.2770A>T (p.Thr924Ser)
c.2743A>T (p.Thr915Ser)
5g.148125612C>ACA361649590SPINK5c.2740-111C>A (n.2740-111C>A)
c.2828C>A (p.Thr943Lys)
c.2771C>A (p.Thr924Lys)
c.2744C>A (p.Thr915Lys)
5g.148125612C>GCA361649588SPINK5c.2740-111C>G (n.2740-111C>G)
c.2828C>G (p.Thr943Arg)
c.2771C>G (p.Thr924Arg)
c.2744C>G (p.Thr915Arg)
 gnomAD v4
5g.148125612C>TCA361649586SPINK5c.2740-111C>T (n.2740-111C>T)
c.2828C>T (p.Thr943Ile)
c.2771C>T (p.Thr924Ile)
c.2744C>T (p.Thr915Ile)
5g.148125613A=CA1589900479SPINK5c.2740-110A= (n.2740-110A=)
c.2829A= (p.Thr943=)
c.2772A= (p.Thr924=)
c.2745A= (p.Thr915=)
5g.148125613A>CCA446937749SPINK5c.2740-110A>C (n.2740-110A>C)
c.2829A>C (p.Thr943=)
c.2772A>C (p.Thr924=)
c.2745A>C (p.Thr915=)
5g.148125613A>GCA446937750SPINK5c.2740-110A>G (n.2740-110A>G)
c.2829A>G (p.Thr943=)
c.2772A>G (p.Thr924=)
c.2745A>G (p.Thr915=)
 dbSNP gnomAD v3 gnomAD v4
5g.148125613A>TCA446937751SPINK5c.2740-110A>T (n.2740-110A>T)
c.2829A>T (p.Thr943=)
c.2772A>T (p.Thr924=)
c.2745A>T (p.Thr915=)
5g.148125614G>ACA361649592SPINK5c.2740-109G>A (n.2740-109G>A)
c.2829+1G>A (n.2829+1G>A)
c.2772+1G>A (n.2772+1G>A)
c.2745+1G>A (n.2745+1G>A)
 gnomAD v4
5g.148125614G>CCA361649595SPINK5c.2740-109G>C (n.2740-109G>C)
c.2829+1G>C (n.2829+1G>C)
c.2772+1G>C (n.2772+1G>C)
c.2745+1G>C (n.2745+1G>C)
 gnomAD v4
5g.148125614G>TCA361649593SPINK5c.2740-109G>T (n.2740-109G>T)
c.2829+1G>T (n.2829+1G>T)
c.2772+1G>T (n.2772+1G>T)
c.2745+1G>T (n.2745+1G>T)
5g.148125615T>ACA361649597SPINK5c.2740-108T>A (n.2740-108T>A)
c.2829+2T>A (n.2829+2T>A)
c.2772+2T>A (n.2772+2T>A)
c.2745+2T>A (n.2745+2T>A)
 gnomAD v4
5g.148125615T>CCA361649600SPINK5c.2740-108T>C (n.2740-108T>C)
c.2829+2T>C (n.2829+2T>C)
c.2772+2T>C (n.2772+2T>C)
c.2745+2T>C (n.2745+2T>C)
5g.148125615T>GCA361649599SPINK5c.2740-108T>G (n.2740-108T>G)
c.2829+2T>G (n.2829+2T>G)
c.2772+2T>G (n.2772+2T>G)
c.2745+2T>G (n.2745+2T>G)
 gnomAD v4
5g.148125616G>ACA3496121SPINK5c.2740-107G>A (n.2740-107G>A)
c.2829+3G>A (n.2829+3G>A)
c.2772+3G>A (n.2772+3G>A)
c.2745+3G>A (n.2745+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125616G=CA1589900480SPINK5c.2740-107G= (n.2740-107G=)
c.2829+3G= (n.2829+3G=)
c.2772+3G= (n.2772+3G=)
c.2745+3G= (n.2745+3G=)
5g.148125617A>GCA2675859309SPINK5c.2740-106A>G (n.2740-106A>G)
c.2829+4A>G (n.2829+4A>G)
c.2772+4A>G (n.2772+4A>G)
c.2745+4A>G (n.2745+4A>G)
 gnomAD v4
5g.148125618G=CA1589900481SPINK5c.2740-105G= (n.2740-105G=)
c.2829+5G= (n.2829+5G=)
c.2772+5G= (n.2772+5G=)
c.2745+5G= (n.2745+5G=)
5g.148125618G>TCA1082734790SPINK5c.2740-105G>T (n.2740-105G>T)
c.2829+5G>T (n.2829+5G>T)
c.2772+5G>T (n.2772+5G>T)
c.2745+5G>T (n.2745+5G>T)
 dbSNP gnomAD v3 gnomAD v4
5g.148125621T>GCA563525682SPINK5c.2740-102T>G (n.2740-102T>G)
c.2829+8T>G (n.2829+8T>G)
c.2772+8T>G (n.2772+8T>G)
c.2745+8T>G (n.2745+8T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125621T=CA1589900482SPINK5c.2740-102T= (n.2740-102T=)
c.2829+8T= (n.2829+8T=)
c.2772+8T= (n.2772+8T=)
c.2745+8T= (n.2745+8T=)
5g.148125626C>GCA2675859310SPINK5c.2740-97C>G (n.2740-97C>G)
c.2829+13C>G (n.2829+13C>G)
c.2772+13C>G (n.2772+13C>G)
c.2745+13C>G (n.2745+13C>G)
 gnomAD v4
5g.148125629G>ACA3496122SPINK5c.2740-94G>A (n.2740-94G>A)
c.2829+16G>A (n.2829+16G>A)
c.2772+16G>A (n.2772+16G>A)
c.2745+16G>A (n.2745+16G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125629G=CA1589900483SPINK5c.2740-94G= (n.2740-94G=)
c.2829+16G= (n.2829+16G=)
c.2772+16G= (n.2772+16G=)
c.2745+16G= (n.2745+16G=)
5g.148125631G>ACA2675859311SPINK5c.2740-92G>A (n.2740-92G>A)
c.2829+18G>A (n.2829+18G>A)
c.2772+18G>A (n.2772+18G>A)
c.2745+18G>A (n.2745+18G>A)
 gnomAD v4
5g.148125631G>CCA2710183681SPINK5c.2740-92G>C (n.2740-92G>C)
c.2829+18G>C (n.2829+18G>C)
c.2772+18G>C (n.2772+18G>C)
c.2745+18G>C (n.2745+18G>C)
 dbSNP
5g.148125632C=CA1589900484SPINK5c.2740-91C= (n.2740-91C=)
c.2829+19C= (n.2829+19C=)
c.2772+19C= (n.2772+19C=)
c.2745+19C= (n.2745+19C=)
5g.148125632C>GCA1082734798SPINK5c.2740-91C>G (n.2740-91C>G)
c.2829+19C>G (n.2829+19C>G)
c.2772+19C>G (n.2772+19C>G)
c.2745+19C>G (n.2745+19C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.148125634A>GCA2675859312SPINK5c.2740-89A>G (n.2740-89A>G)
c.2829+21A>G (n.2829+21A>G)
c.2772+21A>G (n.2772+21A>G)
c.2745+21A>G (n.2745+21A>G)
 gnomAD v4
5g.148125634_148125636delinsAAGCA1589900485SPINK5c.2740-89_2740-87delinsAAG (n.2740-89_2740-87delinsAAG)
c.2829+21_2829+23delinsAAG (n.2829+21_2829+23delinsAAG)
c.2772+21_2772+23delinsAAG (n.2772+21_2772+23delinsAAG)
c.2745+21_2745+23delinsAAG (n.2745+21_2745+23delinsAAG)
5g.148125639_148125640delCA128941222SPINK5c.2740-84_2740-83del (n.2740-84_2740-83del)
c.2829+26_2829+27del (n.2829+26_2829+27del)
c.2772+26_2772+27del (n.2772+26_2772+27del)
c.2745+26_2745+27del (n.2745+26_2745+27del)
 dbSNP
5g.148125636G>ACA1082734800SPINK5c.2740-87G>A (n.2740-87G>A)
c.2829+23G>A (n.2829+23G>A)
c.2772+23G>A (n.2772+23G>A)
c.2745+23G>A (n.2745+23G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.148125636G=CA1589900486SPINK5c.2740-87G= (n.2740-87G=)
c.2829+23G= (n.2829+23G=)
c.2772+23G= (n.2772+23G=)
c.2745+23G= (n.2745+23G=)
5g.148125637A=CA1589900487SPINK5c.2740-86A= (n.2740-86A=)
c.2829+24A= (n.2829+24A=)
c.2772+24A= (n.2772+24A=)
c.2745+24A= (n.2745+24A=)
5g.148125637A>GCA563525683SPINK5c.2740-86A>G (n.2740-86A>G)
c.2829+24A>G (n.2829+24A>G)
c.2772+24A>G (n.2772+24A>G)
c.2745+24A>G (n.2745+24A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125637A>TCA2768831874SPINK5c.2740-86A>T (n.2740-86A>T)
c.2829+24A>T (n.2829+24A>T)
c.2772+24A>T (n.2772+24A>T)
c.2745+24A>T (n.2745+24A>T)
5g.148125638G>CCA3496123SPINK5c.2740-85G>C (n.2740-85G>C)
c.2829+25G>C (n.2829+25G>C)
c.2772+25G>C (n.2772+25G>C)
c.2745+25G>C (n.2745+25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125638G=CA1589900488SPINK5c.2740-85G= (n.2740-85G=)
c.2829+25G= (n.2829+25G=)
c.2772+25G= (n.2772+25G=)
c.2745+25G= (n.2745+25G=)
5g.148125639A>GCA2578443732SPINK5c.2740-84A>G (n.2740-84A>G)
c.2829+26A>G (n.2829+26A>G)
c.2772+26A>G (n.2772+26A>G)
c.2745+26A>G (n.2745+26A>G)
 gnomAD v4
5g.148125639A>TCA2578443733SPINK5c.2740-84A>T (n.2740-84A>T)
c.2829+26A>T (n.2829+26A>T)
c.2772+26A>T (n.2772+26A>T)
c.2745+26A>T (n.2745+26A>T)
5g.148125640G>ACA3496124SPINK5c.2740-83G>A (n.2740-83G>A)
c.2829+27G>A (n.2829+27G>A)
c.2772+27G>A (n.2772+27G>A)
c.2745+27G>A (n.2745+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125640G>CCA805388560SPINK5c.2740-83G>C (n.2740-83G>C)
c.2829+27G>C (n.2829+27G>C)
c.2772+27G>C (n.2772+27G>C)
c.2745+27G>C (n.2745+27G>C)
 dbSNP gnomAD v3 gnomAD v4
5g.148125640G=CA1589900489SPINK5c.2740-83G= (n.2740-83G=)
c.2829+27G= (n.2829+27G=)
c.2772+27G= (n.2772+27G=)
c.2745+27G= (n.2745+27G=)
5g.148125644T>ACA1589900490SPINK5c.2740-79T>A (n.2740-79T>A)
c.2829+31T>A (n.2829+31T>A)
c.2772+31T>A (n.2772+31T>A)
c.2745+31T>A (n.2745+31T>A)
 dbSNP
5g.148125644T=CA1589900491SPINK5c.2740-79T= (n.2740-79T=)
c.2829+31T= (n.2829+31T=)
c.2772+31T= (n.2772+31T=)
c.2745+31T= (n.2745+31T=)
5g.148125647delCA2675859313SPINK5c.2740-76del (n.2740-76del)
c.2829+34del (n.2829+34del)
c.2772+34del (n.2772+34del)
c.2745+34del (n.2745+34del)
 dbSNP gnomAD v4
5g.148125652delCA2768831875SPINK5c.2740-71del (n.2740-71del)
c.2829+39del (n.2829+39del)
c.2772+39del (n.2772+39del)
c.2745+39del (n.2745+39del)
5g.148125651_148125652delCA2502023600SPINK5c.2740-72_2740-71del (n.2740-72_2740-71del)
c.2829+38_2829+39del (n.2829+38_2829+39del)
c.2772+38_2772+39del (n.2772+38_2772+39del)
c.2745+38_2745+39del (n.2745+38_2745+39del)
5g.148125654C>ACA128941260SPINK5c.2740-69C>A (n.2740-69C>A)
c.2829+41C>A (n.2829+41C>A)
c.2772+41C>A (n.2772+41C>A)
c.2745+41C>A (n.2745+41C>A)
 dbSNP gnomAD v4
5g.148125654C=CA1589900492SPINK5c.2740-69C= (n.2740-69C=)
c.2829+41C= (n.2829+41C=)
c.2772+41C= (n.2772+41C=)
c.2745+41C= (n.2745+41C=)
5g.148125654C>GCA2675859314SPINK5c.2740-69C>G (n.2740-69C>G)
c.2829+41C>G (n.2829+41C>G)
c.2772+41C>G (n.2772+41C>G)
c.2745+41C>G (n.2745+41C>G)
 gnomAD v4
5g.148125654C>TCA1589900493SPINK5c.2740-69C>T (n.2740-69C>T)
c.2829+41C>T (n.2829+41C>T)
c.2772+41C>T (n.2772+41C>T)
c.2745+41C>T (n.2745+41C>T)
 dbSNP

Number of alleles fetched